Podcasts about genetic counselling

Breaking the Rules: A Clinician's Guide to Treating OCD

Play Episode Listen Later Dec 6, 2023 37:17

On today's episode of the G Word, our guests will be discussing the CanGene-CanVar programme. Funded by Cancer Research UK, the 5-year programme aims to create an interface between NHS clinical care and research that will expand genetic testing access for those with inherited cancers. Our host Amanda Pichini, Clinical Lead for Genetic Counselling at Genomics England, is joined by Dr Helen Hanson, Consultant in cancer genetics at the Peninsular Regional Genetic Service, Kelly Kohut, Lead Genetic Counsellor at the South West Thames Centre for Genomics, and Rochelle Gold, Patient Representative on the CanGene-Canvar research programme and co-founder of BRCA Journey. "There is also the possibility of finding out genetic information that's familial or inherited, which could mean that the information is not only important for the person who is being treated for cancer at the current time but also as a next step informing relatives that they might have a higher chance of getting cancers in the future due to a genetic variant..." You can read the transcript below or download it here: How-are-genetic-tests-transforming-cancer-prevention.docx Amanda: Hello and welcome to The G Word. My name is Amanda Pichini and I'm the Clinical Lead for Genetic Counselling at Genomics England. We know that cancer is a very common disease. About one in two people will develop cancer at some point in their lifetime. Cancer is a disease of the genome involving many changes to a person's genome over time as well as other factors. Only a small proportion of all cancers are inherited, but this can have a significant impact for those families who have a much higher risk of cancer and options to reduce their risk. Today I'm delighted to be joined by Dr Helen Hanson, Consultant Clinical Geneticist; Kelly Kohut, Consultant Genetic Counsellor; and Rochelle Gold, Patient Representative and co-founder of BRCA Journey. We'll be discussing the CanGene-CanVar programme which aims to link NHS clinical care and research to expand access to genetic testing and care for people with inherited cancers. Welcome, Rochelle, Helen and Kelly to The G Word. Thank you for joining me today. Let's start with some introductions. Rochelle, over to you? Rochelle: Hi, everyone. I'm Rochelle and I'm one of the Patient Reps on the CanGene-CanVar research programme. I also co-founded an organisation called BRCA Journey that helps to raise awareness of the BRCA genetic mutation amongst both clinicians and the community, and also supports people who might be at risk of the mutation or who are thinking about testing, all the way through to maybe having preventative treatment or preventative surgery. We support those with that decisions. We're not genetic counsellors but we do basically talk to people about our experience and knowledge that we have of what it's like as a patient to be someone living with the mutation. Amanda: Thank you. Could you briefly tell us what BRCA is and how you came to be a patient? Rochelle: BRCA is a genetic mutation that puts people at greater risk of breast and ovarian cancer. My mum had the mutation, in fact she had two of the mutations which is apparently quite rare. She passed away from breast cancer and just before she passed away I found out that I had the genetic mutation as well. I personally have had preventative surgery and reconstruction to prevent myself from getting breast and ovarian cancer. I got involved in being a patient rep so that I can advocate for people who may have the mutation, but also make sure that as many people as possible can be tested and be aware that they have the mutation and have that power to have the knowledge to be able to do something about it should they so wish. Amanda: Thank you so much for sharing that with us. Kelly, over to you? Kelly: Hello, everyone. I'm Kelly Kohut, I'm the Lead Consultant Genetic Counsellor at the South West Thames Centre for Genomics, which is based at St George's Hospital in London. For many years I've been working in clinical practice in genetic counselling, seeing patients and their families regarding personal or family history of cancer, offering genetic testing where that's available, and then giving the results and helping to refer people on for surveillance programmes and to discuss risk reducing options, and also help a lot with communication within families, sharing the information from the genetic test results. For the past few years, I've also been doing my own research as part of the CanGene-CanVar programme, funded by the charity Cancer Research UK. This has involved partnering directly with patients and other expert stakeholders to co-design a patient website to support decision-making around the genetic chances of getting cancer in families. Amanda: Thank you. And Helen? Helen: Hi, everyone. I'm Helen Hanson, I'm a Consultant in Cancer Genetics. I'm based at the Peninsular Regional Genetic Service which is in Exeter. In my clinical practice I see patients who either have a cancer diagnosis to consider whether they may have an inherited susceptibility or people who maybe have a family history of cancer to try and determine if they are at risk due to their family history. Like Kelly and Rochelle I've also been involved in the CanGene-CanVar programme for the last four years. I've been involved in work package three of the programme which is developing clinical guidelines with the patients who have an inherited predisposition to cancer. I was also fortunate enough to be given some funding to carry on with this work beyond the programme in the new NIHR Exeter Biomedical Research Centre. Also, I'm currently chair of the UK Cancer Genetics Group, who has an aim of improving the management of patients who have an inherited predisposition to cancer. It's been really great to work on all these different things and try and bring things together to try and improve care for patients who do have rare inherited genetic conditions predisposing to cancer. Amanda: Fantastic. Thanks, everyone. Kelly, I wondered if you could start us off by just explaining a little bit more about how genetics and genomics is relevant to cancer. Especially inherited cancers, why is this an important thing to talk about? Kelly: The availability of genetic testing has been increasing steadily over the years. Currently from pretty much anyone who's been diagnosed with cancer there should be some awareness around the possible benefit of knowing the genetics behind the development of that cancer and whether any genetic or genomic testing might help to choose more personalised treatments or surgical options for that cancer that's been diagnosed. There is also the possibility of finding out genetic information that's familial or inherited, which could mean that the information is not only important for the person who is being treated for cancer at the current time but also as a next step informing relatives that they might have a higher chance of getting cancers in the future due to a genetic variant and that they could ask their GP for referral to genetics to be offered genetic testing and to find out about their chances of getting cancer and the choices for how to manage that. Amanda: Thank you. There are clearly some important things that someone would do differently when they know they have an inherited cancer. Helen, how can we make sure that clinicians and patients and families know what do to in these situations? Helen: Following on from Kelly explaining the amount of genetic testing we can offer has really increased over the last five to ten years and we're not in a position to offer many more patients genetic testing, it's important that we also consider what to do with that information when we discover somebody does have a pathogenic variant or a mutation in a cancer predisposition gene. There are over 100 different cancer predisposition genes described and actually having a variant in one these genes is rare. It's difficult and like other conditions in medicine due to their rarity to really understand how best to manage these patients. But what's very important is that we try to understand how best we can help patients manage their cancer risk based on the lifetime risk of cancer and the particular cancers that they can develop and ensure that patients across the country are all being given the same advice, the same information about their cancer risks. Through the CanGene-CanVar programme we've had a whole work package which is devoted to clinical guideline development where we've looked at a number of these genes and looked at the evidence that is available in terms of cancer risks, the utility of surveillance or early detection of cancers in that condition, and also whether risk-reducing surgery could be offered. Really try to bring together groups of experts to discuss the evidence because for some genes it really is quite limited due to the rarity of the condition. The overarching aim is really to develop guidance that is relevant and can be offered in our current clinical practice and is consistent to all patients who have a variant in one of these genes. Amanda: You mentioned that many of these inherited cancer conditions are very rare. Is there a need to look internationally or collaborate internationally? How do you pull some of these things together when there's so little information? Helen: We definitely have found it really helpful to have international collaborations. Some of these conditions there may be very few patients in the UK who have this condition, so each individual clinician who works in cancer genetics may have only seen one or two patients with the condition than themselves and, therefore, collaborating with international colleagues has been very helpful and we have recently published some guidance for a condition BAP1 tumour predisposition syndrome which increases an individual's lifetime risk of developing mesothelioma, which is a type of lung cancer, renal cancer and melanomas of the skin and eye. This is a rare condition, but we worked with European colleagues to develop a set of guidelines advising what surveillance the patient should have, so looking to melanomas, looking for early detection of kidney cancers, so having that international collaboration has been really very helpful because in the UK there are so few cases per centre of individuals who have that condition. Amanda: That sounds really helpful. Rochelle, we know that shared decision-making is so important in healthcare. How can we make sure that the voices of patients are reflected within these guidelines that were developing and that it's clear to them what needs to happen for their healthcare? Rochelle: I think it's really important that patients are involved in the development of the guidelines, first of all, and actually within those guidelines there is stuff that talks about that, being about shared decision-making. A lot of these guidelines are in a language that are quite a clinical language that is not necessarily accessible to patients themselves. It's really important that they're part of the creation of them but also that there are things out there that enable people to understand what are these guidelines about, what do these guidelines actually mean in practice. When you find out that you have a particular genetic mutation, of course, the first place you probably go is Google. You find a hell of a lot of information and you find all sorts from different countries and different people and different organisations. You're like which is the thing I need to look at, which is the thing that actually tells me what's going on, which is the thing that really helps me to understand what this actually means for me and what should happen to me? What is the pathway for me, etc. I think we also need to recognise that people have different levels of health literacy as well. I am someone who can probably navigate my way around a very complex system, which is the NHS, maybe better than other people. But there are plenty of people out there who this is new people, this is a completely new thing that's happened to them, a completely new thing to understand. If you're not used to being part of health systems and navigating your way around it, it can be quite scary. What does mutation mean? What does it mean for me? What does it mean to my future? What does it mean for my family? All this information. There needs to be something somewhere that talks about this, some sort of lay way and helps people to understand what this means for them and helps them to engage with it. To some extent, that's where my organisation was born from, that thing about having somebody who can just talk about it in normal words, in normal terms and normal views of what these guidelines actually do mean. The fact is they are just guidelines, they don't tell you this is what you do. You're this person, you're in this circumstance, you do this, it doesn't. There's some ambiguity there that needs to be navigated by the patient and they need support in order to do that. Amanda: That's a great point. Having previously worked as a genetic counsellor, also seeing patients with inherited cancer conditions, it really strikes you how individual each person's journey and decisions are. They're thinking about all kinds of factors in their life or in their family's life. Navigating through that and understanding do I have surgery or do I have screening and how do I make decisions about this is based on my previous experiences and so many other factors. Having access to different sources of support to help people navigate through that feels incredibly important. We've been talking a bit about inherited cancers in general, but you're all here because you're involved in the CanGene-CanVar programme. Kelly, could you tell us a bit more about what that is and what he programme is aiming to achieve? Kelly: The CanGene-CanVar programme is a five year grant funded by Cancer Research UK. It involves six different work packages, so lots of experts all around the UK have been allowed to have some dedicated time to work on specific areas where there hasn't been enough resource put in in the past which has resulted in a real gap between the research and the current findings and actually using that information to benefit patients by bridging the gap and putting those research findings into clinical care. My programme is in work package four which is co-designing patient resources which are decision support interventions. Basically, it's a website and it can be printed as a booklet and it's interactive and it's up to date and it's personalised to help convey the complicated information about genetic cancer conditions in a way that's meaningful and patients can understand, and it helps them with their personalised shared decision-making. The CanGene-CanVar programme is underpinned by the patient reference panel and they've been involved, including Rochelle and others, from the conception of the idea of the programme and all the way through with various different activities helping to look at documents as they're developed, before their finalised, and giving input in focus groups and one-on-one and email conversations. They're called upon frequently to share their lived experience and say what's important to them when they make decisions and that's really helped to drive the direction of the research and inform the results before they're published. Amanda: That sounds like a really helpful approach to developing something in a way that's really working very closely with patients and participants. Rochelle, it sounded like you were involved in that. Can you tell us a bit about what that was like from your perspective? Rochelle: It's really rewarding, it's really motivating to be actually one of the patient reps in relation to this. I don't want to make my colleagues from the team blush, but it's just such an inclusive environment where as a patient is really welcomed, really heard, it's very much a partnership and that's been really, really important and it makes you feel valued as a patient and actually the importance of the lived experience the patient view has really been prominent in this. I would say that's why it's helped develop such a useful tool, the fact as a patient people are really valuing and taking into account our lived experience, our views, our understanding. It's been quite fun in some of the sessions. There have been some good debates between us and some of the clinicians and it's been really good and really useful. I think some of the people who maybe haven't encountered a patient panel before and engaged with patient's lived experience have probably learn a lot from it because we are pretty empowered to use our voice in this. It's been a really great experience. Amanda: I'd love to dig into those debates a bit more. Kelly, were there things that you changed in the decision aid as a result of some of those discussions or as a result of that input that maybe surprised you? Kelly: We have made changes based directly on what we've learned from the patients presenting their lived experiences. They've been very open and honest with us. Like Rochelle, I felt so privileged to be part of this real partnership with the patients. As a genetic counsellor who had many years of experience in clinical practice before moving into this research role, I've been really surprised but also gratified by how much I've been able to learn from the patients in a different way because I am sort of taking a step back, I'm there as a researcher and not directly as a clinician looking after someone one-on-one in clinic and just thinking about their specific needs at that time. But because I'm hearing from people from all different situations, different parts of the UK and other countries and maybe it's 10/20 years since they had their genetic diagnosis are actually getting a bigger picture of their care needs that we might not have heard about as the clinicians on the ground because they might not be coming back to tell us. If we haven't opened the door to that conversation about their personal situation or who's influencing them or what's important to them when they make decisions, we just might not have learned about the thing they're grappling with and they've gone off and maybe Googled, they've found a patient support group or something else to support them. In my research and in my interviews and the focus groups, all of the activities I've been learning about the gaps in care, what might be needed to address that. The decision aid has not been yet ruled into clinical practice but we're very keen to get it out there and everyone wants it and wants to use it. We want to make sure that we've developed it in a robust patient-centred way as much as we can for us before we put it out. It will always be updated and go through refinements, but hopefully in the New Year we will be able to let people start using it in the real world situation. Amanda: That's great, I'm sure you're looking forward to that. Helen: I was just going to add to that in terms of the guideline development we've had a number of consensus meetings where we've made decisions about guidelines, for example, genes that can be predisposed to ovarian cancer and we've included patients from the patient reference panel and from other patient groups in those consensus meetings. Again, as Kelly said, that's been so helpful because it's really brought something to those discussions and it is a different perspective than when we see patients in clinic because often we're seeing them at the point of genetic testing or maybe for their results, but actually that doesn't give us that overview of the whole patient journey and the whole patient experience. I think that has been really one of the benefits of this programme and Kelly has been really pioneering the co-design of patient information leaflets, decision aids with patients. Rather than clinicians designing things for patients that we think that they will understand, it's actually working with patients from the start to get things right the first time. It's been a really great part of this programme. Amanda: Rochelle, did you want to add something further here? Rochelle: Yes. I think one of the sessions that we had as a patient and clinician and researcher session that really stood out for me was when we started looking at how do people make decisions. We had academics and researchers who've looked at how do people make decisions, talk about the knowledge base and the research base that we have about it. As a larger group of patients we got together to discuss about how have we made decisions. It was really interesting because I don't think I've ever reflected on how I made the decision and what came from that in terms of what I did about having my mutation. Hearing about how other people did as well, that session really does stick in my mind and actually I learnt a lot as a person about decision-making theory but also about myself and reflecting on how I make decisions. So as a patient involved in this, it's not always about what I bring to this but actually as a patient rep you get a lot from it, too. I've learnt a lot from the colleagues that I've worked with. Amanda: That's fantastic. It's really great to hear the careful thought that's gone into this, a real excellent example that hopefully others can look to. I think, Kelly, hasn't your work won an award recently as well? Kelly: We as a whole team won an award from the academic health science network and the NHS Confederation, it's called the Innovate Awards 2023. This was for excellence in patient and public involvement in transformation and innovation. Yes, it was a chance to showcase the really positive experience that we've had. I think on all sides we've learnt a lot from each other and just to hope to inspire other researchers and clinicians to take this co-design approach with patients because we all benefit from it so much. We think that the resources, the guidelines, everything that we develop will be better from the start if we work together throughout the project. We're really hoping to encourage others to consider from the beginning of their idea about a research programme or clinical development to bring the patients in right at the start, because they can really help to guide where things go next and then throughout. Even through to publications being on, committees, being co-chairs, presenting together at conferences, that can all help to really share the experience and the benefits that we get from the partnership. Amanda: That's great, congratulations. Coming back now to some of the aims of CanGene-CanVar and trying to bridge that gap, as you said, between research and clinical care, I guess that means there are some needs that still aren't being met that are falling through that gap at the moment. Helen, from your perspective what are some of those unmet needs that we currently have or areas that are still needing improvement? Helen: I think there's still lots that we have to learn, particularly about individual risks for patients. We might have patients who all have a pathogenic variant in a certain gene but their risks might be slightly different due to factors that can modify their risk. Trying to understand some of those risks better so that we can really have much better informed discussions with patients about their lifetime cancer risks I think would be really helpful. Work package one of the programme is really focussing on that and looking at some of the information we have through national registries and trying to understand risks for specific genes better, which will help our discussions with patients, and then we still need to understand, which is more outside the programme, more how surveillance, so early cancer detection through screenings such as mammograms or ultrasounds for different cancers can help detect cancers early. There's still lots of information that we need to learn. I think Kelly's decision aid which has been focussed on Lynch Syndrome, I think that can be translated across lots of other genetic conditions, because for each gene there is a different set of decisions. For some of the genes that we developed clinical guidelines for we might be recommending slightly different management or for some of the genes we've recommended maybe a minimum and an extended level of surveillance, particularly for a gene called DICER1 where we've offered different options in childhood. Decision aids would potentially help in some of those other genes building on the work that's already been developed as part of the programme. Although the programme is coming to an end in the next year, I think there's still lots of work to be done in this area. Amanda: It really sounds like you've all been collectively improving how much this work is worthwhile, so that's great to hear. Rochelle, how about for you, are there areas that you would see as unmet needs or areas where we or research can improve to help patients and families with inherited cancers. Rochelle: Similar to some of the stuff that Helen was saying, knowing more about what happens when people have different types of treatment, different types of surveillance and monitoring and stuff like that, I think there are things that are evolving all the time. I think in the end when you think about gaps, there's nothing that's going to be written down on paper that says if you have this, do this. In the end, every single patient is an individual with individual circumstances. I think until we actually know that if you do this, this happens and this happens, this is going to be your chances of survival if you go through this route. Even then when you've got the chance of survival, that's literally just a probability, it's not a binary this will happen or that will happen. There's always going to be a need for discussion, there's always going to be a need for these brilliant genetic counsellors that we have to talk us through some of those complex decisions that we have to make. I think, yes, we'll get more information, we'll get more evidence, we'll get more understanding of treatments that work best for different people, and we'll get it out there and we absolutely do need to do that. Even when you have all the information you need, even if you made a solid decision, I mean, when I found out I had the mutation immediately I was like, right, that's it, I'll have preventative surgery after what happened to my mum. It was an absolute no-brainer for me. For other people it might not have been if they were at a different life stage. I'd had my kids, I didn't need my ovaries, I didn't need my womb, it was pretty clear cut. Even then when I was thinking about the different treatment and when to have that surgery, I got most of my information from bumping into somebody in the ladies' toilets who has been through it before. I think there's always going to be a need in terms of being able to have those conversations to take in all the information you do that and make some sort of informed decision. What came out of that decision-making workshop and all the other things that we did about probabilities, it's all just a model. It's a model of what might happen. The thing is, all of these models, they're all wrong, they just help you maybe make a discussion or a decision that might be right. You just never know. I still don't know if the decisions I made were the right decisions either. There needs to be that space for people to consider their options, you're never going to get the definitive answer. Amanda: An important message there. We talk a lot about using digital tools to be able to do things better at scale, better ways to give information, but I think what you're saying is we can't replace certain elements of human connection, we can't underestimate the value of that. You made a really good point earlier as well about how so many of these decisions have uncertainty and it can be really difficult to navigate the complexities of a health system. Perhaps even more challenging if you have struggles with health literacy or if you are an underserved group in some way or another. Kelly, I think you mentioned that some of your research has also touched on developing information for underserved groups. Can you tell us a bit more about that? Kelly: We recognised that there are many underserved groups that are not represented in research, in literature, and applied for additional funding to do some specific targeted projects in the community. There were a couple of examples I can mention. One was inspired by colleagues at the Royal Marsden who made some videos about prostate screening and the had black men and their family members talking about this in a relaxed barber's shop setting. Through reaching out into the community I was connected with Lee Townsend from Macmillan who's been making these barbershop videos around London for the last seven years. He's focussed on a number of topics like mental health, vaccination and cancer. We connected and it was really about making that connection in the community, him as a trusted leader, and having formed partnerships with some of the barbers who opened up their barbershops for filming these sessions and went way beyond that. One of them has actually trained as a counsellor himself because he said men are coming for a haircut and actually they have a bald head, they don't need the haircut, they're coming actually for the chat. Because it's benefitting their mental health and they felt able to open up about topics that they wouldn't talk about even at home with their family members or with their friends, such as symptoms of cancer, going for cancer screening or presenting for treatment if they were symptomatic. It's really powerful. We've actually filmed six videos with black and minority ethnicity patients, talking about their cancer experience and they've really both helped others by setting an example that it's okay to talk about these things. Also, through the process an added benefit was helping themselves, so it was peer support. When they came to the barbershop to film their stories, they didn't need to stay for the whole time but they did stay for the three hours. They said afterwards how helpful it was just to hear others in a similar situation sharing their stories. One of them told me he's got up on stage and shared his cancer journey and he's been going to these patient groups and talking when he didn't feel able to do that in the past. It's been a great project and we're going to be adding the videos to the CanGene-CanVar patient decision aid website soon. Another thing that we've done in the diet and lifestyle section of the website where it talks about things that people might do to lower their chances of getting cancer have partnered with Professor Ranjit Manchanda who had some colleagues in India and made some infographics that specifically depict patients of a South Asian heritage and the types of foods that they might be choosing to give examples of how they might for example try to get more fibre in their diet to lower the chances of getting bowel cancer or trying to eat more fruits and vegetables or drink less alcohol. It shows images of Indian patients. What people have told me in my research, my interviews, focus groups, is they tend to go and try to search for something that means something to them, so they're looking for someone like me. One of the patients I filmed she said that she had breast cancer as a young black woman and she was only middle-aged women on the websites. She thought why is this, do black women not get breast cancer or young women like me? For her to share her story was very brave but also has the potential to help a lot of other people in the community. Amanda: That's really powerful, so understanding those nuances in different cultures or communities or groups is just so crucial to really being able to also develop information or messages or provide care that's going to really reach those people where they are, I guess. This has been a really fantastic conversation. If we could end with a final question, it would be great to hear from your perspective just one thing that you'd like to see in the next five to ten years when it comes to care for inherited cancer susceptibility conditions. Helen, let's start with you? Helen: I think that in developing the guidelines one of the things that we've had to struggle or grapple with is a lack of evidence and the lack of the data that's available for some of these conditions. I'm really hoping that over the next five to ten years that we will see much more data on cancer risks and outcomes of surveillance progress for people who have an inherited predisposition. Then we can utilise that information to be able to share with patients to enable them to make best decisions about their care. There's a number of initiatives that are currently underway thinking about how we might better collect data on patients with inherited cancer predisposition in the UK, through registries, so I am really hoping that we manage to get some useful data that we can then use in our discussions with patients going forward. Amanda: Thank you. Kelly? Kelly: I think that over the next five to ten years as awareness and availability of genetic testing continues to increase, we know that there will be more and more families identified who have a higher genetic risk of getting certain cancers. We can't replace that personalised counselling that takes place, face-to-face or sometimes telephone and video appointments with a healthcare profession. So there are more resources needed for the NHS to deliver this. To compliment that, the patient website decision aid that we have co-designed is one way to help. What patients tell us they would like, access to a central trusted source of information that's up to date. Importantly in genetics it's very fastmoving, there's a lot of research, guidelines are changing, and it's very crucial to have information that's correct and relevant for people, and also meaningful. We can only do that by partnering together with patients and co-designing things rather than designing them and asking them afterwards if they're useful. It's a partnership all the way through that we all benefit from. As I said earlier, it's not a one-size-fits-all, decision-making is so personal and shared decision-making is recommended but we don't always have enough time in clinic to really address all of the issues that the patient might not have even thought about themselves. Having something like a patient-facing resource website booklet that they can look at in their own time, prepare for their questions that they really want to focus on in clinic, it might help give them the confidence to bring something up that they might not have otherwise. It's about a number of different ways of helping to support people. We've identified that there are gaps in care that we could try to help address if we have more resource in future. Those are my aspirations. Thank you, Amanda. Amanda: Thank you. And Rochelle, to you? Rochelle: I think for me I would like to have as many people as possible to understand or know about their genetic mutation status. We know people don't even know about the fact that they may have a genetic mutation that may make them more susceptible to cancers, and we know that even then if you do can you get access to testing to know whether you've got it or not. That is the most important thing. My mum, if she'd known that some of this was related, if she'd had that awareness that breast and ovarian cancer in your family was related to potential genetic risk, maybe she would have pushed harder to get testing and maybe she wouldn't have been tested when it's too late. In the end, all this knowledge and empowering people with knowledge, whether that be about empowering people with the knowledge that they may have a genetic mutation, there's a possibility of the genetic mutation, that these things are related and empowering people through the knowledge of knowing their genetic mutation status, all that is something that saves lives. From my view, it undoubtedly probably has saved my life and so my hope for the future is that we can empower more people like me and we can save more lives. Amanda: Thank you for our guests today Dr Helen Hansen, Rochelle Gold and Kelly Kohut. If you enjoyed today's episode, we'd love your support. Please subscribe to The G Word on your favourite podcast app and like, share and rate us wherever you listen. I've been your host, Amanda Pichini. This podcast was edited by Mark Kendrick at Ventoux Digital and produced by Naimah Callachand. Thanks for listening.

How genetic counselling can impact patient care

Play Episode Listen Later Dec 4, 2023 29:10

Joanne Isbister is a Certified Genetic Counsellor at the Royal Melbourne Hospital. Jo has over 15 years of experience as a genetic counsellor and has clinical experience in perinatal, paediatric, and adult genetics. After Identifying a gap in local services, Jo is developing a clinical service at the RMH to provide equitable access to psychiatric genetic medicine for those in need. In today's episode, Jo will explain what genetic counselling is and how it helps patients. She talks about the complexities of patient mental health histories and the implications of shame and stigma on patients. Jo also breaks down how genetic counselling can help mitigate some of the common fears for people living with mental illnesses around having children and passing on their genes. Connect: https://www.melbournewellbeinggroup.com.au/ http://www.drcelingelgec.com.au/ This show is produced in collaboration with Wavelength Creative. Visit wavelengthcreative.com for more information.

patients patient care royal melbourne hospital rmh genetic counselling

Amanda Pichini, Jonathan Roberts and Emma Walters: How can Genetic Counsellors improve care through research?

care research genetic walters world congress counsellors clinical lead g word jonathan roberts genomics england genetic counselling

Play Episode Listen Later Nov 9, 2023 51:02

Genetic Counsellors play an important part in healthcare and research. This Genetic Counsellor Awareness Day we focus on the role genetic counsellors have in research, to help improve care for patients and families. On this episode of the G Word, Amanda Pichini, Clinical Lead for Genetic Counselling at Genomics England, is joined by Emma Walters, member of the Participant Panel at Genomics England, and Jonathan Roberts, NHS Genetic Counsellor and Clinical Content Developer at Genomics England. Emma shares her personal story and our guests delve into the impact of not having access to genetic counselling. They explore how research priorities can be defined by bringing together both the genetic counsellors and what they're doing in their healthcare roles and the patients themselves and their experiences together. Johnathan will also be talking to genetic counsellors throughout this episode from the recent World Congress on Genetic Counselling. You can read the transcript here: Genetic-Counsellor-Awareness-Day.docx "I think another way in which research can really push that agenda forward is understanding who isn't accessing that [genetic] counselling. So when people get through the door and they experience genetic counselling, often that can be really valuable and they can suddenly start to make sense of all this testing, this family history. They can have a chance to talk about how they feel about it." With special thanks and acknowledgements to World Congress on Genetic Counselling and Wellcome Connecting Science for their contribution to this podcast including Genetic Counsellors, Manisha Chauhan, Alison McEwen, Jared Warde-Jospeh, Nour Chanouha, Jehannine Austin and Kennedy Borle.

Genetic counselling in an era of prenatal screening, tools to support patient informed consent

Illumina Genomics Podcast

Play Episode Listen Later Apr 3, 2023 11:42

patients screenings prenatal informed consent screening tools genetic counselling

Spreading the reach of genetic counselling through technology

School for Healthcare Entrepreneurs by Emitrr

Play Episode Listen Later Feb 3, 2023 33:14

About Emitrr Emitrr is an Omni channel (Texting, Webchat, Missed Calls, Google My Business, and more) messaging platform for your business. Emitrr helps some of the largest brands reduce call volumes in the call center by converting calls to messages across different channels and helping grow revenue for businesses. Check us out at emitrr.com About Andrew McCarty Andrew McCarty is a highly experienced genetic counselor and successful business owner with a deep-seated commitment to improving access to genetic information. His interest in genetics began at a young age of 7 and has since dedicated his career to providing equal access to genetic services through the use of innovative technology and clinical models. He founded Clover Genetics, an organization aimed at providing a comprehensive and personalized experience for individuals seeking diagnosis, preventative care, or answers related to genetics.

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#221 Genetic Counseling in South Africa with Samantha Bayley and Tina-Marié Wessels

DNA Today: A Genetics Podcast

Play Episode Listen Later Jan 27, 2023

In this episode we are chatting about the genetic counseling field in South Africa! Joining us for this discussion are two guests from the University of Cape Town (UTC), current student, Samantha Bayley, and UCT-professor, Tina-Marié Wessels. Special thanks to our social media intern, Kajal Patel, for recommending Samantha and Tina for this episode!Samantha Bayley is currently a second-year student in the MMedSc Genetic Counselling Program at the University of Cape Town. Originally from Johannesburg she moved to the Western Cape for her tertiary education. Samantha completed a BSc in Human Life Sciences with Psychology (2016-2018), BSc Honours in Human Genetics (2019) and MSc in Human Genetics (2020-2021), all at Stellenbosch University. Her honours and masters research focused on a rare condition called Mabry Syndrome, including identifying a novel deleterious variant in the gene PGAP3 and determining this variant to be a likely founder effect in the Xhosa population for Mabry Syndrome. This year Samantha will do a minor dissertation on 'Investigating the Opinions on Telephonic Advanced Maternal Age Genetic Counselling'. She created the @samthegc Instagram page to share her experience as a Genetic Counselling Student and raise awareness for the profession in Africa.Dr. Tina-Marié Wessels is an associate professor in the genetic counseling program at the University of Cape Town, where she has worked since 2014! Prior to teaching at UTC, Tina worked as a genetic counselor at the National Health Laboratory Service and the University of the Witwatersrand, where she received her MSc(Med) and PhD in genetic counseling.She conducted her PhD in association with the Health Communications Project and examined the communication aspects of the genetic counselling process in an antenatal multicultural context. Tina joined the Division of Human Genetics at UCT IN 2014 as senior lecturer in Genetic Counselling. Together with Prof Jacquie Greenberg, she runs the Masters programme in Genetic Counselling where she is involved in undergrad and postgraduate teaching. In addition to her academic role, she is involved in clinical service and counsels patients from Groote Schuur and Red Cross Children's Hospital.On This Episode We Discuss:Genetic counseling in South AfricaFactors that limit expansion of the genetic counseling field in South AfricaHow we can raise awareness in South African healthcare for genetic counselors and their services so that there is an increased amount of referralsPaying for genetic counseling consults in South AfricaRelationships with patient advocacy organizationsGenetic counseling degree programs in South Africa and how to applySam's experience as a genetic counseling student (which she shares on her Instagram!)Job requirements of being a genetic counselor in South AfricaAvailability of genetic counseling positions and paid internshipsThe process to order genetic testing in South Africa Public sector versus private sector How they envision the field changing in the next five yearsTo learn more about genetic counseling in South Africa, check out this blog post from My Gene Counsel which features genetic counselors from South Africa as Trailblazing genetic counselors! You can also follow Sam's Instagram account @samthegc, to learn more about the day-to-day life of a genetic counseling student in South Africa! Kira also mentioned a couple other episodes during the recording…#117 Dr. Janina Jeff (In Those Genes Podcast) on African Genomes#216 African American Ancestry with Nicka SmithShoutout to our Social Media Intern, Kajal Patel, for introducing us to Samantha Bayley and making this episode happen! Stay tuned for the next new episode of DNA Today on February 3rd, 2023 where we are kicking off our rare disease awareness month celebrations by discussing Wilson's disease with Naseem Amin of Orphalan! New episodes are released every Friday. In the meantime, you can binge over 220 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. We are looking forward to celebrating rare disease awareness month this February on DNA Today. Our first episode will be about Wilson's disease. The CEO of Orphalan joins the show to provide a major update on treatment for those with the condition. A new FDA approved drug!Mark your calendar for February 3rd, that's when this episode about Wilson's disease will drop, it will be Episode #222. Get a head start on learning at orphalan.com. (Sponsored)As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens (Sponsored)If you've been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I'm drinking is from Four Sigmatic. I'm really picky about my coffee, it's got to be bold, not watery. And I've been really happy with Four Sigmatic. Here's the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don't taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that's FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)

TFMR: Genetic Counselling

Time To Talk TFMR

Play Episode Listen Later Nov 22, 2022 56:09

Hello! In today's episode, we're talking with Dagmar Tapon, a genetic counsellor and Jane Fisher, Director of Antenatal Results and Choices, about genetic counselling.We talk about the technical stuff, like the difference between genes and chromosomes, the limits to testing, options for future pregnancies, the emotional and mental load that both testing and coping can bring...and much more.Dagmar mentions the HFEA as a resource for statics about IVF in the UK:Human Fertilisation and Embryology Authority gives impartial, accurate information about IVF, clinics and other fertility treatments from the UK government fertility regulator:https://www.hfea.gov.uk/Get in touch and let us know what you think. Social media: Instagram and Facebook @TimeToTalkTFMR and Twitter @TalkTFMREmail is TalkTFMR@yahoo.comThis episode is supported by Antenatal Results and Choices. For more information on how they support women and couples click here or call them on 0207 713 7486.

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What role do genetic counsellors play in healthcare?

president genetic counselling

Play Episode Listen Later Nov 10, 2022 47:53

Genetic counsellors are a highly specialised group of healthcare professionals, who have the expertise to help patients and families understand complex information relating to genomics, as well as provide guidance and emotional support. Whether that's to understand their family history, make informed choices about genetic testing, or come to terms with a result or a new diagnosis. As genomics becomes more commonly used in health care, more and more people are likely to require genetic counselling and more healthcare professionals need to rely on their expertise. You can find our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Genetic-Counsellors.docx "What we're really here for, is to be able to explain something that's really quite complicated science, and how that fits into your life, your family, your values and your decision-making." Today on The G Word, Amanda Pichini, Clinical Lead for Genetic Counselling at Genomics England, is joined by Dave McCormack, member of the participant panel to Genomics England, Sara Levine, consultant, a genetic counsellor at the Centre for reproductive and genetic health and chair of the Association of genetic nurses and counsellors. Janice Bailey, a cardiology clinical nurse specialist and preregistration genetic counsellor, and Heather Pierce, a genetic counsellor with a neural net Project at the University of Cambridge.

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Genetic Counselling: What, Why, and For Whom?

BFM :: Health & Living

Play Episode Listen Later Nov 10, 2022 41:09

In conjunction with Genetic Counselor Awareness Day on 10 November - which is observed on the second Thursday in November each year - Yoon Sook Yee, certified genetic counseller and President of the Genetic Counselling Society Malaysia, joins us to share why genetic counselling is becoming increasingly important in modern healthcare, and the path towards training more genetic counsellors.Image Credit: Facebook/Genetic Counselling Society Malaysia-GCSM

Genetic Counselling & DNA with Kira Dineen (#47)

STEAM Powered

Play Episode Listen Later Sep 7, 2022 57:35

Kira Dineen, MS, LCGC, CG(ASCP)CM, has a decade of podcast experience fueled by a passion for science communication. She has hosted and produced 6 podcasts. Her main show, "DNA Today", is in the top 1% of podcasts globally. Listeners Discover New Advances in the world of genetics through Kira's interviews about genetic technology, disorders, and news. The show won the Best 2020 and 2021 Science and Medicine Podcast Awards. "DNA Today" has produced nearly 200 episodes. In our conversation, we talk about Kira's journey to genetics, genetic counselling, and what we can and can't learn from DNA testing kits. Show Notes: https://steampoweredshow.com/shows/kira-dineen [00:01:27] Kira's affinity for the field of genetics. [00:04:19] Where Kira saw herself in the field. [00:04:52] Labs are not the only career path in genetics. [00:07:11] The value of shadowing. [00:08:11] Hear from or speak to people in the field and ask questions. [00:08:52] We need a career speed-dating service. [00:10:03] What is genetic counselling? [00:13:42] When would you start the process of speaking with a genetic counsellor? [00:16:41] The two general categories of genetic conditions. [00:21:15] How Direct-to-Consumer DNA testing kits work. [00:24:14] Individual hotspots vs polygenic risk scores. [00:26:46] Our understanding will become more refined as we gather more data. [00:30:04] Kira's podcasting journey. [00:36:26] Podcasting opens doors and creates connection. [00:39:53] Why science communication is important to Kira. [00:46:39] Bonus Question 1: What hobby or interest do you have that is least related to your field of work? [00:47:30] Bonus Question 2: Which childhood book holds the strongest memories for you? [00:48:47] Bonus Question 3: What advice would you give someone who wants to do what you do? And what advice should they ignore? Connect with STEAM Powered: Website | YouTube | Facebook | Instagram | Twitter | Patreon | Ko-Fi

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Genetic Counselling for Leber Hereditary Optic Neuropathy Patients and Their Families

Keeping Current

Play Episode Listen Later Aug 19, 2022 34:02

Do you know how to effectively support families with Leber hereditary optic neuropathy (LHON)? Listen to our expert faculty provide tips on genetic testing and counselling. Credit available for this activity expires: 08/18/23 Earn Credit / Learning Objectives & Disclosures: https://www.medscape.org/viewarticle/979332?src=mkm_podcast_addon_979332

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#189 Building Inclusive Pedigrees with PhenoTips

DNA Today: A Genetics Podcast

Play Episode Listen Later Jun 17, 2022

To celebrate Pride month our next two episodes will be focused on the LGBTQIA+ community. In this episode we explore building inclusive pedigrees with Dr. Orion Buske and Erica Peacock of Phenotips.The PhenopTips name might seem familiar as our host, Kira Dineen, is also the host of the PhenoTips Speaker Series, which is a live webinar about genetic topics (including a live Q&A), then it's released as a podcast. Watch previous Speaker Series here, or search “PhenoTips Speaker Series” where you get your podcasts to listen!As a queer member of the LGBTQIA+ community, our host Kira Dineen is so excited to talk about building inclusive software for genetic counseling in this episode, especially in the spirit of Pride month! Next week we are sharing the recording of yesterday's June Installment of PhenoTips Speaker series, which pairs very nicely with this conversation as it's about improving gender-affirming care in genetic counseling and features two fellow genetic counselors and patient advocate! Dr. Orion Buske is the CEO of Phenotips. He holds a PhD in Computer Science from the University of Toronto, where he specialized in algorithms for genome analysis and rare disease patient matchmaking. He co-leads the Global Alliance for Genomics and Health Pedigree standard working group.Erica Peacock is the genetics workflow consultant at PhenoTips. She holds an MSc in Genetic Counselling from the University of British Columbia, and she is certified by the American Board of Genetic Counseling. On This Episode We Discuss:Why it's important to denote someone's sex assigned at birthIncorporate same sex couples utilizing a donor or donors to concieve in pedigreesBest ways to indicate that someone is transgender on pedigreesRepresenting gender non-conforming or non-binary people on pedigreesMaking note of family members's pronouns PhenoTips features to support genetics professionals and the LGBTQIA+ community How pre-visit questionnaire aids with time saving accurate pedigrees Check out the GH4GH that Orion mentioned during the interview, including those meeting notes. Be sure to follow PhenoTips on Twitter, Facebook. We also recommend following Orion Buske and Erica Peacock on Twitter. Stay tuned for the next new episode of DNA Today on June 24, 2022 where we'll be dropping an installment of the PhenoTips Speaker Series! The topic of this week's series is building gender affirming care in genetic counseling! New episodes are released on Fridays. In the meantime, you can binge over 185 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)HemoShear Therapeutics is a clinical stage company developing new treatments for patients with rare metabolic disorders. By partnering with fellow biopharma companies, HemoShear is accelerating their drug discovery and development programs in metabolic disorders, and also liver diseases and gout. HemoShear is currently conducting a clinical trial for a new therapy for propionic and methylmalonic Acidemia. Learn more about these conditions and the clinical trial in an upcoming episode of DNA Today! You can also visit hemoshear.com. (SPONSORED)In my free time during the summer I am usually with friends at our apartment's pool. My spot is right next to the water reading a book, most recently “A Crack In Creation”, which might come up in a future episode. I like keeping cool by sipping on some ice tea while I read, but I don't like all the sugar. So I've been enjoying Sound drinks instead. Sound makes unsweetened, organic sparkling waters made with tea and botanicals. No natural flavors or sugar. My fav is the blueberry with cinnamon and hibiscus tea. Try it out by ordering at DrinkSound.com using promo code DNATODAY for 20% off! Plus you are supporting the podcast. (SPONSORED)A bunch of my friends at my apartment have dogs and I love being able to offer them a treat when I take them for a walk or when they visit my place. So I got Sundays for Dogs. Now this is dog food, but can also be used as dog treats. My friend Annie's dog, Frank, gets so excited when he sees me, and if I'm being honest, I think it's more the food than me. Sundays For Dogs is real food formulated by a Vet with high quality meat, veggies, fruit and superfoods, then air-dried to perfection. Since you are a DNA Today listener, you can visit SundaysForDogs.com and use code “DNATODAY” for 35% off your first order. Support your pup and the podcast! (SPONSORED)

#4. Born with it: Genetics and Genetic Counselling - Dr. Qurratulain Hasan

Smooth Brain Society

Play Episode Listen Later May 23, 2022 79:42 Transcription Available

For our first international interview, we called in to Hyderabad, India and spoke to Dr. Qurratulain Hasan, Founder and President of the Board of Genetic Counselling, India. Dr. Hasan gave us an introduction into the field of genetic counselling, the relevance of genetics in public health setups across the world and the growing importance of it in medical setups. We also cover her international work looking at DNA data sovereignty.Support us and reach out!https://smoothbrainsociety.comInstagram: @thesmoothbrainsocietyTikTok: @thesmoothbrainsocietyTwitter/X: @SmoothBrainSocFacebook: @thesmoothbrainsocietyMerch and all other links: Linktreeemail: thesmoothbrainsociety@gmail.com

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OSCE Revision: Paediatrics- Genetic Counselling

The Unofficial Guide to Medicine Podcast

Play Episode Listen Later May 13, 2022 7:28

Dr Ronan gives us top tips on how to tackle a genetic counselling station

revision paediatrics osce genetic counselling

Michelle Britbart QC

William & Lonsdale: Lives in the Law

Play Episode Listen Later May 11, 2022 42:47

Today our guest is barrister Michelle Britbart QC. Michelle practises primarily in common law, insurance law, public liability and personal injuries litigation, running trials in both the Supreme and County Courts. For many years Michelle grew her practice whilst also being a single mother to two young children. And on top of that, she managed to gain a Graduate Diploma of Genetic Counselling and a Masters in Health and Medical Law. www.greenslist.com.au/podcast

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Amanda Pichini: Genetic Counselling

g word genomics england genomes project genetic counselling

Play Episode Listen Later Mar 23, 2022 35:09

“It's not just talking about a genetic test, testing parents to see if they're carriers after their child's been diagnosed or talking about reproductive options when people want to have another child - it's a lot more than that. It's navigating those difficult decisions in a situation where there's a genetic risk or someone has been diagnosed with something and they need to know if it's going to have an impact on their life and future.” In this week's episode of The G Word, Chris Wigley is joined by Amanda Pichini, Clinical Lead for Genetic Counselling at Genomics England. They discuss genetic counselling, The 100,000 Genomes Project and uncertainty in genomic medicine. They also discuss the impact of genomics on young people and her early career.

Jonathan Roberts: providing genetic counselling for parents

RNZ: Saturday Morning

Play Episode Listen Later Dec 10, 2021 35:17

Huge advances in genetics mean prenatal testing for conditions such as Down syndrome can now be done faster and with much less risk. That is where genetic counsellors like Jonathan Roberts come in.

parents providing jonathan roberts genetic counselling

Jonathan Roberts: providing genetic counselling for parents

RNZ: Saturday Morning

Play Episode Listen Later Dec 10, 2021 35:17

Huge advances in genetics mean prenatal testing for conditions such as Down syndrome can now be done faster and with much less risk. That is where genetic counsellors like Jonathan Roberts come in.

parents providing jonathan roberts genetic counselling

November 15, 2021 - AB Childcare Deal; Canada 5G; Queer Evangelist; Psychiatric Genetic Counselling

Real Talk

Play Episode Listen Later Nov 15, 2021 115:50

13:34 | Computer security expert Dr. Tom Keenan on possible exclusion of Chinese vendor, Huawei Technologies, from Liberal government's plans and policy on next-generation 5G mobile networks in Canada. 23:03 | Families, Children & Social Development Federal Minister Karina Gould shares about today's announcement around affordable childcare coming to Alberta. 38:05 | Reverend Dr. Cheri DiNovo details pushing and leading the church and government for equality and representation for those in the 2SLGBTQ community. 1:07:20 | From the world's first specialist psychiatric genetic counselling clinic, Dr. Jehannine Austin explains how genetic counselling for people living with psychiatric disorders helps lessen stigma and shame. 1:33:39 | Question of the Week | Ryan reviews Real Talkers' thoughts on marking Remembrance Day, what it means to and how feelings may have changed over time. Presented in partnership with Y Station. 1:51:02 | Positive Reflections | A look back at Real Talk's Remembrance Day Special and the significance of sharing about loss, sacrifice and resilience. Presented by Kuby Energy

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Driving the future of work with passion featuring Nicole Scoble-Williams

Lawyer on Air

Play Episode Listen Later Nov 7, 2021 76:51

Have you always wanted to be a lawyer but given up on your dream thinking it was too late? Well my guest, Nicole Scoble-Williams is going to show you how absolutely anything is possible with her amazing career to date that traverses software engineering and IT, genetic counselling to law and the future of work. We certainly have a futuristic episode for you! If you enjoyed this episode and it inspired you in some way, we'd love to hear about it and know your biggest takeaway. Head over to Apple Podcasts to leave a review and we'd love it if you would leave us a message here! In this episode you'll hear: How Nicole went from “struggling” in maths, to studying software engineering and genetics The day her life changed when she noticed a certain ad in the morning newspaper Nicole's secret for attracting opportunities How Nicole started studying the law as a way to follow her passion What is the future of work and the implications for the future of work in the law Nicole's advice for making decisions or considering opportunities Her favourite books and other fun facts About Nicole Nicole is a lawyer qualified in the State of New South Wales in Australia and is a Partner with Deloitte in Japan and leads Deloitte's Future of Work business for the APAC region. Nicole has a Masters of Science in Genetic Counselling as well as a Bachelor of Arts majoring in Software Engineering and Criminology. Nic also has a Diploma in Quality Auditing and is certified in Virtual Alternative Disputes Resolution. She has more than 20 years cross industry experience in information technology services in talent strategy and advisory and in mergers and acquisitions. Nicole helps to activate adaptable and resilient businesses and her careers so far have gone through harnessing the collective intelligence of humans working productively with smart technology. Nicole works with individuals, businesses, and governments. She helps them to re imagine their future vision and to adapt to the constantly evolving new realities of work in today's digital age of perpetual disruption. Nicole is a published author of several publications such as the Deloitte 2021 Global Human Capital Trends Short Report on the Worker-Employer Relationship Disrupted: which asks if we are not a family what are we? Connect with Nicole LinkedIn:https://www.linkedin.com/in/nicole-scoble-williams/ Links Steven Covey: The 7 Habits of Highly Effective People: https://www.amazon.co.jp/Habits-Highly-Effective-People-Powerful/dp/0743269519 Linda Gratton, Andrew J. Scott: The New Long Life: https://www.amazon.co.jp/New-Long-Life-Framework-Flourishing/dp/1526615177 Deloitte 2021 Global Human Capital Trends Short Report on the Worker-Employer Relationship Disrupted: which asks if we are not a family what are we? Connect with Catherine Linked In https://www.linkedin.com/in/oconnellcatherine/ Instagram: https://www.instagram.com/lawyeronair

Michelle Bishop: Genomics education and genetic counselling

education nhs genomics g word genetic medicine michelle bishop genetic counselling

Play Episode Listen Later Sep 23, 2021 33:14

“What I found about genetic counselling was that whilst you might learn about the science or the condition or inheritance patterns - things that may stay constant - depending on who you're seeing, the families that are coming in to see you or the patients that are coming in to see you will all have a different story.” In this week's episode of The G Word #sciencepodcast, our CEO Chris Wigley is joined by Michelle Bishop, Education Development Lead for the Genomics Education Programme and council member at the British Society for Genetic Medicine. Having been involved in genetics and genomics education for over 15 years, Michelle has authored over 40 genomics education resources and 15 peer-reviewed papers, developed specialist NHS training curricula and competency frameworks and provided educational and clinical expertise to national projects as part of the NHS's transformational adoption of genomic medicine. Today Michelle talks about ensuring healthcare professionals have access to the right type of education and training, engaging with people beyond the scientific community and genetic counselling. She also discusses her background and her learner centred approach.

June 28, 2021 - Genetic Counselling; Lack of Openly Gay Athletes in Sport; Dr. Eva Jewell

Real Talk

Play Episode Listen Later Jun 28, 2021 126:49

6:41 | Genetic Counsellor Alessandra Cumming explains the complexities of genetic testing and the role her profession plays. 43:40 | Question of the Week Results 56:47 | Addressing the lack of openly gay athletes in professional sport, with former OHL and professional hockey player Brock McGillis and The Hockey Writers' journalist Paul Quinney. They unpack why hockey culture makes it so hard for queer players to come out and what needs to change. 1:33:50 | Dr. Eva Jewell with the Yellowhead Institute shares about the Calls to Action Accountability: A 2020 Status Update on Reconciliation she co-authored on the five year mark of the TRC document being released. 2:03:36 | Starting the week with Positive Reflections courtesy of our friends at Kuby Energy.

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Christine Patch: The value of data

president uk society data rare examining patch european society human genetics clinical lead g word genomics england genetic counselling

Play Episode Listen Later Jun 2, 2021 39:18

“Rare disease families really understand that data is important. Examining the family's genetics and bringing together groups of people with individual rare diseases to examine their genetics, and try and understand what's going on, has the potential to lead to both diagnosis and potential treatments. So they understand the power of data.” In this week's episode of The G Word, Chris Wigley is joined by Christine Patch, Clinical Lead for Genetic Counselling at Genomics England and Principal Staff Scientist in Genomic Counselling at the Society and Ethics Research group. An early advocate of genetic science, she became one of only 30 genetic nurses in the UK in 1989, and has subsequently worked as President of the European Society of Human Genetics and sat on the Human Genetics Commission. Today, Christine talks about patient confidentiality and the code of duty, her early career in genetics and her role as Caldicott Guardian at Genomics England. She also discusses the intricacies of patient choice and the priorities for rare disease families.

Episode 6: Book

WTCF! A Cystic Fibrosis Podcast

Play Episode Listen Later Apr 26, 2021 51:22

Ingrid chats to Eilís Moroney, the author of 'Our Baby Has 65 Roses' and mum of a little person with CF - two-year-old AibhÍn, about diagnosis and how writing a book was her coping mechanism. Listen to the podcast for your chance to win a copy of the book, and email your answer to wtcfpod@gmail.com. You can also purchase the book here. Find out more about CFNZ here to access resources. What the CF! A Cystic Fibrosis Podcast was born out of a curiosity to learn more, support others, tell stories and share experiences while we navigate our own CF journey. Series one of the podcast will focus on diagnosis and will feature conversations with Cystic Fibrosis medical experts, CFNZ, Genetic Counselling, and more. Ingrid and Ian's story: “When our son was diagnosed with Cystic Fibrosis at six months old we were shocked and devastated. The road to diagnosis took several painful weeks. What started with kisses on salty skin soon became a persistent cough prompting many GP visits and eventually an X-Ray - the results of which opened the gates to the possibility of CF. From the first moment seeing his foggy little lungs, we knew this was gonna be a rollercoaster and we weren't wrong. Only a week after diagnosis we were chucked into the COVID lockdown left to digest this huge news within our wee family. The overwhelm was real, and although the team at the hospital were amazing, it was the online community of CFers and their families where we found an abundance of warmth and understanding.” What the CF! A Cystic Fibrosis Podcast is currently seeking funding and taking donations, 10% of which will go to Cystic Fibrosis New Zealand. For more information contact Ingrid on wtcfpod@gmail.com --- Send in a voice message: https://anchor.fm/what-the-cf-pod/message

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GENETIC COUNSELLING WITH KATHERINE HOLZER

THE BODCAST - KENYA

Play Episode Listen Later Mar 14, 2021 50:37

In this episode we are joined by a very interesting guest, Katherine Holzer who is a Genetic Counsellor in the States. So first things first we find out what exactly Genetic Counselling is and why Katherine chose this fascinating field. She takes us through common genetic conditions that are tested and why genetic counselling is so beneficial. The different types of genetic tests from at home ones to those done in the lab and the pros and cons of each. We discuss price ranges and testing times. If DNA testing for food allergies/ intolerances or to prescribe a certain diet lives up to its hype. We look into the limitations of genetic testing and its future. This was a really eye opening podcast for us all and again highlighted the importance of health needing a multidisciplinary and holistic approach. We hope you enjoy it!

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8: Genetic Counselling (with Jacqueline Leonard)

So You Got A Lifesci Degree

Play Episode Listen Later Dec 14, 2020 76:04

This episode, we chat with Jackie about her role as a genetic counsellor at the Children's Hospital of Philadelphia! Some of what she says may surprise you - such as how just how much "counselling" can go into the job sometimes. Plus, we talk about her work involving intersex genetic etiologies and differences in sex development. Episode transcript Brittany M Art website: www.brittanymart.etsy.com Brittany M Art Facebook: https://www.facebook.com/ Brittany M Art Instagram: https://www.instagram.com/brittanymart Direct Subscription Doctor Model Article: https://www.mrmoneymustache.com/2020/11/09/direct-primary-care/ Diagnosis on Netflix: https://www.netflix.com/ca/title/80201543 Email: soyougotalifescidegree@gmail.com Webpage: https://anchor.fm/soyougotalifescidegree Patreon: https://www.patreon.com/soyougotalifescidegree?fan_landing=true Rate us on Apple Podcasts: https://podcasts.apple.com/ca/podcast/so-you-got-a-lifesci-degree/id1531348565 Music copyright notice: No Regrets (2015) - Royalty-Free Music by https://audiohub.com

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Genetic Counselling, Aerosol Transmission, and COVID-19 Awards

Radiotherapy

Play Episode Listen Later Nov 29, 2020 50:02

Lauren Thomas, Associate Genetic Counsellor at the Victorian Clinical Genetics Service, discusses the role of genetics counsellors, and her study involving parents with kids living with genetic conditions; the team canvass the differences between aerosol and airborne COVID-19 virus transmission; and to top off the show, the team presents the 2020 COVID-19 Radiotherapy Awards. With presenters Panel Beater, Dr Sharma, and Dr Neo.Website: https://www.rrr.org.au/explore/programs/radiotherapyFacebook: https://www.facebook.com/RadiotherapyOnTripleR/Twitter: https://twitter.com/_radiotherapy_?lang=enInstagram: https://instagram.com/radiotherapy_tripler?igshid=3944brpx7l0g

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Singer-songwriter Lisa Simone, Women in the horror films industry, What is it really like being a teenage mum?

Woman's Hour

Play Episode Listen Later Nov 2, 2019 56:48

Lisa Simone, songwriter, singer and daughter of Nina tells us all about her new album. Maddy Prior the folk singer and member of Steeleye Span talks about a career in music that's spanned more than 50 years. At BBC Introducing Live we look at how to get into the music business and once you're there how to thrive. Plus what’s it really like to be a teenage mum? Genetic Counselling – how do families deal with the news that the man they thought was dad isn’t biologically related? Women in the horror films industry what’s behind their creations? And author Jenny Downham joins on her latest novel Furious Thing about a fifteen year old girl struggling with her feelings of anger. Presenter Jane Garvey Producer Rabeka Nurmahomed Editor Beverley Purcell Guest; Lisa Simone Guest; Maddy Prior Guest ; Jenny Downham Guest; Chyna Powell-Henry Guest; Dr Kim Jamie Guest; Aislinn Clarke Guest; Anna Bogutskaya Guest; Lizzie Franke Guest; Nicola Dunn

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EP 15 DNA Today host Kira Dineen discusses Genetic Counselling

The Genetics Podcast

Play Episode Listen Later Aug 23, 2019 2052:45

This week on our podcast we speak to Kira Dineen, a genetic counsellor in training and host of DNA Today. We ask Kira what she's learned from more than 200 hours of conversation with leading doctors and researchers in genetics, as well as some questions about genetic counselling and her experience. This is part one of a special two-part episode. The other half of the podcast will be featured on DNA Today so make sure you head over to DNA Today for the rest!

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EP 15 DNA Today host Kira Dineen discusses Genetic Counselling

The Genetics Podcast

Play Episode Listen Later Aug 23, 2019 34:12

This week on our podcast we speak to Kira Dineen, a genetic counsellor in training and host of DNA Today. We ask Kira what she’s learned from more than 200 hours of conversation with leading doctors and researchers in genetics, as well as some questions about genetic counselling and her experience. This is part one of a special two-part episode. The other half of the podcast will be featured on DNA Today so make sure you head over to DNA Today for the rest!

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#97 Genetic Counseling Grad School Interviews, Ranking, Matching (Part 2)

DNA Today: A Genetics Podcast

Play Episode Listen Later Jan 4, 2019 34:30

A panel of four incoming genetic counseling graduate schools discuss the application process. This is part two of two podcasts, discussing the second portion of the application cycle: interviews, ranking, and matching. Episode 87 was the first part of this conversation where we discussed how to gather the experience and classes to have a competitive application.We also surveyed over 50 incoming genetic counseling students (enrolling Fall 2018) who went through the last application process, which was also the first time the Match System was used. Their feedback has also been summarized on episode 87’s blog post . We hope prospective and applying students find this summary and these two episodes helpful!On This Episode We Discuss:Overall Application TimelineSchools Applied vs Interviews Invites ReceivedPreparation Strategies for InterviewsA Typically Interview Day ScheduleTypes of Interview QuestionsMethods to Keep Track of Schools/InterviewsHow the Match System WorksFactors Used to Assess and Rank ProgramsReasons for Our Number 1 PickMatch OutcomesThe PanelKira Dineen hosts DNA Today: A Genetics Podcast (and radio show), which was founded in 2012 and features nearly 100 episodes interviewing genetic counselors, patient advocates and other genetic experts. The show was nominated in the 2015 and 2016 Podcast Awards. She also hosts other healthcare podcasts including Advancing Dentistry and Insight Says: A Mental Health Podcast. Kira is the Communications Lead at My Gene Counsel, a digital genetic counseling company. She is also a member of National Society of Genetic Counselors’ Digital Ambassador Program (aka #NSGCGenePool). Kira received her Bachelor's of Science degree in Diagnostic Genetic Sciences with a concentration in Cytogenetics at the University of Connecticut. She is in Sarah Lawrence College’s Genetic Counseling Class of 2020.Brynna Nguyenton is a first year genetic counseling student at The Keck Graduate Institute. She earned her BS in Biology with a minor in Cognitive and Behavioral Neuroscience from San Diego State University in 2016. Brynna’s professional interests include accessible healthcare, neuropsychiatric and cancer genetics, and promoting scientific literacy and education in the community. She is also the lead staff contributor of the genetic counseling blog, Maps and Genes. Outside of genetic counseling, she enjoys thrift shopping, traveling and trying new foods, and spending time outdoors with her Husky/Shepherd puppy, Kenobi.Katie Church is a member of the 2020 Genetic Counseling class from The University of Alabama at Birmingham. Originally from Colorado, in 2017 she graduated with a Bachelors of Science in Biology with minors in Psychology and Spanish from the University of Nebraska-Lincoln. Throughout undergrad she spent time volunteering with adaptive recreation and a domestic violence hotline, helping with research, shadowing various genetic counselors, and staying active in her sorority. Post graduation she worked as a research assistant in a fly genetics lab and a high school cheer coach.Brianna Van den Adel was born and raised in the small northern town of Kitimat, B.C., Canada. She received her Bachelor of Science in Biochemistry & Molecular Biology and Psychology at The University of Northern British Columbia in 2017. With her acceptance into the Master of Genetic Counselling program at The University of British Columbia, she looks forward to completing her degree and working towards introducing the field of genetic counselling to Prince George, and serving the northern communities of British Columbia.Stay tuned for the next new episode of DNA Today on February 1st. As announced last month, the updated 2019 release schedule is new episodes on the first Friday of every month. See what else I am up to on Twitter, Instagram, Facebook and iTunes.Don’t forget to check out the first part of this conversation in episode 87 where we discuss how to gather the experience and classes to have a competitive application.Questions/inquiries about the application process for the four of us can be sent to info@DNApodcast.com. Interested in getting in contact with a current student at a specific school? Shoot us an email and we will work our networks to try and connect you! Don’t hesitate, we love networking with fellow future genetic counselors. We look forward to seeing some of you at your interviews!

Demystifying Genetics for Hereditary Breast and Ovarian Cancer Week

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Play Episode Listen Later Oct 2, 2018 77:15

This week is Hereditary Breast and Ovarian Cancer Awareness and I was lucky enough to have three fabulous guests on Demystifying Genetics. First Guest – Ellen Matlof, Genetic Counselor & Director, My Gene Counsel Ellen is a genetic counsellor extraordinaire in Connecticut, USA, with many years experience working in the familial cancer setting. We discuss: • The role of the Genetic Counselor and their role in the ordering and interpretation of genetic results • What a gene is and what variants in a gene means • The My Gene Counsel Living Lab Report • Hereditary cancer testing including BRCA1 & BRCA2 • APOE testing and dementia • Gene patenting • Case studies of misinterpretation of genetic results due to no genetic counsellor being involved Second Guest- Nicole I go on to speak to Nicole. She has recently found out she has a BRCA2 mutation and was lovely enough to come on the podcast to share her story. We talk about how she came to have genetic testing, the impact it has had on her life and that of her family. Third Guest – Krystal Barter – Founder of Pink Hope Krystal has a very strong family history of breast cancer and she found out she had a BRCA1 mutation at 21. After having a preventative double mastectomy, Krystal founded an online support organisation called Pink Hope. Pink Hope is a fabulous resource.

Demystifying Genetics with Kristine Barlow - Stewart

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Play Episode Listen Later Jul 14, 2018 34:14

In this podcast I was lucky enough to speak to Kristine Barlow – Stewart. Kris has been a genetic counsellor in Australia for many years. Kris is highly involved with genetics education and this is what we have a good chat about. We explore issues such as genetics education, evidence based genetic counselling research and the diagnostic odyssey. We also discuss the management of uncertainty in genetic counselling and the future of this profession.

Demystifying Genetics with Lucinda Freeman

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Play Episode Listen Later Jun 30, 2018 38:31

Lucinda is a fabulous genetic counsellor who I was lucky enough to study with back in 2004. We attended a conference last year in Cambridge, UK and before the start of the conference we spent a few days in Paris together where this photo was taken. Lucinda was granted a Churchill Fellowship in 2016. She spent a number of weeks visiting clinical genetics services in the USA and UK in 2017 and the report, which Lucinda authored is entitled “To gain a strong evidence base for counselling patients about whole genome testing - USA, UK”.

Demystifying Genetics with Jane Tiller

Play Episode Listen Later Jun 16, 2018 36:37

Demystifying Genetics with Jane Tiller This podcast can be accessed via Apple iTunes Podcasts at https://itunes.apple.com/au/podcast/demystifying-genetics/id1387090904 or on Buzzsprout at http://demystifying-genetics.buzzsprout.com/ I was lucky enough to record this podcast with Jane Tiller in the studio in Melbourne. The photo is a selfie of us outside the studio. Jane and I discussed direct to consumer testing, life insurance and genetics and the tristate killer. Listen in for an interesting conversation about genetics and ethics. One of the topics we discussed was genetic sexual attraction. Wikipedia has an interesting page on this topic https://en.wikipedia.org/wiki/Genetic_sexual_attraction Jane can be found at https://www.linkedin.com/in/jane-tiller-13675728/

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Demystifying Genetics with Yasmin Bylstra

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Play Episode Listen Later Jun 2, 2018 30:56

I had the pleasure of catching up with Genetic Counsellor Yasmin in this latest podcast. Yasmin discussed many issues related to genetic counselling including pharmacogenomics and genetic conditions hypercholesterolemia and cardiac genetics. More info can be found at https://www.insightgenomica.com.au/podcasts/

Demystifying Genetics with Ron Fleischer

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Play Episode Listen Later May 20, 2018 26:26

It was a pleasure having Ron as my first guest on my podcast. We covered many topics including Ron's private genetic counselling practice in Sydney, Australia, what genetic counselling actually is, prenatal genetic counselling, expanded carrier testing and the professional body for clinical genetics in Australia; the Human Genetics Society of Australasia. More info can be found at https://www.insightgenomica.com.au/podcasts/

Demystifying Genetics with Matt Burgess

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Play Episode Listen Later May 18, 2018 25:47

This is the first podcast in a series called Demystifying Genetics where I, Matt Burgess, Genetic Counsellor am interviewed by my partner Daniel Goodfellow. Podcasts to follow will have me interviewing genetic counsellors and others working in or involved with genetics. More information can be found at https://www.insightgenomica.com.au/podcasts/

Genes for all

Naked Genetics - Taking a look inside your genes

Play Episode Listen Later Jun 13, 2016 30:00

Genes, genomes and genetic technology are playing increasingly important parts in our lives, industries, food and healthcare, and at a point in the not-too-distant future we're probably going to have to grapple with at least some of the contents of our DNA. But is the public really prepared to look inside its genes? Plus, the company aiming to bring molecular biology labs for all, and our gene of the month is crunchy on the outside. This is the Naked Genetics podcast for June 2016 with me, Dr Kat Arney, brought to you in association with The Genetics Society, online at genetics.org.uk. Like this podcast? Please help us by supporting the Naked Scientists

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DBS in essential tremor, and genetic counselling for ALS

JNNP podcast

Play Episode Listen Later May 22, 2014 22:34

This month, genetic counselling for amyotrophic lateral sclerosis (ALS). Adriano Chiò, Turin ALS Expert Center, ‘Rita Levi Montalcini’ University of Turin, tells us what it can and can't do, who should have it, and how to go about it.And deep brain stimulation for essential tremor. Joseph Jankovic, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, explains what his study on long-term outcomes reveals.Read the papers:Genetic counselling in ALS: facts, uncertainties and clinical suggestions http://goo.gl/bYaqtQThe safety and efficacy of thalamic deep brain stimulation in essential tremor: 10 years and beyond http://goo.gl/OhCsIh

MF - Episode 7 - Meagan

Making Friends with Toby and Bryan

Play Episode Listen Later Jan 5, 2014 63:56

Today we sit down with Meagan. We discuss genetic counselling, the healthcare system and her life-changing diagnosis and battle with leukaemia.

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Gene testing

Gene testing - for iBooks

Play Episode Listen Later Jun 5, 2011

This Unit looks at three different uses of genetic testing: pre-natal diagnosis, childhood testing and adult testing. Such tests provide genetic information in the form of a predictive diagnosis, and as such are described as predictive tests. Pre-natal diagnosis uses techniques such as amniocentesis to test fetuses in the womb. For example, it is commonly offered to women over 35 to test for Down's syndrome. Childhood testing involves testing children for genetic diseases that may not become a problem until they grow up, and adult testing is aimed at people at risk of late-onset disorders, which do not appear until middle age. In addition, we address some of the issues involved in carrier testing, another predictive test. This involves the testing of people from families with a history of genetic disease, to find out who carries the gene, and who therefore might pass the disease onto their children even though they themselves are unaffected. Here the aim is to enable couples to make informed choices about whether or not to have children, and if so whether they might have a genetic disease studies 'proteins'. Starting with a simple analysis of the molecular make up, the Unit moves on to look at the importance of protein and how they are digested and absorbed. This study unit is just one of many that can be found on LearningSpace, part of OpenLearn, a collection of open educational resources from The Open University. Published in ePub 2.0.1 format, some feature such as audio, video and linked PDF are not supported by all ePub readers.

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Genetic Counselling (video) - Cystic Fibrosis 27th April 09

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Play Episode Listen Later Apr 27, 2009 6:14

James and James(!) discuss the genetic condition of Cystic Fibrosis in this science video podcast which simulates a genetic counselling session.

Genetic Counselling (video) - Marfan's Syndrome 12th April 09

Play Episode Listen Later Apr 11, 2009 5:36

Scout, Simon, Rhyder (and Dylan) discuss the genetic condition of Marfan's Syndrome in this science video podcast which simulates a genetic counselling session.

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Genetic Counselling (video) - Albinism 4th April 09

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Play Episode Listen Later Apr 5, 2009 4:36

Cameron (and Oliver and James?) have made a stop motion animation using Lego, simulating a genetic counselling session between an African American couple and a counsellor discussing the likelihood of their child having albinism.

Genetic Counselling (video) - Turner's Syndrome 24th March 09

Play Episode Listen Later Mar 26, 2009 7:43

This a video podcast of Eloise, Louise and Thien Kim as they discuss the genetic disorder Turner's Syndrome. The video shows them in a simulated genetic counselling session as a couple discuss the implications of their daughter's condition. (An audio version of this session, Genetic Counselling (audio) - Turner's Syndrome 24th March 09, is also available on this site.)

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Genetic Counselling (audio) - Turner's Syndrome 24th March 09