Podcasts

Demystifying Genetics with Dr. Mike Field

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/

In this ninth Demystifying Genetics podcast I discuss Fragile X and other conditions of learning disability with Dr. Mike Field, Consultant Clinical Geneticist. Mike has a lovely way of taking complex concepts and issues and explaining in a way that is easy and straightforward to understand. Mike has been involved with many research projects to do with the genetics of learning disability and we spent some time talking about this. We also covered Invitro Fertilisation (IVF) and preimplantation genetic diagnosis (PGD), which are techniques that an individual or couples may choose to achieve a pregnancy and by eliminating the risk of passing a certain condition on to the next generation. We end our podcast together by discussing bioinformatics and it’s relationship with clinical genetics and the future of genetics.

Factsheets

http://www.genetics.edu.au/publications-and-resources/facts-sheets/fact-sheet-54-fragile-x-syndrome

https://ghr.nlm.nih.gov/condition/fragile-x-syndrome

https://rarediseases.org/rare-diseases/fragile-x-syndrome/

Resources

http://www.geneticalliance.org.au/conditions_detail.php?Fragile-X-214

https://www.ncbi.nlm.nih.gov/books/NBK1384/#fragilex.Resources

Journal Article mentioned

https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.35752

Michael Field

Demystifying Genetics with John Conaghan

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/

Welcome to a podcast all about Huntington disease (HD). Joining me in this podcast is Senior Social Worker John Conaghan. I love all my guests and love all of my conversations about demystifying genetics, however, this podcast feels special. John is such a caring and empathic worker and his kindness shines through in this conversation.

We discuss what Huntington disease is and how it affects people with the condition and also the effect it has on their families. John has a long history of working with people and families affected by HD. John was working before the gene for HD was discovered. We talk about what it was like when genetic testing for the HD gene became available. Before direct genetic testing was available, a less sophisticated test called “linkage” was available and John discusses the issues with this type of testing and the hope that came with direct genetic testing. The new hope is that of genetic therapies that may come.

Huntington disease is a dominant genetic condition characterized by a triad of:

  • Cognitive impairment
  • Involuntary movements / the loss of the ability to mobilise
  • Personality change

The process of presymptomatic testing of unaffected people

HD is a progressive neurological condition with onset usually in midlife. We discuss the process of unaffected people go through when they would like to have tested to see if they have the gene change which will lead to them developing the condition. One of the worries that come with predictive testing is the fear that people who find out they are gene positive are that they may choose to suicide. If someone tests positive they may choose a different course of actions such as a different profession or course of study than if they tested negative. The way that presymptomatic testing is provided has relaxed or evolved over the years.

Issues that John and I discuss include:

  • Self-selection for those who present for HD testing and ego strength  
  • Grief within the family in relation to HD
  • The concept of the loss of the healthy parent and a caring role
  • Family dynamics
  • Survivor guilt
  • The role of genetic counselling in HD
  • Patient-focused genetic counselling & the genetic counselling alliance
  • Self-determination

HD factsheets

https://ghr.nlm.nih.gov/condition/huntington-disease

http://www.genetics.edu.au/publications-and-resources/facts-sheets/fact-sheet-55-huntington-disease

https://rarediseases.org/rare-diseases/huntingtons-disease/

HD support groups

http://www.geneticalliance.org.au/conditions_detail.php?Huntington-s-Disease-262

https://www.ncbi.nlm.nih.gov/books/NBK1305/#huntington.Resources

#MedicalPaternalism #HuntingtonDisease #HFE #genetics #GeneticCounseling #IGPodcasts #InsightGenomica #PredictiveTesting #health #SurvivorGuilt

John Conaghan

Demystifying Genetics with Martin Delatycki

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/

Prof Martin Delatycki joins me for this podcast. Martin is a clinical geneticist in Melbourne, Australia. He works clinically but also has a strong research interest.

We speak about the following genetic conditions:

  • Friedreich’s ataxia
  • Hereditary Haemochromatosis
  • Tay Sachs disease
  • Spinal Muscular Atrophy

More information about these conditions can be found at rarediseases.org  

We also talk about the genetic research and clinical trials that Martin is involved with including ones regarding resveratrol, rehabilitation and community screening.

The photo of Martin and I is from a Christmas party that we both attended a number of years ago. We had a group photo on the children’s play equipment.

Demystifying Genetics with Martin Delatycki

Martin Delatycki

Demystifying Genetics with Kristine Barlow – Stewart

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/

In this podcast, I was lucky enough to speak to Kristine Barlow – Stewart. Kris has been a genetic counselor in Australia for many years. The photo is of Kris and I a few years ago in Sydney enjoying a lovely glass of champagne.

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 counseling research, and the diagnostic odyssey. We also discuss the management of uncertainty in genetic counseling and the future of this profession.

Following is a link to research that Kris mentioned

https://www.nature.com/articles/s41436-018-0082-9

Here is a link to a study we spoke about with Dr. Janan Karatas and Preimplantation Genetic Diagnosis

https://academic.oup.com/humrep/article/25/6/1481/2915781

Kristine Barlow - Stewart

Kristine Barlow

Demystifying Genetics with Lucinda Freeman

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/

Lucinda is a fabulous genetic counselor 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 counseling patients about whole genome testing – USA, UK”. A copy of the report can be found here (https://www.churchilltrust.com.au/fellows/detail/4119/Lucinda+Freeman)

In this podcast we cover:

~ Family communication about genetics and results

~ Genomic testing and uncertainty and anxiety that may come with results of unknown significance

~ The diagnostic odyssey

~ The power of connecting over social media about a genetic diagnosis

~ Genetic counseling research

~ Preconception screening.

I mention a research project I was involved with. Here is a link to this paper https://link.springer.com/article/10.1007/s10897-014-9696-5

Link to the article about Genetic Counselling being rated number 1 job can be found here

https://www.prnewswire.com/news-releases/careercasts-2018-jobs-rated-report-sees-major-changes-over-three-decades-of-rating-jobs-300657123.html

 

Demystifying Genetics with Lucinda Freeman

Lucida Freeman

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/

Jane Tiller

Jane Tiller

Demystifying Genetics with Yasmin Bylstra

This podcast can be accessed via Apple Podcasts at
https://itunes.apple.com/au/podcast/demystifying-genetics/id1387090904
or on Buzzsprout at
http://demystifying-genetics.buzzsprout.com/

I had the pleasure of catching up with Genetic Counsellor Yasmin in this latest podcast. Below is a photo of us going out for dinner a few years ago.

One of the conditions we discussed is called hypercholesterolemia.

Pharmacogenomics is the science of how medications will work according to your genetic makeup.  Pharmacogenomic testing is done to predict how your body responds to certain medications. The product I recommend to my clients is from a company called OneOmeMore information can be found at my website at  https://www.insightgenomica.com.au/oneome-pharmacogenomics/.

Yasmin works a lot in the area of cardiac genetics. The Centre for Genetics Education have produced a number of fact sheets including ones for cardiomyopathies and hypercholesterolemia. They can be found at http://www.genetics.edu.au/publications-and-resources/facts-sheets.

Yasmin and I discussed the Asia Pacific Society of Human Genetics and the Professional Society of Genetic Counselors in Asia, which we are both members of:
http://www.apshg.info/
http://www.psgca.org/

Yasmin can be contact via LinkedIn https://www.linkedin.com/in/yasmin-bylstra-4942b99/


Demystifying Genetics with Ron Fleischer

This podcast can be accessed via Apple Podcasts at
https://itunes.apple.com/au/podcast/demystifying-genetics/id1387090904
or on Buzzsprout at
http://demystifying-genetics.buzzsprout.com/

It was a pleasure having Ron as my first guest on my podcast. Below is a photo of us together at a conference in Vietnam in 2015. Ron also has a private genetic counselling practice based in Sydney called The Genetic Clinic
www.thegeneticclinic.com.au

Ron and I discussed what genetic counselling is. The Centre for Genetics Education has a great factsheet on genetic counselling which can be downloaded here

Ron’s preferred area of practice is prenatal screening and we discussed one test in particular called Non Invasive Prenatal Testing or NIPT

Another area of discussion was expanded carrier screening. My preferred product and the one that I recommend to my clients is the Counsyl Foresight test

We ended our discussion talking about our professional bodies that Human Genetics Society of Australasia and the Australasian Society of Genetic Counsellors. More information about these organisations can be found on their websites:
https://www.hgsa.org.au/
https://www.asgc.org.au/


Demystifying Genetics – Matt Burgess

This is the first podcast in a series called Demystifying Genetics where I, Matt Burgess, Genetic Counsellor am interviewed by my partner Daniel Goodfellow. I’ve included a photo of us taken at a wedding we attended in 2016. Podcasts to follow will have me interviewing genetic counsellors and others working in or involved with genetics.

I mentioned how present day clinical genetics evolved from a reaction to the eugenics movement of World War II. In genetic counselling we hold the tenet of non-directiveness or not telling people what to do as very important. Our role is not to tell people what they should do, but to give our clients information so they can make an informed decision. A good comment on eugenics from an Australian clinical geneticist can be found here.

I published an article in the Journal of Genetic Counseling about my practice of genetic counselling. It can be found here.

I mention a study about ethical cases faced by workers in clinical genetics. The published article can be found here.