The Genetics Podcast

In this episode, we cover the latest genetics news stories including; 1) 23andMe’s plan to start collecting health data 2) New research that’s sounding alarm bells about the accuracy of genotyping tests 3) The largest-ever study of genetics and PTSD  4) A new $160 million round of funding for a SanFrancisco-based company working on the early detection of cancer 5) A breakthrough cure for another rare disease, amyloidosis, that’s just been approved in the UK

Dr. Alicia Martin, a researcher at the Massachusets General Hospital and the Broad Institute of MIT and Harvard, discusses the issues surrounding Eurocentricity in genetics studies.

Dr Patrick Short answers the top genetic questions on quora. Which include:  1) How reliable is the DNA testing offered by sites like Ancestry.com or 23andMe? 2) Does DNA testing for diet and fitness really work? 3) Does 23andMe provide accurate results for people of Indian heritage? 4) How much of the genome does 23andMe sequence? Can their data be used to study disease? 5) How seriously would you take the DNA ancestry and health reports from a place like 23andMe?

We recently held an event bringing together charities and patient registries to help them take the next step in doing genetic research. One of our speakers was Neil Bennett, the Director of Research at Action Duchenne and he discussed how they set up a patient registry as well as their approach to the challenges and opportunities in doing genetic research. Action Duchenne was formed in 2001 and was the first national charity dedicated to supporting those living with Duchenne Muscular Dystrophy.

We had the pleasure of speaking with Dr Eric Topol, author of ‘The Patient Will See You Now’ and ‘Deep Medicine’. Eric has had an incredible career which has been largely focused on researching cardiovascular disease and heart attacks, both of which he worked on in the Cleveland Clinic and Scripps Institute. In this episode, we discuss wireless medicine and the role of artificial intelligence and machine learning in medicine and healthcare.

Human Genetics Researcher Joe Pickrell is the CEO of Gencove who offer low-pass sequencing technology which is both cost-efficient and provides highly accurate variant calls across the whole genome. Having trained as a statistical geneticist, Joe discusses his early work with Jonathan Pritchard, developer of Structure and his work at the New York Genome Center to reduce the cost of whole-genome sequencing using computational methods such as imputation. This interesting discussion covers a range of topics from low-pass sequencing to eQTL to the ways in which modern humans are still evolving.

Sano Genetics CEO Dr Patrick Short interviews Dr Sonya Abraham, a researcher at Imperial College, London who looks at different conditions like arthritis and psoriasis to discuss biological therapies (or biologics) and how the gut microbiome affects these treatments.

Lasse Folkersen discusses how he started impute.me as a passion project, out of sheer curiosity to understand his own genes and to help others with the same intention and as a result, he has now sequenced his entire living family. We discuss impute.me’s stance on data privacy where users data is automatically deleted after 14 days as well as the smart way impute.me keeps costs down and keep the platform running solely from donations.

The Phlebotomist is a play written by Ella Road which imagines a future where your genetic rating influences every aspect of your life and is determined through a single blood test. We spoke with Ella to find out about her inspiration and the cross overs between modern day genetic testing and The Phlebotomist. The radio adaptation of The Phlebotomist is available now in the UK on BBC iPlayer.

We talk to Nick Sireau (co-founder of Findacure and chairman of the AKU society) about his two sons, who were both born with Alkaptonuria which is an ultra-rare genetic condition that causes the bone's surface to turn black and corrode. Nick has worked tirelessly to help establish a new clinical trial, exploring whether a chemical originally used as a weed killer could provide a treatment for this debilitating condition. So far the signs are very positive, but Nick is currently awaiting the final results which will be disclosed in September.