youtube.com/watch?v=qwgEgFHM… @KianSadeghi5 from @nucleusgenomics and I sat down to discuss where human genetics has come from and where it is going with a few healthy detours on the way.

I sat down with Dr. Jerry Lanchbury - former Myriad CSO, genetic‑testing pioneer, and member of the Nucleus Scientific Advisory Board - to discuss the next frontiers in genetics: genetic optimization, polygenic risk, and the patient‑led shift that’s reshaping reproductive care. We get into the history of genetic risk prediction, breakthroughs in embryo testing, explore how patients are reshaping the choice debate, and explain why this moment in genomics feels different than ever before. 0:00:00 - Dr. Lanchbury’s childhood and how he discovered genetics 0:06:46  - Early sequencing, the BRCA hunt, and Gemini Genomics 0:15:48  - Moving to the U.S. and scaling Myriad Genetics 0:30:13 -  Gene‑patent fight, rise of multi‑gene panels, and pushback from academia 0:40:23 -  Polygenic risk scores and why pre‑conception testing still overlooks many risks 0:55:06 -  Embryo testing and Nucleus Embryo 1:04:16 -  WGS for every newborn and related privacy concerns 1:09:50 - Nucleus’s product speed and increasing accessibility

The more exposure I get to ChatGPT, Claude and Perplexity, the more I see them as convenient start points spitting out beige, generic summaries rather than endpoints. Definitely endpoints for the lazy and overworked but more of an unsatisfying snack for the curious.

If I offered my GP my interpreted full genome sequence, high risk cardiovascular, structural, cancer, metabolic and neurological gene risk panels together with PRS scores for 20 important complex multifactorial diseases would they be able to put that in my primary care record?

spectator.co.uk/article/does… When did the British start using the word preventive? What was wrong with preventative?

MRC Senior Fellowship have supported many influential scientists, including: 1. Dame Kay Davies 2. Sir Peter Ratcliffe 3. Professor Fiona Watt 4. Professor Sir Adrian Bird 5. Professor Patrick Chinnery Is the funding spigot really that dry?

Happy to share our preprint "Analysis of more than 400,000 women provides case-control evidence for #BRCA1 and #BRCA2 variant classification" #VUS #BreastCancer medrxiv.org/content/10.1101/… 1/5

Someone should describe how PCR was conducted in 1985 @ProfJohnATodd

GRAIL in the NHS. politically driven and unlikely to benefit patients. bmj.com/content/386/bmj.q170… thanks to @SullivanProf @clare__turnbull @paulpharoah and the many anon people who spoke to us. @David_Cameron @nadhimzahawi

“If you read a novel in more than two weeks, you don’t read the novel” — Philip Roth.

I really fucking hate this trend in tech/fin circles that disparage the massive effort it takes to earn a PhD. It's a decree of YEARS of training, to the point where one literally writes a book on their expertise. These bozos think knowledge generation is trivial and trivia...

Clearly a matter of national importance - could you ever imagine Liverpool playing in.....pink (like Everton)?

Excellent summary of our failed model of academic publishing. It is basically maintained by the desire of individuals to publish in 'top' journals. theguardian.com/commentisfre…

thetimes.com/life-style/pare… Very sympathetic discussion of @OrchidInc embryo screening technology and the impact on prospective parents through an interview with the always impressive @noor_siddiqui_ in the @thetimesUK 👇

C'mom Slothgate - time to terrify the Swiss: Toney Kane Gordon Foden Palmer Rice Bellingham Konsa Stones Walker Pickford Rice shackles Xhaka with JB, Bowen to replace Kane when he tires #EnglandEuro2024