Friday, 12 February 2016

AGBT16 day 3 plenary part 2 - Anne Wojcicki

Anne Wojcicki
Anne Wojcicki, 23andMe “Making discoveries on the 23andMe platform”. Anne is going to focus on the benefit to the consumer of the Human genome. How will we decipher it, how will we cope with massive studies i.e. tens of millions of active participants.

The 23andMe research platform: 1.2 million opt-in customers using an IRB-approved broad consent with opt-out at any point, or for each survey, and all data is aggregated and anonymised. 23andME want to grow to the 10s, 100s of millions of individuals because 80% of customers are consenting to research.

Everything is easily accessed online without geographical barriers and with very rapid participant response. 23andMe have looked carefully at the quality of self-reported data and see high agreement to medical records. The data is high quality and Anne pointed to her favourite paper: Efficient Replication of over 180 Genetic Associations with Self-Reported Medical Data. The research platform allows recontact of participants to refine questions during research programs.

Big data: 75% of customers take at least one survey and 23andMe have over 320 million phenotypic data points. These are huge communities e.g. 240,000 APOE e4 carriers (me - see image below), 75,000 cancer patients, 34,000 psoriatics (me), 157,000 with depression, 188,000 cardiovascular disease patients. An engaged community with almost 40% of customers still logging in after 6 years. And once logged in customers contribute on average 86 answers. Customers are engaged and this engagement enables discovery. Recent successes in, motion sickness Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes, and glucose homeostasis; rare genotypes e.g. GBA and LRRK2 both rare but 17 double-carriers in 23andMe now have Coriell stem cells from 8 customers who said yes to a biopsy 8 hours after an email!

My 23andMe results

23andMe therapeutics: can they take a new approach to drug development? The main tools are GWAS + PheWAS and Anne presented an example for target identification in Asthma. 71,000 customers contacted and 6,000 participated to take a six month symptom study. The study costs were negligible compared to normal research trials - "this is going to be transformative in how we can make discoveries". But she made the case that we need to change how we look at research participants, we need to return results to engage them in the science.

Anne did not mention the selection bias of participants and the demographics of 23andMe customers (85% are from the USA). Sharon Plon brought this up in the Q&A, and also the fact that many potential participants are not necessarily online.

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