The cost of DNA sequencing is falling at an unprecedented rate, even surpassing Moore’s law. This ushers in an era of genetic characterization of humans with the ultimate aim of personalized medicine. Several companies already offer direct-to-customer personal genetics services at prices ranging from less than a hundred to several thousands of dollars depending on the extent of information retrieved. One of the first and most well-known companies to offer this is 23andMe, a Californian-based company founded in 2006 by Linda Avey, Paul Cusenza, and Anne Wojcicki.
For $99, 23andMe would send you a saliva collection kit, from which they would isolate your DNA and hybridize it to an Illumina HumanOmniExpress-24 format chip. The chip does not sequence your entire genome, but rather detects certain single nucleotide polymorphisms (SNPs) in the DNA sequences. These are DNA sequence variations linked to certain traits such as susceptibility to disease, or physical features which relate to your “ancestry”.
This proved to be a hit as hundreds of thousands of people curious to know more about their genetic make-up willingly spat into a tube and mailed it off. Often the results obtained were underwhelming, though some like Google co-founder Sergey Brin (husband of Anne Wojcicki) found out he had a LRRK2 mutation that made him more susceptible to Parkinson’s disease. 23andMe encountered some setbacks initially with the US FDA. Their kits were considered by the FDA as medical devices, having the ability to influence health care management of the subject. And without appropriate paperwork to show their tests were well-aligned with current standards, they did not have approval to sell these services. Only after years of back and forth communications have they finally gotten approval for genetic diagnosis of several beta thalassemia and related hemoglobinopathies, Bloom syndrome, congenital disorder of glycosylation type 1a (PMM2-CDG), and cystic fibrosis, among others.
23andMe (and other personal genetics service companies) however are now armed with an extremely large database of human genome information (over a million individuals) that they could potentially “sell” for research purposes. 23andMe are not just limiting themselves to people who have signed up for the test but have also given out 10, 000 saliva collection kits to African Americans to increase the diversity of their genetic “library”. Of course, consent is given by individuals to use the data for research. Identities of the individuals would also be carefully unlinked from the genetic data, though physical traits are likely to be very well-recorded. It bodes well for research as scientific studies require a large sample size to make definite conclusions. However who gets to say who this information is available to? 23andMe have already entered deals with Pfizer, Genetech and a few other companies to use the genetic information in an effort to understand diseases and develop treatments. These deals are labelled collaborations but are often driven by the exchange of dollars.
Anne Wojcicki, the CEO of the company is a biologist by training, completing her B.S in Biology at Yale. After a research stint at NIH however, she decided that instead of pursuing a PhD, she would work as a consultant at an investment fund focused on healthcare. This may have helped in her getting close to $115 million in funding from Casdin Capital, WuXi Healthcare Ventures and Xfund, as well as existing investors including Illumina (ILMN), New Enterprise Associates, MPM Capital, and Google Ventures. With this she is planning on doing some science herself at 23andMe, recruiting Dr Richard Scheller (former executive VP of research and early development at Genentech), as its CSO and head of therapeutics.
They still have a long way to go in terms of setting up their own research unit but at least they are making their own effort as opposed to a sequence and sell approach. Should sequence information be available in the public domain? Fears of relinking personal data to genetic information that could lead to discrimination exist but often the fastest advances are made when everything is open-sourced. Obviously, safe-guards should be put in place to prevent the data from being utlized for evil. But this is likely just the start of an age where we develop greater understanding of our own genetic data with the further ability to re-engineer our genomes. For good or bad? Only time will tell.