spinning out from Phenome Health in future years
spinning Hood suspects there will be a consumer-based “phenomics-and-me” style company spinning out from Phenome Health in future years when costs come down and more data is collected and analyzed. Right now, Phenome is working on a spin-out company based on the modular computer platform they’re building to analyze the data they’re planning to collect.
Some scientists ask why Phenome Health needs to recruit one million new people to study when dozens of biobanks and institutions around the world already have recruited and genetically sequenced millions of people. UK Biobank has now finished complete sequences of their entire cohort of 500,000 people. “There is a risk that setting up a new cohort will mean waiting another 10 to 15 years to get data that we already have tracked for over a decade,” says Collins. “It might make more sense to look at these cohorts that have already existed for a long time, and then think about which ones you might enhance with more depth in order to create your million or your two million.”
Hood counters that a new cohort can set out from the beginning to use the latest technology and build into it continual updates as they happen. Also, most risk profiles coming out of biobanks have tests for perhaps a few hundred thousand or a million SNPs— those single letter genetic markers—instead of nearly every one of the six billion nucleotides that come with sequencing a complete human genome, which is what Hood plans to do. “I think most of the SNP data is utterly trivial and it’s totally inadequate for what you can do now. No one is collecting as much data as we plan to,” he says.
However, the UK Biobank’s Collins confirmed that they have now finished complete sequences of their entire cohort of 500,000 people. (Data from the first 150,000 was released earlier this year in a study in Nature, which announced the discovery of almost a half-billion new genetic variants, far more than were known before.)
Diversity is another challenge for many biobanks. Most existing repositories include data from overwhelmingly white populations, which misses the rich diversity of human genetics. To remedy this shortfall, Phenome Health plans to work with its partner, Guardian, to tap into their large cohort of Black, Hispanic, and other marginalized people in the U.S. It’s also a social justice issue, given that different ethnicities have different genetic proclivities—variations that need to be better understood to improve prediction and treatment. “We need greater diversity to better understand the human gene pool,” Hood says.
Another hurdle to bringing scientific wellness to more people is a resistance to deploying phenomics in the clinic. “There’s a lag between the development of technologies and the ability to convince doctors and health-care systems that those technologies are valid and worthwhile, and sufficiently cost-effective or valuable to incorporate them into health care,” says Robert Green, a medical geneticist at Mass General Brigham Hospital, and a professor of medicine at Harvard Medical School, who studies how to bridge the gap between novel technologies and clinical practice. For instance, women are not routinely tested for BRCA1 and 2 genes to determine their breast cancer risk. These tests are available and well-established, but they have yet to be integrated into the daily workflow of most physicians. “How do you fit this into the 15 minutes that doctors have with their patients?” asks Green.