Customers of Direct to Consumer (DTC) genetic testing companies are generally satisfied with their experience. At least that's the headline finding of a new study conducted by David Kaufman and colleagues from the Genetics and Public Policy Center at Johns Hopkins University, and headline is the mot juste. The study was launched last week at the annual meeting of the American Society of Human Genetics (ASHG). There's a webcast here, and a press release, which led to stories in Science Daily, the New Scientist, Reuters and elsewhere, even unto China.
This would seem to be good news for the industry, were it not for some of the fine print. The press release notes that the early adopters surveyed "tended to be highly educated and have higher incomes" but only 30% had shared the results with a doctor, 38% thought the reports they received were "too vague" and indeed Kaufman says that "one in 12 was not able to correctly interpret the sample results that we showed them." Basically, the subjects were curious (94%) but only a bare majority (58%) "said they learned new information that would help improve their health."
That correlates with another study released at the ASHG meeting, to perhaps rather less fanfare. That one, by Charis Eng of the Cleveland Clinic, and colleagues was titled: Comparison of Family Health History to Personal Genomic Screening: Which Method is More Effective for Risk Assessment of Breast, Colon, and Prostate Cancer? Said Dr Eng:
Our research findings indicate that family health history assessment is currently a better predictor of cancer risk when compared with personal genomic testing methods.
The genomic testing was by Navigenics. The full paper is not yet online, though an abstract is. It was presented, with three other papers on family history, at this webcast. Eng, who stresses the need for genetic counseling, notes that the gene tests may eventually be useful, but
evaluation of family health history still remains to be the gold standard in personal disease risk assessment. ... A personal family health history report can be completed at little to no cost, and this type of information is typically readily accessible and easily gathered by the patient.
"Little to no cost" may be appealing to patients, but it's a frightening prospect for investors. And yet the most prominent DTC testing company, 23andMe, just announced that they have raised "more than $22 million" in Series C financing.
This is not just Google money. (Google's co-founder funded the start-up, and the company repaid him and invested again as part of the second round.) This time, along with previous investors New Enterprise Associates and Google Ventures, they've got the Johnson & Johnson Development Corp. Yes, the venture capital arm of the big health and pharmaceutical company. According to Anne Wojcicki, the CEO of 23andMe:
We believe this round of financing will help us achieve our goal of dramatically accelerating the pace of research and could ultimately make healthcare research and healthcare delivery more efficient.
We have been saying for a long time that researchers rather than consumers are at the core of the 23andMe business plan. This seems to support that analysis.
If you are a consumer of such services, you might want to follow this invitation from ABC News to share your experiences. If you are not, you'd probably be better off talking with your relatives. They may have some good health-related advice for you.
Previously on Biopolitical Times:
Posted in Biotech & Pharma, Pete Shanks's Blog Posts, Sequencing & Genomics
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