The Importance of Balance in Evaluating DTC Genomics
Earlier this week the New York Times published a generally alarmist and one-sided piece (“Buyer Beware of Home DNA Tests”) advising consumers to steer clear of direct-to-consumer (DTC) genetic testing and genomic services providers. The Times piece advises consumers to opt instead for a certified medical geneticist or genetic counselor even as it acknowledges, in the next paragraph, “a relative shortage of genetic counselors to clarify the significance of test results, and the fact that most practicing physicians lack the knowledge and training in genetics to interpret them properly.”
There’s no need for me to dissect and evaluate the arguments against DTC genomics made in the article. That task has been ably carried out by Daniel MacArthur, Blaine Bettinger and Jens McCabe. And it’s worth mentioning that the Times’ DTC genomics coverage has been relatively rich and varied (see, e.g., the now infamous “spit party” coverage, 23andMe co-founder Anne Wojicki’s Q&A on the Freakonomics blog or Steven Pinker’s excellent piece in the Times magazine, “My Genome, My Self”).
I do want to weigh in, however, on the potential consequence of the paternalistic medical establishment viewpoint that is advanced in the Times article, which paints DTC genomics as an industry lacking in analytic validity, clinical validity, clinical utility and (in what was a new concept for me) “ethical validity.” In failing to acknowledge any of the benefits provided by DTC genomics (which MacArthur, Bettinger and McCabe all highlight), the Times article invites readers (including legislators) to plausibly conclude that a legitimate solution might be simplyto restrict the business of genomic interpretation to traditional medical professionals. This is, in fact, exactly what Germany is proposing to do on a national level, but this type of genetic paternalism—largely a byproduct of a genetic exceptionalism perspective—is an extreme position, with most legislators taking a more measured approach, at least to date.
Leveraging the Crowd to Understand Your Genome
Earlier this week Peter Aldhous of NewScientist magazine recounted an unusual experience with DTC genomics provider Decode Genetics. In reviewing his genetic data on the deCODEme website, Aldhous uncovered what appeared to be significant and bizarre errors in his mitochondrial DNA. Aldhous turned to Blaine Bettinger, The Genetic Genealogist, for help in diagnosing the problem with his mitochondrial DNA. Bettinger’s response: “This is a strange question, but are you sure this is Homo sapiens?”
Aldous, Bettinger and Decode investigated the problem and ultimately determined that the “errors” in the mitochondrial DNA were actually being introduced by a bug in the deCODEme software interface that allows users to browse their data. (Aldhous carefully points out that the software glitch was a rare one and that it did not seem to affect deCODEme’s disease-risk summaries or analysis.)
More than a simple software error, Aldhous’s experience highlights the complexity inherent in consumer genomes. Translating an individual’s saliva sample into a description of genetically influenced traits and risks is a multi-stage process with potential for error at every step in the chain. Or, as Daniel MacArthur of Genetic Future cleverly puts it, “There’s many a slip ‘twixt spit and SNP.”
Pathway Genomics Launches and a Look Back at Two Years of DTC Genomics
Pathway Genomics became the latest entrant in the consumer genomics space when it publicly launched its new direct-to-consumer (DTC) genotyping service this morning. Pathway provides genotyping (or SNP testing) for a variety of genetic traits and markers including ancestral testing for $199, health and disease testing for $249 and both the health and ancestry service for $349, which is a $50 price drop over the current market leader, 23andMe. Blaine Bettinger (of the Genetic Genealogist and a consultant for Pathway) previewed the service back in March and today’s Bio-IT World also has a detailed summary.
What’s new about Pathway Genomics? From a narrow perspective, perhaps not much. On its surface, the Pathway offering is comparable to products already on the market from 23andMe, deCODEme and Navigenics. Although it’s too early to evaluate Pathway’s promises of “better science, deeper results, and a better price,” the genotyping service appears competitive with existing industry offerings, with the ancestry testing component positioned to be an industry leader. However, unlike the last major DTC genomics announcement, there does not appear to be anything fundamentally new about Pathway’s technology or market-shattering about its price point.
Even though Pathway does not appear to offer a breakthrough technology or business model, its launch is still a significant event. It represents yet another bet by investors on the commercial potential of consumer genomics and ratchets up the competition for DTC market share. Moreover, Pathway’s service is indicative of how the consumer genomics industry continues to shift.
