The Open Secret of DTC Medical Genetic Testing

Open SecretThis is the third of four related posts analyzing 23andMe’s decision to separate its health and ancestry DTC genetic testing services. For more please see 23andMe’s New Game Plan: What it Means for the Company and for DTC Genetic Testing, A Fundamental Right to Genetic Information (Now More Expensive Than Before) and DTC Genomic Research: Revolution or Minor Uprising?

For well over a year, the DTC genetic testing industry in general, and 23andMe in particular, has been undergoing a shift in the way it characterizes and promotes its offerings. Where they once focused on the educational and recreational features of their services, DTC companies have rolled out an increasing array of tests and reports that appear unambiguously aimed at influencing their customers’ clinical or medical decision-making.

For example:

With the launch of the 23andMe Health Edition we are releasing 13 new carrier status reports. These reports will help you know more about what may be in store for the next generation. We are expanding our cystic fibrosis panel report to cover the full panel of mutations recommended by the American College of Medical Genetics, as well as several additional mutations. We will also be providing data for most of the mutations routinely screened for in the Ashkenazi Jewish population, including those associated with Tay-Sachs disease, Canavan disease and Bloom’s syndrome.

This isn’t 23andMe’s first foray into carrier screening (although the expanded screening brings 23andMe more in line with the DTC carrier screening service offered by Counsyl), and the company’s critics, including Steve Murphy, have already argued that the services 23andMe provides are medical in nature, and should be regulated as such.

Recreational or Medicinal? At least publicly, however, 23andMe continues to maintain that its services are “for research and educational use only.” The company’s Terms of Service prohibit the use of 23andMe’s services for “health ascertainment or disease purposes.”

From the Terms of Service:

3. Description of What the Services Are and Are Not: 23andMe Service Is For Research and Educational Use Only. We Do Not Provide Medical Advice, And The Services Cannot Be Used For Health Ascertainment or Disease Purposes

The genetic information provided by 23andMe is for research and educational use only. . . . The Services Content is not to be, and is not intended to be, used for any diagnostic purpose and is not a substitute for professional medical advice. . . . [O]ur testing service is not licensed by the relevant state and federal authorities for genetic testing conducted for health and disease-related purposes. Reliance on any information provided by 23andMe, 23andMe employees, others appearing on our website at the invitation of 23andMe, or other visitors to our website is solely at your own risk.

23andMe is not alone. The Terms of Service for other DTC service providers such as Navigenics and Pathway Genomics contain remarkably similar legal disclaimers.

Despite the disclaimers, and despite the fact that these companies are in most respects neither licensed nor regulated in the same way as traditional clinical or medical genetic testing companies, it is becoming increasingly difficult to distinguish the services offered by 23andMe and their DTC competitors from those offered by traditional medical genetic testing facilities.

Key Questions for DTC Genetics. In looking at the DTC genetics space a few key questions continue to crop up:

  1. Are these companies conducting medical genetic testing?
  2. If so, should they be regulated differently than at present?
  3. More importantly, will they be regulated differently and, if so, by whom?

Based on most common understandings of “medical genetic testing,” it is becoming increasingly difficult to give anything other than an affirmative answer to the first question. For example, as of today’s writing, 23andMe provides “Clinical Reports” for 33 conditions and conducts the relevant genotyping in a CLIA-certified laboratory environment, a requirement for traditional clinical genetic testing laboratories.

But covered as they are by a patchwork quilt of inconsistent and overlapping legislation and regulation, whether and how any of these DTC genetic companies might be arguably in violation of the letter of the law is a case-by-case – as well as, more often than not, a state-by-state – determination.

It is this uncertainty that makes the final two questions – whether these companies should be regulated and, if so, who will take on that responsibility – so important.

As for the should, it’s still not clear that, even if they are offering medical genetic testing, companies such as 23andMe are posing a risk to either consumer or patient safety that requires increased regulatory activity. Policy considerations such as the legitimate interest of individuals in obtaining direct access to their genetic information and a desire to foster the growth of an emerging commercial field to speed the development of technology as well as consumer awareness of the benefits of genetic testing are balanced against sincere concerns by clinicians that their patients may be misled or harmed by inaccurate or incomplete genetic information. The scale does not appear to have tipped definitively in either direction.

While other countries, most notably Germany, have taken definitive action to address various elements of DTC genetic testing, regulatory and legislative activity in the United States has been minimal. More than 18 months after a lengthy and influential government advisory report on the topic (pdf), a handful of letters in New York and California continue to stand as the most significant domestic (and public) regulatory activity.

There has certainly been no shortage of proposals seeking to address various pieces of this puzzle. These include the development of a mandatory genetic testing registry (also here), recommendations for industry self-regulation (pdf) or the appointment of a neutral, international organization to ensure standardized data and risk calculations, demands from clinicians to greatly expand regulation of the entire field, and even legislative action that would have the practical effect of banning direct-to-consumer genetic testing entirely.

Yet still we wait.

Hedging its Bets. Even in a climate of both regulatory and commercial uncertainty, companies such as 23andMe have no choice but to continue to move ahead, balancing commercial and legal risk to the best of their abilities. In July, when Pathway Genomics announced its own bifurcated product offerings, I wrote the following:

Pathway’s launch reflects a new wrinkle in how the industry may attempt to respond to the anticipated regulation of clinical genetic testing. Differentiating its recreational and clinical products from the outset could be just the sort of subtle but significant decision that would allow Pathway to quickly adapt to any regulations that distinguish educational or recreational uses of genetic data (such as genealogy) from clinical or medical uses (such as disease, pharmacogenetics or carrier testing).

Whether or not it proves possible to maintain a recreational/clinical distinction from either a scientific or a regulatory point of view remains to be seen, but Pathway appears to be doing what it can to provide itself with the flexibility it will need to navigate a complicated and rapidly evolving DTC genomics landscape in the coming months and years.

In the four months since Pathway’s announcement, there have been no significant changes in the regulation of the DTC genetic testing space. In that regard, at least, the decision to offer separate DTC genetic testing services makes every bit as much sense for 23andMe today as it did for Pathway in July.

Additional regulatory activity in this space is unlikely to be swift or dramatic, but by adopting a more flexible model for its product offerings 23andMe is better prepared today than it was last week to weather those changes, whatever they may be.

Just Who Do You Think You Are? Finally, buried in the comments to Daniel MacArthur’s coverage of the 23andMe announcement is a link to what purports to be an anonymous employee review of 23andMe from the website glassdoor.com. There are good and obvious reasons not to put too much stock in anonymous reviews, despite GlassDoor’s attempts to ensure legitimacy.

Nevertheless, it’s a detailed review that raises some tough questions, particularly in the final paragraph:

My advice is to build a company that focuses on doing one thing very well. If that thing is a web portal for genetics content, then set aside the research goal. If that thing is research, then set aside the web portal. If it is a genome-wide diagnostics company, then do whatever it takes to succeed in the increasingly difficult diagnostics world. . . .

Is 23andMe trying to do too much? That’s a legitimate question to ask of a company that has brought tremendous innovation and excitement to the field of DTC genetic testing but, at least so far, no obvious commercial success.

It’s possible to imagine that 23andMe will succeed in pursuing all of its various objectives – including providing genetic genealogy services, genetic testing for health, disease and other traits, improved genetics education and a novel genetic research platform – but it’s also certainly reasonable to ask whether 23andMe is trying to do too much.

Separating its genetic testing offerings onto separate product platforms, in addition to providing regulatory flexibility, also helps provide 23andMe and its investors with improved commercial flexibility. Segregating its products paves the way for 23andMe to develop more specific brand recognition and even to spin off or scale back portions of the company if that turns out to be a useful option down the road.

Filed under: Direct-to-Consumer Services, Genetic Testing/Screening, Genomic Policymaking, Industry News, Legal & Regulatory, Pending Regulation, Uncategorized
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