For those who missed the GET Conference, several high quality recaps are available. The most detailed is A Day Among Genomes, by Carl Zimmer of Discover’s blog The Loom. More targeted reflections on the conference and related events come from Emily Singer of Technology Review summarzing key trends highlighted by the genome pioneers (Singer also has a related piece on the difficulties of understanding human genomes), David Dobbs of Neuron Culture on genomes, cool conferences, and what the hell to tell people about behavioral genes, and Turna Ray of Pharmacogenomics Reporter on the recent Myriad Genetics decision, and its impact on the business of patenting genes. If you’d like even more detail, the Twitter community provided real-time play-by-play.

While there’s no need for a further summary, the GET Conference does provide an occasion to look at the evolving personal genomics landscape in a more holistic fashion.

Genomes GET Personal. Personal genomics refers to the generation and delivery of an individual’s genomic or genetic information. The data itself ranges from testing a single base (referred to as a single nucleotide polymorphism, or SNP) to attempting to sequence each of the approximately six billion bases that make up a human genome. Data generation occurs on a variety of platforms, but it takes more than data to make genomics personal. We must move beyond merely inexpensive genomics to truly personal genomics. That requires analysis of the data, linking it to the life of the individual donor, and, ultimately, using the data in some fashion.

For those of us who frequently read and think about such topics, it’s easy to develop a slightly myopic view of the significance of personal genomics. For example, as Carl Zimmer noted in his review of the GET Conference, it was a challenge to evaluate personal genomics critically “in front of an audience made up of genome scientists, people from the biotech sector, venture capital folks, and other assorted people who are, shall we say, already in the genomic tank.”

The reality is that, to date, personal genomics has been the province of a comparative few. Academic researchers, a fraction of healthcare patients supported by too few providers conversant in clinical genetics, and a handful of companies, entrepreneurs and early adopters striving to deliver genetic information to consumers outside of the clinical setting. But the rest of the world – including a majority of consumers, patients, healthcare providers and payors – is waiting in the wings.

With the cost of generating genomic data dropping, and their possible uses expanding, personal genomics is poised to enter the mainstream. When that happens, certainly by the end of this decade, and possibly far sooner, what will the personal genomics landscape look like? To put it another way, what are the channels or pathways through which ordinary individuals – those of us who are not geneticists or early adopters – will explore their own genomes?

Personal Genomics Pathways. The first step in answering that question is to sketch the personal genomics landscape as it exists today – to understand the pathways through which individuals are currently entering personal genomics.

The following sections outline four different categories of personal genomics: clinical, consumer, research and unintended. Delineating these categoris is not an easy task, and there are frequent examples of companies or technologies that reside in more than one of these four categories. Nevertheless, as the field continues to evolve, mapping the “big picture” can facilitate more precise dialogue, regulatory actions and commercial predictions.

Research. Genomic research is distinguished from the categories described below by its intended use (to improve our understanding of the genetic bases for complex human diseases and traits). But it is important to note that not all genomic research is personal genomic research. This is due to the fact that, in most research settings, genomic information flows in only one direction: from the individual to the researcher. Even aggregate research findings, let alone individualized data, are rarely returned to volunteer participants. Thus, despite the explosion over the past five years of genome-wide association studies (GWAS) and, more recently, the construction of large-scale genomic databases (including the UK Biobank and the Kaiser Permanente Research Program on Genes, Environment, & Health), the vast majority of genomic research does not qualify as personal genomic research.

This is partly due to a timing delay. The proliferation of individual-level genomic research data is a relatively new phenomenon, and research norms have been slow to adapt to a growing body of evidence suggesting that people are interested in learning the results of research carried out using their DNA, and that it is ethical for researchers to return such results. It also reflects some legal uncertainty, specifically whether research conducted (in the United States) in non-CLIA environments can be returned directly to participants without violating federal law. Driven by increasingly vocal calls from both research participants and researchers themselves – including several commentators in the GLR’s What ELSI is New? series – the government agencies that supply the bulk of the funding for genomic research are continuing to examine the issue of genomic data-sharing in the research context.

For the moment, the number of individuals participating in personal genomic research is on the rise. At the GET Conference, George Church provided an update on the Personal Genome Project, which is using unique informed consent protocols to build a research cohort of 100,000 individuals who will have the opportunity to actively participate in personal genomic research, and who will have direct access to their individualized genomic sequence information. The first ten participants (the “PGP-10”) have already made their data available online.

There have also been attempts to develop DTC genomic research initiatives and, while the yields so far have been modest, the model is an intriguing one that promises to involve increasing numbers of individuals in the research aspect of personal genomics.

Clinical. One of the key drivers of the personalized medicine movement is clinical personal genomics. It is defined by its application of genomic data (to clinical care) and its mode of delivering that data to the individual (through a licensed healthcare provider). Extremely wide-ranging, clinical personal genomics has the potential to integrate individualized genetic or genomic information into nearly every aspect of patient care.

Clinical personal genomics includes genetic testing for autosomal dominant genetic traits (e.g., Huntington’s disease), diagnostic testing to predict the likelihood of the development or recurrence of a disease with a known genetic component (e.g., breast cancer) and carrier testing for prospective parents concerned about passing on genetic traits (e.g., cystic fibrosis) to their children. (Arguably, reproductive personal genomics – including carrier testing and other reproductive technologies, such as prenatal testing and pre-implantation genetic diagnosis (PGD) deserve their own category but, since such services are typically offered under the supervision of healthcare providers, they are considered clinical personal genomics in this post.) Clinical personal genomics also involves testing for genetic variants that influence whether and how certain therapeutics will behave in an individual patient, often referred to as pharmacogenetics.

Providers of clinical personal genomics include numerous laboratories offering either FDA-approved genetic testing “kits” or laboratory developed tests (LDTs) (which are not currently regulated by the FDA) targeted at specific genes (as well as at other biomarkers). In addition to the companies that supply the tests or kits, clinical personal genomics also requires genetic counselors, clinical geneticists and other healthcare providers capable of helping patients to understand and act on their genomic data.

A pair of recent announcements by CVS Caremark (acquiring a majority stake in Generation Health) and Medco (acquiring DNA Direct), the country’s two largest pharmacy benefit managers (PBMs), suggest that personal genomics is primed to play an increasingly prominent role in the delivery of medical care. However, there is broad-based concern that there are insufficient numbers of trained healthcare professionals, especially genetic counselors and primary care providers with an adequate understanding of genetics, to handle the expected increase in patients seeking, or needing, clinical personal genomics services.

Consumer. Also referred to as direct-to-consumer (DTC) genomics, the distinguishing features of consumer personal genomics are its intended use (informational, educational or recreational, but not clinical) and its mode of delivery (directly to the consumer, without the requirement of a licensed intermediary).

Consumer genomic services run the gamut from genealogy (Ancestry.com), to paternity (Paternity Experts) to genetic matchmaking (Scientific Match), and everything in between. While some consumer personal genomics services are both popular and uncontroversial (ancestry testing) or are clearly niche products (MyRedHairGene.com), others have straddled the line between consumer and clinical personal genomics, creating confusion for consumers, healthcare professionals and regulators alike.

As an example, 23andMe tests more than half a million SNPs and reports back information relevant to more than 130 traits and conditions, many of which appear unambiguously aimed at influencing their customers’ clinical or medical decision-making. 23andMe also offers a popular genetic genealogy service, and has repeatedly expressed an interest in using its customers as the basis for a personal genomics research platform. What results is a single company with multiple overlapping products that could easily be viewed as a hybrid of the clinical, consumer and research personal genomics types.

What keeps companies like 23andMe in the consumer personal genomics category, at least for the time being, is an insistence on direct-to-consumer access. With a few important exceptions (e.g., New York and Germany), individuals worldwide can purchase and use these services without the involvement of a healthcare provider.

With the list of DTC providers growing rapidly, it can be difficult to keep track of everything that is out there. At present, the only publicly accessible registries of DTC providers are maintained by private entities, including AccessDNA, DNA Test Index, and the Genetics & Public Policy Center (pdf) at Johns Hopkins University.

Recently, however, the NIH launched a new genetic testing registry (GTR) which has the potential to serve as a more comprehensive resource for tracking DTC genomics services. The GTR, which will include providers of both clinical and consumer personal genomics services, is not yet operational. Listing in the GTR is also voluntary so, even once it is in place, it is unlikely to serve as a comprehensive directory of all consumer personal genomics services. There are reports, however, that Representative Patrick Kennedy is attempting to revive the Genomics and Personalized Medicine Act in a form that would include a mandatory genetic testing registry.

Of all of the personal genomics categories listed here, consumer services is the one most likely to rapidly splinter into multiple categories. At the moment, there are few regulations that deal directly with DTC genomics companies and the services they provide. As the generation of genomic data becomes increasingly inexpensive and commonplace, the spectrum of consumer services will expand considerably. As was true of the development of personal genomic research norms, regulatory activity in this area has lagged commercial and scientific development. At some point, however, additional regulations will arrive, helping to further define this category. For instance, it is possible that the GTR will serve as a precursor to a more comprehensive system of regulation for genetic testing. Additional regulation, whatever its impetus, would likely produce further fragmentation within this category, with some companies sliding into defined regulatory boxes and others changing their offerings to avoid regulatory control (and expense).

Predicting precisely which consumer services will be offered and how, if at all, they will be regulated, is impossible. All we know is that personal genomics consumers ten years from now are certain to have many, many more options than they do today.

Unintended. This final category is a catch-all, characterized by a single shared feature: these individuals did not intentionally confront their personal genomic information. At the Genomics Law Report, we have discussed a variety of ways in which an individual might receive an unintended, and possibly unwanted, introduction to personal genomics. Paternity identification, surreptitious testing, genetic testing of a first-degree relative, forensic activity and the re-identification of previously de-identified genetic information all have the capacity to introduce unsuspecting individuals to their genetic information. It’s also possible that individuals who have agreed to share or to explore only certain aspects of their genetic information will be unexpectedly presented with personalized genetic information beyond the originally intended scope of their agreement. No doubt there are other means of unintended exposure as well.

While not every unintended exposure to personal genomic information will be undesirable, such occurrences should clearly be minimized. Although the GET Conference featured a self-selecting audience largely enamored of personal genomics, not every individual shares the desire to peer deeply, or at all, into his or her own genome. An introduction to personal genomics, no matter the context, should be expected, if not always desired (e.g., certain clinical testing), with ample opportunity afforded for pre-test education and, where necessary, informed consent.

Unfortunately, as the cost of generating individualized genomic data declines, more and more such data will be generated. The proliferation of personal genomic data, and the increasing array of valuable applications of such data, is likely to increase the incidence of unintended personal genomics exposures. A combination of public education and policy and legal reforms will be needed to minimize the number of such events and mitigate their impact when they invariably occur.

The Future of Personal Genomics. The categories described above are roughly drawn, and they may well be incomplete. There is no question that they are neither exclusive nor exhaustive. All we really know is this: to the extent that they accurately reflect the current personal genomics landscape, they will not do so for long.

Genomic researchers with novel questions will continue to require novel, and increasingly participatory, research models. Clinical practice will grow and is likely to become simultaneously more specialized (e.g., increasing availability of genetic diagnostic tests) and more generalized (e.g., incorporation of whole-genome sequences into medical records as a default). Consumer personal genomics will go wherever the entrepreneurial imagination can take it and regulatory bodies permit it, leading to splintering and further blurring between its boundaries with other categories.

The 2010 GET Conference closed with the personal genomics company Knome awarding a free exome sequence to the most original audience-supplied idea applying personal genomics. The winning proposal, submitted by Jonathan Eisen, would supplement understanding of our ancestors by sequencing current and ancestral microbiomes. A sampling of the submissions that didn’t win – including sequencing of millions of sperm from an individual to understand germ line variation, replacing newborn blood-spot testing with genomic sequencing, using real-time genetic testing to identify and prevent allergic reactions, constructing encryption keys from an individual’s genomic code and the development of new commercial models to expand access to and participation in personal genomics – provides a glimpse at the untapped applications for personal genomics.

Where will personal genomics head from here? I, for one, am already looking forward to the 2011 version of the GET Conference by which time, if recent history is any guide, this roadmap will already be out of date. And that, without question, is the most exciting thing about personal genomics as we close the book on the 2010 GET Conference.

For better or worse, that’s where the instructions ended. The invited contributors identified the ELSI of their choice and discussed (or not) their rationale for so selecting as they saw fit. In addition to refraining from substantive editing, we intentionally avoided coordinating commentaries. Although we encouraged independent submissions from a variety of contributors and deprived them of any advance knowledge of what others in the series would say, one of our hopes was that consensus would begin to form around certain key ethical, legal and social issues.

To some degree this occurred. In collecting the series for the convenience of readers who would like to have all of the contributions in one place (pdf), we have ultimately settled on six broad topic headings for the commentaries, which are preceded by Jason Bobe’s call to arms for a new generation of “genomic astronauts.” It’s Mine! focuses on the privacy, ownership and access questions that continue to swirl around genomic information. Personalized Medicine in the Real World is wide-ranging, with commentaries that examine existing societal, scientific and governmental barriers to the implementation of personalized medicine, and several that propose specific solutions designed to eliminate certain of those barriers. In Too Much Information, the commentaries return to data and consider how individuals, clinicians, researchers and, ultimately, society will assimilate the coming deluge of personal genomic information. Back to School features several commentaries that make the case that improved educational models are the key to realizing the potential of genomics and personalized medicine. The commentaries in No _______ Need Apply focus on one of the most oft-discussed risks associated with personal genomic information―genetic discrimination. Finally, our commentators take a look to the future in Testing the Limits?, examining issues of genetic testing, modification and exceptionalism.

Although we have presented the series using these broad headings, as we undertook the task of gathering the commentaries and attempted to identify cross-cutting themes and trends, we came to appreciate even more the value of the series. That is, the commentaries simply do not fit into neat boxes. That was probably to be expected, given the variety and thoughtfulness of our contributors and the breadth and uncertainty that continues to surround the fields of genomics and personalized medicine.

Despite our organizational efforts, each of our contributors could easily have his or her own topic heading. And more than anything else, the diversity of ideas and opinions expressed in What ELSI is New? is its most significant contribution. After all, our other hope for the series was that the broad range of contributors would hold up seemingly familiar issues in new lights and see new connections. They sure did.

Dan Vorhaus

Editor, Genomics Law Report

December 2009

This is the second of four related posts analyzing 23andMe’s decision to separate its health and ancestry DTC genetic testing services. For more please see

An Unexpected Increase in Price. In considering 23andMe’s new model from the consumer perspective, the most surprising development is that the announcement comes with a price increase. With the steady drumbeat of stories heralding the approach of the $1,000 genome, and the consumer expectation that prices for established technologies are meant to fall, not rise, the price hike was unexpected.

23andMe is touting a few new features, mainly its recently announced Relative Finder tool and 13 new carrier status reports, including an expanded cystic fibrosis panel, as justification for the price increase. But the price hike combined with recent layoffs at the company is also fueling speculation that 23andMe is struggling to define a commercially viable product.

What’s more, the increase in price may cause some potential 23andMe customers to take a second look at some of its competitors. In July, Pathway Genomics launched its own DTC service with a split service model nearly identical to 23andMe’s new approach: ancestral testing for $199, health and disease testing for $249 and both the health and ancestry service for $349. What was a $50 discount on 23andMe’s service in July is a $150 discount today (assuming Pathway doesn’t follow suit with a price increase of its own), which may be enough to tip the scales for certain consumers.

At least this time around, none of 23andMe’s existing customers will be wondering about a refund.

A Fundamental Right (That You Pay For). 23andMe’s current $399 offering provides customers the ability to view and to download their raw genetic information. Although 23andMe provides an impressive array of interpretive tools and reports to help understand the raw data, making the raw data available for download has permitted individuals to publish that data online for others to review and to compare and contrast it with data provided by other DTC genetic testing companies.

Starting this week, however, neither of 23andMe’s stand-alone offerings – the $399 Ancestry Edition or the $429 Health Edition – will offer complete raw data access (although the Ancestry Edition does offer Y and Mitochondrial raw data). That access will now be reserved for customers purchasing the $499 Complete Edition.

For a commercial service provider such as 23andMe, there’s nothing inherently wrong – or even unusual – in choosing to make certain features available only to customers willing to pay a premium. In the case of 23andMe, however, the decision is at least a mild surprise. As Daniel MacArthur points out:

. . . until now 23andMe has been steadfast in its insistence that personal genomics customers should see everything that their genome yields, not just fragments of it – the consistent subtext being that the whole raison d’etre of personal genomics should be the pursuit of broad intellectual curiosity and self-exploration rather than a desire to look purely for information relevant to health or some other specific interest. That ideal now appears to yielding to market forces.

The apparent shift in philosophy is all the more noteworthy given the back-and-forth exchange earlier this month between 23andMe and Kaiser Permanente in which 23andMe co-founder Anne Wojcicki criticized Kaiser for its decision not to return genetic information to its research participants. In criticizing Kaiser and arguing that “Research participants have a right to their own genetic data,” Wojckicki said this about her own company: “I co-founded 23andMe, a personal genetics company, to enable individuals to access their genetic information—what we believe to be a fundamental right.”

That “fundamental right” is one that 23andMe customers have always had to pay for but, at present, it is one that every new 23andMe customer receives. On Thursday, that will change, with the “fundamental right” being reserved for the highest-paying customers.

If 23andMe was a pure service provider it would be easy to distinguish its decision to require its customers to pay for access to their genetic information while criticizing the Kaiser study for failing to return very similar information to research participants. But 23andMe does more with its customers’ raw genetic information than simply interpreting and returning it to the individual customer. The company’s novel approach to genetic research has been well documented here at the GLR, and 23andMe’s current Terms of Service remind customers that “by your participation in the 23andMe service you contribute your genetic information to our research effort to study various aspects of human genetics in an attempt to better understand the human genome.”

23andMe has not said whether it will continue to use genetic information supplied by customers purchasing at the $399 or $429 levels in its ongoing research efforts, despite not making the raw genetic data available to those customers. If it does, it will be interesting to see whether and how 23andMe attempts to justify its decision to withhold from certain of its own research participants (who are also paying customers) the “fundamental right” to their genetic information, particularly so soon after critiquing Kaiser for a substantially similar practice.

Holding Out For More Money. Also unknown is how 23andMe will handle the return of medically useful genetic information to individuals who purchase only the company’s “Ancestry Edition” product.

In Wojcicki’s Kaiser commentary she noted that genetic data, such as the kind commonly returned by23andMe, “. . . might reveal that an individual is at higher risk for certain diseases such as age-related macular degeneration, blood clots, Parkinson’s disease or breast cancer,” along with carrier and pharmacogenetics status information. Beginning Thursday, that’s the type of information that will show up in both the Health Edition and the Complete Edition, but not in the Ancestry Edition.

In its announcement, 23andMe clarifies that customers aren’t bound by their initial purchase: “You can always buy one version, either the Health or Ancestry Edition, and upgrade to the Complete Edition at a later date. You won’t even need to spit again!” No additional spitting is necessary because, unless 23andMe is planning to take another page from the Pathway playbook and introduce separate health and ancestry chips, 23andMe’s current v2 chip contains both types of genetic information on a single customized chip, meaning the data crunching is all done at once. After that, 23andMe has access to the “Complete Edition” for each individual, even if it only chooses to release the “Health Edition” or “Ancestry Edition” data for particular customers.

23andMe is clearly hoping that, sooner or later, its customers will want to access all of their data, and that they’ll be willing to pay a bit extra to do so. But at least for some individuals who purchase the Ancestry Edition and choose not to upgrade, 23andMe is likely to be sitting on genetic information of identifiable medical utility. Which will place 23andMe in the uncomfortable (but commercially understandable) position of withholding medically useful information in an attempt to extract a higher fee.

To the best of my knowledge, this represents a new dynamic in the world of DTC genetic testing, and it extends to the realm of DTC genetic testing a number of questions that have long troubled physicians, researchers and courts, such as whether and when doctors, researchers and companies have a duty to return information, including genetic information, that is of medical importance to an individual. That’s a topic that the GLR will be investigating in more detail in the coming weeks.

This 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.