1. Will the $1,000 genome live up to the hype? Affordable whole-genome sequencing is coming, possibly as early as this year depending on whom you ask. But when the day inevitably arrives, after the media frenzy has subsided, will the $1,000 genome prove anti-climactic?

Whole-genome sequencing is a means to an end and not an end in itself. The understandable excitement surrounding Complete Genomics’ November announcement that it had sequenced three genomes for an average cost of $4,400 often neglected to focus on what the price tag did not cover: the substantial costs associated with interpreting the genomic data.

For genomics researchers, the falling cost of whole-genome sequencing is a continuing cause for celebration, enabling increasingly ambitious research projects. But the success of personal genomics, which is what really matters to consumers, patients and healthcare providers, requires more than inexpensive genomic data. The real breakthrough in personal genomics will come when we can offer individuals affordable access to their whole-genome sequence as well as to the genomic tools and knowledgebase necessary for those individuals to put that data to use.

2. Will personal genomics stay DTC? The marketplace for personalized medicine continues to expand—a recent report from PricewaterhouseCoopers (pdf) estimated “the size of the global market for genetic testing at $730 million, with a 20% annual growth rate”—but the commercial landscape remains a fragmented work in progress, with some well-publicized struggles in the DTC space.

Will companies that offer direct-to-consumer (DTC) genomic services prove commercially viable by encouraging consumers to treat healthcare, including genomics, as an increasingly participatory activity? Or will personal genomics—whether due to financial or regulatory forces—become more closely integrated into existing healthcare structures, with traditional medical gatekeepers (i.e., doctors and insurers) serving as intermediaries between most individuals and their genomic information?

3. How will the ongoing gene patent debate affect the progress of personalized medicine? The patentability of genes has been a disputed topic for years, and 2009 saw the debate reach new heights with a highly publicized lawsuit against Myriad Genetics spearheaded by the ACLU that will continue to continue to wend its way through the courts throughout the year. With multiple appeals expected there is little reason to believe that 2010 will be the year that the gene patent question will be finally resolved.

Still, 2010 seems likely to be an important year for defining the relationship between patents and personalized medicine technologies. The Supreme Court heard oral arguments in In re Bilski late in 2009, and its decision in that case—as well as developments in other cases, including Prometheus Laboratories, Inc. v. Mayo Collaborative—could significantly impact the patentability of diagnostic methods or processes, which are viewed by many companies and investors as a core component of the personalized medicine marketplace.

Serving as a backdrop to this ongoing patent litigation is the possibility of policy or legislative reform. Last fall a government task force on Gene Patents and Licensing recommended substantial statutory and policy changes in the biotechnology patent regime, including exempting certain treatment and research activities from patent infringement liability. More recently, Congress appears to be closing in on a health care reform bill that would provide a regulatory approval pathway for biosimilars in exchange for a period of market exclusivity (up to 12.5 years in the current House and Senate proposals) that is similar to patent protection.

The availability and enforceability of patent protection is a critical consideration for researchers, entrepreneurs, investors and, ultimately, consumers and patients in the personalized medicine space. Though the gene patent debate may grab the most headlines, it is only one piece of a much larger, ongoing conversation that will merit close attention throughout 2010.

4. When and where will the next regulatory shoe fall? 2009 saw the Genetic Information Nondiscrimination Act (GINA) take effect, and 2010 should see Congress finally set out an approval pathway for biosimilars. What other areas are likely to see increased regulatory activity in 2010?

For the third consecutive year, one possibility is an expanded regulatory framework for laboratory developed tests (LDTs), including the subset of algorithm-based tests known as In Vitro Diagnostic Multivariate Index Assays (IVDMIAs) which form the basis of many products and services offered currently offered by genomics and personalized medicine companies. The FDA published draft guidance (pdf) for the regulation of IVDMIAs in July of 2007 but has yet to finalize its thinking. Will 2010 be the year that the FDA, in coordination with CMS, finally tackles the approval and regulation of diagnostic tests through the development of a premarket approval process, a nationwide test registry or some other means?

Another candidate for additional regulation is reproductive genetic technologies, including genetic screening. The utilization of genetic technologies in reproduction remains largely unregulated in the United States, but as costs fall and genetic technologies increasingly enter the mainstream, the policy debate over the appropriateness of these technologies is set to intensify. Increased regulatory oversight—likely beginning at the state level—is a possibility. Other potential regulatory possibilities include the direct regulation of medical genetic testing by DTC companies, a Congressional revival of the Genomics and Personalized Medicine Act (GPMA), biotechnology patent reform, and new financial regulations that could impact incentives to pursue long-term investments in genomics and personalized medicine technologies.

Regulatory developments outside the US will also be significant in 2010 as they were in 2009. Countries around the world are wrestling with a variety of new and difficult issues, and the international diversity of approaches certainly enriches the analysis.

While we wait and see where and when the next regulatory shoe will fall, 2010 will also provide us with an opportunity to watch as Congress and a host of Federal agencies set to the task of implementing recently enacted legislation, including GINA, which was passed in 2008 but continues to await final regulatory guidance and will remain a work in progress as employers, insurers and individuals all try to adjust to the new law.

5. Who will control the data? If 2010 does prove to be the year in which personalized genomic data becomes ubiquitous, who will ultimately assume control of that data?

The answer to that question depends in large part on which party is financing the data generation. Is it a consumer purchasing her whole-genome sequencing from a DTC company? A researcher—whether academic or commercial—enrolling tens or hundreds of thousands of participants into a genomic study? A healthcare provider encouraging preemptive genetic screening?

As genomic sequencing continues to develop into a mainstream activity, 2010 will showcase a variety of pathways through which individuals may receive complete or partial genomic sequences, and ownership and control of that information is unlikely to be uniform, or easily understood. We’ve already examined how genomic information is handled when a DTC company goes bankrupt and under existing Federal privacy regulations, and whether research participants should be granted access to their genomic data.

Today, GINA restricts by law the ability of employers and insurers to access personalized genomic information. But as the amount of available genomic data grows, so too will the possibilities for using (and misusing) that data, and these will not be restricted to employers and insurers.

There is a continuing need for private and public entities to collaborate with individuals in order to clarify how genomic information is owned, stored and accessed across a wide range of possible use cases and to provide individuals and third parties with improved options for data-sharing and data-protection. This dialogue has begun in places, as evidenced by the NIH’s decision last fall to revisit its genomic data-sharing policy, but it remains fragmented. Will 2010 be the year that a leader—or necessity—emerges to broaden and advance the discussion?

Those are some of the top questions on our list as we kick off the new year, and the Genomics Law Report will be closely monitoring how the answers to these questions unfold in the coming months. We invite you to contribute your own questions (and answers, if you’re so inclined) for personal genomics in 2010 in the comments below.

MacArthur correctly notes that the value of the genome scans provided by companies such as 23andMe and deCODEme lies not in the actual creation of raw genetic data but in the interpretation of that data, and wonders why deCODEme has decided to give that away for free. Here’s MacArthur’s take:

So, why the free offer? I’m guessing deCODEme is gambling (quite reasonably) that offering free uploads will attract a non-trivial number of 23andMe customers over to deCODEme’s interface. That then provides the Icelanders with an opportunity to give people a fair trial of their own interface, and hopefully to impress them with the quality and accessibility of the data provided.

That seems reasonable, and many 23andMe customers are likely already familiar with porting their raw genetic data to other interpretive tools – Promethease, for example – so perhaps this puts deCODE in front of a group of individuals who would not otherwise be in the market for a duplicative genome scan. (23andMe appears unconcerned by the prospect of a side-by-side comparison of its service with that of deCODEme.)

What’s more, MacArthur argues – like so many others, including the GLR – that generating and interpreting genotype data is “really just a transient place-holder for the real deal: interpretation of complete genome sequences.” That’s certainly true – why order up a million or two SNPs when you can have your entire genome sequenced for a comparable price? But despite some predictions that low-cost whole-genome sequencing will arrive as early as 2010, it’s not here today, and deCODE is unlikely to offer it at mass consumption prices in the immediate future. So how, exactly, does this move provide a near-term boost to a business whose parent entity, deCODE genetics, Inc., recently declared bankruptcy?

One possibility is that deCODEme, in addition to targeting 23andMe’s customers directly, is taking another page out the 23andMe playbook. I’ve written previously (here and here) about 23andMe’s creative attempts to pursue a DTC genomic research model. Simply put, as the cost of genomic sequencing continues to fall, the next generation of human genomics research will continue to strive to elucidate the genetic and environmental causes of complex traits such as heart disease and cancer. Doing so will require increasingly large and integrated datasets that combine detailed genomic information with individual trait, medical and environmental data. 23andMe, along with other companies such as PatientsLikeMe, has been at the forefront of efforts to tap into the DTC genomics customer population in an attempt to populate those datasets.

Whether developing DTC genomic research databases will prove to be a commercial success remains to be seen, but one of the initial problems that 23andMe has run into has been its inability to attract enough DTC genomic research participants to produce a full-scale Research Revolution. While there is no overt indication that deCODEme is itself moving in the direction of DTC genomic research – its announcement to existing 23andMe customers contains no hints about its motivation for providing the service – the option is on the table. The company’s Service Agreement and Informed Consent notes that deCODE may contact users and “invite [them] to participate in research.” And if deCODE was looking to develop a DTC genomic research database, there’s no better price point from which to do so than “free.”

TruGenetics announced something similar over the summer, and promptly ran into fundraising difficulties. But not only is deCODEme an established service, it is actively dealing with financial woes of its own and, as MacArthur emphasizes, facing “massive pressure” to demonstrate “commercial success from [its] personal genomics offering; and that means finding some way of going head-to-head with the well-funded and Google-backed 23andMe.”

Until the company lets us in on its plans, there is no way to know whether deCODE’s announcement represents an attempt to showcase its service to more potential customers, an indication that it plans to enter the DTC genomic research fray, or something else entirely. But no matter what this means for deCODE in the short-term, I think this is an intriguing and forward-looking move by the company. As sequencing costs continue to fall, genomic data generation is becoming cheaper and easier. But the same is not necessarily true of genomic data interpretation, as companies struggle to keep up with an expanding genomics knowledgebase.

If interpretation proves to be one of the key differentiators between DTC genomics companies, as expected, deCODE (and other companies) should embrace opportunities to hone their interpretative platforms now, while the DTC commercial market remains relatively small. A recent report from PricewaterhouseCoopers (pdf) estimated “the size of the global market for genetic testing at $730 million, with a 20% annual growth rate” and predicted that DTC genetic testing would “grow rapidly in response to consumer demands and declining prices.” Its recent financial struggles suggest that if deCODE is to participate in that projected growth, and continue to remain a relevant player in the DTC genomics space, it has little choice but to innovate. And offering its service for free to customers of its main competitor is certainly an innovative approach.

As the calendar flips over to 2010 it will be interesting to see what other strategies 23andMe, deCODEme and other DTC players employ in their attempts to stand out in the increasingly competitive consumer genomics marketplace.