Death, taxes and January prediction columns: these things are inevitable. So what? A new year offers a convenient—if arbitrary—time to review the year that was and contemplate what lies ahead. Without further ado, here are five of the questions the Genomics Law Report is asking as we kick off 2010.
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.