By Turna Ray
"Pharmacogenomics" may still not be a word that is commonly heard around most kitchen tables, but "personalized medicine" certainly became a familiar term in 2009.
The increasing prevalence of direct-to-consumer genomics firms; PGx programs initiated by pharmacy services providers; a high-profile anti-gene patenting case; and a contentious healthcare reform debate that put a spotlight on paying for the right drug for the right person might just make 2009 the year personalized medicine started to go mainstream.
With the inauguration of a PGx-friendly President, pharmacogenomics got an unprecedented boost in federally funded research last year. Barack Obama, who during his days as an Illinois Senator introduced a bill to advance pharmacogenomics research, signed the American Recovery and Reinvestment Act as one of his first acts as President, which doled out as much as $45 million in funding from the National Institutes of Health for approximately 80 PGx projects [see PGx Reporter 11-11-2009].
Also under ARRA, the government gave $1.1 billion to fund comparative effectiveness research, which brought to the forefront the importance of looking at pharmacogenomic data to advance treatments that may not work well in the general population, but are particularly efficacious and safe for a subpopulation [see PGx Reporter 11-04-2009]. After the Federal Coordinating Council issued its priorities for CER research in July, personalized medicine advocates were concerned that the council's report focused too heavily on population-based research strategies and not enough on genomic strategies.
The Personalized Medicine Coalition and the Lewin Group issued a report recommending areas where CER should be aligned with genomically guided research into subpopulations [see PGx Reporter 10-28-2009]. Similar encouragement to align CER with pharmacogenomics strategies came from genomics pioneer and new NIH Director Francis Collins. Collins' ascension to the head of NIH during 2009 will likely ensure that genomics research in the context of personalized medicine remains federally funded in the coming years.
But if most people weren't aware of President Obama's support for something called pharmacogenomics or weren't watching Congress debate comparative effectiveness research on CSPAN, they certainly became hip to the changing tides on Oct. 1, when Collins went on the popular news satire show, The Colbert Report, to announce his plans to make "science sexy." During the interview, Collins emphasized the importance of personalizing healthcare and discussed the viability of stem cell research giving host Stephen Colbert crab claws. The idea of personalized medicine had gone mainstream.
Taking PGx Directly to Consumers
Personalized medicine's cool factor was also promoted in 2009 by DTC genomics firms, such as 23andMe.
Having won Time Magazine's 2008 Invention of the Year award and garnering a reputation for throwing “spit parties” for the rich and famous, Google-backed 23andMe in 2009 inked several partnerships and continued to expand its service offerings despite a tough economic climate. The company, having faced regulatory push-back from some state health regulators two years ago, initiated legislation in its home state of California that would issue distinct regulatory standards for DTC genomics firms that outsource their genetic analysis, setting apart these so-called "post-CLIA bioinformatics services" from clinical laboratories [see PGx Reporter 09-30-2009].
One of the most high-profile collaborations in the DTC genomics world was Illumina's partnership with several DTC genomics firms, including 23andMe, Knome, Navigenics, Pathway Genomics and Decode Genetics, to deliver whole-genome sequencing analysis for $48,000. Under the arrangement, Illumina will conduct the raw data analysis and the DTC firms will explain to customers how the findings might impact their lifestyle decisions [see PGx Reporter 06-10-2009].
[ pagebreak ]
The spirit of collaboration in the bourgeoning DTC genomics industry remained strong in 2009, as several firms worked with the Personalized Medicine Coalition, NIH leaders, and other experts to align certain standards and operate in a more transparent manner. However, as DTC genomics firms continued to raise their public profiles, industry observers increasingly questioned the clinical utility of the genetic risk data sold and the clinical validation of the gene associations employed by these services.
Meanwhile, the Coriell Personalized Medicine Collaborative, which offers genetic risk scans for free, continued to criticize the DTC model as premature and inched closer to its goal of genotyping 10,000 people by the end of this year [see PGx Reporter 06-17-2009].
Even though DTC firms continued to promote their services in the popular press and through the internet, educating more people about the wealth of information in DNA about disease predisposition and drug response, the weak economy wasn't kind to the nascent industry [see PGx Reporter 11-18-2009].
23andMe increased the price of its gene scan and ancestry testing package from $399 to $499 this year. The price hike followed layoffs in the company due to pressure from the difficult economy. Similarly, in August, TruGenetics added a notice to its website saying it had stopped accepting new registrations for its genome scanning services as it works to raise money to fund its operations. The company launched earlier this year offering 10,000 free gene scans, the data from which would be used in pharmacogenetics research.
Decode Genetics, parent company of DecodeMe, after struggling to stay afloat for the whole year, in November filed a voluntary petition for Chapter 11 protection in the US. Simultaneously, Decode said it had received an offer by Saga Investments to purchase its Icelandic subsidiary, Islensk Erfdagreining. "IE, which is not declaring bankruptcy, carries out all of Decode’s human genetics work and provides DecodeMe," the company informed its customers in a statement.
PGx at Your Local Pharmacy?
The most promising sign that pharmacogenomics will not only remain in the realm of academia, but will prominently feature in the way drugs are administered in the real world, came in 2009, when the country's largest pharmacy services provider CVS Caremark announced it was expanding pharmacogenomics testing to its pharmacy benefits management customers [see PGx Reporter 12-23-2009].
The year also saw the emergence a new type of company that aims to manage genetic testing services for employers, payors, and PBMs. The company, called Generation Health, is helping CVS expand its PGx offerings. CVS Caremark took a majority stake in Generation Health in December.
Merely the existence of a company such as Generation Health, which is essentially modeled like a PBM but focuses on designing genetic testing programs, signals growing interest among payors and employers in using genetic testing to provide better care and control costs by avoiding adverse reactions.
Certainly, the PBM Medco has long been a forerunner in using genetic testing within its customer base to answer questions about the clinical utility of pharmacogenomically guided drug administration. With the ballooning cost of healthcare and a weakened economy, Medco introduced the "Genetics for Generics" program, which aims to optimize savings for payors by dispensing off-patent drugs with the aid of genetic tests.
With strategies such as the Genetics for Generics program, Medco is hoping to incur savings during a period when numerous brand-name drugs are expected go off-patent. Over the next five years, brand-name drugs with more than $66 billion in annual sales are expected to lose patent protection. Under the program, Medco will perform genetic testing for the anticoagulant warfarin; the breast cancer treatment tamoxifen; the anti-platelet Plavix, which comes off patent in 2011; and certain statins [see PGx Reporter 10-07-2009].
Gene Patenting as a Constitutional Issue
Myriad Genomics' exclusive licensing practices for patents covering numerous BRCA mutations associated with increased risk for developing hereditary breast and ovarian cancer have long been a lightening rod for controversy in the life sciences industry. However, in May 2009, the American Civil Liberties Union challenged the constitutionality of gene patenting in the US in an ambitious case that took on Myriad, BRCA gene patent holder University of Utah Research Foundation, and the US Patent and Trademark Office.
[ pagebreak ]
In its suit, the ACLU is challenging the entire practice of gene patenting by asserting it restricts the pursuit of research and is an affront to the First Amendment. In challenging the constitutionality of gene patenting the ACLU has made its case not just a matter of Myriad's licensing practices, or hindered research, but about a question of individuals' fundamental rights and the ownership of information contained in DNA.
Myriad tried to have the case dismissed before it even reached the courtroom, but the ACLU struck back by filing to have the case decided by summary judgment [see PGx Reporter 09-16-2009].
The presiding judge denied Myriad's motion to dismiss. The New York Southern District Court will hear oral arguments for the ACLU's summary judgment motion on January 21.
Outside of the courts, meantime, an HHS advisory group drew the ire of industry and university research patenting groups by issuing recommendations to limit gene-association patents [see PGx Reporter 10-14-2009].
The HHS Secretary's Advisory Committee for Genetics, Health, & Society recommended that the HHS Secretary support and work with the Secretary of Commerce to promote statutory changes that would exempt from infringement liability anyone developing or selling a test based on patent claims on genes for patient care or for research. Additionally, the group issued intermediary proposals urging industry and academia to practice ethical licensing practices; discouraging and restricting single-laboratory exclusive licenses; creating an advisory body to assess the impact of gene patenting and licensing practices; and clarifying whether the Bayh-Dole Act gives agencies the power to influence how patent holders license their inventions.
The SACGHS' recommendations were so controversial, that at its October meeting, the group could not come to a vote on the recommendations. Ultimately, the group agreed to hold off on voting on the recommendations until the opinions of dissenting members were incorporated into the full report.
In addition, the outcome of Bilski v. Kappos, a case before the Supreme Court seeking to define the circumstances under which processes not linked to a machine or to the transformation of physical matter — including genetic risk associations — are patentable, could also end up impacting the patentability of genes [see PGx Reporter 11-18-2009].
Those who disagreed with the SACGHS' recommendations urged the task force to hold off on proposing congressional action and statutory changes to patent law until the Bilski and ACLU cases are decided.
If nothing else, the ongoing debate and the broad potential impact of these lawsuits on research and on multiple industries has ensured that the public will be thinking about the ethical, legal, and social quandaries associated with genetic testing and personalized medicine while watching these cases unfold in 2010.