Is There an Obligation to Return Genetic Data to Research Participants? Kaiser Responds to 23andMe’s TEDMED Criticism
Earlier today, in the latest installment of the What ELSI is New? series, Daniel MacArthur asked a question that has cropped up repeatedly in recent weeks and months as part of the broader discourse surrounding genetic research and commerce: what rights should individuals have to gain access to their personal genetic or genomic data?
MacArthur’s position – that research participants should generally be provided with complete access to their own genetic data upon request – is one that continues to remain a minority position. It finds support in research initiatives such as the Personal Genome Project (PGP) and (to a lesser extent) the Coriell Personalized Medicine Collaborative (CPMC), but returning research results has generally been eschewed by other large-scale genetic research projects, including Kaiser Permanente’s recently announced Research Program on Genes, Environment, & Health (RPGEH).
Last month, the Genomics Law Report examined the RPGEH and its reluctance to return genetic data to a participant population that is expected to quickly grow to 100,000 or more Kaiser patients. RPGEH’s decision not to return data to its participants was under the microscope again last week at TEDMED 2009 when 23andMe co-founder Anne Wojcicki criticized Kaiser for planning to genotype RPGEH participants without offering them the ability to review their data.
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Kaiser’s Massive Genetic Database Leverages Its Patient Population (But It’s A One Way Street)
This week MIT’s Technology Review featured a story about Kaiser Permanente and its plans to use its Northern California patients to construct an enormous genetic database. The acronym-unfriendly Research Program on Genes, Environment, & Health, or RPGEH is funded in large part by a $25 million NIH research grant courtesy of February’s stimulus bill. The program will genotype 100,000 patients using SNP array technology from Affymetrix. If all goes well, the project will expand to as many as 500,000 patients by 2013.
What makes the RPGEH proposal so exciting, from a research perspective, is not just the 700,000 SNPs that will be genotyped for 100,000 patients, although that alone would represent one of the largest genetic research databases currently in existence. The real value lies in the marrying of genetic information with robust medical, environmental and other phenotypic data that Kaiser already maintains as a health care provider. From the RPGEH’s official description:
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U.K. Human Genetics Commission Proposes Principles for DTC Genetic Testing Services
Last month, the Human Genetics Commission, the U.K. government’s genetics advisory body, issued for public comment a “Common Framework of Principles” for direct-to-consumer (DTC) genetic testing services. The Principles are derived from earlier reports by the Commission (Genes Direct (2003) (pdf) and More Genes Direct (2007) (pdf)) and seek to:
…promote high standards and consistency in the provision of direct-to-consumer genetic tests among commercial providers at an international level in order to protect the interests of people seeking genetic tests and their families.
The Principles, which are ambitious in scope and detailed in their recommendations, represent an important next step in the ongoing debate over the appropriate level of oversight for the emerging DTC genetic testing industry.
Published in draft form, the Principles provide ample room for analysis, and companies and consumers are invited to provide responses and comments until December 6th, 2009.
In this post we take a close look at the draft Principles and summarize the core values and goals that appear to underlie these recommendations.
New Fuel for the Genomic Privacy Debate
The growth of prominent genomics research and direct-to-consumer (DTC) commercial services that combine genomic data with phenotypic data, environmental data and personal health surveys continues to spur debate over the appropriate privacy safeguards and expectations for individuals who participate in such research or enroll in such services. From large-scale genomic research projects such as the Coriell Personalized Medicine Collaborative (pdf) and the UK BioBank to popular DTC genomics services such as those offered by Navigenics, many influential players in the public genomics space continue to strongly emphasize their commitment to absolute data privacy. Prominent skeptics, including geneticist George Church and lawyer and ethicist Hank Greely, argue that any such privacy promise is impossible to keep because of the inherent nature of such genomic data, particularly when paired with phenotypic data or other potentially personally identifying information.
Two recent developments may add further fuel to this debate. First, California recently issued a report on the first five months of results from a new state law (effective January 1, 2009) requiring health care organizations in California to report breaches in the security of personally identifiable health information. In publishing the report the California Department of Public Health was surprised at the high volume of reports and confirmed 116 privacy breaches during the five-month period, most of which were inadvertent. Given the early results, the agency expects the number of reported breaches to increase dramatically as organizations become more familiar with their reporting obligations.
Navigenics Announces Clinical Partnership with Toronto’s Medcan Clinic
Genetic testing provider Navigenics has announced a partnership with the Medcan Clinic, a preventive healthcare clinic located in Toronto, Canada. According to the press release, Medcan will use a version of the Navigenics genotyping service, in combination with family history information, to offer patients an analysis of those “genetic risks that are clinically actionable, allowing patients to lower their risk through prevention strategies and more personalized screening.” The focus on clinically or medically actionable strategies is consistent with the approach taken by the Coriell Personalized Medicine Collaborative (CPMC), which is studying the effect of providing information on “medically actionable” genetic risk factors to its participants. (Interestingly, one of the conditions highlighted by the MedCan-Navigenics release is Alzheimer’s disease, which is not a medically actionable condition in the eyes of the CPMC.)
Genomic Research Goes DTC
The first generation of Direct-to-Consumer genetic testing and sequencing was populated by companies such as 23andMe, Navigenics and deCODEme that offered genotyping for a limited set of conditions, focusing primarily on genealogy and monogenic traits.
As the cost of generating genetic data continued to decline new companies brought new commercial offerings to the table, including whole-genome sequencing from Knome and, more recently, Illumina, and an increasing focus on the genetics underlying complex diseases and traits.
Recruiting Customers as Research Subjects
Even more recently a new dimension to the field of DTC genetics has emerged: Direct-to-Consumer research. In May of 2008 23andMe’s founders laid out their vision for customer-driven research. 23andWe, as the company’s research arm is known, launched its first significant project in March of this year when, aided by financial support from Sergey Brin, the co-founder of Google and the husband of 23andMe co-founder Anne Wojcicki, 23andMe announced a large-scale study aimed at the genetic bases of Parkinson’s disease. The study aims to recruit 10,000 patients with Parkinson’s disease to enroll. Participants in the study will receive 23andMe’s services for $25, a steep discount from the going rate of $399.
And on Tuesday, 23andMe announced what it is terming the “Research Revolution, a community outreach program that empowers people to drive the direction of genetic research.” In some ways this Research Revolution is genomic research meets American Idol, with the general public invited to vote by participating in the project and choosing from a list of 10 diseases to support. (Participation costs $99 for a stripped-down version of 23andMe’s service that does not include several key features, including ancestry information, carrier testing and access to the underlying raw genetic data).
