Informed Consent
The Genomics and Personalized Medicine Act Returns to Congress
Meggan Bushee is a student at the Wake Forest University School of Law.
This past May, Congressman Patrick Kennedy (D-RI) and Congresswoman Anna Eshoo (D-CA) re-introduced a personalized medicine bill to the U.S. House of Representatives. The bill was originally introduced in 2006 by then-Senator from Illinois Barack Obama. While HR 5440, also known as the Genomics and Personalized Medicine Act of 2010 (GPMA 2010), has retained the name of the bill originally introduced by Senator Obama, its approach to the regulation of personalized medicine has taken a new direction.
GPMA 2010 is the fourth version of the GPMA since the original bill of 2006, and includes the most ambitious initiatives of all of its predecessors. Why has the GPMA re-surfaced after three prior versions failed to make it out of committee? According to Representative Kennedy, the bill has been re-introduced in response to increased public awareness and use of genomic tests. At present, GPMA 2010 is before the House Committee on Energy and Commerce. This is the same committee that recently conducted high-profile hearings to review the current state of the direct-to-consumer (DTC) genetic testing registry.
The Havasupai Indians and the Challenge of Informed Consent for Genomic Research
Pulitzer Prize-winning journalist Amy Harmon, of The New York Times, reports that a long-running dispute between Arizona State University (ASU) and the Havasupai Indians over the allegedly improper research use of DNA from members of the tribe has been settled.
The research began two decades ago, ostensibly to search for a genetic variant that might be contributing to the increasing rate of diabetes in the tribe. The diabetes research proved unfruitful, but the blood donated by the Havasupai tribe members, and the DNA extracted from it, led to a number of follow-on research projects, grants and publications. It was that research – including searching tribe members’ DNA for variants linked to schizophrenia, and inferring the likely ancestral origins of the tribe’s founders – that led to lawsuits, millions in legal fees and, ultimately, the settlement.
Implications of the Havasupai Settlement. Harmon’s article provides a concise background to the dispute, and briefly describes the $700,000 settlement between ASU and the tribe to “remedy the wrong that was done.” Harmon and unnamed “legal experts” suggest that the settlement is significant because “it implied that the rights of research subjects can be violated when they are not fully informed about how their DNA might be used.”
In some respects, this is a trivial conclusion. One of the most important and well-known elements of the Common Rule – the regulatory regime that governs federally-funded human subjects research – is that researchers must seek, and participants provide, informed consent. Participants that are uninformed cannot provide valid consent and, thus, their rights as subjects are violated. In that respect, at least, the Havasupai case tells us nothing new. (I have not seen the settlement, but I doubt that it will (a) be made public or (b) contain an express admission of guilt from ASU, both factors that will limit its relevance to future similar scenarios.)
Genomic Privacy and Re-Identification Redux
New research published this week in the Proceedings of the National Academy of Sciences from Loukides et al. offers up a new method for preserving individual privacy while linking genomic and healthcare data. (“Anonymization of electronic medical records for validating genome-wide association studies.”) Daniel Cressey of Nature News and Katharine Gammon of Technology Review have concise (and free) summaries.
As we’ve written earlier (“Back to the Future: NIH to Revisit Genomic Data-Sharing Policy”), the ability to link – and to share – genotype and phenotype data (including medical records, particularly treatment and outcome data) will be essential to the development of the next generation of genomic research. One of the most common ways to link genotype and phenotype data is to combine genomic data with electronic medical records (EMRs). A particular patient’s EMR may contain everything from basic biographical information to family medical history to current diagnoses, including ICD codes. When it comes to associating genes with medical conditions, researchers rely on International Classification of Disease (ICD) codes to categorize individual patients by disease type and search for shared genetic variations that might play a causal role.
Cracking the Codes. Obviously identifying information (e.g., biographical information) is generally required to be removed pursuant to HIPAA regulations. ICD codes, however, are sometimes retained for purposes of genetic association research and, in some circumstances, a set of otherwise anonymous ICD codes pulled from an EMR can be traced backwards to identify the specific individual supplying the codes.
The Texas Newborn Bloodspot Saga has Reached a Sad – and Preventable – Conclusion
Contributed by Ann Waldo, Senior Counsel at Genetic Alliance.
In late February, the state of Texas incinerated 5.3 million newborn bloodspots.
The background – the Genomics Law Report has had several posts (here and here) about the ongoing situation involving 5.3 million newborn bloodspots in a state biorepository in Texas. Often referred to as “residual” bloodspots, these are the tiny dried bloodspots left over after states conduct mandatory screening for specified diseases. State practices regarding retention of the residual bloodspots vary widely, with some destroying them promptly and others storing them indefinitely. Where post-screening use of the bloodspots occurs, the most common use is for quality assurance and quality control of the screening tests. Some states also permit the release of small sets of bloodspots for research.
Any such research must be done in compliance with the federal Common Rule applicable to clinical research and HIPAA, the federal medical privacy law. To simplify these laws’ complex requirements – what researchers must do depends on whether the samples or information will be made available in an identifiable or de-identified form. If a researcher receives identifiable information, then informed consents, privacy authorizations, and Institutional Review Board (IRB) reviews are mandatory. If the researcher receives only de-identified samples or information, no parental consent or privacy authorizations are required, although some states, including Texas, still insist on IRB review.
The Texas Newborn Blood Spot Saga Continues
Contributed by Allison Williams Dobson of the Center for Genomics and Society at the University of North Carolina at Chapel Hill.
The Texas Department of State Health Services (DSHS) could soon face a new federal lawsuit in light of the discovery that it sent 800 anonymous newborn blood samples to a U.S. military DNA lab in 2003 and 2007. As discussed in a post by Adam Doerr on February 2, Texas Civil Rights Project lawyer Jim Harrington successfully negotiated a settlement in 2009 to have DSHS destroy 5.3 million newborn blood samples because it did not obtain informed consent from parents to use the samples for research. Now DSHS has come under criticism over samples it had already released for approved research.
The Texas Tribune reported last Monday under the headline “DNA Deception” that its review of nine years’ worth of e-mails and internal documents, obtained under state sunshine laws,1 revealed a DSHS agreement to help the military build a national mitochondrial DNA (mtDNA) database. The Armed Forces DNA Identification Laboratory claims a legitimate research purpose for the newborn DNA samples—to improve the identification of missing person remains through analyses of highly stable mtDNA.2 Because mtDNA generally lasts longer in a wider variety of tissues than nuclear DNA, it is also more likely to be recovered from particularly old or decayed remains.
GLR Update: Australia Tackles Disclosure of Genetic Information without Consent
Last fall, the Genomics Law Report reviewed new medical confidentiality guidance from the U.K. General Medical Council (GMC) and wondered whether the “public interest” was a sufficient justification for the disclosure of patients’ genetic information without their consent.
Since that time, Australia’s National Health and Medical Research Council (NHMRC) has tackled the same issue, publishing new privacy guidelines for health practitioners on the disclosure of genetic information (pdf).
In each case, the basic thrust of the guidance for medical practitioners is the same – there are certain circumstances where a patient’s genetic information may be disclosed against his or her wishes. However, the guidance from the GMC and the NHMRC does differ in several important respects.
First, while the GMC’s guidance applies to all doctors in the United Kingdom, the NHMRC’s guidance is restricted to Australian doctors in private practice. The NHMRC’s guidance also restricts its applicability to the disclosure of genetic information to living genetic relatives for medical purposes. Disclosures relating to unborn children (e.g., information related to embryos or carrier status), to legal but non-genetic relatives (e.g., adopted children or spouses) or for genetic research are all outside of the scope of the NHMRC’s guidelines. The GMC’s guidelines, on the other hand, contain no such specific limitations, referring only to the practitioner’s responsibility to balance the patient’s interests against those of others, and to disclose genetic or other information when justified in the public interest.
Newborn Blood Spot Litigation: 70 Days to Destroy 5+ Million Samples
Sometime in the next few months, Texas will destroy more than 5 million blood samples collected from newborn babies across the state over the past seven years. The lawsuit that led to this result—agreed to as part of a settlement reached between the state and a civil rights group representing a group of parents—illustrates a number of interesting points about the law and litigation of genetics issues.
As we discussed in A Closer Look at Biobanking of Newborn Blood Spots, states collect blood samples from most infants born in the United States each year, with the goal of detecting and treating a variety of potentially serious conditions. The Texas Department of State Health Services (DSHS) has been collecting newborn blood samples from babies born within the state since the 1960s. Texas currently tests for conditions including cystic fibrosis, endocrine disorders, fatty acid disorders, and others—28 disorders in all (pdf). At least some of the samples are apparently subjected to genetic testing for hemoglobinopathy, phenylketonuria, and galactosemia.
Meet the New deCODE, Same as the Old deCODE?
When deCODE genetics declared bankruptcy last fall it made a big splash. Geneticists pondered the future of the Icelandic biotechnology company’s one-of-a-kind genetic database and research platform, while investors and creditors wondered if they were going to be left out in the cold.
The initial bankruptcy buzz gave way over the past several months to a steady but relatively unremarkable stream of filings in the United States Bankruptcy Court for the District of Delaware (the case is No. 09-14063). Last week, however, brought a noteworthy docket entry, with the bankruptcy court approving the sale of most of deCODE genetics Inc.’s assets to Saga Investments LLC (pdf) – an investment company whose owners include Polaris Venture Partners, ARCH Venture Partners and genomic sequencing giant (and DTC genomics dabbler) Illumina.
A Holiday Fire-Sale? The sale, as approved by the bankruptcy court, sends substantially all of deCODE genetics Inc.’s assets – including its valuable genetic research engine that is driven in part by its access to its large Icelandic population database – to Saga Investments. As we described back in November, the bankruptcy sale process required a Stalking Horse bidder (Saga Investments) and a sale and auction process that, at least in theory, allowed other interested parties a chance to step in and make a bid for deCODE’s assets. No other bidders came forward, and the sale to Saga Investments was approved in just under two months.
What ELSI was New? Plenty.
From October 5 to December 8, 2009, the Genomics Law Report featured a series of thirty-six guest commentaries by industry, academic and thought leaders in the fields of genomics and personalized medicine. Entitled What ELSI is New?, the series, which we have organized into an e-book (pdf), asked each contributor to briefly respond to the following question: “What do you believe is the most important ethical, legal or social issue (ELSI) that must be addressed by the fields of genomics and/or personalized medicine?”
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
Read the rest of this entry »
Disclosure of Patients’ Genetic Information Without Their Consent–Is the “Public Interest” Really a Sufficient Justification?
New guidance issued by the U.K. General Medical Council (GMC) regarding a physician’s ability to disclose to a patient’s relatives the diagnosis of such patient’s genetic illness1 has recently been a hot topic of discussion on several online forums.2 The guidance, which became effective on October 12, 2009 and addresses medical privacy issues in a variety of contexts (not just genetic information sharing), recognizes that the diagnosis of a patient’s genetic illness may indicate the likelihood of the same illness in the patient’s close blood relatives. The GMC suggests that a physician’s first obligation after diagnosing a genetic illness is to explain to the patient the likelihood that close relatives are also at risk and to encourage the patient to discuss his or her illness with relatives. However, should the patient refuse to voluntarily disclose the illness to at risk family members, the physician may disclose such information if disclosure would be “justified in the public interest.” Physicians are instructed to balance their duty to provide care to the patient against their duty to protect others from serious harm.3
