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NHGRI to Dive into Ethical, Legal, Social Issues

By Matt Jones

NEW YORK (GenomeWeb News) – As genomics tools and genetic knowledge begin to transform medicine and genomics is applied in numerous ways beyond biomedicine, the National Human Genome Research Institute has made studies of the ethical, legal, and social implications (ELSI) of this progress an important part of its strategic vision for future efforts.

The institute recently issued three new grant programs under its ELSI program, which annually receives 5 percent of NHGRI's budget, to fund research into four core areas it has identified as dynamic, important, or in need of attention, NHGRI officials told GenomeWeb Daily News.

Each of these genomics priority areas, including research, healthcare, societal issues, and legal and policy issues, encapsulate a much larger array of topics and issues that NHGRI has identified and could include others not yet defined.

Patient privacy, discrimination, genetics in criminal courts, patent issues, biobanking policies, questions of ethnicity and race, child-bearing and rearing, and questions about identity, ethnicity, and genetic determinism are some of the numerous issues in the ELSI genomics constellation that NHGRI seeks to address.

Genomic information will challenge all of us as individuals and as a society as we seek to understand what it means for ourselves, for our families and for our global cultures," NHGRI Director Eric Green said in a statement last week. "NHGRI is more committed than ever to funding research that studies the issues stemming from the knowledge and use of genomic information and its relevance to everyone, from individuals, to families and communities, to society at large."

The three new requests for funding include an R01 research project grant program that will provide researchers with up to $500,000 over three years, an R03 small grant program that will award grants of up to $100,000 over two years, and an R21 development research grant award that will fund requests of up to $275,000 over two years.

Jean McEwen, who is program director of NHGRI's Ethics, Legal, and Social Implications Research program, told GWDN yesterday that the four core research areas were generated through NHGRI's strategic planning process and through subsequent discussions with other NHGRI council members and other experts in the field.

"Most of these issues are the ones that people see as high priority areas, arising from where they see the science going, and not necessarily just the scientific agenda of the genome institute per se, but the whole field of genomics in general," McEwen said.

One of the four priority areas, genomics research, will seek to explore the issues that spring from the production, analysis, and sharing of individual genomic information. These cover a broad group of activities, such as study recruiting, data sharing and security, third-party benefits and risks of genomic information (such as family members), fairness in distribution of research benefits, governance for genomic repositories and newborn bloodspots, and others.

McEwen said some of these issues arise because genomics researchers now are generating vast amounts of data from across a person's entire genome, much more than just a simple medical test, and because "in order to mine the data most effectively, you really need broad data sharing," which can lead to a loss of control over data.

"We're looking across the genome, and we're putting the data out there for people to mine, so that it can lead to discoveries more quickly. But as soon as you do that, it raises a lot of issues about privacy, informed consent, and that sort of thing," she said.

In another core area, genomic healthcare, NHGRI's ELSI office aims to fund research into how rapid advances in genomics and the availability of genomic information influence how healthcare is provided and how it affects individuals, families, and communities.

These would fund research into issues surrounding the whole area of personalized medicine and "all the issues that raises for the healthcare system more broadly in terms of access to services or follow-ups based on a person's genomic information," McEwen said.

These issues could involve the fairness of how genomic and genetic services are made available or reimbursed, how electronic health records will use genomic information, how genomic information is communicated between doctors and patients in clinical settings, and how pharmacogenomic tests and other genomic therapies are reimbursed.

"These are not real problems yet for every primary care provider, but increasingly we're seeing – as genomic medicine makes its way into some specialty areas – there are some places where these issues are already becoming problems," she said. "As the costs of generating this information continues to come down … I think we can expect that [these issues are] going to proliferate in a wider range of healthcare settings, so that within a few years these kinds of problems will be much more widespread."

A third priority area will fund studies to look into broader societal issues related to genomics, such as ethical issues related to special populations, the potential blurring of lines between healthcare and research, and implications of how genomic information and knowledge could affect human understanding of concepts such as free will and individual responsibility.

Joy Boyer, a program analyst at NHGRI, told GWDN that grants in this area will consider how genomics impacts and affects "how we conceptualize health and disease, how we understand our relationship to each other… and it can touch on issues surrounding what it means to be human, and what distinguishes us from other animals."

Research in these areas can be cross-cutting and interdisciplinary and could include studies by lawyers and philosophers of how genomic information is used in various settings.

Another core research area will look into legal, regulatory, and public policy issues such as how direct-to-consumer tests should be marketed or regulated, liability issues related to biobanks, genetic discrimination and stigmatization, and the non-medical uses of genomics in criminal and civil courts, employment, education, and the military.

"The research data that comes out of these studies really helps to inform how we think about policies, and how we conceptualize the foundations of policies," said Boyer. "This kind of information isn't immediately applicable to policy development, but it forms the foundation on which you can build sound policies that are consistent with our societal beliefs and norms."

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