August 31, 2004

The completion of the human genome sequence in April 2003 is unquestionably a landmark achievement in the history of modern science. This remarkable tour de force has paved the way for an inevitable deluge of discoveries that will impact our understanding of basic biological processes, what goes awry when disease strikes, and ultimately, how we can find treatments to improve human health. The daunting task of translating genomic information into useful treatments will no doubt take years, if not decades, of basic and clinical research. However, more immediate on the horizon is the discovery of genetic mutations associated with human disease. Although tests for many genetic diseases are already available, this number is expected to rise exponentially with the genome sequence now in hand. How should this information be used? Who should have access to such information? What are the benefits and potential harm of this information to individuals, to scientists, to society? These are pressing issues that need to be addressed by a myriad of experts in areas ranging from ethics, law, education, public policy, social science, and medicine.

The need to address such issues has been recognized since the inception of the U.S. Human Genome Project (HGP) in 1990, funded jointly by the National Institutes of Health and the Department of Energy. To this end, the ELSI Research Program was created by the HGP to identify and address the ethical, legal and social implications of genomic research as basic scientific discoveries and decisions were being made at the bench. The ELSI Research Program, which is currently administered by the National Human Genome Research Institute (NHGRI), has funded numerous single-investigator grants in the past, but has recently committed to expanding the program to include multi-investigator grants called “Centers for Excellence in ELSI Research” or CEER. The interdisciplinary nature of ELSI research necessitates this type of funding mechanism, whereby researchers with very different strengths can contribute their expertise toward the common goal of making biomedical research accessible and beneficial for society.

A group of 15 UNC investigators led by Don Bailey, director of the Frank Porter Graham Child Development Institute, were recently awarded a “planning grant” for a CEER from the NHGRI. These researchers are drawn from a variety of disciplines and departments throughout campus, including Social Medicine, Public Health, Law, Nursing, Anthropology, Genetics, and Medicine. Many of these disciplines are already represented in the Carolina Center for Genome Sciences, which is committed to translating cutting-edge genomics research into public-health practice. The Center will provide a formal mechanism and organizational infrastructure to promote interactions among the ELSI investigators as well as other relevant researchers. The two-year planning grant will allow the ELSI group to establish an interdisciplinary team of investigators, develop collaborations with key constituents, collect preliminary data on several research initiatives, and design a training program for the next generation of ELSI scholars. These ambitious first steps will hopefully lead to a large-scale CEER award, which would increase funding significantly and provide the long-term commitment needed for a fully integrated center for state-of-the-art ELSI research.

The major theme of their proposal is large-sample gene discovery and disclosure. In the past, most studies addressing human genetics and ELSI issues focused on specific diseases, using relatively small sample sizes. However, the post-genomic era has ushered in an entirely different approach to research that allows scientists to test significantly more individuals for significantly more genetic markers, in less time and at lower cost. Bailey and colleagues argue that this scale-up of genetic information will invoke new ethical, legal, social, and policy challenges that are unique to this post-genomic society. Three ongoing research initiatives at UNC that will be the focus of their ELSI efforts are: newborn screening for Fragile X syndrome, The National Longitudinal Study of Adolescent Health, and a new campus-wide DNA banking resource. Each of these projects provides a unique ELSI perspective on several important themes that will explore questions such as: Are current consent procedures adequate? Who accepts or declines genetic testing and why? What are the ethical, legal and policy implications of translating research to widespread application? What are the training needs of healthcare providers, researchers, policy makers and government regulators?

Much of the excitement and promise derived from genomics has been focused on the potential for scientific breakthroughs and their impact on medicine. Indeed, two of the “grand challenges” envisioned by the NHGRI for the future of genomic research are themed “Genomics to Biology” and “Genomics to Health” (Nature 422:835-847). Equally important and probably the most difficult challenge may be the third and final one called “Genomics to Society.” The NHGRI clearly recognizes the immediate impact that genomic information can and will have on all of us. Thus, it is critical that healthcare practices and government policies keep up with the rapid pace of genomic research so that society can benefit maximally, while minimizing any potential harm. Bailey and his interdisciplinary ELSI team are meeting this challenge by drawing upon UNC’s existing strengths in genomics, clinical genetics, social science, ethics, and law to create innovative strategies for addressing ELSI issues.

For additional information, see NHGRI press release.

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