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Dec 4, 2013

Taking the Genome for a Test Drive

BRCA research pioneer Lawrence Brody, Ph.D., will steer NHGRI’s new Division of Genomics and Society.

Taking the Genome for a Test Drive

Dr. Brody’s division strives to shed light on the social, ethical, legal, and even economic issues likely to arise from the wider use of genomics in clinical settings. [NIH]

  • Soon after his lab in 1994 was among the first to report a link between BRCA1 and BRCA2 and breast and ovarian cancer in women, then between specific BRCA1 mutations and higher frequency in Ashkenazi Jews, Lawrence C. Brody, Ph.D., set out to make connections beyond the bench.

    Dr. Brody and colleagues followed up with a survey of 5,318 Jewish men and women in the Washington, DC, area, comparing results from anonymous genetic testing of blood samples with personal and family cancer histories. Fewer mutations were found in all age and cancer history subgroups than predicted from models based on data from cancer genetic screening clinics. Participants were disproportionately female, well-educated, and affiliated with synagogues and other Jewish organizations.

    Questions raised by the research sparked Dr. Brody’s interest in the societal impacts of genetics and genomics—issues he and staffers will explore in his new position as the first director of the newly established Division of Genomics and Society at NIH’s National Human Genome Research Institute (NHGRI).

    A 20-year NIH veteran, Dr. Brody has relinquished his post as chief of the Genome Technology Branch within NHGRI’s intramural research program, a position he has held since 2010. He will retain the post he’s held since 2006 as CSO of the trans-NIH Center for Inherited Disease Research (CIDR), an NIH-funded facility operated by Johns Hopkins University that provides next-generation sequencing and genotyping services to investigators. In his new position, as at CIDR, Dr. Brody is expected to interact with all of the agency’s 27 institutes and centers.

    Dr. Brody’s division will strive to generate data it hopes will shed light rather than heat on the social, ethical, legal, and even economic issues likely to arise as better understanding of the genome enables wider use of genomics in clinical settings. The division will employ five or six direct staffers.

  • Looking to Clinic, Community

    “We’re hoping to get out and take the genome for test drives,” Dr. Brody told GEN. “We would hope that clinicians at all levels would be interested in participating in some of these test drives, in the form of research projects.”

    Dr. Brody would not discuss upcoming projects, but did say they are envisioned as taking place beyond the large academic medical centers that have traditionally driven clinical research, into community institutions: “Most of the country probably does not receive its average healthcare from academic medical centers, so I think we would expect to be looking at other caregiver organizations as well.”

    “What we want to do with genomic advances is try to do our homework either as we’re doing it, or ahead of time,” he said—to find out, for example, if people can be stratified for colon cancer screening based on biomarkers and other genetic data rather than simply age, then study how that could be implemented, and its effects on healthcare delivery and reimbursement.

    “Genetics has that potential. I don’t think we’re exactly there for that example yet, because we’re not that great at predicting risk, but that would have the potential to change the system,” Dr. Brody said. “We’re not at the stage where we can just introduce more and more expensive technology into the healthcare system.”

    In articulating a primarily research role to inform NIH policymakers at the intersection of science and society, Dr. Brody’s division differs from entities in and outside government that have recommended, or will recommend, more prescriptive answers.

    The Presidential Commission for the Study of Bioethical Issues, for example, last year urged that individual genetic privacy interests be respected and secured—in part by Washington joining states in developing “a consistent floor of protections” ensuring security for whole-genome sequence data. Until now, federal action has been limited to the Genetic Information Nondiscrimination Act of 2008 (GINA), which bars employment discrimination based on genetic information.

    This past November, Kaiser Permanente joined the University of California, San Francisco (UCSF), and UC Hastings College of Law in announcing the launch of the Center for Transdisciplinary ELSI Research in Translational Genomics.

    Over three years, CT2G will study the ethical, legal, and social implications (ELSI) of translating genomic findings into clinical care, with an eye to educating professionals about the issues that underlie genomic data privacy. The importance of privacy, and how easily it can be breached, were illustrated earlier this year when Yaniv Erlich, Ph.D., and colleagues at the Whitehead Institute needed just a computer, an Internet connection, and publicly accessible online resources to identify nearly 50 individuals who had submitted personal genetic material for genomic studies.

    CT2G, which is funded through a $780,000 NHGRI grant, will have working groups examine race/ethnicity and sex/gender in translational genomics, the boundary between genomics research and clinical care, and community governance and genomics. CT2G’s co-directors are Barbara A. Koenig, Ph.D., of UCSF and Carol P. Somkin, Ph.D., a research scientist with Kaiser Permanente.

    “It is heartening to see increasing recognition of the importance of ELSI and wider considerations in preparing for the growth in genomic medicine internationally; increased knowledge and understanding of such issues can only be a good thing, and multidisciplinary input is vital,” the U.K.’s nonprofit PHG Foundation said in a statement, citing both CT2G and Dr. Brody’s appointment.

  • Building on ELSI Priorities

    Dr. Brody’s division is expected to build upon the work of NHGRI’s ELSI research program, established in 1990 as part of the Human Genome Project. In 2011, that program articulated four research priorities in a strategic plan for the future of human genome research, called Charting a Course for Genomic Medicine from Base Pairs to Bedside:

    • Design and conduct of genomic research including production, analysis, and broad sharing of individual genomic data, often coupled with detailed health information.
    • Effects of advances in genomic technologies and their torrents of data on healthcare, and how that in turn affects the health of individuals, families and communities.
    • Underpinnings of beliefs, practices, and policies regarding genomic information and technologies, and their implications for understanding health, disease, and individual responsibility.
    • Effects of existing genomic research, health, and public policies and regulations, and the development of new policies and regulatory approaches.

    He said the added research wouldn’t necessarily pose the risk of slowing down development of new medicines needed by patients—an argument industry can be expected to make based how drug developers initially chafed at FDA’s requiring additional studies during clinical trials almost a decade ago.

    “I don’t think it would if you build in data gathering in such a way that we hope it’s pretty usable for evaluating outcomes—not just the outcomes for health, but also the outcomes for patients’ understanding and well-being as well,” Dr. Brody said. “That model would be a missed opportunity if we didn’t try to do that.”

    Dr. Brody joined NHGRI in 1993 as a senior staff fellow, and eight years later became senior investigator and head of the Molecular Pathogenesis Section in the Genome Technology Branch. At NHGRI, he co-created the Multiplex Initiative designed to improve understanding of how the general public comprehends and reacts to personal genetic testing results.

    Also at NHGRI, Dr. Brody collaborated with researchers at Howard University to describe mutations and rare variants in BRCA1 carried by African-Americans with breast and ovarian cancer from 74 families. Eight distinct protein-truncating mutations were detected in six women and two men, with two of the eight not having been previously described. Of 11 different polymorphisms identified in high-risk African-American breast cancer patients, four may be unique to African Americans.

    Dr. Brody’s experience dealing with distinct populations should help his new division persuade key stakeholders—both within government and the research community—that it can effectively address the societal questions arising from genome research, and that addressing those questions will ultimately produce better research, with better data through which not only investigators benefit, but ultimately patients as well.



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