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SACGHS Wraps Up with Recommendations on Sequencing, Comparative Effectiveness

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) – The Secretary's Advisory Committee on Genetics, Health, and Society closed its final meeting Wednesday — after nearly a decade during which it produced a number of in-depth reports and issued approximately 60 recommendations — by scrambling to prepare its guidance for the US Department of Health and Human Services on some straggling issues and accepting the gratitude of National Institutes of Health Director Francis Collins.

Collins, who told the committee in a recent conference call that it had fulfilled its charter and would be dissolved, said at the meeting in Bethesda, Md., on Wednesday that the group has "taken on a substantial number of topics" since its inception, and that it has made "substantial progress" on genomics-related issues.

Collins said that SACGHS "leaves us with a remarkable record of accomplishment and guiding principles" for how genetics and genomics will make its way into medicine and research, and that it has played "a key role in setting the stage" for how these new tools will be addressed and handled by the healthcare system.

At its final two-day meeting – the committee will officially shut down in about six months – SACGHS raced to wrap up several remaining tasks.

Completing one major effort that was years in the making, the group put the finishing touches on a set of recommendations that it will send to HHS Secretary Kathleen Sebelius concerning genetics and genomics education.

SACGHS worked on drafting a letter that outlines several key issues and guiding principles that it would like HHS to consider. The letter and the policy proposals it contains, when released, will likely cover a set of issues including whole-genome sequencing, genomic data sharing for research, clinical validity, and how genomics may fit into comparative-effectiveness studies.

When it was founded in 2002, the committee was tasked with tackling a range of issues, such as how genetic and genomic technologies will be integrated into health care; the clinical, public health, ethical, economic, legal, and societal implications of these technologies; identifying gaps in research and in data collection; studying the impacts of patent policies and licensing practices; and looking into how these new technologies are used in education, employment, insurance, and law.

"In reviewing the SACGHS charter and body of work, the NIH Director and the Secretary recognized and appreciated that the major topics related to genetic and genomic technologies had been successfully addressed by the committee through its comprehensive reports and recommendations over the years," Sarah Carr, associate director of the NIH's Office of Biotechnology Activities and a lead organizer of the committee's activities, explained in a recent e-mail to committee members.

Yesterday, Collins hinted that additional factors may have influenced the decision to let SACGHS sunset.

"We are at a point with difficult budgets and other complexities that the department as a whole has had to take stock of," Collins explained. "The other thing that has happened is that genetics has moved more into the mainstream, and its exceptionalism is now less prominent than it once was."

Moving forward, the duties SACGHS has been performing will be covered by several other committees, such as the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children, the US Food and Drug Administration's Medical Devices Advisory Committee, and the Presidential Commission for the Study of Bioethical Issues, NIH Office of Communications Director John Burklow told GenomeWeb Daily News last week.

Although the letter and statement SACGHS will send to Sebelius is not yet finalized, the committee agreed largely on its contents and its intent, particularly in regards to the importance of issues brought on by the rapidly decreasing costs and increasing power of whole-genome sequencing.

The committee plans to urge the HHS Secretary to convene a group of experts and stakeholders to address challenges and opportunities that arise from the incorporation of whole-genome sequencing into clinical care that will inform policy decisions to improve health outcomes and research.

The committee also agreed on several recommendations to give to Sebelius concerning comparative-effectiveness research (CER).

After an effort led by Marc Williams, director of Intermountain Healthcare's Clinical Genetics Institute, the committee decided to advise HHS to direct the Office of the National Coordinator for Health Information Technology to explore options to implement genetic and genomic data into electronic health records (EHRs) and to provide resources to expand development of systematic, evidence-based recommendations. The committee also plans to suggest that further research will be necessary to inform the incorporation of genetics and genomics into health care.

The committee also yesterday drafted a set of recommendations for HHS concerning the unique issues related to sharing genomic data for research when the participants are from specific groups, particularly ethnic and indigenous groups.

This effort by was led by Charmaine Royal, an associate research professor at Duke University's Institute for Genome Sciences and Policy.

The committee agreed with Royal to advise the HHS Secretary of the need to consider cultural perspectives in the design of genomic studies, and of the need for greater incorporation of data that already exists on groups that have participated in genomics research. The committee suggested that institutional review boards or other bodies could address such issues, including the potential harms and benefits of genomics data on certain groups. HHS also may look into existing policies in the US for their effectiveness or adequacy, and may consider similar policies in other countries as potential models or to inform US policy.

SACGHS also finalized recommendations that it will send to the secretary in its report, "Genetics Education and Training of Health Care Professionals, Public Health Providers, and Consumers," the result of a multi-year effort headed by Barbara Burns McGrath, a research associate professor at the University of Washington School of Nursing.

The report argues that innovative approaches are needed to coordinate the efforts and entities involved in educating and training health professionals, and that a task force should be started to help guide that coordination, to set guidelines, and to review best practices and standards.

The aim of the task force would be to develop ways to ensure the incorporation of up-to-date genetic knowledge into standards and EHRs, and into certification, accreditation, and continuing education activities.

The public health workforce also should be assessed to identify who provides genetics education, and HHS should identify and engage good public health programs, as well as fund development and implementation of accessible education programs and continuing education efforts in genetics and genomics, the report advises.

The report also recommends that HHS should pursue ways to address genetics education among consumers and in underserved communities, and that it should collaborate with the Department of Education and the National Science Foundation to support genetics and genomics education in children and young adults.

HHS also should start an internet portal with trustworthy genomics information, SACGHS recommends.

The report also proposes that HHS develop ways to support and validate family history tools for use in risk assessment and health promotion, and it will suggest that HHS follow up on all of these education-related activities in five years.

All of these recommendations, suggestions, and the report are expected to be sent to the HHS Secretary in the coming weeks and months.