NIH Cystic Fibrosis Studies Consortium (CFSC)
Project Start Date: 9/30/91 (Co-funded with NICHD and NINR)

Eight studies were funded from applications submitted to the NIH Request for Applications (RFA) entitled "Studies of Testing and Counseling for Cystic Fibrosis Mutations." The NCHGR, the National Institute of Child Health and Human Development (NICHD), and the National Institute of Nursing Research (NINR) launched a three year research initiative to define the best methods for educating and counseling individuals who want to be tested for CF mutations. The NCHGR took the lead role in supporting these studies. Seven research teams across the country conducted eight studies to determine the appropriateness of population screening for CF carriers. In order facilitate communication among research teams, share materials, and discuss issues such as quality control and informed consent, investigators met regularly as a consortium. Investigators in the Consortium are: David ASCH, Joanna FANOS, Wayne GRODY, Neil HOLTZMAN, John PHILLIPS, Peter ROWLEY, and James SORENSON.

In April 1997, an NIH Consensus Conference on Genetic Testing for Cystic Fibrosis was held to examine the implications of the consortium's research findings. After two and a half days of scientific presentations and deliberations, the independent, non-Government consensus panel issued a consensus statement concerning the appropriate use of genetic testing for cystic fibrosis.

NIHCancer Genetic Studies Consortium(CGSC)
Project Start Date: 9/30/94 (Co-funded with NCI, NINR, NIMH)

Eleven research projects were funded in response to the NIH RFA titled, "Studies of Genetic Testing and Counseling for Heritable Breast, Ovarian and Colon Cancer Risks." The NCHGR, the National Cancer Institute (NCI), the National Institute of Nursing Research (NINR), and the National Institute of Mental Health (NIMH) are funding these three-year grants to address the ethical, legal and social issues raised by the use of DNA testing for cancer susceptibility. The researchers will benefit from the consortium format because it will allow them to compare findings on issues common to all the projects, it will reduce duplication of effort and promote sharing of information about informed consent issues and quality assurance of the DNA tests. Principle Investigators in the consortium are: Barbara Bowles BIESECKER, Deborah BOWEN, Jeffrey BOTKIN, Wylie BURKE, Mary B. DALY, Bonnie FLICK, Judy GARBER, Gail GELLER, Karen GLANZ, Ellen GRITZ, Don HADLEY, Caryn LERMAN, Kenneth OFFIT, Gloria PETERSEN, and Kathryn TAYLOR.



"NIH-DOE ELSI Working Group Task Force on Genetic Testing"
Project Date: April 1995 - 1997 (Co-sponsored with DOE)

In follow up to the Institute of Medicine study and in response to an identified need for further guidance in the area of genetic testing, the ELSI Working Group has formed a Task Force on Genetic Testing. The Task Force is charged with examining the current state of genetic testing in the U.S. and if needed, to make recommendations to ensure the development and delivery of safe and effective genetic tests. This Task Force is specifically examining the scientific validation of new genetic tests; laboratory quality assurance; and education, counseling, and delivery of genetic tests. It has participation from several federal agencies including the FDA and HCFA, professional societies, the private biotechnology industry, insurers and consumers. The Task Force's final report was published in September 1997.

Followup Workshop to the Consensus Development Conference on Genetic Testing for CF
October 15-16, 1997, Bethesda, Maryland (Co-sponsored with NIH ORD, AHCPR, CDC)

To explore the issues involved in the appropriate implementation of the recommendations issued as a result of the Consensus Development Conference, the NHGRI, the NIH ORD, AHCPR and CDC, in collaboration with a number of other NIH institutes and health professional organizations, held a workshop October 15-16, 1997 in Bethesda, Maryland. Outcomes of this meeting included: 1) agreement that research indicates there is interest in some populations in having access to genetic testing for CF; 2) a strong recommendation that the interdisciplinary professional and consumer groups represented at the meeting continue to work together to provide further clarification about protocols for CF genetic testing; 3) formation of a group to refine existing educational and informed consent materials; 4) a consensus of the meeting participants that an 18-36 month time line for further implementation is expected, therefore such testing is not considered to be the "standard of care" at this time. The ACOG and ACMG are currently working with the NHGRI to establish a steering committee with representation from a number of professional and consumer organizations. This committee will oversee the creation of three working groups to develop clinical, laboratory, and education practices and guidelines to support the implementation of the Consensus recommendations.

"Pre-symptomatic Testing for P53 Mutations"
Two conferences held May 8-9 and November 19, 1991 on the NIH Campus in Bethesda, Maryland. (Co-sponsored by NCI)

These two workshops were held to consider recommendations for p53 testing. The discussions focused on predictive testing. The participants were from diverse fields of study, including clinical medicine, laboratory science, epidemiology and biostatistics, medical ethics, law, psychology, and cancer control. Presentations and discussions covered several broad areas: Li-Fraumeni syndrome and its relationship to germ line p53 mutations, ethical considerations in predictive testing for germ line p53 mutations, patient selection and the status of laboratory techniques for testing, structure and components of pilot testing programs and opportunities for interventions and evaluation of the pilot testing activities. Recommendations were prepared by meeting participants to distill the consensus of the meetings. The recommendations were not voted upon and have no official status or authority. Rather, they are intended to call attention to an emerging issue and stimulate further discussion.

"Reproductive Genetic Testing: Impact on Women"
Conference held November 21-23, 1991, NIH campus, Bethesda, Maryland.
(Co-sponsored with NICHD, NINR and ORWH)

This meeting was co-sponsored by NCHGR, the National Institute of Nursing Research (NINR), the National Institute of Child Health and Human Development (NICHD) and the Office for Research on Women's Health (ORWH). It brought together individuals from a variety of backgrounds and disciplines to discuss the impact of developing reproductive genetic technologies on women, including psychosocial, ethnocultural, legal, ethical and public policy issues. During this meeting, the major gaps in knowledge and the immediate research needs and priorities were identified. The culmination of this meeting was the issuance of a Workshop Statement detailing several recommendations to be considered in the development of a future research agenda to evaluate reproductive genetic services.

Hereditary Hemochromatosis: Gene Discovery and Policy Meeting
The Meeting was held March 3, 1997 at the Centers for Disease Control and Prevention in Atlanta, Georgia
(Co-sponsored with CDC)

A workshop, co-sponsored by the CDC and NHGRI, was held on March 3, 1997 to examine the clinical, ethical, legal and social implications of discovery of the gene for hereditary hemochromatosis and the possibility of widespread population-based testing for the disease. The recommendations and conclusions resulting from this workshop include: 1) current clinical, epidemiological and genetic data suggest that the relationship between HH genotype and iron overload is complex and many questions about etiology, molecular basis and clinical course of HH-associated iron overloading remain unresolved; 2) there is currently considerable uncertainty concerning the proportion of HH-affected individuals who carry the C282Y mutation, the penetrance of the H63D mutation, and the existence of other HH genes or mutations; 3) given the potential for psychological, social, and economic harm to affected individuals, the group concluded that, in the general population, genetic testing for HH currently offers no advantage over phenotypic testing and introduces unnecessary risk; 4) genetic testing may have a role in family studies, if the genotype of the affected family member is known, and may help to confirm the diagnosis in some individuals whose serum iron measure suggest HH; and 5) given these factors, the consensus of individuals attending the meeting was that genetic tests for HFE mutations should not be used in population screening at the present time.



"The First Annual Conference on Genetics & Public Health: Translating Advances in Human Genetics into Disease Prevention and Health Promotion."
May 13 - 15, 1998 in Atlanta, GA (Co-sponsored with CDC and HRSA)

This meeting was planned by the CDC in collaboration with HRSA, NHGRI, and other national and state public health organizations. The conference was designed to review public health opportunities and challenges in the use of genetic information and technologies that are rapidly becoming available through advances in human genetics research, and provide a forum for exchanging information and ideas among national and state public health agencies. The objectives of the conference are: to update public health practitioners on developments in human genetics which can be incorporated into public health policy and practice; to build partnerships between federal, state, academic and private organizations to address challenges and opportunities for integrating genetics into disease prevention and health promotion efforts; and to assess significant public health issues, including ethical, legal and social concerns, associated with the integration of genetics into public health practice. The target audience for the conference is state and community public health officials, maternal and child health leaders, preventive medicine and public health professionals, and public health educators.



"Focus Group Research on Public Perceptions and Opinions about Genetics Research and Public Health"
(Co-funded with CDC)

The Centers for Disease Control and Prevention (CDC), in consultation with its contractor (Westat) and NHGRI ELSI staff, held nine focus groups to examine how some members of the public perceive genetics research and what kind of informed consent process is needed in order for the public to be fully informed to consent to genetics research participation in public health settings. The information gathered will be used to inform participants at a future "Workshop on Informed Consent in Genetics and Public Health Research." The focus groups included a total of nine groups (three Hispanic, three African-American, and three Caucasian groups). The groups were held in Rockville, MD at Westat's facilities and were two hours long plus a 30 minute question and answer session. Westat provided moderators that match the race of the focus group. NHGRI's support specifically was sought so that an adequate number of focus groups, including minority groups could be held.