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ELSI Program Activities

NIH-DOE ELSI Working Group Task Force on Genetics and Insurance (ITF)
Project Date: May 1991 to May 1993

  • NIH-DOE Working Group on Ethical, Legal, and Social Implications of Human Genome Research, Genetic Information and Health Insurance: Report of the Task Force on Genetic Information and Insurance. May 1993: NIH Publication No. 93-3686.

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.)

  • Li, F.P., J.E. Garber, S.H. Friend et al. "Recommendations on Predictive Testing for Germ Line p53 Mutations Among Cancer-Prone Individuals." Journal of the National Cancer Institute. August 5, 1992; 84(15): 1156-1160.

NIH Cystic Fibrosis Studies Consortium (CFSC) and Consensus Development Conference
Project Start Date: 9/30/91. Conference Date: April 14-16, 1997.

Reproductive Genetic Testing: Impact on Women
Conference held November 21-23, 1991, NIH campus, Bethesda, Maryland.

  • Thomson, E., K. Rothenberg et al. "NIH Workshop Statement: Reproductive Genetic Testing: Impact on Women." American Journal of Human Genetics. November 1992; 51: 1161-1163.
  • Evans, M., K. Rothenberg and E. Thomson, eds. "Reproductive Genetic Testing: Impact Upon Women." Fetal Diagnosis and Therapy. April 1993: 8(supplement).
  • Rothenberg, K. and E. Thompson. Women and Prenatal Testing: Facing the Challenges of Genetic Technology. Columbus, Ohio: Ohio State University Press, 1994.

Human Subjects in Genetics Research Involving Families: Points to Consider
Conference held in 1992 on the NIH Campus in Bethesda, Maryland. 
(Co-Sponsored by OPRR and NIMH)

  • Human Genetic Research. OPRR 1993 Protecting Human Research Subjects Institutional Review Board Guidebook. 1993: Chapter 5 (Section H); 42-63.

NCHGR/CDC Informed Consent for Genetics Research Using Stored Tissue Samples
Meeting held July 7 and 8, 1994 on the NIH campus in Bethesda, Maryland. 
(Co-sponsored by CDC)

  • Clayton, E.W., K.K. Steinberg, M.J. Khoury et al. "Informed Consent for Genetic Research on Stored Tissue Samples." JAMA. December 13, 1995; 274(22): 1786-1792.

NIH Cancer Genetic Studies Consortium (CGSC)
Project Start Date: 9/30/94

  • Burke, W., G. Petersen, P. Lynch et al. "Recommendations for Follow-up Care of Individuals With an Inherited Predisposition to Cancer: II. BRCA1 and BRCA2." JAMA, March 26, 1997; 277(12): 997-1003.
  • Wilfond, B., K. Rothenberg, E. Thomson and C. Lerman "Ethical and Health Policy Issues in Cancer Genetic Testing." The Journal of Law, Medicine and Ethics. 1997; 25: 243-51.
  • Bowen, D.J., A. Farkas and S.W. Vernon. "Psychosocial Issues in Cancer Genetics: From the Laboratory to the Public." 326-328.
  • Glanz, K., J. Grove, C. Lerman et al. "Correlates of Intentions to Obtain Genetic Counseling and Colorectal Cancer Gene Testing Among At-Risk Relatives from Three Ethnic Groups." 329-336.
  • Petersen, G.M., E. Larkin, A.M. Codori et al. "Attitudes toward Colon Cancer Gene Testing: Survey of Relatives of Colon Cancer Patients." 337-344.
  • Codori, A.M., G.M. Petersen, D.L. Miglioretti et al. "Attitudes toward Cancer Gene Testing: Factors Predicting Test Uptake." 345-351.
  • Geller, G., T. Doksum, B.A. Bernhardt and S.A. Metz. "Participation in Breast Cancer Susceptibility Testing Protocols: Influence of Recruitment Source, Altruism, and Family Involvement on Women's Decisions." 377-383.
  • Daly, M., J. Farmer, C. Harrop-Stein et al. "Exploring Family Relationships in Cancer Risk Counseling Using the Genogram." 393-398.
  • Durfy, S.J, D.J. Bowen, A. McTiernan et al. "Attitudes and Interest in Genetic Testing for Breast and Ovarian Cancer Susceptibility in Diverse Groups of Women in Western Washington." 369-375.
  • Smith, K.R., J.A. West, R.T. Croyle and J.R. Botkin. "Familial Context of Genetic Testing for Cancer Susceptibility: Moderating Effect of Siblings' Test Results on Psychological Distress One to Two Weeks after BRCA1 Mutation Testing. 385-392.
  • Burke, W., G. Petersen, P. Lynch et al. "Recommendations for Follow-up Care of Individuals With an Inherited Predisposition to Cancer: I. Hereditary NonPolyposis Colon Cancer." JAMA, March 19, 1997; 277(11): 915-919.
  • Geller, G., J.R. Botkin, M.J. Green et al. "Genetic Testing for Susceptibility to Adult-Onset Cancer: The Process and Content of Informed Consent." JAMA, May 14, 1997; 277(18): 1467-1474.

Impact of Genetic Counseling and Testing for Breast Cancer 
Funded by the American Cancer Society grant # PBR-97 (Member of CGSC)
Project period: 1995-1998
The overall goals of these studies are to demonstrate the psychological effects of genetic counseling for women with a family history of breast cancer and the additional psychological impact of genetic testing as it is introduced into clinical counseling approaches.

  • Offit, K. Clinical Cancer Genetics: Risk Counseling & Management. New York: Wiley-Liss, Inc., 1998. 419p.

NIH-DOE ELSI Working Group Task Force on Genetic Testing
Project Start Date: April 1995

  • Holtzman N.A., P.D. Murphy, M.S. Watson and P.A. Barr. "Predictive genetic testing: From basic research to clinical practice." Science. 1997; 278: 602-605.
  • NIH-DOE Working Group on Ethical, Legal, and Social Implications of Human Genome Research, Promoting Safe and Effective Genetic Testing in the United States: Final Report of the Task Force on Genetic Testing. eds. N.S. Holtzman and M.S. Watson. September 1997.
  • Cho, M.K., M. Arruda, and N.A. Holtzman. "Educational material about genetic tests: Does it provide key information for patients and practitioners?" American Journal of Medical Genetics. 1997; 73: 314-320.

NIH-DOE ELSI Working Group and National Action Plan on Breast Cancer Workshop on Genetic Discrimination and Health Insurance
Meeting was held July 19, 1995 on the NIH Campus in Bethesda, Maryland

  • Hudson, K.L., K.H. Rothenberg, L.B. Andrews et al. "Genetic Discrimination and Health Insurance: An Urgent Need for Reform." Science. October 1995; 270: 391-393.
  • Rothenberg, K.H. "Genetic Information and Health Insurance: State Legislative Approaches." Journal of Law, Medicine & Ethics. 1995; 23: 312-319.

Informed Consent in Research Involving Human Participants Request for Applications and Research Consortium
September, 1996 (Trans-Agency Initiative)

  • IRB: Ethics & Human Research Supplement. September-October 2003; 25(5).
    • Siminoff L.A. "Toward Improving the Informed Consent Process in Research with Humans." pp. s1-s3.
    • Sachs G.A., Hougham G.W., Sugarman J. et al. "Conducting Empirical Research on Informed Consent: Challenges and Questions." pp. s4-s10.
    • Agre P., Campbell F.A., Goldman B.D. et al. "Improving Informed Consent: The Medium Is Not the Message." pp. s11- s19.
    • Broome M.E., Kodish E., Geller G., Siminoff L.A. et al. "Children in Research: New Perspectives for Informed Consent." pp. s20-s25.
    • Hougham G.W., Sachs G.A., Danner D. et al. "Empirical Research on Informed Consent with the Cognitively Impaired." pp. s26-s32.

NIH-DOE ELSI Working Group and National Action Plan on Breast Cancer Workshop on Genetic Discrimination and the Workplace: Implications for Employment, Insurance and Privacy 
Meeting was held October 4, 1996 in Bethesda, Maryland

  • Rothenberg, K.H., B. Fuller, M. Rothstein et al. "Genetic Information and the Workplace: Legislative Approaches and Policy Challenges." Science. March 21, 1997; 275: 1755-1757.

National Human Genome Research Institute and National Action Plan on Breast Cancer Workshop on Privacy and Confidentiality in Genetics Research
Meeting was held September 16-17, 1997 in Bethesda, Maryland

  • Fuller, B.P., M.J. Ellis Kahn, P.A. Barr et al. "Privacy in Genetics Research." Science. 27 August 1999; 285: 1359-1361.

"National Coalition for Health Professional Education in Genetics" 

  • Collins, F.S. "Preparing Health Professionals for the Genetic Revolution." JAMA. (Editorial) October 1997; 278(15): 1285-1286.

Followup Workshop to the Consensus Development Conference on Genetic Testing for CF
October 15-16, 1997

  • Mennuti, M.T., E. Thomson and N. Press. "Screening for Cystic Fibrosis Carrier State." Obstetrics & Gynecology. March 1999; 93(3): 456-461.
  • Grody W.W., Cutting G.R., Klinger K.W. et al. "Laboratory Standards and Guidelines for Population-based Cystic Fibrosis Carrier Screening." Genetics in Medicine. March/April 2001; 3(2): 149-154.
  • Lerman, C., C. Hughes, J.L. Benkendorf et al. "Racial Differences in Testing Motivation and Psychological Distress following Pretest Education for BRCA1 Gene Testing." 361-367.
  • Vernon, S.W., D.J. Bowen and A.F. Patenaude (eds.) "Psychosocial Aspects of Cancer Genetic Testing: Findings from the Cancer Genetics Studies Consortium." Cancer Epidemiology, Biomarkers & Prevention Special Issue. April 1999; 8(4). [Pubmed]
  • Vernon, S.W., E.R. Gritz, S.K. Peterson et al. "Intention to Learn Results of Genetic Testing for Hereditary Colon Cancer." 353-360.
  • Burke W., Emery J. "Science and society - Genetics education for primary-care providers." Nat Rev Genet. 3(7): 561-566 July 2002.
  • Grody W.W., Desnick R.J. [Editorial] "Cystic Fibrosis Population Carrier Screening: Here at Last Are We Ready?" Genetics in Medicine. March/April 2001; 3(2): 87-90.

Hereditary Hemochromatosis: Gene Discovery and Policy Meeting

  • Burke, W., E. Thomson, M.J. Khoury et al. "Hereditary Hemochromatosis: Gene Discovery and Its Implications for Population-Based Screening." JAMA. 1998; 280: 172-178.

Bioethics Education Materials and Resources Subcommittee (BEMARS) 

Informed Consent in Human Subjects Research

  • Proceedings: Conference on Informed Consent in Human Subjects Research. Cookeville, Tennessee: Tennessee Technological University, Spring 2000.

Genetic Medicine-Primary Care Faculty Development Program

  • Culver J.O., Hull J.L., Dunne D.F.B., et al. "Oncologists' opinions on genetic testing for breast and ovarian cancer." Genet Med. 3(2): 120-125 March-April 2001.
  • Pinsky L.E., Culver J.B., Hull J., et al. "Why should primary care physicians know about breast cancer genetics?" Western J Med175(3): 168-173 September 2001.
  • Pinsky L., Pagon R., Burke W. "Genetics through a primary care lens." Western J Med. 175(1): 47-50 July 2001.
  • Evans J.P., Skrzynia C., Burke W. "The complexities of predictive genetic testing." Brit Med J 322 (7293): 1052-1056 April 28, 2001.
  • Bates B.R., Templeton A., Achter P.J., et al. "What does "a gene for heart disease" mean? A focus group study of public understandings of genetic risk factors." Am J Med Genet. A 119A(2): 156-161 June 1, 2003.

Request for Proposals to Study Iron Overload and Hereditary Hemochromatosis

  • Mclaren C.E., Barton J.C., Adams P.C., et al. "Hemochromatosis and Iron Overload Screening (HEIRS) Study Design for an Evaluation of 100,000 Primary Care-Based Adults." The American Journal of The Medical Sciences. February 2003; 325(2): 53-62. [PubMed]
  • Anderson R.T., Press N.A., Tucker D.C. et al. "Patient acceptability of genotypic testing for hemochromatosis in primary care."quot;Genetics IN Medicine. October 2005; 7(8): 557-563. [PubMed]

Last updated: August 08, 2019