Barr, P. A.

Biesecker, L.

Collins, Francis

Crowley, E.

Ellis Kahn, Mary Jo

Fuller, Barbara

Garber, J.

Hudson, Kathy

Mansoura, M. K.

Murphy, Patricia

Murray, J.

Phillips, J.

Rothenberg, Karen H.

Rothstein, Mark

Stopfer, J.

Swergold, Gary

Weber, B.

Digital Commons @ UM Law

POLICY FORUM: ETHICS Privacy in Genetics Research stringent regulations to protect experimen-tal research data from third-party access. (Recommendation 1.) Unlike clinically validated medical in-formation obtained for patient care, exper-imental research data often lack analytical and clinical validity. This means that re-search data may be clinicaily meaningless or misleading. Research studies to identify the genetic basis of a specific disease may generate very preliminary, inconclusive, or invalid experimental information linking a genetic alteration with risk of developing the disease. Unless a research protocol in-cludes the clinical care of the research par-ticipant, experimental research data should be kept in the researcher's scientific files and not placed in the participant's medical record (11). (Recommendation 2.) B.. P. Fuller,* M. j. Ellis Kahn, P. A. Barr, L Biesecker, E. Crowley, j. Garber, M. K. Mansoura, P. Murphy, j. Murray, J. Phillips, K. Rothenberg, M. Rothstein, J. Stopfer, G. Swergold, B. Weber, F. S. Collins, K. L Hudson Rapid progress in the Human Genome Project has heightened public aware-ness of the positive impact of genet-ics research on human health. Along with these positive effects have come concerns about who will have access to personal ge-netic information and how it will be used. Here, we present policy recommendations (see the table) for protecting the privacy of genetic information in research (1). A particular person's genetic informa-tion may be of interest to a wide variety of individuals and organizations. Insurers Send us your reactions to this article via Science's dEbates onUne http://www.sciencemag.org/ cgi/contentlsurnrnary/ 285/5432/1359 and employers may want to use it as a predictor of future illness, health-care costs, or the ability to perform a job. Family members, educational institutions, or the courts (in cases where custody is being challenged, for example) may also want access to ge-netic information. Indeed, genetic infor-mation has already been used to deny medical benefits to retirees with illnesses with a known genetic basis (2). Cases of insurance and employment discrimination based on genetic information have also been reported (3). Recommendations to restrict use of ge-netic information in health insurance and in the workplace have been developed by the National Action Plan on Breast Cancer (NAPBC) and the National Human Genome Research Institute (NHGRI) ( 4). State and federal laws restrict some uses of genetic in-formation in health insurance and the work-place (5. 6). Nevertheless, comprehensive federal protections are not in place (7). The privacy of medical information is protected principally by state law, although the level of protection varies widely from state to state. These laws· generally restrict access to health-care records to those with signed authorizations or a court order, or in other limited circumstances. The Federal Privacy Act of 1974 safe-guards health, research, and other records held by federal agencies. Nevertheless, The authors are members of the Privacy Workshop Planning Subcommittee of the National Action Plan on Breast Cancer (NAPBC). *To whom correspondence should be addressed. E-mail: barbaraf@exchange.nih.gov there are many instances in which disclo-sures without the consent of the individual are allowable. Other than federal statutes to protect research specific to crimes, health-care outcomes, or medical liability, there are no comprehensive federal laws to pro-tect the privacy of research information (8). Currently, the U.S. Congress is consid-ering measures to protect the privacy and confidentiality of individually identifiable health information (9). Pending legislation addresses the responsibilities of individu-als and organizations who maintain health information, describes who can have ac-cess to individual medical records, and outlines the process for obtaining access. Of concern to the scientific community is the danger that experimental research records might be included inappropriately in the broad definitions of individually identifiable health information (1 0). Al-though it may seem paradoxical, inclusion of these records could allow unnecessary and inappropriate third-party access to this information (such as by law enforcement officials or courts). The social value of re-search, the altruistic nature of research participation, and the reliance of the re-search enterprise on volunteers necessitate Individuals who participate in research are protected by the Common Rule (12), which requires that all research with hu-man subjects that is supported, conducted, or regulated by federal agencies must be reviewed by an institutional review board (IRB). IRBs are responsible for ensuring that the participants' consent is informed and voluntary, that risks to the participants are minimized, and that the participants' rights and welfare are protected. IRBs also consider whether the proposed informed consent document includes "a statement describing the extent, if any, to which con-fidentiality of records identifying the sub-ject will be maintained" (13). The IRB guidebook recommends that data should not be released except as authorized by the research subject and that subsequent re-. ·. RECOMMENDATIONSTOPROTECTPRlVACY:JN GENETICS RESEARCH ~::: _. 1 ~Privacy protections for experimental research data, iriwhich health car~ is not.delivered . should exceed the protections estabtfshedformedical records; Rilles for third~ party ac~ .. cess ta medical records should iwt be · ..... ~~~~P.~~T:~~':l.~~~:.~.~~~.~~~~· ind!ivh:IUelllV ide:f:ltifialble experimental research data not --·-- - --·---"_~~~,--~~--" ~·· . www.sciencemag.org SCIENCE VOL285 27 AUGUST 1999 1359 quests for information should be subject to the agreements in the informed consent (14). However, current practices are di-verse, and there are no specific mandates or requirements for even the most basic levels of privacy and confidentiality pro-tections. (Recommendation 3.) The public focus has been on privacy of information acquired in the clinical setting (15); privacy of experimental research data has received comparably little attention. There has been no systematic analysis of methodologies used to protect privacy of research records or of breaches of confi-dentiality. An assessment of current prac-tices and development of best practices to protect research data from third-party ac-cess is needed. (Recommendation 4.) As early as 1977, the Federal Privacy SCIENCE'S COMPASS ically meaningless or misleading, thus lacking the clinical and analytical validity of medical records (21). In a specific case, 5209 people were re-cruited to participate in a longitudinal study of factors that contribute to cardiovascular disease (22). Subsequently, the study en-rolled another 5124 adult children and spouses of the original group. The subjects gave permission for genetic studies, the col-lection of medical histories, and physical examinations. Tests were performed in a re-search laboratory that can tolerate a l to 2% error rate that would not be tolerated in a clinical laboratory because the study was evaluating the significance of genetic vari-ants among thousands of persons, not the relevance to one individual. Concern about sample Protection Study Com-mission strongly favored "statutory immunity which protects the rights and in-terests of the individual" research participant (16). The Public Health Service Act provides for Certifi-cates of Confidentiality (17) that protect personal-ly identifiable research in-formation. These certifi-cates can be obtained by privately funded as well as federally funded re-search projects of a sensi-tive nature, including pro-jects involving informa-tion that "could reason-ably lead to social stigma-tization or discrimination" (18). They provide a legal defense for researchers against compelled disclo-"Experime~ research data integrity as well as ana-lytical and clinical validi-ty of medical tests pro-vides the basis for a fed-eral law (CLIA) that re-quires laboratories pro-viding data back to pa-tients to meet a number of quality standards (23). Many research laborato-ries are not CLIA ap-proved. Consequently, there is concern that transmitting the outcome of these studies to the re-search participants would result in the transmission of false-positive or false-negative results. should be kept in the researcher's scientific files and not placed in the participant's I medical record." Providing such data to subjects may entail sig-nificant risks and cause erroneous conclusions to be made that could result sure of identifiable research information as a result of a subpoena or court order (19) and can be a critical device for the protec-tion of genetic research data (20). Howev-er, they do not provide legal protection for research participants from compelled dis-closure. (Recommendation 5.) It is universally accepted that individu-als should have access to their own medi-cal information. At first examination, it seems straightforward to conclude that this should apply to experimental research da-ta. There are several key characteristics, however, that differentiate medical infor-mation from experimental research data. Unlike medical records, research records contain experimental data and analyses necessary to test hypotheses. The clinical significance of the results of a particular experiment may only be established after many years of additional research, if ever. This means that research data may be clin-in physical, psychosocial, or economic harms. If genetic research results are to be given to the subjects, the protocol must provide for counseling before and after the test (24). For a study with about l 0,000 participants, the cost of counseling is esti-mated to be more than $500,000 per year. Although this cost is warranted in studies that generate data useful to individual par-ticipants, in the case described above the expenditure may be unwarranted. If a poli-cy mandating return of clinically meaning-less data were implemented, associated costs and personnel might provide an ob-stacle to doing the study. Thus, in the ab-sence of clinical validity there should not be an absolute requirement for data to be returned to subjects. For research in which data are not provided to subjects, the re-searcher should demonstrate absence of clinical validity, an IRB should be required to review and approve the exception, and the informed consent document should state explicitly that the data will not be re-turned to the research subject. (Recom-mendation 6.) Implementation of our recommend-ations is imperative to maintain the trust placed in the research process and to real-ize the potential of genetics research to benefit human health. References and Notes 1. The NAPBC is a public-private partnership designed to stimulate progress in eradicating breast cancer by advancing knowledge. research, policy, and services. 2. Department of Defense Directive 1332. 3. LN. Geller et aL. Science Eng. Ethics 2, 71 (1996). 4. See K. L Hudson, K. H. Rothenberg, L B. Andrews. M. j. Ellis Kahn, F. S. Collins, et al .. Science 270, 391 (1995); K. Rothenberg et al.. ibid. 275, 1755 (1997); D. $halala, "Report of the Secretary to the President: Health insurance in the age of genetics" Uuly 1997); Department of Labor et aL, "Genetic Information and the Workplace" (20 january 1998). 5. For a listing of relevant state legislation, see http://www.sciencemag.org 6. Health Insurance Portability and Accountability Act, 104 Public Law No. 104-191,701, 110 Stat 1936 (1996); 42 U.S. Code Annotated (U.S.C.A.) § 12101, et seq.; Equal Employment Opportunity Commission, Compliance Manual, Section 902, 15 March 1995. 7. See H.R. 293, 106th Cong., 1st Sess. {1999); H.R. 2457, 106th Cong., 1st Sess. (1999); H.R. 2555, 106th Cong .• 1st Sess. (1999); S. 543, 106th Cong .• 1st Sess. {1999); S. 1322, 106th Cong., 1st Sess. {1999); S. 1344 (Title II), 106th Cong., 1st Sess. (1999). 8. 42 U.S.C.A. § 3789g(a); 42 U.S.C.A. § 299. 9. See H.R. 1057, 106th Cong., 1st Sess. (1999); H.R. 1941, 106th Cong., 1st Sess. (2999); H.R. 2404, 106th Cong. 1st Sess. (1999) H.R. 2470. 106th Cong. 1st Sess (1999); S. 573, 106th Cong, 1st Sess. (1999); S. 578, 106th Cong., 1st Sess. {1999); and S. 881, 106th Cong., 1st Sess. (1999). 10. SeeS. 578, 106th Cong., 1st Sess. {1999) for a formal definition of protected health information. 11. See Mayo Clinic, "Institutional Review Board policy regarding genetic research", 5 May 1998. 12. 56 Federal Register, 18 june 1999; 45 Code of Federal Regulations {CFR) 46. 13. 45CFR46.116(a)(5). 14. Office for Protection from Research Risks, Protecting Human Research Subjects: Institutional Review Board Guidebook, pp. 3-27 (1993). 15. R. O'Harrow Jr., Washington Post, 27 September 1998, p. A 1. See also United States General Account-ing Office, "tledical records privacy: Access needed for health research but oversight of privacy protec-tions is limited" (February 1999). 16. Privacy Protection Study Commission, Personal Priva-cy in an Information Society, p. 579 (1977). 17. Public Health Service Act§ 301 (d). 18. Health and Human Services, "Interim Policy State-ment: Protection of Identity-Research Subjects (5-22-89)". 19. L 0. Gostin, Cornell L Rev. 80,451 (1995). 20. C. L. Earley and L C. Strong, Am. }. Hum. Genet 57, 727 (1995). 21. The National Institutes of Health (NIH)/Department of Energy Task Force on Genetic Testing, Promoting Safe and Effective Genetic Testing in the United States (1997). 22. National Heart, Lung, and Blood Institute, Framing-ham home page. http://www.nhlbi.nih.gov/about/ framingham/index.html (1998). 23. The Clinical Laboratory Improvement Amendments of 198B. Public Law 100-578 {1988). 24. L. B. Andrews et al., Eds. Assessing Genetic Risks: Im-plications for Health and Social Policy {Institute of Medicine, National Academy Press, Washington, DC, 1994). 25. The views expressed are those of the Privacy Workshop Planning Subcommittee of the NAPBC. No official en-dorsement by the NIH or the Department of Health and Human Services is intended or should be inferred. www.sciencemag.org SCIENCE VOL 285 27 AUGUST 1999 1361 

Privacy in Genetics Research

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Privacy in Genetics Research

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