Human Genome Project Information Archive
1990–2003

ELSI Grantees Address Accelerated Societal Impact of Genome Data

Rapid worldwide progress in human genome sequencing has heightened the urgency of addressing the many complex ethical, legal, and social issues (ELSI) surrounding genetic data. Some topics presented at the Santa Fe workshop are summarized below.

Testing, Managed Care, and Confidentiality
Jeroo Kotval (University of Albany) spoke about the threat to patient welfare and confidentiality created by the confluence of three elements: DNA-based testing, the rise of market-driven managed-care organizations (MCOs), and the availability of the medical record on networked computers. Confidentiality of DNA-based tests provides new and heightened concerns because some of these tests can predict future healthcare costs and also implicate relatives. Such information handlers as secretaries and data-entry clerks are not licensed professionals and, therefore, not bound by medical confidentiality laws in most states, she pointed out.

Central to confidentiality concerns in the MCO setting, Kotval suggested, is the practice of utilization review, which tracks each physician's referral and test-ordering practices and sometimes even treatment protocols. She observed that the MCO setting presents some unique ethical dilemmas because physicians and other personnel are MCO employees or contractors and because payor and provider functions are contained within the same entity. Physicians, no longer free agents, may be caught between competing MCO and patient interests.

She suggested that traditional concepts of interpersonal morality with regard to confidentiality may not apply to institutional decisions because institutions are not moral beings. Organizational decisions are made for the institution's good, and values implied by such decisions may differ from those held by individuals in their personal lives.

DNA-based predictive tests for adult-onset disorders or predispositions may, therefore, be used by insurance companies to discriminate in the interest of cutting costs. Kotval emphasized that cost-tracking is not restricted to for-profit, market-driven managed care.

Kotval's group seeks to (1) understand the context in which DNA-based tests will be used by MCOs, (2) identify policy gaps that could allow misuse of confidential medical information, and (3) make practical recommendations to remediate these gaps. She stressed that genetic information increasingly will be an inseparable part of the medical record. If individuals are to avail themselves of the benefits of genetic testing, however, they must be assured that the medical record is confidential.

"In the popular imagination," she said, "one's genetic makeup is perceived as fundamental and integral to the self, revealing something deep, basic, and even final about a person, adding to [the genetic data's] sensitivity and raising concerns about its possible misuse. Our genes are fraught with both personal and cultural significance."

Anguish of Genetic Testing
Gene testing's profound challenges to a person's sense of self, family, and future were well illustrated in A Question of Genes, last fall's 2-hour nationally televised Public Broadcasting Service special sponsored by the DOE Human Genome Program and SmithKline Beecham. At the Santa Fe meeting, producer and director Noel Schwerin (NoelEye Documentaries) presented a short excerpt. The program follows the lives of several individuals and families as they confront genetic testing for such conditions as heart disease, Alzheimer's disease, breast cancer, and cystic fibrosis. The decisions and dilemmas of a range of personalities and perspectives are explored, including those of the sole survivor of four sisters who experiences tremendous guilt on learning that she does not harbor the gene mutation associated with a rare inherited form of breast cancer. [A print copy of the free educators' guide can be ordered from 800/991-1441 or through the extensive Web site (http://www.pbs.org/gene), which contains numerous additional resources for teachers. Discussion guides to accompany the video can be downloaded from the Web [http://www.pbs.org/gene/educator/41_discussion.html.] [http://www.backbonemedia.org/genes/]

Mental Retardation Organization Viewpoint
Sharon Davis represented The Arc, a national organization of 140,000 members concerned with the welfare of people with mental retardation and their families. The Arc, funded by the DOE ELSI program to increase awareness of the Human Genome Project, is examining critical issues related to new genetic discoveries. More than 750 genetic disorders have been identified as causing mental retardation; two of the most common are Down's and Fragile X syndromes.

In discussing the future possibility of gene-based cures, Davis noted that most of The Arc's workshop participants support increased funding for research to cure mental retardation and that this does not devalue those already affected. Davis emphasized the need for education to (1) promote widespread discussion before policy is enacted to govern the use of future technologies and (2) allow informed personal choices regarding testing and participation in research. She concluded her presentation by reminding the audience that "the potential for cure for some must not make us less accepting of those living with the condition." (See PDF for the full text of Davis's talk.)

Physician Education
Transitional periods can be uncomfortable, noted Sara Tobin (Stanford University) as she described the current context in which genetic advances are emerging: changes in the healthcare system; marketing pressures; uneven distribution of genetic resources, especially of genetic counselors; limited public understanding; and inadequate training of physicians in the "new genetics." A study published last year in the New England Journal of Medicine reported that most physicians who ordered a particular DNA-based test did not obtain prior informed consent--and that one-third interpreted the results incorrectly to their patients.

Tobin is developing an interactive CD-ROM course to aid physicians who have had little or no training in clinical applications of molecular genetics. This course, "The New Genetics: Courseware for Physicians; Molecular Concepts, Applications, and Ramifications," will provide continuing medical education credits for practicing physicians in basic genetics, molecular techniques, clinical applications, and ELSI. Probable release date is spring 1999. (http://scbe.stanford.edu/education/)

The electronic form of the newsletter may be cited in the following style:
Human Genome Program, U.S. Department of Energy, Human Genome News (v9n3).