The Ethical, Legal, and Social Implications Research Program at the National Human Genome Research Institute.

Organizers of the Human Genome Project (HGP) understood from the beginning that the scientific activities of mapping and sequencing the human genome would raise ethical, legal, and social issues that would require careful attention by scientists, health care professionals, government officials, and the public. The establishment of the ELSI (ethical, legal, and social implications) programs at the National Human Genome Research Institute (NHGRI) and the Department of Energy (DOE) was thought to be vital to the success of the HGP in the United States. It also provided a novel approach to the simultaneous study of ethical, legal, and social issues and basic scientific issues. Eric Juengst, the first director of the ELSI program, described its origins in a previous issue of the Kennedy Institute of Ethics Journal (Juengst 1991). Now in its seventh year, the ELSI program has accomplished much. This article summarizes the evolution and goals of the ELSI program at NHGRI, outlines the program's current research priorities with examples of activities within each priority area, and provides a look to the future, including the initiation of a strategic planning process.

Creating a nursing vision for leadership in genetics.

Today, an increasing number of nurses are applying new genetic knowledge in their practice, research, and educational activities. Just as the evolving precepts of biology, psychology, sociology, medicine, public health, and economics are integral to the practice of quality patient care, so too are those of genomics. The International Society of Nurses in Genetics (ISONG) has taken up the challenge of educating nurses about genetics and about ways such knowledge might be integrated into practice.

African Americans at risk for increased iron stores or liver disease.

PURPOSE: We sought to determine the prevalence of elevated measures of iron status in African Americans and whether the combination of serum ferritin concentration >200 microg/L for women or >300 microg/L for men and transferrin saturation in the highest quartile represents increased likelihood of mutation of HFE, self-reported iron overload or self-reported liver disease. SUBJECTS AND METHODS: A cross-sectional observational study of 27,224 African Americans > or =25 years of age recruited in a primary care setting was conducted as part of the multi-center, multi-ethnic Hemochromatosis and Iron Overload Screening (HEIRS) Study. Measurements included serum ferritin concentration, transferrin saturation, testing for HFE C282Y and H63D, and self-reported iron overload and liver disease. RESULTS: Serum ferritin concentration >200 microg/L for women or >300 microg/L for men occurred in 5263 (19.3%) of African Americans, while serum ferritin concentration in this range with highest-quartile transferrin saturation (>29% women; >35% men) occurred in 1837 (6.7%). Adjusted odds of HFE mutation (1.76 women, 1.67 men), self-reported iron overload (1.97 women, 2.88 men), or self-reported liver disease (5.18 women, 3.73 men) were greater with elevated serum ferritin concentration and highest-quartile transferrin saturation than with nonelevated serum ferritin concentration (each P <.05). CONCLUSIONS: Serum ferritin concentration >200 microg/L for women or >300 microg/L for men in combination with transferrin saturation >29% for women or >35% for men occurs in approximately 7% of adult African American primary care patients. Patients with this combination of iron test results should be evaluated for increased body iron stores or liver disease.

Nursing leadership in genomics for health and society.

PURPOSE: This article is part of the series regarding genomics and nursing practice, science, education, and policy. Issues in genetic testing, genetic information and the lessons learned through applications of genetic and genomic science are analyzed and discussed. FRAMEWORK: Scientists, scholars, and members of the public have articulated a vision to guide genomics research and scholarship. The three overarching themes of this conceptual framework are genomes to biology, genomes to health, and genomes to society. CONCLUSIONS: Nurses can promote the use of genomic research technologies and information in the context of health, biology, and society, as well as in nursing research, practice, education, and policy.

Patient acceptability of genotypic testing for hemochromatosis in primary care.

PURPOSE: Genetic screening can enable timely detection and treatment of hereditary hemochromatosis (HH). Little is known about patient acceptability of DNA testing as compared to conventional phenotypic testing. METHODS: Within the HEIRS Study, a large primary-care screening study of HH and iron overload, we randomly assigned participants to receive brief information on either HH genotypic or phenotypic testing, and assessed the willingness to accept this test. The study was designed to recruit an equal number of African Americans and Caucasians. RESULTS: A total of 2500 participants were recruited from waiting rooms of primary care practices; 2165 participants who self-identified as African Americans and Caucasians were included in the analyses. Overall, 56% had accepted a genotypic test versus 58% for a phenotypic test. Adjusting for Field Center (FC), age, gender, race, educational attainment, global health rating, and knowledge of the test, the odds ratio of accepting a genotypic versus phenotypic test was 0.85 (95% CI: 0.71, 1.02; P = 0.078). Characteristics associated with test acceptance were age 45-64 years, female gender, Caucasian race, self-rated health less than ''very good'', and knowledge of the test. Test acceptance was associated with interest in knowing more about health (81%) and in helping family members (71%). Refusal reasons included a need to talk with a doctor (44%), concern about privacy (32%), and dislike of blood drawing (29%). CONCLUSION: In this diverse sample of primary care patients, stated acceptance of genotypic testing for HH mutations was similar to phenotypic testing for blood iron. Patient education regarding the nature of test, importance of disease detection, and privacy protection appear to be essential for achieving high rates of screening participation.

Concerns in a primary care population about genetic discrimination by insurers.

PURPOSE: Fear of genetic discrimination might deter participation in research or therapy. This is a major impetus for laws limiting insurers' use of genetic information, yet there is little information about the extent of this fear in the general population and how it varies by social factors. METHODS: This study measures concern about insurance problems relating to genetic testing, as part of primary-care screening for hereditary hemochromatosis (iron overload). Data come from a multiethnic, primary care-based survey of 86,859 adults in five field centers in the United States (AL, CA, DC, HI, OR), and one in Canada (Ontario). Logistic regression was used to model the probability of agreeing to the question "Genetic testing is not a good idea because you might have trouble getting or keeping your insurance." RESULTS: Overall, 40.0% of participants agreed. Adjusting for other characteristics, African Americans and Asians were much less likely (OR = 0.52 and 0.39), and Hispanics were more likely (OR = 1.124), than Caucasians to express concern about insurance discrimination. Participants under 65 years old, US residents, and those without a high school diploma were substantially more likely to be concerned (ORs ranging from 1.4-1.6), as were participants with lower mental health scores. Education showed a nonlinear relationship, with significantly higher concern among both those with less than a high school education and those with a college degree, compared to high school graduates. CONCLUSIONS: Concern about genetic discrimination varies substantially by race and other demographic factors and by nationality. One possible explanation for lower concern about Canadians and by people over 64 is that both groups are covered by social insurance for health care (Medicare). However, US residents in states with some legal protections against genetic discrimination had more, not less, concern than either Canadians or US residents in states with no legal protections.