Sponsored by the U.S. Department of Energy Human Genome Program
Human Genome News Archive Edition
Human Genome News, January 1994; 5(5)
The NIH Cystic Fibrosis Studies Consortium (CFSC) met September 8-9, 1993, in Washington, D.C., to review results of initial studies on testing and counseling for CF mutations. Four NIH components National Center for Human Genome Research (NCHGR), National Institute of Child Health and Human Development, National Institute of Diabetes and Digestive and Kidney Diseases, and National Center for Nursing Research are sponsoring the 3-year research project to examine complex issues surrounding possible widespread testing for CF mutations [see HGN 3(5), 1-2 (January 1992)].The project is coordinated by NCHGR.
Meeting participants concluded that, although study results are not definitive, a number of themes are emerging that have implications for professional and public policies on CF. Highlights of the discussions follow.
Knowledge and Understanding
Public knowledge about CF is generally poor and varies according to such factors as the individual's education, socioeconomic status, ethnicity, and gender. Various education strategies have been shown to increase knowledge, at least temporarily, and to reduce the influence of these factors. A number of barriers to education were identified, including provider reluctance to discuss test implications and lack of access to educational electronic media such as VCR tapes and machines.
Interest and Demand
Interest in carrier testing is mixed in families with a history of CF and correlates with the psychodynamics surrounding individual experiences. Family attitudes range from avoiding all discussions about possible testing to having all members tested. In the general population, demand for CF carrier testing is low. All three studies offering preconception testing experienced difficulty in recruiting subjects unless solicitations were conducted in person by health personnel. Cost was a major factor in willingness to be tested. Interest was substantially lower when special visits were required for educational interventions or for obtaining the DNA specimen. Interest in CF testing was highest among individuals seeking prenatal testing or genetic counseling for other reasons.
Studies were designed to ascertain what information was viewed as most important to the decision to be tested. Identified factors included the prognoses and therapeutic prospects for people with CF, the impact on a family having a child with CF, social and economic risks of testing (including risks to insurability), test uncertainty, and reproductive implications (including abortion). Consortium investigators disagreed about the level of knowledge required for informed consent. Some individuals desired testing even when their posteducation questionnaire indicated a lack of knowledge about the test and its uncertainties.
Impact and Outcome
The consortium has continued to test for the most common six CF mutations, which account for 85 to 90% of CF cases. Of 2821 individuals tested, 64 were found to be carriers. Of four couples with a risk of 1 in 4, three offspring were diagnosed with the trait. One was found to be affected.
Only short-term follow-up for psychosocial-impact assessment has been possible, and much of this data has not been analyzed. Couples consisting of one carrier and one noncarrier displayed no obvious distress in spite of their statistically increased risk of having children with CF. Complex reactions to test results were shown in family studies, including carrier self-stigmatization and guilt among survivor siblings.
Preliminary cost analyses estimate that education, testing, and follow-up services for about 3500 individuals (in which 1 fetus affected with CF will be identified) will cost about $400,000. [Elizabeth Thomson and Eric Juengst, ELSI Program, NIH NCHGR]
Elizabeth Thomson and Eric Juengst
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Human Genome Program, U.S. Department of Energy, Human Genome News (v5n5).
The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. See Timeline for more HGP history.
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