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Human Genome News Archive Edition

Human Genome News, January 1992; 3(5)

NIH Initiates Clinical Studies on Cystic Fibrosis Testing, Education, and Counseling

The recent development of a clinical test for major DNA mutations causing cystic fibrosis (CF) is the culmination of years of intense research. Clinical tests for other disease-producing genetic mutations will become available much more quickly, partly because of research tools to be generated by the Human Genome Project. Thus, professional practices governing the use of the CF test will be relevant to a wide range of future genetic testing services.

CF, a single-gene recessive disorder-caused by two altered copies of the gene, one from each parent-is one of the most common hereditary diseases in the United States. A single copy of the CF gene mutation is inherited by an estimated 1 in 25 Americans of European ancestry; 1 in 2500 inherits 2 altered copies of the gene and has the disorder.

Through genetic testing, couples can determine their risk of having a child with CF. The current test detects 85 to 95% of all CF mutations. If neither prospective parent tests positive for a CF mutation, the risk is substantially below the risk for the general population. If both partners carry a mutation, they face a 1 in 4 chance of having a child with CF. If only one partner carries a mutation, the risk depends on whether or not the other partner carries a CF mutation not yet detectable with current methodologies.

Explaining this information to individuals, helping them decide whether or not to be tested, and counseling them about the results can be a sensitive, complex, and time-consuming process for genetics professionals. Increasingly, individuals with no known family history of CF are also asking their health professionals about testing. Because the number of trained genetics professionals is unlikely to be sufficient to meet the rising demand for genetic services, other health providers must know how to respond to such requests.

Recognizing this need, several professional groups called for a coordinated effort to identify testing, education, and counseling practices that would increase patient understanding of the CF-carrier test and protect people from test-related psychological harm, stigmatization, and discrimination. These groups were (1) participants in the 1990 NIH Workshop on Population Screening for Cystic Fibrosis; (2) the American Society of Human Genetics; and (3) the Joint NIH-DOE Working Group on the Ethical, Legal, and Social Implications (ELSI) of Human Genome Research.

Three NIH components-the National Center for Human Genome Research (NCHGR), the National Institute of Child Health and Human Development, and the National Center for Nursing Research-responded to these concerns by initiating a 3-year research project to define the best methods of educating and counseling individuals who want to be tested for CF mutations. Seven research teams across the country will conduct eight studies to address the following issues in testing, education, and counseling:

  • Levels of understanding and interest in CF-carrier testing among different populations.
  • Optimum forms of pretest education for different populations.
  • Most effective posttest counseling strategies, in terms of the understanding and psychological health of tested individuals and families.
  • Optimum locations for CF-carrier testing services.
  • Recordkeeping and disclosure policies to protect against stigmatization, discrimination, and breaches of confidentiality.
  • Accuracy and cost-effectiveness of various types of tests.

Two studies will address these questions as they apply to families with known histories of CF, and the remaining studies will evaluate methods of educating and counseling people not known to have relatives affected with CF.

These eight coordinated projects address a broad range of issues important in developing sound public and professional policies to guide the integration of genetic tests into clinical practice. Findings from interstudy comparisons should serve as paradigms for the introduction of DNA-based genetic tests for other common, single-gene recessive disorders.

To foster cooperation among the seven CF investigative groups coordinated by NCHGR, the Cystic Fibrosis Studies Consortium (CFSC) held its first meeting on the NIH campus on November 1 and 2, 1991. Principal investigators of each study and other research team members attended. Experts gave brief presentations in the areas of laboratory procedures, psychological testing and evaluation, informed consent and confidentiality, development of educational materials, assessment of costs, and ethnocultural issues. A representative from the Cystic Fibrosis Foundation and a physician specializing in the care of CF patients were invited participants in the discussion.

Where appropriate, some features of the research, such as evaluation measures and tools, cost assessment, laboratory quality-control procedures, and protection of human subjects, will be standardized among participating sites. CFSC members agreed to

  • explore quality control and proficiency testing issues,
  • use a core set of psychological evaluation instruments,
  • develop a common guide to describing CF for consortium reference, and
  • circulate educational materials developed by each research team among the consortium members.

To facilitate such coordination, the group will meet regularly to refine methodologies, exchange information, and share unique components of their projects.

CF is a disorder that affects mucous membranes, particularly in the lungs, where a thick mucous buildup makes the individual more susceptible to infections and other complications. Until recently, most people with CF did not live into their thirties.

NIH CF Studies (First-Year Funding)

  • "An Evaluation of Testing and Counseling for CF Carriers," James Sorenson, University of North Carolina, Chapel Hill ($231,916)
  • "Perception of Carrier Status by Cystic Fibrosis Siblings," Joanna Fanos, Children's Hospital Oakland Research Institute, Oakland, California ($73,196)
  • "Cystic Fibrosis Screening: An Alternative Paradigm," John Phillips, Vanderbilt University, Nashville, Tennessee ($206,513)
  • "Testing and Counseling for Cystic Fibrosis Mutations," Peter Rowley, University of Rochester, Rochester, New York ($274,110)
  • "Cystic Fibrosis Mutation Screening and Counseling," Wayne Grody, University of California School of Medicine, Los Angeles ($179,067)
  • "Ethical and Policy Issues in Cystic Fibrosis Screening," Neil A. Holtzman, Johns Hopkins University, Baltimore ($314,449)
  • "Prescriptive Decision Modeling for Cystic Fibrosis Screening" and a complementary clinical study, "How Much Information Do Couples Want?" David Asch, University of Pennsylvania, Philadelphia ($197,634 and $180,201)

Reported by Elinor J. Langfelder, Eric T. Juengst, and Elizabeth Thomson

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