ELSI Program Reports

Cystic Fibrosis Consensus Development Conference Followup Workshop

A National Institutes of Health (NIH) Consensus Development Conference on Genetic Testing for Cystic Fibrosis was held on April 14-16, 1997. The consensus panel recommended that genetic testing should be offered to: (1) "adults with a positive family history of cystic fibrosis (CF); (2) to partners of people with CF; (3) to couples currently planning a pregnancy; and (4) to couples seeking prenatal testing." The panel did not recommend offering the test to the general population or to newborn infants at this time. The panel concluded that, "It is essential that the offering of CF carrier testing be phased in over a period of time in order to ensure that adequate education and appropriate genetic testing and counseling services are available to all persons being tested."

To facilitate this process, the National Human Genome Research Institutes (NHGRI), the NIH Office of Rare Diseases (ORD), the Agency for Health Care Policy Research (AHCPR) and the Centers for Disease Control and Prevention (CDC), in collaboration with a number of other NIH institutes and health professional organizations, held a workshop October 15-16, 1997 in Bethesda, Maryland. This meeting set a precedent for bringing together highly diverse professional and consumer representatives to further deliberate the issues surrounding genetic testing for CF. Outcomes of this meeting included:

  • Agreement that research indicates there is interest in some populations in having access to genetic testing for CF.

  • A strong recommendation that the interdisciplinary professional and consumer groups represented at the meeting continue to work together to provide further clarification about protocols for CF genetic testing.

  • The preliminary formation of a group to refine existing educational and informed consent materials.

  • The consensus of the meeting participants was that an 18 to 36 month time line for further implementation is expected, therefore such testing is not considered to be the "standard of care" at this time.

The American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Geneticists (ACMG), working with the NHGRI, have established a steering committee with representation from a number of professional and consumer organizations. This committee has formed three working groups to develop clinical, laboratory, and education practices and guidelines to support the implementation of the consensus recommendations.

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Last Reviewed: October 1, 2012