NIH Consensus Panel Makes Recommendations for Offering Genetic Testing for Cystic Fibrosis

Office of the DirectorFOR IMMEDIATE RELEASE, Wednesday, Apr. 16, 1997, Bill Hall, 301-496-4819, Sharon Durham

An independent, non-Government consensus panel convened by the National Institutes of Health (NIH) today recommended that testing for gene mutations that cause cystic fibrosis be offered as an option to all pregnant couples and those planning pregnancy. The panel said that individuals with a family history of the disease and partners of people with cystic fibrosis also should be offered genetic testing. The panel further recommended that insurance cover the procedure in all of these populations.

Because the risk of cystic fibrosis is low in the general population and interest in testing is limited, the panel did not advocate genetic testing for this group. Additionally, the panel did not endorse genetic testing of newborns for cystic fibrosis because current research does not yet show a benefit.

"As more and more genetic tests for a variety of diseases become available, it is important for both health care providers and patients to understand the limitations and implications of such tests. Our recommendations for cystic fibrosis testing may serve as a guide for the complex testing issues that will undoubtedly arise with other inherited diseases," said panel chair R. Rodney Howell, M.D., professor and chairman of pediatrics at the University of Miami School of Medicine in Florida.

More than 25,000 Americans have cystic fibrosis, which is the most common inherited disorder in people of Northern European descent. The disease occurs with varying frequencies in other ethnic populations in the United States, including African Americans, Hispanics, Ashkenazi Jews, Asian Americans, and Native Americans. Cystic fibrosis occurs when a child inherits two mutated copies of cystic fibrosis gene (known as CFTR), one from each parent. Genetic testing for cystic fibrosis in adults usually means identifying healthy carriers--people who have one copy of the mutated gene and who will never develop the disease. However, people who are carriers may be at risk of having a child with cystic fibrosis if their partner is a carrier.

Cystic fibrosis usually is diagnosed within the first year of life and its symptoms include lung, pancreatic, and intestinal complications, which can range from mild to severe. Today, many people with cystic fibrosis live productive lives into their thirties and beyond. However, 90 percent of patients die from the lung damage caused by the disease.

In all cases where genetic testing is offered, the consensus panel emphasized the importance of education, counseling, and informed consent. Furthermore, information about living with cystic fibrosis should be presented in a balanced and nonjudgmental manner. The panel called for research on educational efforts aimed at health care providers as well patients and their families that includes discussion of basic inheritance patterns, risk of disease occurrence, and treatment options.

The panel encouraged future research to compare different testing strategies; to assess people's attitudes about genetic testing and its implications; to determine if genetic testing of newborns can improve health; and to investigate the impact of genetic carrier status and misuse of genetic information on insurability and discrimination.

The 14-member panel represented the fields of genetics, obstetrics, internal medicine, nursing, social work, epidemiology, pediatrics, psychiatry, genetic counseling, bioethics, health economics, health services research, law, and the public. The panel made its recommendations at the close of a 3-day NIH Consensus Development Conference on Genetic Testing for Cystic Fibrosis.

The NIH Consensus Development Program was established in 1977 as a "science court" mechanism to resolve in an unbiased, impartial manner controversial topics in medicine and public health. In the past 20 years, NIH has conducted more than 100 such conferences addressing a wide range of controversial medical issues important to health care providers, patients, and the general public. NIH holds an average of six consensus conferences each year.

This conference was sponsored by the NIH Office of Medical Applications of Research and the National Human Genome Research Institute. The next NIH Consensus Development Conference will be held November 3-5, 1997 on Acupuncture.

The full NIH Consensus Statement on Genetic Testing for Cystic Fibrosis is available by calling toll free 1-888-NIH-CONSENSUS (1-888-644-2667) or by visiting the NIH Consensus Program web site at http://consensus.nih.gov.