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
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