Genetic testing for cystic fibrosis - National Institutes of Health Consensus Development Conference statement on genetic testing for cystic fibrosis

Objective: To provide health care providers, patients, and the general publ ic with a responsible assessment of the optimal practices for genetic resti ng for cystic fibrosis (CF). Participants: A nonfederal, nonadvocate, 14-member panel representing the f ields of genetics, obstetrics, internal medicine, nursing, social work, epi demiology, pediatrics, psychiatry, genetic counseling, bioethics, health ec onomics, health services research, law, and the public. In addition, 21 exp erts from these same fields presented data to the panel and a conference au dience of 500. Evidence: The literature was searched through MEDLINE, and an extensive bib liography of references was provided to the panel and the conference audien ce. Experts prepared abstracts with relevant citations from the literature. Scientific evidence tvas given precedence over clinical anecdotal experien ce. Consensus Process: The panel, answering predefined questions, developed its conclusions based on the scientific evidence presented in open forum and t he scientific literature. The panel composed a draft statement that was rea d in its entirety and circulated to the experts and the audience for commen t. Thereafter, the panel resolved ed conflicting recommendations and releas ed a revised statement at the end of the conference. The panel finalized th e revisions within a few weeks after the conference. Conclusions: Genetic testing for CF should be offered to adults with a posi tive family history of CF, to partners of people with CF, to couples curren tly planning a pregnancy, and to couples seeking prenatal care. The panel d oes not recommend offering CF genetic testing to the general population or newborns. The panel advocates active research to develop improved treatment s for people with CF and continued investigation into the understanding of the pathophysiology of the disease. Comprehensive educational programs targ eted to health care professionals and the public should be developed using input from people living with CF and their families and from people from di verse racial and ethnic groups. Additionally, genetic counseling services m ust be accurate and provide balanced information to afford individuals the opportunity to make autonomous decisions. Every attempt should be made to p rotect individual rights, genetic and medical privacy rights, and to preven t discrimination and stigmatization. It is essential that the offering of C F carrier testing be phased in over a period to ensure that adequate educat ion and appropriate genetic testing and counseling services are available t o all persons being tested.