Tags

Type your tag names separated by a space and hit enter

Genetic testing for cystic fibrosis. National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis.

Abstract

OBJECTIVE

To provide health care providers, patients, and the general public with a responsible assessment of the optimal practices for genetic testing for cystic fibrosis (CF).

PARTICIPANTS

A nonfederal, nonadvocate, 14-member panel representing 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. In addition, 21 experts from these same fields presented data to the panel and a conference audience of 500.

EVIDENCE

The literature was searched through MEDLINE, and an extensive bibliography of references was provided to the panel and the conference audience. Experts prepared abstracts with relevant citations from the literature. Scientific evidence was given precedence over clinical anecdotal experience.

CONSENSUS PROCESS

The panel, answering predefined questions, developed its conclusions based on the scientific evidence presented in open forum and the scientific literature. The panel composed a draft statement that was read in its entirety and circulated to the experts and the audience for comment. Thereafter, the panel resolved conflicting recommendations and released a revised statement at the end of the conference. The panel finalized the revisions within a few weeks after the conference.

CONCLUSIONS

Genetic testing for CF should be offered to adults with a positive family history of CF, to partners of people with CF, to couples currently planning a pregnancy, and to couples seeking prenatal care. The panel does not recommend offering CF genetic testing to the general population or newborns. The panel advocates active research to develop improved treatments for people with CF and continued investigation into the understanding of the pathophysiology of the disease. Comprehensive educational programs targeted to health care professionals and the public should be developed using input from people living with CF and their families and from people from diverse racial and ethnic groups. Additionally, genetic counseling services must be accurate and provide balanced information to afford individuals the opportunity to make autonomous decisions. Every attempt should be made to protect individual rights, genetic and medical privacy rights, and to prevent discrimination and stigmatization. It is essential that the offering of CF carrier testing be phased in over a period to ensure that adequate education and appropriate genetic testing and counseling services are available to all persons being tested.

Links

  • Publisher Full Text
  • Source

    Archives of internal medicine 159:14 1999 Jul 26 pg 1529-39

    MeSH

    Consensus
    Cystic Fibrosis
    Disclosure
    Ethnic Groups
    Genetic Counseling
    Genetic Testing
    Genotype
    Heterozygote
    Humans
    Incidence
    Informed Consent
    Phenotype
    Population Surveillance
    Pregnant Women
    Risk Assessment
    United States

    Pub Type(s)

    Consensus Development Conference
    Consensus Development Conference, NIH
    Journal Article
    Review

    Language

    eng

    PubMed ID

    10421275

    Citation

    "Genetic Testing for Cystic Fibrosis. National Institutes of Health Consensus Development Conference Statement On Genetic Testing for Cystic Fibrosis." Archives of Internal Medicine, vol. 159, no. 14, 1999, pp. 1529-39.
    Genetic testing for cystic fibrosis. National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis. Arch Intern Med. 1999;159(14):1529-39.
    (1999). Genetic testing for cystic fibrosis. National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis. Archives of Internal Medicine, 159(14), pp. 1529-39.
    Genetic Testing for Cystic Fibrosis. National Institutes of Health Consensus Development Conference Statement On Genetic Testing for Cystic Fibrosis. Arch Intern Med. 1999 Jul 26;159(14):1529-39. PubMed PMID: 10421275.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Genetic testing for cystic fibrosis. National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis. PY - 1999/7/27/pubmed PY - 1999/7/27/medline PY - 1999/7/27/entrez KW - Genetics and Reproduction SP - 1529 EP - 39 JF - Archives of internal medicine JO - Arch. Intern. Med. VL - 159 IS - 14 N2 - OBJECTIVE: To provide health care providers, patients, and the general public with a responsible assessment of the optimal practices for genetic testing for cystic fibrosis (CF). PARTICIPANTS: A nonfederal, nonadvocate, 14-member panel representing 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. In addition, 21 experts from these same fields presented data to the panel and a conference audience of 500. EVIDENCE: The literature was searched through MEDLINE, and an extensive bibliography of references was provided to the panel and the conference audience. Experts prepared abstracts with relevant citations from the literature. Scientific evidence was given precedence over clinical anecdotal experience. CONSENSUS PROCESS: The panel, answering predefined questions, developed its conclusions based on the scientific evidence presented in open forum and the scientific literature. The panel composed a draft statement that was read in its entirety and circulated to the experts and the audience for comment. Thereafter, the panel resolved conflicting recommendations and released a revised statement at the end of the conference. The panel finalized the revisions within a few weeks after the conference. CONCLUSIONS: Genetic testing for CF should be offered to adults with a positive family history of CF, to partners of people with CF, to couples currently planning a pregnancy, and to couples seeking prenatal care. The panel does not recommend offering CF genetic testing to the general population or newborns. The panel advocates active research to develop improved treatments for people with CF and continued investigation into the understanding of the pathophysiology of the disease. Comprehensive educational programs targeted to health care professionals and the public should be developed using input from people living with CF and their families and from people from diverse racial and ethnic groups. Additionally, genetic counseling services must be accurate and provide balanced information to afford individuals the opportunity to make autonomous decisions. Every attempt should be made to protect individual rights, genetic and medical privacy rights, and to prevent discrimination and stigmatization. It is essential that the offering of CF carrier testing be phased in over a period to ensure that adequate education and appropriate genetic testing and counseling services are available to all persons being tested. SN - 0003-9926 UR - https://www.unboundmedicine.com/medline/citation/10421275/Genetic_testing_for_cystic_fibrosis__National_Institutes_of_Health_Consensus_Development_Conference_Statement_on_genetic_testing_for_cystic_fibrosis_ L2 - https://jamanetwork.com/journals/jamainternalmedicine/fullarticle/vol/159/pg/1529 DB - PRIME DP - Unbound Medicine ER -