These recommendations, published in the August 2005 issue of Journal of Genetic Counseling (Vol. 14, No. 4, pp. 249-270), are the revisions of the original guidelines (published in 2000), and describe the minimum standard criteria for genetic counseling and testing of individuals and families with fragile X syndrome, as well as carriers and potential carriers of a fragile X mutation.
Genetic Counseling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counselors
Allyn McConkie-Rosell(1, 7), Brenda Finucane(2), Amy Cronister(3), Liane Abrams(4), Robin L. Bennett(5) and Barbara J. Pettersen(6)
(1) Duke University Medical Center, Durham, North Carolina
(2) Elwyn Training and Research Institute, Elwyn, Pennsylvania
(3) Genzyme Genetics, Phoenix, Arizona
(4) Liane Abrams: National Fragile X Foundation, San Francisco, CA
(5) Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington
(6) Genetic Counseling of Central Oregon, Bend, Oregon
(7) Division of Medical Genetics, Duke University Medical Center, Box 3525, Durham, North Carolina, 27710
These recommendations describe the minimum standard criteria for genetic counseling and testing of individuals and families with fragile X syndrome, as well as carriers and potential carriers of a fragile X mutation. The original guidelines (published in 2000) have been revised, replacing a stratified pre- and full mutation model of fragile X syndrome with one based on a continuum of gene effects across the full spectrum of FMR1 CGG trinucleotide repeat expansion. This document reviews the molecular genetics of fragile X syndrome, clinical phenotype (including the spectrum of premature ovarian failure and fragile X-associated tremor-ataxia syndrome), indications for genetic testing and interpretation of results, risks of transmission, family planning options, psychosocial issues, and references for professional and patient resources. These recommendations are the opinions of a multicenter working group of genetic counselors with expertise in fragile X syndrome genetic counseling, and they are based on clinical experience, review of pertinent English language articles, and reports of expert committees. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.
For link to abstract online, click here.
(C) Journal of Genetic Counseling.
Posted by: Tressie Dalaya
Message posted by: Trevor M. D'Souza
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