NDLI: Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors

Content Provider	Springer Nature Link
Author	Finucane, Brenda Abrams, Liane Cronister, Amy Archibald, Alison D. Bennett, Robin L. McConkie Rosell, Allyn
Copyright Year	2012
Abstract	Fragile X syndrome (FXS) is one of several clinical disorders associated with mutations in the X-linked Fragile X Mental Retardation-1 (FMR1) gene. With evolving knowledge about the phenotypic consequences of FMR1 transcription and translation, sharp clinical distinctions between pre- and full mutations have become more fluid. The complexity of the issues surrounding genetic testing and management of FMR1-associated disorders has increased; and several aspects of genetic counseling for FMR1 mutations remain challenging, including risk assessment for intermediate alleles and the widely variable clinical prognosis for females with full mutations. FMR1 mutation testing is increasingly being offered to women without known risk factors, and newborn screening for FXS is underway in research-based pilot studies. Each diagnosis of an FMR1 mutation has far-reaching clinical and reproductive implications for the extended family. The interest in large-scale population screening is likely to increase due to patient demand and awareness, and as targeted pharmaceutical treatments for FXS become available over the next decade. Given these developments and the likelihood of more widespread screening, genetic counselors across a variety of healthcare settings will increasingly be called upon to address complex diagnostic, psychosocial, and management issues related to FMR1 gene mutations. The following guidelines are intended to assist genetic counselors in providing accurate risk assessment and appropriate educational and supportive counseling for individuals with positive test results and families affected by FMR1-associated disorders.
Starting Page	752
Ending Page	760
Page Count	9
File Format	PDF
ISSN	10597700
Journal	Journal of Genetic Counseling
Volume Number	21
Issue Number	6
e-ISSN	15733599
Language	English
Publisher	Springer US
Publisher Date	2012-07-14
Publisher Place	Boston
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Fragile X FMR1 FXTAS FXPOI Genetic counseling Human Genetics Public Health Ethics Clinical Psychology Gynecology
Content Type	Text
Resource Type	Article
Subject	Genetics (clinical)

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