title: Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders.
abstract: The purpose of this paper is to report the outcome of a collaborative project between the Fragile X Research and Treatment Center at the Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute at the University of California at Davis, the National Fragile X Foundation (NFXF), and the Centers for Disease Control and Prevention (CDC). The objective of this collaboration was to develop and disseminate protocols for genetic counseling and cascade testing for the multiple disorders associated with the fragile X mental retardation 1 (FMR1) mutation. Over the last several years, there has been increasing insight into the phenotypic range associated with both the premutation and the full mutation of the FMR1 gene. To help develop recommendations related to screening for fragile X-associated disorders, four, two day advisory focus group meetings were conducted, each with a different theme. The four themes were: (1) fragile X-associated tremor/ataxia syndrome (FXTAS); (2) premature ovarian failure (POF) and reproductive endocrinology; (3) psychiatric, behavioral and psychological issues; and (4) population screening and related ethical issues.
authors.affiliation: Duke University Medical Center, Durham, NC, USA. mccon006@mc.duke.edu
authors.forename: Allyn
authors.initials: A
authors.lastname: McConkie-Rosell
authors.forename: Liane
authors.initials: L
authors.lastname: Abrams
authors.forename: Brenda
authors.initials: B
authors.lastname: Finucane
authors.forename: Amy
authors.initials: A
authors.lastname: Cronister
authors.forename: Louise W
authors.initials: LW
authors.lastname: Gane
authors.forename: Sarah M
authors.initials: SM
authors.lastname: Coffey
authors.forename: Stephanie
authors.initials: S
authors.lastname: Sherman
authors.forename: Lawrence M
authors.initials: LM
authors.lastname: Nelson
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Berry-Kravis
authors.forename: David
authors.initials: D
authors.lastname: Hessl
authors.forename: Sufen
authors.initials: S
authors.lastname: Chiu
authors.forename: Natalie
authors.initials: N
authors.lastname: Street
authors.forename: Ajay
authors.initials: A
authors.lastname: Vatave
authors.forename: Randi J
authors.initials: RJ
authors.lastname: Hagerman
mesh_terms: D017144:Focus Groups; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D008487:Medical History Taking; D009154:Mutation
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human