Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders

Allyn McConkie-Rosell, Liane Abrams, Brenda Finucane, Amy Cronister, Louise W. Gane, Sarah M. Coffey, Stephanie Sherman, Lawrence M. Nelson, Elizabeth Berry-Kravis, David R Hessl, Sufen Chiu, Natalie Street, Ajay Vatave, Randi J Hagerman

Research output: Contribution to journalArticlepeer-review

62 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)593-606
Number of pages14
JournalJournal of Genetic Counseling
Issue number5
StatePublished - Oct 2007


  • Autism spectrum disorders
  • FMR1
  • Fragile X syndrome
  • Fragile X-associated tremor/ataxia syndrome
  • Genetic counseling
  • Newborn screening
  • Population screening
  • Premature ovarian failure

ASJC Scopus subject areas

  • Genetics(clinical)


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