title: Genetic laboratory practices related to testing of the GJB2 (Connexin-26) gene in the United States in 1999 and 2000.
abstract: Given the rapidly growing area of molecular genetic laboratory testing, we sought to assess changing issues over a 2-year period of time pertaining to the availability of testing for GJB2 mutations associated with non-syndromic hearing loss. Laboratory assessments carried out by telephone interviews with directors or other key personnel revealed variations among laboratories in informed consent practices, evaluation of test requests for appropriateness, and the reporting of results. From 1999 to 2000, referral patterns shifted as did sources for reimbursement, policies regarding evaluation of incoming test requests, and reporting procedures. We propose that these results reflect changes occurring as a result of a new test moving from the research to the clinical phase.
authors.affiliation: Centers for Disease Control and Prevention, National Center on Birth Defects and Development Disabilities, Atlanta, GA 30341-3724, USA. akenneson@cdc.gov
authors.forename: Aileen
authors.initials: A
authors.lastname: Kenneson
authors.forename: Melanie F
authors.initials: MF
authors.lastname: Myers
authors.forename: Ira M
authors.initials: IM
authors.lastname: Lubin
authors.forename: Coleen
authors.initials: C
authors.lastname: Boyle
mesh_terms: D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D006580:Genetic Carrier Screening; D030661:Genetic Privacy; D005820:Genetic Testing / Q000191:economics / Q000379:methods* / Q000592:standards / Q000706:statistics & numerical data*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007258:Informed Consent / Q000706:statistics & numerical data; D007407:Interviews as Topic; D009154:Mutation / Q000235:genetics; D017410:Practice Guidelines as Topic; D012017:Referral and Consultation / Q000706:statistics & numerical data; D014481:United States
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26