title: Clinical audit of genetic testing and referral patterns for fragile X and associated conditions.
abstract: An audit was conducted of laboratory/clinical databases of genetic tests performed between January 2003 and December 2009, and for 2014, as well as referrals to the clinical service and a specialist multidisciplinary clinic, to determine genetic testing request patterns for fragile X syndrome and associated conditions and referrals for genetic counseling/multidisciplinary management in Victoria, Australia. An expanded allele (full mutation, premutation or intermediate) was found in 3.7% of tests. Pediatricians requested ∼70% of test samples, although fewer general practitioners and more obstetricians/gynecologists ordered tests in 2014. Median age at testing for individuals with a full mutation seeking a diagnosis without a fragile X family history was 4.3 years (males) and 9.4 years (females); these ages were lower when pediatricians ordered the tests (2.1 years and 6.1 years, respectively). Individuals with a premutation were generally tested at a later age (median age: males, 33.2 years; females, 36.4 years). Logistic regression showed that a family history of ID (OR 3.28 P = 0.005, CI 1.77-5.98) was the only indication to independently increase the likelihood of a test-positive (FM or PM) result. Following testing, ∼25% of full mutation or premutation individuals may not have attended clinical services providing genetic counseling or multidisciplinary management for these families. The apparent delay in fragile X syndrome diagnosis and lack of appropriate referrals for some may result in less than optimal management for these families. These findings suggest continued need for awareness and education of health professionals around diagnosis and familial implications of fragile X syndrome and associated conditions. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.|Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia.|Clinical Genetics, Austin Health, Heidelberg, VIC, Australia.
authors.forename: Megan
authors.initials: M
authors.lastname: Cotter
authors.affiliation: Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.|Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia.|Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Parkville, VIC, Australia.
authors.forename: Alison D
authors.initials: AD
authors.lastname: Archibald
authors.affiliation: Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.|Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia.
authors.forename: Belinda J
authors.initials: BJ
authors.lastname: McClaren
authors.affiliation: Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia.|Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Parkville, VIC, Australia.
authors.forename: Trent
authors.initials: T
authors.lastname: Burgess
authors.affiliation: Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Parkville, VIC, Australia.
authors.forename: David
authors.initials: D
authors.lastname: Francis
authors.affiliation: Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Parkville, VIC, Australia.
authors.forename: Louise
authors.initials: L
authors.lastname: Hills
authors.affiliation: Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.
authors.forename: Melissa
authors.initials: M
authors.lastname: Martyn
authors.affiliation: Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Parkville, VIC, Australia.
authors.forename: Ralph
authors.initials: R
authors.lastname: Oertel
authors.affiliation: Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia.|Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Parkville, VIC, Australia.
authors.forename: Howard
authors.initials: H
authors.lastname: Slater
authors.affiliation: Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.|Fragile X Alliance Inc, North Caulfield, VIC and Center for Developmental Disability Health Victoria, Monash University, Clayton, VIC, Australia.
authors.forename: Jonathan
authors.initials: J
authors.lastname: Cohen
authors.affiliation: Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.|Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia.
authors.forename: Sylvia A
authors.initials: SA
authors.lastname: Metcalfe
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D054869:Clinical Audit; D019468:Disease Management; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005817:Genetic Counseling; D005820:Genetic Testing / Q000379:methods / Q000592:standards*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010818:Practice Patterns, Physicians'; D012017:Referral and Consultation / Q000592:standards*; D014739:Victoria; D055815:Young Adult
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1
keywords: FMR1; diagnostic odyssey; fragile X syndrome; fragile X-associated conditions; genetic testing