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Clinical audit of genetic testing and referral patterns for fragile X and associated conditions
American journal of medical genetics. Part A, 2016-06, Vol.170A (6), p.1439-1449
Cotter, Megan
Archibald, Alison D.
McClaren, Belinda J.
Burgess, Trent
Francis, David
Hills, Louise
Martyn, Melissa
Oertel, Ralph
Slater, Howard
Cohen, Jonathan
Metcalfe, Sylvia A.
2016
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Cotter, Megan
Archibald, Alison D.
McClaren, Belinda J.
Burgess, Trent
Francis, David
Hills, Louise
Martyn, Melissa
Oertel, Ralph
Slater, Howard
Cohen, Jonathan
Metcalfe, Sylvia A.
Titel
Clinical audit of genetic testing and referral patterns for fragile X and associated conditions
Ist Teil von
American journal of medical genetics. Part A, 2016-06, Vol.170A (6), p.1439-1449
Ort / Verlag
United States: Blackwell Publishing Ltd
Erscheinungsjahr
2016
Quelle
MEDLINE
Beschreibungen/Notizen
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.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.37603
Titel-ID: cdi_proquest_miscellaneous_1794500821
Format
–
Schlagworte
Adolescent
,
Adult
,
Age Factors
,
Alleles
,
Child
,
Child, Preschool
,
Clinical Audit
,
diagnostic odyssey
,
Disease Management
,
Female
,
FMR1
,
Fragile X Mental Retardation Protein - genetics
,
fragile X syndrome
,
Fragile X Syndrome - diagnosis
,
Fragile X Syndrome - genetics
,
fragile X-associated conditions
,
Genetic Counseling
,
genetic testing
,
Genetic Testing - methods
,
Genetic Testing - standards
,
Humans
,
Infant
,
Male
,
Middle Aged
,
Mutation
,
Practice Patterns, Physicians
,
Referral and Consultation - standards
,
Victoria
,
Young Adult
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