title: Fragile X screening: attitudes of genetic health professionals.
abstract: Although genetic health professionals (GHP) are major stakeholders in developing and implementing fragile X (FrX) testing and screening guidelines, their attitudes about FrX testing and population screening are virtually absent in the literature. A survey was conducted of physician geneticists (geneticists) and genetic counselors (GC). The survey addressed GHP's attitudes towards (1) prenatal FrX carrier screening; (2) pre- and full mutation screening of male and female newborns; (3) the single best time for FrX screening over the lifespan; and (4) their willingness to test a normally developing child with a positive family history. Surveys were completed by 30% (273/894) of eligible GHP. Attitudes of geneticists and GC were mostly indistinguishable. The single most favored screening approaches were (1) preconception screening targeted at women with a positive family history (43%); and (2) universal preconception screening (29%). While only 6% and 11% declared universal prenatal and universal newborn screening (NBS) as the ideal time respectively, 73% and 60% respectively would support such programs. GHP would design a NBS program to test male and female infants and to identify both pre- and full mutations. Over half would agree to order FrX testing on some normally developing children with a positive family history. In expanding FrX testing and screening to low risk individuals, GHP prefer preconception screening as the single best time. The majority also support prenatal screening and NBS. If NBS were to be introduced, GHP prefer screening to identify boys and girls with both pre- and full mutations.
authors.affiliation: Department of Pediatrics, University of Chicago, Chicago, Illinois 60637, USA. kacharya@peds.bsd.uchicago.edu
authors.forename: Kruti
authors.initials: K
authors.lastname: Acharya
authors.forename: Lainie Friedman
authors.initials: LF
authors.lastname: Ross
mesh_terms: D001291:Attitude of Health Personnel; D002648:Child; D003625:Data Collection; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005817:Genetic Counseling / Q000523:psychology; D005820:Genetic Testing / Q000523:psychology*; D005826:Genetics, Medical; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000523:psychology*