title: An audit of clinical service examining the uptake of genetic testing by at-risk family members.
abstract: OBJECTIVE
  The aim of this study was to investigate the uptake of genetic testing by at-risk family members for four genetic conditions: chromosomal translocations, fragile X syndrome, Huntington disease, and spinal muscular atrophy.
  
  
  METHODS
  A clinical audit was undertaken using genetics files from Genetic Health Services Victoria. Data were extracted from the files regarding the number of at-risk family members and the proportion tested. Information was also collected about whether discussion of at-risk family members and family communication during the genetic consultation was recorded.
  
  
  RESULTS
  The proportion of at-risk family members who had genetic testing ranged from 11% to 18%. First-degree family members were most frequently tested and the proportion of testing decreased by degree of relatedness to the proband. Smaller families were significantly more likely to have genetic testing for all conditions except Huntington disease. Female at-risk family members were significantly more likely to have testing for fragile X syndrome.
  
  
  CONCLUSIONS
  The majority of at-risk family members do not have genetic testing. Family communication is likely to influence the uptake of genetic testing by at-risk family members and therefore it is important that families are supported while communicating to ensure that at-risk family members are able to make informed decisions about genetic testing.
authors.affiliation: Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Australia. laura.forrest@anu.edu.au
authors.forename: Laura
authors.initials: L
authors.lastname: Forrest
authors.forename: Martin
authors.initials: M
authors.lastname: Delatycki
authors.forename: Lisette
authors.initials: L
authors.lastname: Curnow
authors.forename: M
authors.initials: M
authors.lastname: Gen Couns
authors.forename: Loane
authors.initials: L
authors.lastname: Skene
authors.forename: Maryanne
authors.initials: M
authors.lastname: Aitken
mesh_terms: D054869:Clinical Audit; D003142:Communication; D005190:Family; D005191:Family Characteristics; D005260:Female; D005817:Genetic Counseling; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008297:Male; D012306:Risk; D012737:Sex Factors; D014178:Translocation, Genetic