title: A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study.
abstract: OBJECTIVE
  To develop a model of offering population carrier screening for fragile X syndrome to nonpregnant women in primary care, using a program evaluation framework.
  
  
  METHODS
  A three-phase approach included: (I) needs assessment exploring staff and client attitudes, and informing development of educational materials, questionnaires and protocols; (II) offering screening to women, with questionnaires at baseline (Q1) and another (Q2) 1-month later; (III) genetic counseling for test-positive women and interviews with a subgroup of participants.
  
  
  RESULTS
  Of 338 volunteering for Phase II, 94% completed Q1, 59% completed Q2, and 20% (N = 65) chose testing revealing one premutation carrier and three gray zone results; 31 women were interviewed. Tested women had more positive attitudes toward screening (Q1: P < 0.001; Q2: P < 0.001) compared with untested, although there was no significant difference in mean knowledge scores or anxiety. Women generally supported being offered prepregnancy screening; however, reasons against being tested included: not currently planning a family; perceiving benefits of screening as unimportant; and having to return for testing.
  
  
  CONCLUSIONS
  This is the first prospective study exploring informed decision-making for fragile X syndrome carrier screening, using a thorough process of consultation, with no apparent harms identified. It provides a model for development of future genetic screening programs.
authors.affiliation: Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Rd, Parkville, VIC 3052, Australia. sylvia.metcalfe@mcri.edu.au
authors.forename: Sylvia
authors.initials: S
authors.lastname: Metcalfe
authors.forename: Alice
authors.initials: A
authors.lastname: Jacques
authors.forename: Alison
authors.initials: A
authors.lastname: Archibald
authors.forename: Trent
authors.initials: T
authors.lastname: Burgess
authors.forename: Veronica
authors.initials: V
authors.lastname: Collins
authors.forename: Anna
authors.initials: A
authors.lastname: Henry
authors.forename: Kathleen
authors.initials: K
authors.lastname: McNamee
authors.forename: Leslie
authors.initials: L
authors.lastname: Sheffield
authors.forename: Howard
authors.initials: H
authors.lastname: Slater
authors.forename: Samantha
authors.initials: S
authors.lastname: Wake
authors.forename: Jonathan
authors.initials: J
authors.lastname: Cohen
mesh_terms: D000328:Adult; D015139:Blotting, Southern; D017931:DNA Primers / Q000235:genetics; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D006580:Genetic Carrier Screening / Q000379:methods*; D005820:Genetic Testing / Q000379:methods*; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D007407:Interviews as Topic; D010865:Pilot Projects; D011446:Prospective Studies; D014739:Victoria
chemical_list: D017931:DNA Primers