A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study.
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.
Metcalfe
Sylvia
S
Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Rd, Parkville, VIC 3052, Australia. sylvia.metcalfe@mcri.edu.au
Jacques
Alice
A
Archibald
Alison
A
Burgess
Trent
T
Collins
Veronica
V
Henry
Anna
A
McNamee
Kathleen
K
Sheffield
Leslie
L
Slater
Howard
H
Wake
Samantha
S
Cohen
Jonathan
J
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
D017931:DNA Primers