A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study

• Published in: Genetics in medicine Vol. 10; no. 7; pp. 525 - 535
• Main Authors: Metcalfe, Sylvia, Jacques, Alice, Archibald, Alison, Burgess, Trent, Collins, Veronica, Henry, Anna, McNamee, Kathleen, Sheffield, Leslie, Slater, Howard, Wake, Samantha, Cohen, Jonathan
• Format: Journal Article
• Language: English
• Published: New York Elsevier Inc 01.07.2008; Nature Publishing Group US
• Subjects: Adult; Biomedical and Life Sciences; Biomedicine; Blotting, Southern; carrier screening; decision-making; DNA Primers - genetics; Female; fragile X syndrome; Fragile X Syndrome - genetics; Genetic Carrier Screening - methods; Genetic Testing - methods; Health Knowledge, Attitudes, Practice; Human Genetics; Humans; Interviews as Topic; Laboratory Medicine; Pilot Projects; preconception; program evaluation; Prospective Studies; Victoria; carrier screening; preconception; program evaluation; decision-making; fragile X syndrome
• ISSN: 1098-3600; 1530-0366
• DOI: 10.1097/GIM.0b013e31817c036e

To develop a model of offering population carrier screening for fragile X syndrome to nonpregnant women in primary care, using a program evaluation framework. 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. 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. 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.