A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a p
June 28th, 2008 | by admin |A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study.
PURPOSE:: 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. CONCLUSION:: 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 S, Jacques A, Archibald A, Burgess T, Collins V, Henry A, McNamee K, Sheffield L, Slater H, Wake S, Cohen J.
From the 1Murdoch Childrens Research Institute, Melbourne, Australia; 2Department of Paediatrics, The University of Melbourne, Melbourne, Australia; 3Victorian Clinical Genetics Services Pathology, Melbourne, Australia; 4Family Planning Victoria, Melbourne, Australia; 5Genetic Health Services Victoria, Melbourne, Australia; 6Fragile X Alliance Inc, Melbourne, Australia; and 7Centre for Developmental Disability Health Victoria, Monash University, Melbourne, Australia.