Acceptance of fragile X premutation genetic screening in women with ovarian dysfunction.
OBJECTIVE
The purpose of this study was to assess patient perception of fragile X premutation genetic testing (FRAX).


METHODS
This was a cross-sectional survey of women with elevated follicle stimulating hormone levels with (premature ovarian failure or early menopause [POF/EM], n = 20) or without (diminished ovarian reserve [DOR], n = 20) amenorrhea. Seventy-five percent participated.


RESULTS
Seventy-five percent of the DOR group and 43% of the POF/EM group desired FRAX testing. Eighty-three percent wanted to assist the scientific knowledge of FRAX, even if they did not want to know their own results. POF/EM women were more concerned than DOR women about paying out-of-pocket (P = .001) and maintaining confidentiality insurance-wise (P = .07). Primary motivations for women who wanted testing were the desire to know if they have FRAX, and wanting to determine if FRAX is the cause of their ovarian dysfunction. The primary decision factor for those declining testing was unwillingness to pay out-of-pocket (75%).


CONCLUSIONS
Women with ovarian dysfunction are interested in FRAX testing. Cost, confidentiality, and the implications for relatives are their key concerns.
Pastore
Lisa M
LM
Department of Obstetrics and Gynecology, University of Virginia, Charlottesville, VA 22908-0712, USA. lpastore@virginia.edu
Karns
Logan B
LB
Pinkerton
JoAnn V
JV
Silverman
Lawrence M
LM
Williams
Christopher D
CD
Camp
Teresa R
TR
D000328:Adult; D000568:Amenorrhea / Q000235:genetics*; D003430:Cross-Sectional Studies; D005260:Female; D043373:Follicle Stimulating Hormone, Human / Q000097:blood*; D005600:Fragile X Syndrome / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008875:Middle Aged; D010342:Patient Acceptance of Health Care; D016649:Primary Ovarian Insufficiency / Q000235:genetics*
D043373:Follicle Stimulating Hormone, Human