Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening

Abstract

PurposePopulation-based carrier screening for fragile X syndrome (FXS) is still not universally endorsed by professional organizations due to concerns around genetic counseling for complex information and potential for psychosocial harms.MethodsWe determined uptake levels, decision making, and psychosocial impact in a prospective study of pregnant and nonpregnant Australian women offered FXS carrier screening in clinical settings. Women received pretest genetic counseling, and completed questionnaires when deciding and one month later.ResultsOf 1,156 women recruited, 83.1% returned the first questionnaire with 70.6% nonpregnant and 58.8% pregnant women choosing testing (χ=16.98, P<0.001). Overall, informed choice was high in both nonpregnant (77.4%) and pregnant (72.9%) women (χ=0.21, P=0.644), and more tested (76.0%) than not-tested (66.7%) women (χ=6.35, P=0.012) made an informed choice. Measures of depression, stress, and anxiety were similar to population norms for ~85% of women. Decisional conflict and regret were generally low; however, decisional uncertainty and regret were greater in pregnant than nonpregnant women, and not-tested than tested women (uncertainty: χ=18.51, P<0.001 and χ=43.11, P<0.001, respectively; regret: χ=6.61, P<0.037 and χ=35.54, P<0.001, respectively).ConclusionWe provide evidence to inform guidelines that population FXS carrier screening can be implemented with minimal psychosocial harms following appropriate information and prescreening genetic counseling.

Patient Characteristics, Experiences and Perceived Value of Pharmacogenetic Testing from a Single Testing Laboratory

“…Informed decision-making and patient comprehension (perceived or actual) of results have been studied for various types of genetic testing [1][2][3][4]. For PGx testing, a study of a direct-to-consumer company reported more than 80% understanding of results for response to statin medications without provider support [5].…”

Population-based Carrier Screening and Prenatal Diagnosis of Fragile X Syndrome in East Asian Populations

“…This is particularly pertinent in the era of expanded population-based carrier screening, where hundreds of diseases can be screened simultaneously 26 . In addition to its cost-effectiveness, other factors point towards the expansion of FXS screening criteria 34,35 . In fact, several national population-based screening programs, including FXS carrier screening, have already been implemented and have obtained positive outcomes [25][26][27] .…”

Response to Metcalfe et al.

“…To the Editor: It is encouraging that the article by Metcalfe and colleagues 1 and my corresponding Commentary 2 have stimulated a debate about the timeliness and value of prenatal and preconception screening for fragile X. The subsequent letter by Metcalfe et al 3 reflects the ongoing controversy.…”