“It's something I need to consider”: Decisions about carrier screening for fragile X syndrome in a population of non‐pregnant women

Abstract

Population carrier screening for fragile X syndrome can provide women with information about their risk of having a child with fragile X syndrome and their risk of fragile Xassociated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome. Few studies have explored women's decisions when offered carrier screening for fragile X syndrome. Interviews were conducted with 31 women who participated in a pilot study offering carrier screening to nonpregnant women. A qualitative approach was used to gain an in-depth understanding of women's experiences and examine their decision-making processes, including women who were tested and those who decided not to be tested. The decisionmaking process occurred in two phases. In the first phase, the participant's reproductive stage of life and experience with illness and disability were major factors influencing whether she would consider screening. In the second phase of decision -making, participants' perceptions of the value of knowing their carrier status was the most notable factor for influencing whether a woman actually had the carrier test. Some women appreciated having time for deliberation and those who were tested did not express regret about their decision. Our findings support offering carrier screening for fragile X syndrome to non-pregnant women and suggest that women from the general population will have specific informational and counseling needs when offered carrier testing. This study highlights the unique challenges encountered by women from the general population when making a decision about testing for fragile X syndrome carrier status and illustrates the importance of understanding how women make decisions.

Carrier screening in preconception consultation in primary care

“…Uptake of testing was 20%, possibly reflecting the Human Research Ethics Committee's requirement for women to return to the clinic at a later date to give the blood sample . Although this was a likely barrier to uptake it should not, however, be considered a negative aspect of how testing was offered as follow-up interviews with a sub-group of women revealed that women had more time to weigh their decision and, therefore, this barrier may have, in fact, supported informed decision-making (Archibald et al 2009). …”

“…Awareness of FXS is considered low in the general community (Anido et al 2005;Anido et al 2007;Archibald et al 2009;Fanos et al 2006;Metcalfe et al 2008). There have been only two reports measuring women's knowledge of FXS who were offered testing.…”

“It gives them more options”: preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare

“…Participants were unanimous in their views that individuals with test-positive results arising from FXS carrier screening should be provided with genetic counseling which is consistent with current recommendations (Finucane et al 2012;McConkie-Rosell et al 2007). Research indicates that individuals identified as carriers through population screening may differ in their genetic counseling needs compared with individuals who have a personal or family history of FXS, as they may be relatively unprepared for a carrier result (Anido et al 2005(Anido et al , 2007 and may have very limited knowledge and prior experience of FXS (Archibald et al 2009). Thus, clear pathways for referral for carriers should be an integral component of any FXS screening program and genetics services should have protocols for coordinating the management of individuals identified through population screening programs and their families .…”

“…Briefly, stakeholders invited to take part in this study included health professionals, relatives of people with FXS, and members of the general community (this included women who had been offered FXS carrier screening through a research study (Archibald et al 2009;Metcalfe et al 2008)). Approval to recruit members of stakeholder groups was granted by the following Human Research Ethics Committees (HREC): The University of Melbourne HREC, Family Planning Victoria (HREC), and the Royal Childrens Hospital (RCH) (Melbourne, Victoria) HREC.…”

“…The need for appropriate education and genetic counseling has been emphasized as has the importance of research exploring psychosocial impacts of such screening (Finucane et al 2012;Sherman et al 2005). Research indicates that population screening for FXS is generally perceived favorably by families and healthcare providers (Acharya and Ross 2009;Archibald et al 2013;Ryynanen et al 1999;Skinner et al 2003) as well as individuals offered screening in research contexts (Anido et al 2005(Anido et al , 2007Archibald et al 2009;Fanos et al 2006;Metcalfe et al 2008;Sherman et al 2005), and there appears to be a preference for screening offered before pregnancy (Acharya and Ross 2009;Archibald et al 2013;Skinner et al 2003). As carrier screening approaches have varied, there is no clear consensus on how best to deliver population-based carrier screening for FXS.…”