Attitudes Toward Fragile X Mutation Carrier Testing from Women Identified in a General Population Survey

Abstract

Fragile X syndrome is primarily due to a CGG repeat expansion found in the FMR1 X-linked gene. In a previous study, we conducted focus groups with women to assess their attitudes towards fragile X carrier screening. In this follow-up study, we conducted in-depth interviews of general population reproductive-age women who were identified as carriers. We explored their attitudes toward testing for carrier status of the fragile X mutation. These women underwent screening primarily to participate in a research project rather than in search of a diagnosis for specific symptoms. As such, these women were wholly unprepared for positive carrier results. Their responses about their results and carrier screening, in many cases, were being worked out over the course of the interview itself. The most salient finding of this work is the apparent lack of relevance of carrier status to these women. Many expressed that although the information could be relevant in the future, it is not relevant at this stage of their lives in terms of family planning (either with respect to having unaffected offspring or to premature ovarian failure) and personal relationships. Although issues of abortion seemed prominent in the focus groups, we found that carrier status did not have an apparent effect on women's attitudes about termination. We hypothesize this may be related to the fact that women had not processed their new carrier status and had not related it to previously-formed personal opinions. The findings of this work have significant implications for genetic counseling and population screening. Genetic counselors should be mindful that general population women may not recognize the immediate importance of their carrier status even when literature is provided and discussed prior to providing a sample. As part of comprehensive genetic counseling, counselors should identify the reproductive life stage of the woman receiving the new information and help her identify when this information would be more meaningful in her life. Counselors can assist in setting up a personalized road map with specific types of services that will be more applicable to the woman as her carrier status becomes more relevant.

BRCA genetic testing of individuals from families with low prevalence of cancer: experiences of carriers and implications for population screening

“…Anido et al found that Fragile X carriers who were identified through participating in a study rather than because of a positive family history were utterly unprepared for the positive results. 29 Previous studies that examined the experiences of asymptomatic BRCA carriers from high-risk families showed that women were generally willing to accept the immediate physical and mental costs of their preventive actions if these provided a way to avoid future illness. 27,[30][31][32] The results of our study demonstrate that even women with no family history of cancer are willing to undergo physical and mental discomfort to avoid potential future illness.…”

Carrier screening in preconception consultation in primary care

“…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 .…”

“…Data were collected through semistructured interviews and focus groups using questions developed by drawing on published qualitative research in this area (Anido et al 2005(Anido et al , 2007 and our prior research outcomes (Metcalfe et al 2008;Metcalfe and Archibald 2012). Topics included general questions about awareness of genetic conditions, genetic screening, and FXS; perceptions of factors that might influence decision-making about carrier screening, perceived benefits, and concerns about carrier screening; views on whether population-based carrier screening should be available to all women; and when and where FXS carrier screening could be offered.…”

“…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.…”