“I'm Healthy, It's Not Going To Be Me”: Exploring experiences of carriers identified through a population reproductive genetic carrier screening panel in Australia

Abstract

Advancing genetic testing technologies mean that population-based carrier screening for multiple inherited conditions is now available. As the number of genetic conditions being screened increases, there is a need for research into how people experience these screening programs. This research aimed to explore how women experience simultaneous carrier screening for three inherited conditions: cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS). A qualitative approach was adopted using in-depth semi-structured interviews to explore the experiences of ten female participants: five SMA carriers, three CF carriers, and two FXS premutation carriers. Eight participants were pregnant when offered screening by their general practitioner or obstetrician and the decision to have screening was described as straightforward. Participants reported experiencing emotional responses such as anxiety and stress while waiting for either their partner's carrier screen result (CF or SMA carriers) or the pregnancy's CVS result (FXS carrier) and sought additional information about the relevant condition during this time. Most participants were in favor of population carrier screening for these conditions, preferably prior to conception. Genetic counselors played an essential role in supporting couples after they received a carrier result given the variable consent processes undertaken when screening was offered. Further research should focus on the development of reliable online information tailored to people receiving carrier results and strategies for raising awareness of the availability of population carrier screening within the community. © 2016 Wiley Periodicals, Inc.

Patient actions and reactions after receiving negative results from expanded carrier screening

“…While our interview data show that worry or anxiety may be briefly heightened for some patients while they wait to receive results, they also suggest that those are temporary reactions that dissipate with time. This finding is similar to Beard et al's finding that pregnant women with a positive carrier finding experienced anxiety and imagined the “worst case scenario” of an affected pregnancy, but that this anxiety subsided after their partner received a low‐risk result . These findings also align with prior studies showing minimal long‐term psychosocial harms from receiving negative results in single‐disease carrier screening, even after some heightened anxiety while waiting for results .…”

“…However, it is important to note that all the participants in our study were part of an integrated health care system and had access to genetic counselors as part of the NextGen study or via self‐referral for clinical care, whereas many patients across the general patient population will not have similar access. Thus, further study is needed to identify gaps in information and understanding across a broader population and to ensure that all patients have access to trustworthy and accurate information …”

It takes two: uptake of carrier screening among male reproductive partners

“…There are many facets to evaluating the clinical utility of carrier screening in routine settings. While previous data exists exploring carrier frequency, patient uptake and attitudes regarding carrier screening, little data exists detailing uptake behaviors of the male partner, which is essential to understanding the true clinical utility of carrier screening. Therefore, this study aimed to describe the uptake of carrier screening by male partners of female patients identified to carry an autosomal recessive genetic disorder and to identify potential factors associated with uptake.…”

“I didn’t take it too seriously because I’d just never heard of it”: Experiential knowledge and genetic screening for thalassaemia in the UK

“…Experiential knowledge brought thalassaemia out of the realm of the hypothetical and abstract and into the everyday lives of these participants in a way that genetic risk statistics and diagnoses could not. Research into the reactions of members of the general population to carrier screening have highlighted the difficulties in absorbing and relating to medical information about a condition that one has not directly encountered (Archibald et al, ; Beard et al, ). As such, bringing genetic disease “into the worlds” of the general public who largely view it as the domain of small groups of affected families has been identified as a key challenge in the successful implementation of carrier screening programmes (McClaren et al, ).…”

“…One persistent challenge identified in the literature relates to the receptivity of the general population to the notion of their potential carrier status (Archibald et al, ; Beard, Amor, Pietro, & Archibald, ; Ioannou, Delatycki, Massie, Hodgson, & Lewis, ; McClaren, Delatycki, Collins, Metcalfe, & Aitken, ). As NHS carrier testing has typically only been reserved for families already known to be affected by genetic disease, those undergoing carrier testing have usually approached the decision in the context of their prior knowledge of the condition—a factor known to have a significant influence on reproductive decisions and attitudes (Baillergeau & Duyvendak, ; Etcehgary et al, ; Kay & Kingston, ; Raspberry & Skinner, ; Ziebland & Herxheimer, ).…”