Lessons Learned From A Study Of Genomics-Based Carrier Screening For Reproductive Decision Making

Abstract

Genomics-based carrier screening is one of many opportunities to use genomic information to inform medical decision making, but clinicians, health care delivery systems, and payers need to determine whether to offer screening and how to do so in an efficient, ethical way. To shed light on this issue, we conducted a study in the period 2014-17 to inform the design of clinical screening programs and guide further health services research. Many of our results have been published elsewhere; this article summarizes the lessons we learned from that study and offers policy insights. Our experience can inform understanding of the potential impact of expanded carrier screening services on health system workflows and workforces-impacts that depend on the details of the screening approach. We found limited patient or health system harms from expanded screening. We also found that some patients valued the information they learned from the process. Future policy discussions should consider the value of offering such expanded carrier screening in health delivery systems with limited resources.

The evolving landscape of expanded carrier screening: challenges and opportunities

“…In that study, individuals who received expanded, genomics-based screening neither used more health-care services nor experienced more anxiety and depression than did those who received usual care. 67 These concerns align with the results of a survey of 272 Australian students in Jewish high schools showing that those who received an expanded screening panel had lower knowledge levels than those who had single-disease screening. 68 Taken together, these data suggest that expanded carrier screening may require the development of novel tools to support shared decision making and adequate understanding of results, but that concerns about psychosocial harms may be overstated.…”

“A perfect society”— Swedish policymakers’ ethical and social views on preconception expanded carrier screening

“…In relation to preconception ECS, evidence is still accumulating because it is an emerging field (Benn et al 2014; Ready et al 2012; Wienke et al 2014; Wilfond et al 2018). The need for more research has been endorsed by professional organizations and providers (Edwards et al 2015; Henneman et al 2016; Lazarin and Haque 2016) and was reiterated by policymakers in our study.…”

“…It has been stated that evidence-based healthcare policymaking may incorporate empirical evidence in the form of research both quantitative and qualitative, as well as other forms of evidence, for instance, expert opinions and users’ accounts or experience (Brownson et al 2009 ; Choi et al 2005 ; McQueen 2001 ). In relation to preconception ECS, evidence is still accumulating because it is an emerging field (Benn et al 2014 ; Ready et al 2012 ; Wienke et al 2014 ; Wilfond et al 2018 ). The need for more research has been endorsed by professional organizations and providers (Edwards et al 2015 ; Henneman et al 2016 ; Lazarin and Haque 2016 ) and was reiterated by policymakers in our study.…”

Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide

“…One concern is that expanded carrier screening may confront prospective parents with complex decisions and dilemmas (van der Hout et al 2017 ). On the societal level, the proportionality of large-scale screening implementation needs to be assessed: Does the value of expanded carrier screening justify the use of limited health system resources (Wilfond et al 2018 )? Concerns also exist regarding the possible impact of expanded carrier screening on people affected by genetic conditions, including a reduction of societal support, medical expertise and research funding associated with the declining numbers of people born with specified genetic conditions (Boardman and Hale 2018 ).…”