Reproductive Decision Making and Genetic Predisposition to Sudden Cardiac Death

Abstract

Background With current genetic technology, it is possible to detect mutations associated with long QT syndrome (LQTS), a hereditary cardiac arrhythmia syndrome. As a result, prospective parents diagnosed with LQTS will have to decide whether or not to prevent its transmission to future generations, either by not procreating or through the use of assisted reproductive technologies or prenatal testing. This paper explores how a hereditary predisposition to sudden cardiac death can influence reproductive decision making. Methods This study draws from interviews and focus groups with individuals who have personal or family histories of cardiac arrhythmia or sudden death. A keyword search was conducted on interview transcripts to identify quotes for analysis. Results Participants expressed complex, often ambivalent attitudes about the prospect of having a child with a predisposition to sudden cardiac death. Their comments reveal conflicting understandings of genetic responsibility and reflect the variable effects of personal experience on reproductive decision making. This paper compares attitudes towards LQTS and other genetic conditions in analyzing the themes that emerged in interviews and focus groups. Conclusions The “disability critique” of prenatal testing should be applied carefully to a context of genetic predisposition to sudden cardiac death in order to understand reproductive decision making. Firsthand experience with the condition, among other factors, can weigh heavily in those decisions.

Attitudes of people with inherited retinal conditions toward gene editing technology

“…Studies of views toward prenatal testing among people with genetic conditions and disabilities have found them to vary both between and within disability groups (e.g. Ahmed et al, 2015;Barlevy, Wasserman, Stolerman, Erskine, & Dolan, 2012;Chen & Schiffman, 2000;Middleton, Hewison, & Mueller, 1998). These attitudes are influenced by personal attitudes about and experiences with disability, as well as disability identity and involvement with disability culture and community 1 (Boardman & Hale, 2018;Boardman, Young, & Griffiths, 2018;Gollust, Thompson, Gooding, & Biesecker, 2003;Roadhouse et al, 2018;Stern et al, 2002).…”

Psychological Stress Associated with Cardiogenetic Conditions

“… Published reports that have analyzed different themes from this research team include: Barlevy et al , who addressed reproductive decision-making in the context of genetic predispositions to sudden cardiac death [18]; Cohen et al , who discussed special considerations for genetic testing with adolescents [19]; Erskine et al , who described the advantages of an interdisciplinary approach to personalized medicine [20]; Linder et al , who identified major concerns associated with an implantable cardioverter-defibrillator (ICD) [21]; and Erskine et al , who analyzed motivations to pursue genetic testing in individuals with a personal or family history of cardiac events or sudden cardiac death [22]. The entire data set is available from the corresponding author.…”

Translating Advances in Cardiogenetics Into Effective Clinical Practice

“… Authors’ Note Four previously published reports have used brief examples of preliminary data from the same database. Barlevy, Wasserman, Stolerman, Erskine, and Dolan (2013) addressed reproductive decision making in the context of genetic predisposition to sudden cardiac death. Cohen, Stolerman, Walsh, Wasserman, and Dolan (2013) discussed special considerations for genetic testing with adolescents.…”