Families affected by Hirschsprung disease (HSCR) have opportunities to learn recurrence risks to their children from statistical genetic and empiric studies and, in some cases, prenatal genetic testing or preimplantation genetic diagnosis (PGD). This study aimed to assess interest in reproductive genetic information for HSCR and factors that predict this interest in two groups with elevated risk of having a child with HSCR.
Adult HSCR patients and parents of children with HSCR were surveyed about their interest in learning reproductive genetic information regarding HSCR through genetic counseling, prenatal testing, and PGD. Covariates assessed in this cross-sectional study included quality of life, illness perceptions, depressive symptoms, and adaptation to the condition. Bivariate analyses assessed differences between affected adults and parents. Logistic modeling was used to identify predictors of interest in reproductive genetic information.
Study participants (n = 368) reported high interest in reproductive genetic information through genetic counseling (yes = 60%/unsure = 16%), prenatal testing (yes = 59%/unsure = 16%), and PGD (yes = 43%/unsure = 18%). Illness perceptions differed between affected adults and parents, but perceived severity of HSCR was high among all participants (μ = 3.42, SD = 0.67, 4 point scale). Interest in reproductive information was associated with being an affected adult, not having a family history of HSCR, negative emotional representations, and adaptation to the condition.
Findings from this study support a desire among the surveyed HSCR patient groups to attend genetic counseling and be offered testing when available. Exploration of perceptions and experiences with the condition should be incorporated into the counseling to insure informed preference-based decision making.
*Genetic Counselor, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA
†Director, Center for Complex Disease Genetics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA
‡Senior Public Health Analyst, RTI International, Washington DC, USA.
Address correspondence and reprint requests to Courtney D. Berrios, Center for Pediatric Genomic Medicine, Children's Mercy Kansas City, 2420 Pershing Rd, Suite 100, Kansas City, MO 64108 (e-mail: firstname.lastname@example.org).
Received 26 September, 2018
Accepted 24 April, 2019
The authors report no conflicts of interest.
Conflicts of Interest and Source of Funding: The authors have no conflicts of interest to disclose. The study was funded by a grant from the Research Special Interest Group of the National Society of Genetic Counselors.
Authorship Contributions: Courtney Berrios, Aravinda Chakravarti, and Barbara Biesecker each contributed to the conception and design of the study. CB completed the data acquisition and analysis. CB, AC, and BB were all involved in interpretation of the data and in drafting and revising the manuscript. All authors have given final approval of the manuscript to be published and agree to be accountable for all aspects of the work
Supplemental digital content is available for this article. Direct URL citations appear in the printed text, and links to the digital files are provided in the HTML text of this article on the journal's Web site (www.jpgn.org).