Return of Genetic Results in the Familial Dilated Cardiomyopathy Research Project

• Published in: Journal of genetic counseling Vol. 22; no. 2; pp. 164 - 174
• Main Authors: Siegfried, Jill D., Morales, Ana, Kushner, Jessica D., Burkett, Emily, Cowan, Jason, Mauro, Ana Clara, Huggins, Gordon S., Li, Duanxiang, Norton, Nadine, Hershberger, Ray E.
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.04.2013; Blackwell Publishing Ltd
• Subjects: Biomedicine; Cardiomyopathy, Dilated - genetics; Cardiovascular disease; Clinical Psychology; Dilated cardiomyopathy; Doctors; Ethics; Family studies; Genes; Genetic Counseling; Genetic counselling; Genetic Predisposition to Disease; Genetic Testing; Genetics; Goals; Guidance; Gynecology; Human Genetics; Humans; Laboratories; Professional Issues; Public Health; Return of results; Risk factors; United States; Variants; United States; Family studies; Genetics; Genetic counseling; Dilated cardiomyopathy; Return of results
• ISSN: 1059-7700; 1573-3599
• DOI: 10.1007/s10897-012-9532-8

The goal of the Familial Dilated Cardiomyopathy (FDC) Research Project, initiated in 1993, has been to identify and characterize FDC genetic cause. All participating individuals have been consented for the return of genetic results, an important but challenging undertaking. Since the inception of the Project we have enrolled 606 probands, and 269 of these had 1670 family members also enrolled. Each subject was evaluated for idiopathic dilated cardiomyopathy (IDC) and pedigrees were categorized as familial or sporadic. The coding regions of 14 genes were resequenced in 311 to 324 probands in five studies. Ninety-two probands were found to carry nonsynonymous rare variants absent in controls, and with Clinical Laboratory Improvement Amendment of 1988 (CLIA) compliant protocols, relevant genetic results were returned to these probands and their consented relatives by study genetic counselors and physicians in 353 letters. In 10 of the 51 families that received results >1 year ago, at least 23 individuals underwent CLIA confirmation testing for their family’s rare variant. Return of genetic results has been successfully undertaken in the FDC Research Project. This report describes the methods utilized in the process of returning research results. We use this information as a springboard for providing guidance to other genetic research groups and proposing future directions in this arena.