Return of Genetic Results in the Familial Dilated Cardiomyopathy Research Project
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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.
KeywordsDilated cardiomyopathy Genetics Family studies Return of results Genetic counseling
We thank the more than 2000 probands and family members who have participated in our research program and the many professionals who have referred families to us, without whom this study would not be possible. We thank Katrina Abril and Chad Brodt for their assistance in the data preparation and analysis. This work was supported by an award from the National Institutes of Health (RO1-HL58626, Dr Hershberger).
The authors declare no conflicts of interest of any kind with this work.
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