Return of Genetic Results in the Familial Dilated Cardiomyopathy Research Project
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Return of Genetic Results in the Familial Dilated Cardiomyopathy Research Project Jill D. Siegfried & Ana Morales & Jessica D. Kushner & Emily Burkett & Jason Cowan & Ana Clara Mauro & Gordon S. Huggins & Duanxiang Li & Nadine Norton & Ray E. Hershberger
Received: 20 October 2011 / Accepted: 20 July 2012 / Published online: 11 August 2012 # National Society of Genetic Counselors, Inc. 2012
Abstract 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 J. D. Siegfried : A. Morales : A. C. Mauro : D. Li : N. Norton : R. E. Hershberger Cardiovascular Division, University of Miami Miller School of Medicine, Miami, FL, USA J. D. Kushner Division of Cardiovascular Medicine, Oregon Health & Science University, Portland, OR, USA E. Burkett Legacy Medical Group, Maternal-Fetal Medicine, Portland, OR, USA J. Cowan Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA
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. Keywords Dilated cardiomyopathy . Genetics . Family studies . Return of results . Genetic counseling
Introduction The Familial Dilated Cardiomyopathy (FDC) Research Project was undertaken in 1993 to identify and characterize the molecular genetic basis of FDC. The original design was to identify very large FDC families (Crispell et al. 1999) for G. S. Huggins MCRI Center for Translational Genomics, Tufts Medical Center and Tufts University School of Medicine, Boston, MA, USA J. D. Siegfried Ambry Genetics Corporation, Aliso Viejo, CA, USA R. E. Hershberger (*) Division of Human Genetics, Dorothy M. Davis Heart and Lung Research Institute, The Wexner Medical Center at The Ohio State University, Biomedical Research Tower, Rm 304, 460 West 12th Avenue, Columbus, OH 43210, USA e-mail: Ray.Hershberger@osu
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