Journal of Genetic Counseling

, Volume 22, Issue 2, pp 164–174

Return of Genetic Results in the Familial Dilated Cardiomyopathy Research Project

Authors

  • Jill D. Siegfried
    • Cardiovascular DivisionUniversity of Miami Miller School of Medicine
    • Ambry Genetics Corporation
  • Ana Morales
    • Cardiovascular DivisionUniversity of Miami Miller School of Medicine
  • Jessica D. Kushner
    • Division of Cardiovascular MedicineOregon Health & Science University
  • Emily Burkett
    • Legacy Medical GroupMaternal-Fetal Medicine
  • Jason Cowan
    • Cincinnati Children’s Hospital Medical Center
  • Ana Clara Mauro
    • Cardiovascular DivisionUniversity of Miami Miller School of Medicine
  • Gordon S. Huggins
    • MCRI Center for Translational GenomicsTufts Medical Center and Tufts University School of Medicine
  • Duanxiang Li
    • Cardiovascular DivisionUniversity of Miami Miller School of Medicine
  • Nadine Norton
    • Cardiovascular DivisionUniversity of Miami Miller School of Medicine
    • Cardiovascular DivisionUniversity of Miami Miller School of Medicine
    • Division of Human Genetics, Dorothy M. Davis Heart and Lung Research InstituteThe Wexner Medical Center at The Ohio State University
Professional Issues

DOI: 10.1007/s10897-012-9532-8

Cite this article as:
Siegfried, J.D., Morales, A., Kushner, J.D. et al. J Genet Counsel (2013) 22: 164. doi:10.1007/s10897-012-9532-8

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 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 cardiomyopathyGeneticsFamily studiesReturn of resultsGenetic counseling

Copyright information

© National Society of Genetic Counselors, Inc. 2012