Return of Genetic Results in the Familial Dilated Cardiomyopathy Research Project

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 th...

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Published inJournal 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
LanguageEnglish
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
Online AccessGet full text

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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.
AbstractList 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.
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. Adapted from the source document.
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.
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.
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 >1Â year ago, at least 23 individuals underwent CLIA confirmation testing for their familyâ[euro](TM)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.[PUBLICATION ABSTRACT]
Author Morales, Ana
Mauro, Ana Clara
Siegfried, Jill D.
Burkett, Emily
Cowan, Jason
Hershberger, Ray E.
Huggins, Gordon S.
Kushner, Jessica D.
Li, Duanxiang
Norton, Nadine
AuthorAffiliation 6 Ambry Genetics Corporation, Aliso Viejo, CA
2 Division of Cardiovascular Medicine, Oregon Health & Science University, Portland, OR
3 Legacy Medical Group, Maternal-Fetal Medicine, Portland, OR
1 Cardiovascular Division, University of Miami Miller School of Medicine, Miami, FL
5 MCRI Center for Translational Genomics, Tufts Medical Center and Tufts University School of Medicine, Boston, MA
4 Cincinnati Children's Hospital Medical Center, Cincinnati, OH
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  surname: Hershberger
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  email: Ray.Hershberger@osumc.edu
  organization: Cardiovascular Division, University of Miami Miller School of Medicine, Division of Human Genetics, Dorothy M. Davis Heart and Lung Research Institute, The Wexner Medical Center at The Ohio State University
BackLink https://www.ncbi.nlm.nih.gov/pubmed/22886719$$D View this record in MEDLINE/PubMed
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2013 National Society of Genetic Counselors, Inc.
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Issue 2
Keywords Family studies
Genetics
Genetic counseling
Dilated cardiomyopathy
Return of results
Language English
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PublicationCentury 2000
PublicationDate April 2013
PublicationDateYYYYMMDD 2013-04-01
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  year: 2013
  text: April 2013
PublicationDecade 2010
PublicationPlace New York
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PublicationSubtitle The official Journal of the National Society of Genetic Counselors
PublicationTitle Journal of genetic counseling
PublicationTitleAbbrev J Genet Counsel
PublicationTitleAlternate J Genet Couns
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Publisher Springer US
Blackwell Publishing Ltd
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Snippet The goal of the Familial Dilated Cardiomyopathy (FDC) Research Project, initiated in 1993, has been to identify and characterize FDC genetic cause. All...
Abstract The goal of the Familial Dilated Cardiomyopathy (FDC) Research Project, initiated in 1993, has been to identify and characterize FDC genetic cause....
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StartPage 164
SubjectTerms 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
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Title Return of Genetic Results in the Familial Dilated Cardiomyopathy Research Project
URI https://link.springer.com/article/10.1007/s10897-012-9532-8
https://onlinelibrary.wiley.com/doi/abs/10.1007%2Fs10897-012-9532-8
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https://pubmed.ncbi.nlm.nih.gov/PMC3815604
Volume 22
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