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

Research output: Contribution to journalArticle

8 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)164-174
Number of pages11
JournalJournal of Genetic Counseling
Volume22
Issue number2
DOIs
StatePublished - Apr 2013
Externally publishedYes

Fingerprint

Research
Genetic Research
Dilated Cardiomyopathy
Pedigree
Physicians
Familial dilated cardiomyopathy
Genes
Direction compound
Counselors

Keywords

  • Dilated cardiomyopathy
  • Family studies
  • Genetic counseling
  • Genetics
  • Return of results

ASJC Scopus subject areas

  • Genetics(clinical)
  • Medicine(all)

Cite this

Siegfried, J. D., Morales, A., Kushner, J. D., Burkett, E., Cowan, J., Mauro, A. C., ... Hershberger, R. E. (2013). Return of genetic results in the familial dilated cardiomyopathy research project. Journal of Genetic Counseling, 22(2), 164-174. https://doi.org/10.1007/s10897-012-9532-8

Return of genetic results in the familial dilated cardiomyopathy research project. / 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.

In: Journal of Genetic Counseling, Vol. 22, No. 2, 04.2013, p. 164-174.

Research output: Contribution to journalArticle

Siegfried, JD, Morales, A, Kushner, JD, Burkett, E, Cowan, J, Mauro, AC, Huggins, GS, Li, D, Norton, N & Hershberger, RE 2013, 'Return of genetic results in the familial dilated cardiomyopathy research project', Journal of Genetic Counseling, vol. 22, no. 2, pp. 164-174. https://doi.org/10.1007/s10897-012-9532-8
Siegfried JD, Morales A, Kushner JD, Burkett E, Cowan J, Mauro AC et al. Return of genetic results in the familial dilated cardiomyopathy research project. Journal of Genetic Counseling. 2013 Apr;22(2):164-174. https://doi.org/10.1007/s10897-012-9532-8
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. / Return of genetic results in the familial dilated cardiomyopathy research project. In: Journal of Genetic Counseling. 2013 ; Vol. 22, No. 2. pp. 164-174.
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