Defining the critical components of informed consent for genetic testing

Clinical Genome CADRe Workgroup

doi:10.3390/jpm11121304

Defining the critical components of informed consent for genetic testing

Clinical Genome CADRe Workgroup

Medicine, Cardiology Division

Research output: Contribution to journal › Article › peer-review

12 Scopus citations

Abstract

Purpose: Informed consent for genetic testing has historically been acquired during pretest genetic counseling, without specific guidance defining which core concepts are required. Methods: The Clinical Genome Resource (ClinGen) Consent and Disclosure Recommendations Workgroup (CADRe) used an expert consensus process to identify the core concepts essential to consent for clinical genetic testing. A literature review identified 77 concepts that are included in informed consent for genetic tests. Twenty-five experts (9 medical geneticists, 8 genetic counselors, and 9 bioethicists) completed two rounds of surveys ranking concepts’ importance to informed consent. Results: The most highly ranked concepts included: (1) genetic testing is voluntary; (2) why is the test recommended and what does it test for?; (3) what results will be returned and to whom?; (4) are there other types of potential results, and what choices exist?; (5) how will the prognosis and management be impacted by results?; (6) what is the potential family impact?; (7) what are the test limitations and next steps?; and (8) potential risk of genetic discrimination and legal protections. Conclusion: Defining the core concepts necessary for informed consent for genetic testing provides a foundation for quality patient care across a variety of healthcare providers and clinical indications.

Original language	English (US)
Article number	1304
Journal	Journal of Personalized Medicine
Volume	11
Issue number	12
DOIs	https://doi.org/10.3390/jpm11121304
State	Published - Dec 2021

Funding

Funding: ClinGen is primarily funded by the National Human Genome Research Institute (NHGRI), through the following three grants: U41HG006834, U41HG009649, and U41HG009650. ClinGen also receives support for content curation from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), through the following three grants: U24HD093483, U24HD093486, and U24HD093487. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. ClinGen is primarily funded by the National Human Genome Research Institute (NHGRI), through the following three grants: U41HG006834, U41HG009649, and U41HG009650. ClinGen also receives support for content curation from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), through the following three grants: U24HD093483, U24HD093486, and U24HD093487. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

Keywords

Genetic counseling
Genetic testing
Informed consent

ASJC Scopus subject areas

Medicine (miscellaneous)

Access to Document

10.3390/jpm11121304

Cite this

@article{f1d2f78e55454758a0a5889ef2aa8dee,

title = "Defining the critical components of informed consent for genetic testing",

abstract = "Purpose: Informed consent for genetic testing has historically been acquired during pretest genetic counseling, without specific guidance defining which core concepts are required. Methods: The Clinical Genome Resource (ClinGen) Consent and Disclosure Recommendations Workgroup (CADRe) used an expert consensus process to identify the core concepts essential to consent for clinical genetic testing. A literature review identified 77 concepts that are included in informed consent for genetic tests. Twenty-five experts (9 medical geneticists, 8 genetic counselors, and 9 bioethicists) completed two rounds of surveys ranking concepts{\textquoteright} importance to informed consent. Results: The most highly ranked concepts included: (1) genetic testing is voluntary; (2) why is the test recommended and what does it test for?; (3) what results will be returned and to whom?; (4) are there other types of potential results, and what choices exist?; (5) how will the prognosis and management be impacted by results?; (6) what is the potential family impact?; (7) what are the test limitations and next steps?; and (8) potential risk of genetic discrimination and legal protections. Conclusion: Defining the core concepts necessary for informed consent for genetic testing provides a foundation for quality patient care across a variety of healthcare providers and clinical indications.",

keywords = "Genetic counseling, Genetic testing, Informed consent",

author = "{Clinical Genome CADRe Workgroup} and Ormond, {Kelly E.} and Borensztein, {Maia J.} and Hallquist, {Miranda L.G.} and Buchanan, {Adam H.} and Faucett, {William Andrew} and Peay, {Holly L.} and Smith, {Maureen E.} and Tricou, {Eric P.} and Uhlmann, {Wendy R.} and Wain, {Karen E.} and Coughlin, {Curtis R.}",

note = "Publisher Copyright: {\textcopyright} 2021 by the authors. Licensee MDPI, Basel, Switzerland.",

year = "2021",

month = dec,

doi = "10.3390/jpm11121304",

language = "English (US)",

volume = "11",

journal = "Journal of Personalized Medicine",

issn = "2075-4426",

publisher = "Multidisciplinary Digital Publishing Institute (MDPI)",

number = "12",

}

TY - JOUR

T1 - Defining the critical components of informed consent for genetic testing

AU - Clinical Genome CADRe Workgroup

AU - Ormond, Kelly E.

AU - Borensztein, Maia J.

AU - Hallquist, Miranda L.G.

AU - Buchanan, Adam H.

AU - Faucett, William Andrew

AU - Peay, Holly L.

AU - Smith, Maureen E.

AU - Tricou, Eric P.

AU - Uhlmann, Wendy R.

AU - Wain, Karen E.

AU - Coughlin, Curtis R.

PY - 2021/12

Y1 - 2021/12

N2 - Purpose: Informed consent for genetic testing has historically been acquired during pretest genetic counseling, without specific guidance defining which core concepts are required. Methods: The Clinical Genome Resource (ClinGen) Consent and Disclosure Recommendations Workgroup (CADRe) used an expert consensus process to identify the core concepts essential to consent for clinical genetic testing. A literature review identified 77 concepts that are included in informed consent for genetic tests. Twenty-five experts (9 medical geneticists, 8 genetic counselors, and 9 bioethicists) completed two rounds of surveys ranking concepts’ importance to informed consent. Results: The most highly ranked concepts included: (1) genetic testing is voluntary; (2) why is the test recommended and what does it test for?; (3) what results will be returned and to whom?; (4) are there other types of potential results, and what choices exist?; (5) how will the prognosis and management be impacted by results?; (6) what is the potential family impact?; (7) what are the test limitations and next steps?; and (8) potential risk of genetic discrimination and legal protections. Conclusion: Defining the core concepts necessary for informed consent for genetic testing provides a foundation for quality patient care across a variety of healthcare providers and clinical indications.

AB - Purpose: Informed consent for genetic testing has historically been acquired during pretest genetic counseling, without specific guidance defining which core concepts are required. Methods: The Clinical Genome Resource (ClinGen) Consent and Disclosure Recommendations Workgroup (CADRe) used an expert consensus process to identify the core concepts essential to consent for clinical genetic testing. A literature review identified 77 concepts that are included in informed consent for genetic tests. Twenty-five experts (9 medical geneticists, 8 genetic counselors, and 9 bioethicists) completed two rounds of surveys ranking concepts’ importance to informed consent. Results: The most highly ranked concepts included: (1) genetic testing is voluntary; (2) why is the test recommended and what does it test for?; (3) what results will be returned and to whom?; (4) are there other types of potential results, and what choices exist?; (5) how will the prognosis and management be impacted by results?; (6) what is the potential family impact?; (7) what are the test limitations and next steps?; and (8) potential risk of genetic discrimination and legal protections. Conclusion: Defining the core concepts necessary for informed consent for genetic testing provides a foundation for quality patient care across a variety of healthcare providers and clinical indications.

KW - Genetic counseling

KW - Genetic testing

KW - Informed consent

UR - http://www.scopus.com/inward/record.url?scp=85121600058&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85121600058&partnerID=8YFLogxK

U2 - 10.3390/jpm11121304

DO - 10.3390/jpm11121304

M3 - Article

C2 - 34945775

AN - SCOPUS:85121600058

SN - 2075-4426

VL - 11

JO - Journal of Personalized Medicine

JF - Journal of Personalized Medicine

IS - 12

M1 - 1304

ER -

Defining the critical components of informed consent for genetic testing

Abstract

Funding

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this