Returning integrated genomic risk and clinical recommendations: The eMERGE study

eMERGE Consortium

doi:10.1016/j.gim.2023.100006

Returning integrated genomic risk and clinical recommendations: The eMERGE study

eMERGE Consortium

Mailman School of Public Health

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

35 Citations (Scopus)

Abstract

Purpose: Assessing the risk of common, complex diseases requires consideration of clinical risk factors as well as monogenic and polygenic risks, which in turn may be reflected in family history. Returning risks to individuals and providers may influence preventive care or use of prophylactic therapies for those individuals at high genetic risk. Methods: To enable integrated genetic risk assessment, the eMERGE (electronic MEdical Records and GEnomics) network is enrolling 25,000 diverse individuals in a prospective cohort study across 10 sites. The network developed methods to return cross-ancestry polygenic risk scores, monogenic risks, family history, and clinical risk assessments via a genome-informed risk assessment (GIRA) report and will assess uptake of care recommendations after return of results. Results: GIRAs include summary care recommendations for 11 conditions, education pages, and clinical laboratory reports. The return of high-risk GIRA to individuals and providers includes guidelines for care and lifestyle recommendations. Assembling the GIRA required infrastructure and workflows for ingesting and presenting content from multiple sources. Recruitment began in February 2022. Conclusion: Return of a novel report for communicating monogenic, polygenic, and family history-based risk factors will inform the benefits of integrated genetic risk assessment for routine health care.

Original language	English
Article number	100006
Journal	Genetics in Medicine
Volume	25
Issue number	4
DOIs	https://doi.org/10.1016/j.gim.2023.100006
Publication status	Published - Apr 2023

Bibliographical note

Publisher Copyright:
© 2023 The Authors

Funding

The eMERGE Genomic Risk Assessment Network is funded by the National Human Genome Research Institute ( NHGRI ) through the following grants: U01HG011172 ( Cincinnati Children's Hospital Medical Center ), U01HG011175 ( Children's Hospital of Philadelphia ), U01HG008680 ( Columbia University ), U01HG011176 ( Icahn School of Medicine at Mount Sinai ), U01HG008685 ( Mass General Brigham ), U01HG006379 ( Mayo Clinic ), U01HG011169 ( Northwestern University ), U01HG011167 ( University of Alabama at Birmingham ), U01HG008657 ( University of Washington ), U01HG011181 ( Vanderbilt University Medical Center ), and U01HG011166 ( Vanderbilt University Medical Center serving as the Coordinating Center ).

Funders	Funder number
National Human Genome Research Institute	U01HG011172
Mayo Clinic	U01HG011169
Children's Hospital of Philadelphia	U01HG008680
Columbia University	U01HG011176
Northwestern University	U01HG008657, U01HG011167
Cincinnati Children's Hospital Medical Center	U01HG011175
Icahn School of Medicine at Mount Sinai	U01HG008685, U01HG006379
University of Washington	U01HG011181
Vanderbilt University Medical Center	U01HG011166

ASJC Scopus Subject Areas

Genetics(clinical)

Access to Document

10.1016/j.gim.2023.100006

Cite this

@article{ed0bc4b52cfd4928b038ccb4ec3a4e90,

title = "Returning integrated genomic risk and clinical recommendations: The eMERGE study",

abstract = "Purpose: Assessing the risk of common, complex diseases requires consideration of clinical risk factors as well as monogenic and polygenic risks, which in turn may be reflected in family history. Returning risks to individuals and providers may influence preventive care or use of prophylactic therapies for those individuals at high genetic risk. Methods: To enable integrated genetic risk assessment, the eMERGE (electronic MEdical Records and GEnomics) network is enrolling 25,000 diverse individuals in a prospective cohort study across 10 sites. The network developed methods to return cross-ancestry polygenic risk scores, monogenic risks, family history, and clinical risk assessments via a genome-informed risk assessment (GIRA) report and will assess uptake of care recommendations after return of results. Results: GIRAs include summary care recommendations for 11 conditions, education pages, and clinical laboratory reports. The return of high-risk GIRA to individuals and providers includes guidelines for care and lifestyle recommendations. Assembling the GIRA required infrastructure and workflows for ingesting and presenting content from multiple sources. Recruitment began in February 2022. Conclusion: Return of a novel report for communicating monogenic, polygenic, and family history-based risk factors will inform the benefits of integrated genetic risk assessment for routine health care.",

author = "{eMERGE Consortium} and Linder, {Jodell E.} and Aimee Allworth and Bland, {Harris T.} and Caraballo, {Pedro J.} and Chisholm, {Rex L.} and Clayton, {Ellen Wright} and Crosslin, {David R.} and Ozan Dikilitas and Alanna DiVietro and Esplin, {Edward D.} and Sophie Forman and Freimuth, {Robert R.} and Gordon, {Adam S.} and Richard Green and Harden, {Maegan V.} and Holm, {Ingrid A.} and Jarvik, {Gail P.} and Karlson, {Elizabeth W.} and Sofia Labrecque and Lennon, {Niall J.} and Limdi, {Nita A.} and Mittendorf, {Kathleen F.} and Murphy, {Shawn N.} and Lori Orlando and Prows, {Cynthia A.} and Rasmussen, {Luke V.} and Laura Rasmussen-Torvik and Robb Rowley and Sawicki, {Konrad Teodor} and Tara Schmidlen and Shannon Terek and David Veenstra and {Velez Edwards}, {Digna R.} and Devin Absher and Abul-Husn, {Noura S.} and Jorge Alsip and Hana Bangash and Mark Beasley and Below, {Jennifer E.} and Berner, {Eta S.} and James Booth and Chung, {Wendy K.} and Cimino, {James J.} and John Connolly and Patrick Davis and Beth Devine and Fullerton, {Stephanie M.} and Candace Guiducci and Habrat, {Melissa L.} and Iuliana Ionita-Laza",

note = "Publisher Copyright: {\textcopyright} 2023 The Authors",

year = "2023",

month = apr,

doi = "10.1016/j.gim.2023.100006",

language = "English",

volume = "25",

journal = "Genetics in Medicine",

issn = "1098-3600",

publisher = "Lippincott Williams and Wilkins",

number = "4",

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T1 - Returning integrated genomic risk and clinical recommendations

T2 - The eMERGE study

AU - eMERGE Consortium

AU - Linder, Jodell E.

AU - Allworth, Aimee

AU - Bland, Harris T.

AU - Caraballo, Pedro J.

AU - Chisholm, Rex L.

AU - Clayton, Ellen Wright

AU - Crosslin, David R.

AU - Dikilitas, Ozan

AU - DiVietro, Alanna

AU - Esplin, Edward D.

AU - Forman, Sophie

AU - Freimuth, Robert R.

AU - Gordon, Adam S.

AU - Green, Richard

AU - Harden, Maegan V.

AU - Holm, Ingrid A.

AU - Jarvik, Gail P.

AU - Karlson, Elizabeth W.

AU - Labrecque, Sofia

AU - Lennon, Niall J.

AU - Limdi, Nita A.

AU - Mittendorf, Kathleen F.

AU - Murphy, Shawn N.

AU - Orlando, Lori

AU - Prows, Cynthia A.

AU - Rasmussen, Luke V.

AU - Rasmussen-Torvik, Laura

AU - Rowley, Robb

AU - Sawicki, Konrad Teodor

AU - Schmidlen, Tara

AU - Terek, Shannon

AU - Veenstra, David

AU - Velez Edwards, Digna R.

AU - Absher, Devin

AU - Abul-Husn, Noura S.

AU - Alsip, Jorge

AU - Bangash, Hana

AU - Beasley, Mark

AU - Below, Jennifer E.

AU - Berner, Eta S.

AU - Booth, James

AU - Chung, Wendy K.

AU - Cimino, James J.

AU - Connolly, John

AU - Davis, Patrick

AU - Devine, Beth

AU - Fullerton, Stephanie M.

AU - Guiducci, Candace

AU - Habrat, Melissa L.

AU - Ionita-Laza, Iuliana

PY - 2023/4

Y1 - 2023/4

N2 - Purpose: Assessing the risk of common, complex diseases requires consideration of clinical risk factors as well as monogenic and polygenic risks, which in turn may be reflected in family history. Returning risks to individuals and providers may influence preventive care or use of prophylactic therapies for those individuals at high genetic risk. Methods: To enable integrated genetic risk assessment, the eMERGE (electronic MEdical Records and GEnomics) network is enrolling 25,000 diverse individuals in a prospective cohort study across 10 sites. The network developed methods to return cross-ancestry polygenic risk scores, monogenic risks, family history, and clinical risk assessments via a genome-informed risk assessment (GIRA) report and will assess uptake of care recommendations after return of results. Results: GIRAs include summary care recommendations for 11 conditions, education pages, and clinical laboratory reports. The return of high-risk GIRA to individuals and providers includes guidelines for care and lifestyle recommendations. Assembling the GIRA required infrastructure and workflows for ingesting and presenting content from multiple sources. Recruitment began in February 2022. Conclusion: Return of a novel report for communicating monogenic, polygenic, and family history-based risk factors will inform the benefits of integrated genetic risk assessment for routine health care.

AB - Purpose: Assessing the risk of common, complex diseases requires consideration of clinical risk factors as well as monogenic and polygenic risks, which in turn may be reflected in family history. Returning risks to individuals and providers may influence preventive care or use of prophylactic therapies for those individuals at high genetic risk. Methods: To enable integrated genetic risk assessment, the eMERGE (electronic MEdical Records and GEnomics) network is enrolling 25,000 diverse individuals in a prospective cohort study across 10 sites. The network developed methods to return cross-ancestry polygenic risk scores, monogenic risks, family history, and clinical risk assessments via a genome-informed risk assessment (GIRA) report and will assess uptake of care recommendations after return of results. Results: GIRAs include summary care recommendations for 11 conditions, education pages, and clinical laboratory reports. The return of high-risk GIRA to individuals and providers includes guidelines for care and lifestyle recommendations. Assembling the GIRA required infrastructure and workflows for ingesting and presenting content from multiple sources. Recruitment began in February 2022. Conclusion: Return of a novel report for communicating monogenic, polygenic, and family history-based risk factors will inform the benefits of integrated genetic risk assessment for routine health care.

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Returning integrated genomic risk and clinical recommendations: The eMERGE study

Abstract

Bibliographical note

Funding

ASJC Scopus Subject Areas

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