Returning integrated genomic risk and clinical recommendations: The eMERGE study

Jodell E. Linder; Aimee Allworth; Harris T. Bland; Pedro J. Caraballo; Rex L. Chisholm; Ellen Wright Clayton; David R. Crosslin; Ozan Dikilitas; Alanna DiVietro; Edward D. Esplin; Sophie Forman; Robert R. Freimuth; Adam S. Gordon; Richard Green; Maegan V. Harden; Ingrid A. Holm; Gail P. Jarvik; Elizabeth W. Karlson; Sofia Labrecque; Niall J. Lennon; Nita A. Limdi; Kathleen F. Mittendorf; Shawn N. Murphy; Lori Orlando; Cynthia A. Prows; Luke V. Rasmussen; Laura Rasmussen-Torvik; Robb Rowley; Konrad Teodor Sawicki; Tara Schmidlen; Shannon Terek; David Veenstra; Digna R. Velez Edwards; Devin Absher; Noura S. Abul-Husn; Jorge Alsip; Hana Bangash; Mark Beasley; Jennifer E. Below; Eta S. Berner; James Booth; Wendy K. Chung; James J. Cimino; John Connolly; Patrick Davis; Beth Devine; Stephanie M. Fullerton; Candace Guiducci; Melissa L. Habrat; Heather Hain; Hakon Hakonarson; Margaret Harr; Eden Haverfield; Valentina Hernandez; Christin Hoell; Martha Horike-Pyne; George Hripcsak; Marguerite R. Irvin; Christopher Kachulis; Dean Karavite; Eimear E. Kenny; Atlas Khan; Krzysztof Kiryluk; Bruce Korf; Leah Kottyan; Iftikhar J. Kullo; Katie Larkin; Cong Liu; Edyta Malolepsza; Teri A. Manolio; Thomas May; Elizabeth M. McNally; Frank Mentch; Alexandra Miller; Sean D. Mooney; Priyanka Murali; Brenda Mutai; Naveen Muthu; Bahram Namjou; Emma F. Perez; Megan J. Puckelwartz; Tejinder Rakhra-Burris; Dan M. Roden; Elisabeth A. Rosenthal; Seyedmohammad Saadatagah; Maya Sabatello; Dan J. Schaid; Baergen Schultz; Lynn Seabolt; Gabriel Q. Shaibi; Richard R. Sharp; Brian Shirts; Maureen E. Smith; Jordan W. Smoller; Rene Sterling; Sabrina A. Suckiel; Jeritt Thayer; Hemant K. Tiwari; Susan B. Trinidad; Theresa Walunas; Wei-Qi Wei; Quinn S. Wells; Chunhua Weng; Georgia L. Wiesner; Ken Wiley; Adam Gordon; Agboade Sobowale; Akshar Patel; Alanna Strong; Alborz Sherafati; Alborz Sherfati; Alex Bick; Alka Chandel; Alyssa Rosenthal; Amit Khera; Amy Kontorovich; Andrew Beck; Angelica Espinoza; Anna Lewis; Anya Prince; Ayuko Iverson; Bahram Namjou Khales; Barbara Benoit; Becca Hernan; Ben Kallman; Ben Kerman; Ben Shoemaker; Benjamin Satterfield; Bethany Etheridge; Blake Goff; Bob Freimuth; Bob Grundmeier; Brenae Collier; Brett Harnett; Brian Chang; Brian Piening; Brittney Davis; Candace Patterson; Carmen Demetriou; Casey Ta; Catherine Hammack; Catrina Nelson; Caytie Gascoigne; Chad Dorn; Chad Moretz; Christie Hoell; Christine Cowles; Christoph Lange; Cole Brokamp; Courtney Scherr; Crystal Gonzalez; Cynthia Ramirez; Daichi Shimbo; Daniel Schaid; Dave Kaufman; David Kochan; Davinder Singh; Debbie Abrams; Digna Velez Edwards; Eduardo Morales; Ehsan Alipour; Eliza Duvall; Elizabeth McNally; Elizabeth Bhoj; Elizabeth Cohn; Elizabeth Hibler; Emily Chesnut; Emily DeFranco; Emily Gallagher; Emily Soper; Erin Cash; Fei Wang; Firas Wehbe; Francisco Ricci; Gabriel Shaibi; George Hahn; Gillian Belbin; Gio Davogustto; Girish Nadkarni; Haijun Qiu; Hannah Beasley; Hao Liu; Heide Aungst; Hillary Duckham; Hope Thomas; Iftikhar Kullo; Isabelle Allen; Iuliana Ionita-Laza; Jacklyn Hellwege; Jacob Petrzelka; Jacqueline Odgis; Jahnavi Narula; Jalpa Patel; James Meigs; James Snyder; Janet Olson; Janet Zahner; Jeff Pennington; Jen Pacheco; Jennifer Morse; Jeremy Corsmo; Jingheng Chen; Jocelyn Fournier; Jodell Jackson; Joe Glessner; Joel Pacyna; Johanna Smith; John Lynch; John Shelley; Jonathan Mosley; Jordan Nestor; Joseph Kannry; Joseph Sutton; Josh F. Peterson; Joshua Smith; Julia Galasso; Julia Smith; Julia Wynn; Justin Gundelach; Justin Starren; Karmel Choi; Katherine Anderson; Katherine Bonini; Kathleen Leppig; Kathleen Muenzen; Kelsey Stuttgen; Kenny Nguyen; Kevin Dufendach; Kiley Atkins; Kristjan Norland; Laura Beskow; Li Hsu; Lifeng Tian; Lisa Mahanta; Lisa Martin; Lisa Wang; Lizbeth Gomez; Lorenzo Thompson; Lucas Richter; Lynn Petukhova; O

doi:10.1016/j.gim.2023.100006

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Returning integrated genomic risk and clinical recommendations: The eMERGE study

Journal article

Peer reviewed

Returning integrated genomic risk and clinical recommendations: The eMERGE study

Jodell E. Linder, Aimee Allworth, Harris T. Bland, Pedro J. Caraballo, Rex L. Chisholm, Ellen Wright Clayton, David R. Crosslin, Ozan Dikilitas, Alanna DiVietro, Edward D. Esplin, …

Genetics in Medicine, Vol.25(4)

2023

DOI: https://doi.org/10.1016/j.gim.2023.100006

Abstract

Genome

Genomics

Humans

Prospective Studies

Risk Assessment

Risk Factors

adult

Article

asthma

atrial fibrillation

breast cancer

chronic kidney failure

cohort analysis

colorectal cancer

electronic medical record

family history

female

genetic risk

genetic risk score

genetic variability

genotyping

human

hypercholesterolemia

insulin dependent diabetes mellitus

ischemic heart disease

male

national health organization

non insulin dependent diabetes mellitus

obesity

prospective study

prostate cancer

genome

genomics

procedures

risk assessment

risk factor

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. © 2023 The Authors

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Title: Returning integrated genomic risk and clinical recommendations: The eMERGE study
Creators: Jodell E. Linder - Vanderbilt University Medical Center
Aimee Allworth - University of Washington Medical Center
Harris T. Bland - Vanderbilt University Medical Center
Pedro J. Caraballo - Mayo Clinic in Florida
Rex L. Chisholm - Northwestern University
Ellen Wright Clayton - Vanderbilt University Medical Center
David R. Crosslin - Tulane University
Ozan Dikilitas - Mayo Clinic in Arizona
Alanna DiVietro - Vanderbilt University Medical Center
Edward D. Esplin - Invitae
Sophie Forman - Vanderbilt University Medical Center
Robert R. Freimuth - Mayo Clinic in Florida
Adam S. Gordon - Northwestern University
Richard Green - University of Washington Medical Center
Maegan V. Harden - Broad Institute
Ingrid A. Holm - Dana-Farber/Boston Children's Cancer and Blood Disorders Center
Gail P. Jarvik - University of Washington Medical Center
Elizabeth W. Karlson - Brigham and Women's Hospital
Sofia Labrecque - Vanderbilt University Medical Center
Niall J. Lennon - Broad Institute
Nita A. Limdi - University of Alabama at Birmingham
Kathleen F. Mittendorf - Vanderbilt University Medical Center
Shawn N. Murphy - Massachusetts General Hospital
Lori Orlando - Duke University
Cynthia A. Prows - Cincinnati Children's Hospital Medical Center
Luke V. Rasmussen - Northwestern University
Laura Rasmussen-Torvik - Northwestern University
Robb Rowley - National Human Genome Research Institute
Konrad Teodor Sawicki - Northwestern University
Tara Schmidlen - Invitae
Shannon Terek - Children's Hospital of Philadelphia
David Veenstra - University of Washington
Digna R. Velez Edwards
Devin Absher - Kaiser Permanente
Noura S. Abul-Husn - Genomic Health
Jorge Alsip - UAB Medicine
Hana Bangash - Mayo Clinic in Arizona
Mark Beasley - University of Alabama at Birmingham
Jennifer E. Below - Vanderbilt University Medical Center
Eta S. Berner - University of Alabama at Birmingham
James Booth - University of Alabama at Birmingham
Wendy K. Chung - Columbia University Irving Medical Center
James J. Cimino - University of Alabama at Birmingham
John Connolly - Children's Hospital of Philadelphia
Patrick Davis - University of Washington Medical Center
Beth Devine - University of Washington
Stephanie M. Fullerton - University of Washington
Candace Guiducci - Broad Institute
Melissa L. Habrat - University of Washington Medical Center
Heather Hain - Children's Hospital of Philadelphia
Hakon Hakonarson - Children's Hospital of Philadelphia
Margaret Harr - Children's Hospital of Philadelphia
Eden Haverfield - Invitae
Valentina Hernandez - Mountain Park Health Center
Christin Hoell - Northwestern University
Martha Horike-Pyne - University of Washington Medical Center
George Hripcsak - Columbia University Irving Medical Center
Marguerite R. Irvin - University of Alabama at Birmingham
Christopher Kachulis - Broad Institute
Dean Karavite - Children's Hospital of Philadelphia
Eimear E. Kenny - Genomic Health
Atlas Khan - Columbia University Irving Medical Center
Krzysztof Kiryluk - Columbia University Irving Medical Center
Bruce Korf - University of Alabama at Birmingham
Leah Kottyan - Cincinnati Children's Hospital Medical Center
Iftikhar J. Kullo - Mayo Clinic in Arizona
Katie Larkin - Broad Institute
Cong Liu - Columbia University Irving Medical Center
Edyta Malolepsza
Teri A. Manolio - National Human Genome Research Institute
Thomas May - Washington State University Vancouver
Elizabeth M. McNally - Northwestern University
Frank Mentch - Children's Hospital of Philadelphia
Alexandra Miller - Mayo Clinic in Arizona
Sean D. Mooney - University of Washington Medical Center
Priyanka Murali - University of Washington Medical Center
Brenda Mutai - University of Washington Medical Center
Naveen Muthu - Children's Hospital of Philadelphia
Bahram Namjou - Cincinnati Children's Hospital Medical Center
Emma F. Perez - Brigham and Women's Hospital
Megan J. Puckelwartz - Northwestern University
Tejinder Rakhra-Burris - Duke University
Dan M. Roden - Vanderbilt University Medical Center
Elisabeth A. Rosenthal - University of Washington Medical Center
Seyedmohammad Saadatagah - Mayo Clinic in Arizona
Maya Sabatello - Columbia University
Dan J. Schaid - Mayo Clinic in Florida
Baergen Schultz - National Human Genome Research Institute
Lynn Seabolt - Vanderbilt University Medical Center
Gabriel Q. Shaibi - Arizona State University
Richard R. Sharp - Mayo Clinic in Florida
Brian Shirts
Maureen E. Smith
Jordan W. Smoller - Massachusetts General Hospital
Rene Sterling - National Human Genome Research Institute
Sabrina A. Suckiel - Genomic Health
Jeritt Thayer - Children's Hospital of Philadelphia
Hemant K. Tiwari - University of Alabama at Birmingham
Susan B. Trinidad - University of Washington
Theresa Walunas - Northwestern University
Wei-Qi Wei
Quinn S. Wells - Vanderbilt University
Chunhua Weng - Columbia University Irving Medical Center
Georgia L. Wiesner - Vanderbilt University Medical Center
Ken Wiley - National Human Genome Research Institute
Adam Gordon - Northwestern University
Agboade Sobowale
Akshar Patel
Alanna Strong
Alborz Sherafati
Alborz Sherfati
Alex Bick
Alka Chandel
Alyssa Rosenthal
Amit Khera
Amy Kontorovich
Andrew Beck
Angelica Espinoza
Anna Lewis
Anya Prince
Ayuko Iverson
Bahram Namjou Khales
Barbara Benoit
Becca Hernan
Ben Kallman
Ben Kerman
Ben Shoemaker
Benjamin Satterfield
Bethany Etheridge
Blake Goff
Bob Freimuth
Bob Grundmeier
Brenae Collier
Brett Harnett
Brian Chang
Brian Piening
Brittney Davis
Candace Patterson
Carmen Demetriou
Casey Ta
Catherine Hammack
Catrina Nelson
Caytie Gascoigne
Chad Dorn
Chad Moretz
Christie Hoell
Christine Cowles
Christoph Lange
Cole Brokamp
Courtney Scherr
Crystal Gonzalez
Cynthia Ramirez
Daichi Shimbo
Daniel Schaid
Dave Kaufman
David Kochan
Davinder Singh
Debbie Abrams
Digna Velez Edwards
Eduardo Morales
Ehsan Alipour
Eliza Duvall
Elizabeth McNally - Northwestern University
Elizabeth Bhoj
Elizabeth Cohn
Elizabeth Hibler
Emily Chesnut
Emily DeFranco
Emily Gallagher
Emily Soper
Erin Cash
Fei Wang
Firas Wehbe
Francisco Ricci
Gabriel Shaibi - Arizona State University
George Hahn
Gillian Belbin
Gio Davogustto
Girish Nadkarni
Haijun Qiu
Hannah Beasley
Hao Liu
Heide Aungst
Hillary Duckham
Hope Thomas
Iftikhar Kullo - Mayo Clinic in Arizona
Isabelle Allen
Iuliana Ionita-Laza
Jacklyn Hellwege
Jacob Petrzelka
Jacqueline Odgis
Jahnavi Narula
Jalpa Patel
James Meigs
James Snyder
Janet Olson
Janet Zahner
Jeff Pennington
Jen Pacheco
Jennifer Morse
Jeremy Corsmo
Jingheng Chen
Jocelyn Fournier
Jodell Jackson
Joe Glessner
Joel Pacyna
Johanna Smith - Northwestern University
John Lynch
John Shelley
Jonathan Mosley
Jordan Nestor
Joseph Kannry
Joseph Sutton
Josh F. Peterson - Vanderbilt University Medical Center
Joshua Smith
Julia Galasso
Julia Smith
Julia Wynn
Justin Gundelach
Justin Starren
Karmel Choi
Katherine Anderson
Katherine Bonini
Kathleen Leppig
Kathleen Muenzen
Kelsey Stuttgen
Kenny Nguyen
Kevin Dufendach
Kiley Atkins
Kristjan Norland
Laura Beskow
Li Hsu
Lifeng Tian
Lisa Mahanta
Lisa Martin
Lisa Wang
Lizbeth Gomez
Lorenzo Thompson
Lucas Richter
Lynn Petukhova
O
Publication Details: Genetics in Medicine, Vol.25(4)
Publisher: Elsevier B.V.
Identifiers: 991006161395802656
Language: English
Resource Type: Journal article

Returning integrated genomic risk and clinical recommendations: The eMERGE study

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