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Returning integrated genomic risk and clinical recommendations: The eMERGE study.

Publication ,  Journal Article
Linder, JE; Allworth, A; Bland, HT; Caraballo, PJ; Chisholm, RL; Clayton, EW; Crosslin, DR; Dikilitas, O; DiVietro, A; Esplin, ED; Forman, S ...
Published in: Genet Med
April 2023

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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Published In

Genet Med

DOI

EISSN

1530-0366

Publication Date

April 2023

Volume

25

Issue

4

Start / End Page

100006

Location

United States

Related Subject Headings

  • Risk Factors
  • Risk Assessment
  • Prospective Studies
  • Humans
  • Genomics
  • Genome
  • Genetics & Heredity
  • 3105 Genetics
  • 1103 Clinical Sciences
  • 0604 Genetics
 

Citation

APA
Chicago
ICMJE
MLA
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Linder, J. E., Allworth, A., Bland, H. T., Caraballo, P. J., Chisholm, R. L., Clayton, E. W., … Peterson, J. F. (2023). Returning integrated genomic risk and clinical recommendations: The eMERGE study. Genet Med, 25(4), 100006. https://doi.org/10.1016/j.gim.2023.100006
Linder, Jodell E., Aimee Allworth, Harris T. Bland, Pedro J. Caraballo, Rex L. Chisholm, Ellen Wright Clayton, David R. Crosslin, et al. “Returning integrated genomic risk and clinical recommendations: The eMERGE study.Genet Med 25, no. 4 (April 2023): 100006. https://doi.org/10.1016/j.gim.2023.100006.
Linder JE, Allworth A, Bland HT, Caraballo PJ, Chisholm RL, Clayton EW, et al. Returning integrated genomic risk and clinical recommendations: The eMERGE study. Genet Med. 2023 Apr;25(4):100006.
Linder, Jodell E., et al. “Returning integrated genomic risk and clinical recommendations: The eMERGE study.Genet Med, vol. 25, no. 4, Apr. 2023, p. 100006. Pubmed, doi:10.1016/j.gim.2023.100006.
Linder JE, Allworth A, Bland HT, Caraballo PJ, Chisholm RL, Clayton EW, Crosslin DR, Dikilitas O, DiVietro A, Esplin ED, Forman S, Freimuth RR, Gordon AS, Green R, Harden MV, Holm IA, Jarvik GP, Karlson EW, Labrecque S, Lennon NJ, Limdi NA, Mittendorf KF, Murphy SN, Orlando L, Prows CA, Rasmussen LV, Rasmussen-Torvik L, Rowley R, Sawicki KT, Schmidlen T, Terek S, Veenstra D, Velez Edwards DR, Absher D, Abul-Husn NS, Alsip J, Bangash H, Beasley M, Below JE, Berner ES, Booth J, Chung WK, Cimino JJ, Connolly J, Davis P, Devine B, Fullerton SM, Guiducci C, Habrat ML, Hain H, Hakonarson H, Harr M, Haverfield E, Hernandez V, Hoell C, Horike-Pyne M, Hripcsak G, Irvin MR, Kachulis C, Karavite D, Kenny EE, Khan A, Kiryluk K, Korf B, Kottyan L, Kullo IJ, Larkin K, Liu C, Malolepsza E, Manolio TA, May T, McNally EM, Mentch F, Miller A, Mooney SD, Murali P, Mutai B, Muthu N, Namjou B, Perez EF, Puckelwartz MJ, Rakhra-Burris T, Roden DM, Rosenthal EA, Saadatagah S, Sabatello M, Schaid DJ, Schultz B, Seabolt L, Shaibi GQ, Sharp RR, Shirts B, Smith ME, Smoller JW, Sterling R, Suckiel SA, Thayer J, Tiwari HK, Trinidad SB, Walunas T, Wei W-Q, Wells QS, Weng C, Wiesner GL, Wiley K, eMERGE Consortium, Peterson JF. Returning integrated genomic risk and clinical recommendations: The eMERGE study. Genet Med. 2023 Apr;25(4):100006.

Published In

Genet Med

DOI

EISSN

1530-0366

Publication Date

April 2023

Volume

25

Issue

4

Start / End Page

100006

Location

United States

Related Subject Headings

  • Risk Factors
  • Risk Assessment
  • Prospective Studies
  • Humans
  • Genomics
  • Genome
  • Genetics & Heredity
  • 3105 Genetics
  • 1103 Clinical Sciences
  • 0604 Genetics