TY - JOUR
T1 - Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network
AU - the eMERGE Consortium
AU - Zouk, Hana
AU - Venner, Eric
AU - Lennon, Niall J.
AU - Muzny, Donna M.
AU - Abrams, Debra
AU - Adunyah, Samuel
AU - Albertson-Junkans, Ladia
AU - Ames, Darren C.
AU - Appelbaum, Paul
AU - Aronson, Samuel
AU - Aufox, Sharon
AU - Babb, Lawrence J.
AU - Balasubramanian, Adithya
AU - Bangash, Hana
AU - Basford, Melissa
AU - Bastarache, Lisa
AU - Baxter, Samantha
AU - Behr, Meckenzie
AU - Benoit, Barbara
AU - Bhoj, Elizabeth
AU - Bielinski, Suzette J.
AU - Bland, Sarah T.
AU - Blout, Carrie
AU - Borthwick, Kenneth
AU - Bottinger, Erwin P.
AU - Bowser, Mark
AU - Brand, Harrison
AU - Brilliant, Murray
AU - Brodeur, Wendy
AU - Caraballo, Pedro
AU - Carrell, David
AU - Carroll, Andrew
AU - Almoguera, Berta
AU - Castillo, Lisa
AU - Castro, Victor
AU - Chandanavelli, Gauthami
AU - Chiang, Theodore
AU - Chisholm, Rex L.
AU - Christensen, Kurt D.
AU - Chung, Wendy
AU - Chute, Christopher G.
AU - City, Brittany
AU - Cobb, Beth L.
AU - Connolly, John J.
AU - Crane, Paul
AU - Crew, Katherine
AU - De Andrade, Mariza
AU - Klee, Eric
AU - Freimuth, Robert
AU - Sharma, Himanshu
N1 - Publisher Copyright:
© 2019 American Society of Human Genetics
PY - 2019/9/5
Y1 - 2019/9/5
N2 - The advancement of precision medicine requires new methods to coordinate and deliver genetic data from heterogeneous sources to physicians and patients. The eMERGE III Network enrolled >25,000 participants from biobank and prospective cohorts of predominantly healthy individuals for clinical genetic testing to determine clinically actionable findings. The network developed protocols linking together the 11 participant collection sites and 2 clinical genetic testing laboratories. DNA capture panels targeting 109 genes were used for testing of DNA and sample collection, data generation, interpretation, reporting, delivery, and storage were each harmonized. A compliant and secure network enabled ongoing review and reconciliation of clinical interpretations, while maintaining communication and data sharing between clinicians and investigators. A total of 202 individuals had positive diagnostic findings relevant to the indication for testing and 1,294 had additional/secondary findings of medical significance deemed to be returnable, establishing data return rates for other testing endeavors. This study accomplished integration of structured genomic results into multiple electronic health record (EHR) systems, setting the stage for clinical decision support to enable genomic medicine. Further, the established processes enable different sequencing sites to harmonize technical and interpretive aspects of sequencing tests, a critical achievement toward global standardization of genomic testing. The eMERGE protocols and tools are available for widespread dissemination.
AB - The advancement of precision medicine requires new methods to coordinate and deliver genetic data from heterogeneous sources to physicians and patients. The eMERGE III Network enrolled >25,000 participants from biobank and prospective cohorts of predominantly healthy individuals for clinical genetic testing to determine clinically actionable findings. The network developed protocols linking together the 11 participant collection sites and 2 clinical genetic testing laboratories. DNA capture panels targeting 109 genes were used for testing of DNA and sample collection, data generation, interpretation, reporting, delivery, and storage were each harmonized. A compliant and secure network enabled ongoing review and reconciliation of clinical interpretations, while maintaining communication and data sharing between clinicians and investigators. A total of 202 individuals had positive diagnostic findings relevant to the indication for testing and 1,294 had additional/secondary findings of medical significance deemed to be returnable, establishing data return rates for other testing endeavors. This study accomplished integration of structured genomic results into multiple electronic health record (EHR) systems, setting the stage for clinical decision support to enable genomic medicine. Further, the established processes enable different sequencing sites to harmonize technical and interpretive aspects of sequencing tests, a critical achievement toward global standardization of genomic testing. The eMERGE protocols and tools are available for widespread dissemination.
KW - clinical sequencing
KW - electronic health record
KW - eMERGE
KW - harmonization
KW - next generation sequencing
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U2 - 10.1016/j.ajhg.2019.07.018
DO - 10.1016/j.ajhg.2019.07.018
M3 - Article
C2 - 31447099
AN - SCOPUS:85071493018
SN - 0002-9297
VL - 105
SP - 588
EP - 605
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 3
ER -