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Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network

2019; Elsevier BV; Volume: 105; Issue: 3 Linguagem: Inglês

10.1016/j.ajhg.2019.07.018

1537-6605

Hana Zouk, Eric Venner, Niall J. Lennon, Donna M. Muzny, Debra Abrams, Samuel E. Adunyah, Ladia Albertson‐Junkans, Darren C. Ames, Paul S. Appelbaum, Samuel Aronson, Sharon Aufox, Lawrence Babb, Adithya Balasubramanian, Hana Bangash, Melissa Basford, Lisa Bastarache, Samantha Baxter, Meckenzie Behr, Barbara Benoit, Elizabeth Bhoj, Suzette J. Bielinski, Harris T. Bland, Carrie L. Blout Zawatsky, Kenneth M. Borthwick, Erwin P. Böttinger, Mark Bowser, Harrison Brand, Murray H. Brilliant, Wendy Brodeur, Pedro J. Caraballo, David Carrell, Andrew Carroll, Berta Almoguera, Lisa Castillo, Víctor M. Castro, Gauthami Chandanavelli, Theodore Chiang, Rex L. Chisholm, Kurt D. Christensen, Wendy K. Chung, Christopher G. Chute, Brittany City, Beth L. Cobb, John J. Connolly, Paul K. Crane, Katherine D. Crew, David R. Crosslin, Mariza de Andrade, Jessica De la Cruz, Shawn Denson, Joshua C. Denny, Tim DeSmet, Ozan Dikilitas, Christopher A. Friedrich, Stephanie M. Fullerton, Birgit Funke, Stacey Gabriel, Vivian S. Gainer, Ali G. Gharavi, Andrew M. Glazer, Joseph Glessner, Jessica Goehringer, Allan Gordon, Chet Graham, Robert C. Green, Justin H. Gundelach, Jyoti G. Dayal, Heather S. Hain, Hákon Hákonarson, Maegan Harden, John B. Harley, Margaret Harr, Andrea L. Hartzler, M. Geoffrey Hayes, Scott J. Hebbring, Nora B. Henrikson, Andrew D. Hershey, Christin Hoell, Ingrid A. Holm, Kayla M. Howell, George Hripcsak, Jianhong Hu, Gail P. Jarvik, Joy C. Jayaseelan, Yunyun Jiang, Yoonjung Yoonie Joo, Sheethal Jose, Navya Shilpa Josyula, Anne E. Justice, Sara E. Kalla, Divya Kalra, Elizabeth W. Karlson, Melissa Kelly, Brendan J. Keating, Eimear E. Kenny, Dustin Key, Krzysztof Kiryluk, Terrie Kitchner, Barbara J. Klanderman, Eric W. Klee, David C. Kochan, Viktoriya Korchina, Leah C. Kottyan, Christie Kovar, Emily Kudalkar, Iftikhar J. Kullo, Philip E. Lammers, Eric B. Larson, Matthew S. Lebo, Magalie S. Leduc, Ming Ta Lee, Kathleen A. Leppig, Nancy D. Leslie, Rongling Li, Wayne H. Liang, Chiao‐Feng Lin, Jodell E. Linder, Noralane M. Lindor, Todd Lingren, James G. Linneman, Cong Liu, Ryan Wen Liu, Xiuping Liu, John Lynch, Hayley Lyon, Alyssa Macbeth, Harshad S. Mahadeshwar, Lisa Mahanta, Bradley Malin, Teri A. Manolio, Maddalena Marasà, Keith Marsolo, Michael J. Dinsmore, Sheila Dodge, Elizabeth Hynes, Phil Dunlea, Todd L. Edwards, Christine M. Eng, David Fasel, Alex Fedotov, QiPing Feng, Mark Fleharty, Andrea L. Foster, Robert R. Freimuth, Michelle L. McGowan, Elizabeth M. McNally, Jim Meldrim, Frank Mentch, Jonathan D. Mosley, Shubhabrata Mukherjee, Thomas E. Mullen, Jesse Muniz, David R. Murdock, Shawn N. Murphy, Mullai Murugan, Melanie F. Myers, Bahram Namjou, Yizhao Ni, Aniwaa Owusu Obeng, Robert C. Onofrio, Casey Overby Taylor, Thomas N. Person, Josh F. Peterson, Lynn Petukhova, Cassandra J. Pisieczko, Siddharth Pratap, Cynthia A. Prows, Megan J. Puckelwartz, Alanna Kulchak Rahm, Ritika Raj, James D. Ralston, Arvind Ramaprasan, Andrea H. Ramirez, Luke V. Rasmussen, Laura J. Rasmussen‐Torvik, Hila Milo Rasouly, Soumya Raychaudhuri, Marylyn D. Ritchie, Catherine Rives, Beenish Riza, Dan M. Roden, Elisabeth A. Rosenthal, Avni Santani, Dan Schaid, Steven E. Scherer, Stuart A. Scott, Aaron Scrol, Soumitra SenGupta, Ning Shang, Himanshu Sharma, Richard R. Sharp, Rajbir Singh, Patrick Sleiman, Kara Slowik, Joshua C. Smith, Maureen E. Smith, Jordan W. Smoller, Sunghwan Sohn, Ian B. Stanaway, Justin Starren, Mary Stroud, Jessica Lasky‐Su, Kasia Tolwinski, Sara L. Van Driest, Sean M. Vargas, Matthew Varugheese, David L. Veenstra, Miguel Verbitsky, Gina Vicente, Michael Wagner, Kimberly Walker, Theresa L. Walunas, Liwen Wang, Qiaoyan Wang, Wei‐Qi Wei, Scott T. Weiss, Georgia L. Wiesner, Quinn S. Wells, Chunhua Weng, Peter S. White, Ken Wiley, Janet L. Williams, Marc S. Williams, Michael W. Wilson, Leora Witkowski, Laura Woods, Betty Woolf, Tsung-Jung Wu, Julia Wynn, Yaping Yang, Victoria Yi, Ge Zhang, Lan Zhang, Heidi L. Rehm, Richard A. Gibbs,

Cancer Genomics and Diagnostics

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. 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.