Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

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.

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

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