TY - JOUR
T1 - The Clinical Sequencing Evidence-Generating Research Consortium
T2 - Integrating Genomic Sequencing in Diverse and Medically Underserved Populations
AU - CSER consortium
AU - Amendola, Laura M.
AU - Berg, Jonathan S.
AU - Horowitz, Carol R.
AU - Angelo, Frank
AU - Bensen, Jeannette T.
AU - Biesecker, Barbara B.
AU - Biesecker, Leslie G.
AU - Cooper, Gregory M.
AU - East, Kelly
AU - Filipski, Kelly
AU - Fullerton, Stephanie M.
AU - Gelb, Bruce D.
AU - Goddard, Katrina A.B.
AU - Hailu, Benyam
AU - Hart, Ragan
AU - Hassmiller-Lich, Kristen
AU - Joseph, Galen
AU - Kenny, Eimear E.
AU - Koenig, Barbara A.
AU - Knight, Sara
AU - Kwok, Pui Yan
AU - Lewis, Katie L.
AU - McGuire, Amy L.
AU - Norton, Mary E.
AU - Ou, Jeffrey
AU - Parsons, Donald W.
AU - Powell, Bradford C.
AU - Risch, Neil
AU - Robinson, Mimsie
AU - Rini, Christine
AU - Scollon, Sarah
AU - Slavotinek, Anne M.
AU - Veenstra, David L.
AU - Wasserstein, Melissa P.
AU - Wilfond, Benjamin S.
AU - Hindorff, Lucia A.
AU - Plon, Sharon E.
AU - Jarvik, Gail P.
N1 - Funding Information:
This work was funded by ZIA HG200387, U01 HG006485, U01 HG007301, U01 HG007292, U01 HG006487, U01 HG009610, U01 HG009599, and U24 HG007307. L.G.B. and K.L.L. were supported by the intramural research program of the National Human Genome Research Institute, grant HG200359 09. The authors thank Melpi Kasapi and Ellen Howerton for logistical support, as well as Kevin Bowling, Tia Kauffman, and Nuriye Sahin-Hodoglugil for their contributions.
Publisher Copyright:
© 2018 American Society of Human Genetics
PY - 2018/9/6
Y1 - 2018/9/6
N2 - The Clinical Sequencing Evidence-Generating Research (CSER) consortium, now in its second funding cycle, is investigating the effectiveness of integrating genomic (exome or genome) sequencing into the clinical care of diverse and medically underserved individuals in a variety of healthcare settings and disease states. The consortium comprises a coordinating center, six funded extramural clinical projects, and an ongoing National Human Genome Research Institute (NHGRI) intramural project. Collectively, these projects aim to enroll and sequence over 6,100 participants in four years. At least 60% of participants will be of non-European ancestry or from underserved settings, with the goal of diversifying the populations that are providing an evidence base for genomic medicine. Five of the six clinical projects are enrolling pediatric patients with various phenotypes. One of these five projects is also enrolling couples whose fetus has a structural anomaly, and the sixth project is enrolling adults at risk for hereditary cancer. The ongoing NHGRI intramural project has enrolled primarily healthy adults. Goals of the consortium include assessing the clinical utility of genomic sequencing, exploring medical follow up and cascade testing of relatives, and evaluating patient-provider-laboratory level interactions that influence the use of this technology. The findings from the CSER consortium will offer patients, healthcare systems, and policymakers a clearer understanding of the opportunities and challenges of providing genomic medicine in diverse populations and settings, and contribute evidence toward developing best practices for the delivery of clinically useful and cost-effective genomic sequencing in diverse healthcare settings.
AB - The Clinical Sequencing Evidence-Generating Research (CSER) consortium, now in its second funding cycle, is investigating the effectiveness of integrating genomic (exome or genome) sequencing into the clinical care of diverse and medically underserved individuals in a variety of healthcare settings and disease states. The consortium comprises a coordinating center, six funded extramural clinical projects, and an ongoing National Human Genome Research Institute (NHGRI) intramural project. Collectively, these projects aim to enroll and sequence over 6,100 participants in four years. At least 60% of participants will be of non-European ancestry or from underserved settings, with the goal of diversifying the populations that are providing an evidence base for genomic medicine. Five of the six clinical projects are enrolling pediatric patients with various phenotypes. One of these five projects is also enrolling couples whose fetus has a structural anomaly, and the sixth project is enrolling adults at risk for hereditary cancer. The ongoing NHGRI intramural project has enrolled primarily healthy adults. Goals of the consortium include assessing the clinical utility of genomic sequencing, exploring medical follow up and cascade testing of relatives, and evaluating patient-provider-laboratory level interactions that influence the use of this technology. The findings from the CSER consortium will offer patients, healthcare systems, and policymakers a clearer understanding of the opportunities and challenges of providing genomic medicine in diverse populations and settings, and contribute evidence toward developing best practices for the delivery of clinically useful and cost-effective genomic sequencing in diverse healthcare settings.
UR - http://www.scopus.com/inward/record.url?scp=85052623556&partnerID=8YFLogxK
U2 - 10.1016/j.ajhg.2018.08.007
DO - 10.1016/j.ajhg.2018.08.007
M3 - Comment/debate
C2 - 30193136
AN - SCOPUS:85052623556
SN - 0002-9297
VL - 103
SP - 319
EP - 327
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 3
ER -