Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

TitleClinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
Publication TypeJournal Article
Year of Publication2016
AuthorsGreen, RC, Goddard, KAB, Jarvik, GP, Amendola, LM, Appelbaum, PS, Berg, JS, Bernhardt, BA, Biesecker, LG, Biswas, S, Blout, CL, Bowling, KM, Brothers, KB, Burke, W, Caga-Anan, CF, Chinnaiyan, AM, Chung, WK, Clayton, EW, Cooper, GM, East, K, Evans, JP, Fullerton, SM, Garraway, LA, Garrett, JR, Gray, SW, Henderson, GE, Hindorff, LA, Holm, IA, Lewis, MHuckaby, Hutter, CM, Janne, PA, Joffe, S, Kaufman, D, Knoppers, BM, Koenig, BA, Krantz, ID, Manolio, TA, McCullough, L, McEwen, J, McGuire, A, Muzny, DM, Myers, RM, Nickerson, DA, Ou, J, Parsons, DW, Petersen, GM, Plon, SE, Rehm, HL, J Roberts, S, Robinson, D, Salama, JS, Scollon, S, Sharp, RR, Shirts, B, Spinner, NB, Tabor, HK, Tarczy-Hornoch, P, Veenstra, DL, Wagle, N, Weck, K, Wilfond, BS, Wilhelmsen, K, Wolf, SM, Wynn, J, Yu, J-H
Corporate Authors
JournalAm J Hum Genet
Volume98
Issue6
Pagination1051-66
Date Published2016 Jun 02
ISSN1537-6605
Abstract

Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine.

DOI10.1016/j.ajhg.2016.04.011
Alternate JournalAm. J. Hum. Genet.
PubMed ID27181682
PubMed Central IDPMC4908179
Grant ListUM1 HG006508 / HG / NHGRI NIH HHS / United States
U01 HG006546 / HG / NHGRI NIH HHS / United States
R01 HG006600 / HG / NHGRI NIH HHS / United States
P20 HG007243 / HG / NHGRI NIH HHS / United States
R01 HG004500 / HG / NHGRI NIH HHS / United States
R21 HG006612 / HG / NHGRI NIH HHS / United States
P50 HG007257 / HG / NHGRI NIH HHS / United States
R21 HG006613 / HG / NHGRI NIH HHS / United States
K99 HG007076 / HG / NHGRI NIH HHS / United States
R21 HG006596 / HG / NHGRI NIH HHS / United States
U41 HG006834 / HG / NHGRI NIH HHS / United States
R01 HG006615 / HG / NHGRI NIH HHS / United States
U01 HG006507 / HG / NHGRI NIH HHS / United States
U54 HG003273 / HG / NHGRI NIH HHS / United States
U01 HG006485 / HG / NHGRI NIH HHS / United States
U01 AG047109 / AG / NIA NIH HHS / United States
R01 HG007063 / HG / NHGRI NIH HHS / United States
R01 HG006618 / HG / NHGRI NIH HHS / United States
UM1 HG007292 / HG / NHGRI NIH HHS / United States
R01 CA154517 / CA / NCI NIH HHS / United States
UL1 TR000423 / TR / NCATS NIH HHS / United States
U01 HG008685 / HG / NHGRI NIH HHS / United States
U01 HG006379 / HG / NHGRI NIH HHS / United States
R21 HG006594 / HG / NHGRI NIH HHS / United States
UM1 HG007301 / HG / NHGRI NIH HHS / United States
U01 HG007307 / HG / NHGRI NIH HHS / United States
U01 HG006487 / HG / NHGRI NIH HHS / United States
U01 HG006492 / HG / NHGRI NIH HHS / United States