Educatio ation acro ross s NHGRIs Ge Genomic ic Medicine cine - - PowerPoint PPT Presentation

Educatio ation acro ross s NHGRI’s Ge Genomic ic Medicine cine Resea earch rch Port rtfol folio io

National Human Genome Research Institute National Institutes of Health U.S. Department

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Human Services

U. U.S. . De Depart rtment nt of He Health th and Hu Human n Servi vices ces Na Natio ional nal Institut stitutes s of He Healt lth Na Nationa nal l Hu Human n Genome

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Research arch Institut stitute

Teri Manolio, lio, M.D., , Ph.D. D. Divi visio sion n of Genomic ic Medici cine, ne, NHGRI Augus ust t 4, 2016

NAC ACHGR HGR Gen enom

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ic Me Medi dici cine ne Wo Working king Grou

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p Me Memb mbers ers

Carol Bult Jackson Lab Rex Chisholm Northwestern Geoff Ginsburg Duke Howard Jacob Med Coll Wisconsin Howard McLeod Moffitt Cancer Ctr Mary Relling

• St. Jude

Dan Roden Vanderbilt Marc Williams Geisinger Eric Green NHGRI Teri Manolio NHGRI Laura Rodriguez NHGRI NHGRI defines genomic medicine as “an emerging medical discipline that involves using genomic information about an individual as part of their clinical care and the health outcomes and policy implications of that clinical use.”

GM VI: : Global l Leaders, s, Jan 2014 Genomic ic Medici icine Coll lloquium, , June 2011 GM II: Formin ing Coll llaboratio rations, s, Dec c 2011 GM III: : Stake kehold lders, rs, May y 2012 GM IV: : Physici ysician Educa catio tion, , Jan 2013 GM V: Federa ral l Strate rategie ies, s, May 2013 GM VIII: NHGRI’s Genomic Medicine Programs, rams, June 2015 GM VII: I: Genomic ic CDS, , Oct 2014 GM IX: : Bedsid side Back ck to Bench ch, , Apri ril l 2016

NHGRI’s Genomic Medicine Research Program

Progr gram am Goal Σ$M $M Years rs

UDN UDN1 Diagnose se rare and new disease ses s by expandin ing NIH’s Undiagnosed Diseases Program 121 121 FY13-17 17 NSIGHT GHT2 Explore

• re possib

ible e uses s of genomic mic sequence ence informatio rmation in the newborn

• rn period

25 25 FY13-17 17 CSER3 Explore

• re infra

rast stru ruct cture, re, method

• ds,

s, and issues es for integra gratin ting genomic mic sequence ence into

• clinical

ical care 83 83 FY12-16 16 eMERGE RGE4 Use biorepositorie sitories s with EMRs for genomi mics; cs; (III II) assess ss penetra trance nce of 106 clinical cally y releva vant nt genes in 25,000 00 individ idual als, s, develo lop e-pheno notype types, s, CDS 135 135 FY07-18 18 IGNITE NITE3 Develop lop and disseminate eminate methods hods for incorp rpora

• ratin

ting g patients’ genomic findings into their clinical care 32 32 FY13-16 16 ClinGen Gen4 Develop lop and disseminate eminate consen ensu sus s information rmation on genes s and variants iants releva vant nt to clinical ical care 28 28 FY13-16 16

1NIH Common Fund; 2Co-Funded by NICHD; 3Co-Funded by NCI; 4Co-Funded by OD.

Spe pectrum trum of

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IGNITE NITE eMERGE RGE UDN UDN

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Bread adth th of Implem ement entati ation

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Test sting ing Multip tiple le Models dels Syst stem em-Wide Wide Impac act Impact act on Clinic ician ans, s, Labs bs

: Training

8 sites with Training Opportunities

• Fellowship programs
• Student trainees
• Volunteers

Train: clinical fellows, residents, undergraduates, masters students, postdoctoral fellows, and faculty Included in: case conferences, case review, clinical consults, and sequence analysis

In progres

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s, July ly 2016. 16. Courtesy urtesy K Ea East st, S Pl Plon, D Messers ssersmith mith, CSER R Prac actitio itioner ner Educ ucat ation ion WG.

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Amendola et al. Per. Med. (2015) 12(3):283-‐95.

eM eMERGE RGE

• Online resource for clinicians, researchers,

educators, and patients

• Community can submit resources online
• For clinicians:

– Clinical decision support alerts – Clinical examples supporting implementation – Professional development resources – Clinical teaching tools – Decision tables

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https ps://igni ignite te-gen genomics.org

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Fostering clinician engagement with the ClinGen Resource

Many Thanks…

Ebony Bookman Joy Boyer Lisa Brooks Erin Currey Cecilia Dupecher

• C. Fletcher-Hoppe

Eric Green Jyoti Gupta Lucia Hindorff Carolyn Hutter Jean Jenkins Dave Kaufmann Carol Bult Rex Chisholm Geoff Ginsburg Howard Jacob Howard McLeod Mary Relling Dan Roden Marc Williams Heather Junkins Melpi Kasapi Rongling Li Nicole Lockhart Jean McEwen Donna Messersmith Erin Ramos Laura Rodriguez Simona Volpi Robert Wildin Ken Wiley Anastasia Wise

GenomMed Programs Investigators and Participants!