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 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 National Na Nationa nal l Hu Human n Genome ome Re Research arch Institut stitute Institutes of Health Teri Manolio, lio, M.D., , Ph.D. D. Divi visio sion n of Genomic ic Medici cine, ne, NHGRI Augus ust t 4, 2016 U.S. Department of Health and Human Services

NAC ACHGR HGR Gen enom omic ic Me Medi dici cine ne Wo Working king Grou oup p Me Memb mbers ers Carol Bult Jackson Lab NHGRI defines genomic medicine as “an emerging Rex Chisholm Northwestern medical discipline that involves using genomic Geoff Ginsburg Duke information about an individual as part of their Howard Jacob Med Coll Wisconsin clinical care and the health outcomes and policy Howard McLeod Moffitt Cancer Ctr implications of that clinical use.” Mary Relling St. Jude Dan Roden Vanderbilt Marc Williams Geisinger Eric Green NHGRI Teri Manolio NHGRI Laura Rodriguez NHGRI

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

NHGRI’s Genomic Medicine Research Program Progr gram am Goal Σ $M $M Years rs Diagnose se rare and new disease ses s by expandin ing UDN UDN 1 121 121 FY13-17 17 NIH’s Undiagnosed Diseases Program Explore ore possib ible e uses s of genomic mic sequence ence NSIGHT GHT 2 25 25 FY13-17 17 informatio rmation in the newborn orn period Explore ore infra rast stru ruct cture, re, method ods, s, and issues es for CSER 3 83 83 FY12-16 16 integra gratin ting genomic mic sequence ence into o clinical ical care Use biorepositorie sitories s with EMRs for genomi mics; cs; (III II) eMERGE RGE 4 assess ss penetra trance nce of 106 clinical cally y releva vant nt genes 135 135 FY07-18 18 in 25,000 00 individ idual als, s, develo lop e-pheno notype types, s, CDS Develop lop and disseminate eminate methods hods for incorp rpora oratin ting g IGNITE NITE 3 32 32 FY13-16 16 patients’ genomic findings into their clinical care Develop lop and disseminate eminate consen ensu sus s information rmation on ClinGen Gen 4 28 28 FY13-16 16 genes s and variants iants releva vant nt to clinical ical care 1 NIH Common Fund; 2 Co-Funded by NICHD; 3 Co-Funded by NCI; 4 Co-Funded by OD.

Spe pectrum trum of of Gen enom omic ic Me Medi dicine ine Im Impl plemen ementation tation: : In Inte tens nsity ity vs. s. Brea eadt dth Bread adth th of Implem ement entati ation on Depth th of Patie IGNITE NITE eMERGE RGE Impact act on tient Clinic ician ans, s, Labs bs nt Character CSER acterizati Eviden dence ce Syst stem em-Wide Wide UDN UDN Genera enerati tion on Impac act ization on NSIGHT GHT Individu ividual al Test sting ing Multip tiple le Patient ent Focu cus Models dels

: 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

Prac actitione itioner r Edu ducat ation ion Wor orking ing Grou oup In progres ogress, 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.

Gen enet etic ic Cou ouns nseling eling Wo Worki king ng Grou oup Amendola et al. Per. Med. (2015) 12(3):283- ‐ 95. CSER Genet etic ic Couns unseling ing Wor orki king ng Group oup

eM eMERGE RGE

IGNITE IG NITE SPARK RK Too oolb lbox ox • Online resource for clinicians, researchers, Clini nical cal TPMT MT Phenot notype ype Metabol bolism sm Status us Dipl plot otype ype Priori ority 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 https ps://igni ignite te-gen genomics.org omics.org/spar spark-toolbox/c toolbox/clinician linicians/

Ed Educ ucati ation on, , En Enga gage geme ment, nt, an and d Cou ouns nseli eling ng Work orkin ing g Group oup Fostering clinician engagement with the ClinGen Resource

Many Thanks… GenomMed Programs Investigators and Participants! Ebony Bookman Heather Junkins Carol Bult Joy Boyer Melpi Kasapi Rex Chisholm Lisa Brooks Rongling Li Erin Currey Nicole Lockhart Geoff Ginsburg Cecilia Dupecher Jean McEwen Howard Jacob C. Fletcher-Hoppe Donna Messersmith Eric Green Erin Ramos Howard McLeod Jyoti Gupta Laura Rodriguez Mary Relling Lucia Hindorff Simona Volpi Carolyn Hutter Robert Wildin Dan Roden Jean Jenkins Ken Wiley Dave Kaufmann Anastasia Wise Marc Williams