S T ABL E OF CONT E NT AGE NDA DAY 1 DAY 2 GOAL S OF GE - PDF document

Ge no mic Me dic ine VIII: NHGRI’s Ge no mic Me dic ine Po r tfo lio S T ABL E OF CONT E NT AGE NDA DAY 1 DAY 2 GOAL S OF GE NOMIC ME DICINE VIII ME E T ING OBJE CT IVE S RE L T AE D T O GE NOMIC ME DICINE PROGRAMS BARRIE RS T O GE NOMIC ME DICINE PROGRAMS IMPACT F UL PUBL ICAT IONS F OCUS PROGRAM SUMMARIE S • Clinic al Ge nomic s Re sour c e (ClinGe n) inc luding NCBI’s ClinVar • Clinic al Se que nc ing E xplor ator y Re se ar c h (CSE R) inc luding intr amur al ClinSe q • E le c tr onic Me dic al Re c or ds and Ge nomic s Ne twor k (e ME RGE ) • Ge nomic Me dic ine Me e tings Pr ogr am as a whole (GM MT GS) • Global Ge nomic Me dic ine Collabor ative (G2MC) • Imple me nting Ge nomic s into Pr ac tic e (IGNIT E ) • Ne wbor n Se que nc ing in Ge nomic Me dic ine and Public He alth (NSIGHT ) • Undiagnose d Dise ase s Ne twor k (UDN) RE L AT E D PROGRAM SUMMARIE S • • • AF MS GT E x NCI- MAT CH • • • CMG H3AF RICA PAGE • • • CPIC HMORN PCORne t • • • E NCODE IOM PGRN • • • GAPH L SAC Phe nX • • • GA4GH ISCC PMI • • GGR MVP • • GS- IT NCI- AL CHE MIST HOT E L AND T RAVE L L OGIST ICS INF ORMAT ION S GE NOMIC ME DICINE VIII ME E T ING – CONT ACT L IST 1

Ge no mic Me dic ine VIII: NHGRI’s Ge no mic Me dic ine Po r tfo lio June 8- 9, 2015 Hilton - Washington DC / Roc kville 1750 Roc kville Pike , Roc kville , MD 20852 (301) 468- 1100 Monday, June 8 th L OCAT ION: Hilton – Washington DC / R oc kville Hote l WE BCAST : Ge nome T V - http:/ / www.ge no me .go v/ Ge no me T V/ T WIT T E R: #Ge nomic Me d8 7:30 AM Re g istra tio n a nd Bre a kfa st Re g istra tio n T a b le 8:30 AM We lc o me , I ntro d uc tio ns, a nd Go a ls o f the Me e ting Ho wa rd Mc L e o d E ric Gre e n 8:45 AM Ove rvie w o f NHGRI Ge no mic Me d ic ine Pro g ra ms T e ri Ma no lio 9:15 AM 1: K e y Una d d re sse d E vid e nc e Ga ps in Ge o ff Ginsb urg * PANE L I mple me nting Ge no mic Me d ic ine Jo na tha n Be rg Pie rre Me ulie n Gurva ne e t Ra nd ha wa 10:15 AM BRE AK 10:45 AM 2: Co nsiste nc y o f Inte rpre ta tio n o f Va ria nts Ac ro ss Da n Ro d e n* PANE L E xpe rt L a b s / Gro ups, ClinVa r Sub missio ns? Ga il Ja rvik Ro b e rt Gre e n 11:45 AM PANE L 3: Cha ng e s in E vid e nc e a nd T hus Upd a ting Ho wa rd Ja c o b * Re c o mme nd a tio ns, T re a tme nt He id i Re hm Sha ro n Plo n K a trina Go d d a rd 12:45 PM Wo rking L unc h 1:30 PM 4: Me tric s o f Pro g re ss a nd Me a sure s o f I mpa c t Ma rc Williams* PANE L I nc lud ing Co st-E ffe c tive ne ss, Outc o me s to Va lue to Pa ye rs, Wa rwic k And e rso n I nflue nc ing Quality o f Ca re T hro ug h L e a rning He a lthc a re E rwin Bo tting e r Syste ms Ruth Bre nne r 3

Ge no mic Me dic ine VIII: NHGRI’s Ge no mic Me dic ine Po r tfo lio June 8- 9, 2015 Hilton - Washington DC / Roc kville 1750 Roc kville Pike , Roc kville , MD 20852 (301) 468- 1100 Monday, June 8 th (Continue d) L OCAT ION: Hilton – Washington DC / R oc kville Hote l WE BCAST : Ge nome T V - http:/ / www.ge no me .go v/ Ge no me T V/ T WIT T E R: #Ge nomic Me d8 2:30 PM 5: E nha nc ing F unc tio na lity o f E HRs fo r Ge no mic Re x Chisho lm* PANE L Re se a rc h, Inc lud ing E -Phe no tying , Inte g ra ting Ge no mic Ale xa Mc Cra y Da ta , T ra nsp o rta b le CDS, Priva c y T hre a ts Chris Chute 3:30 PM BRE AK 4:00 PM 6: I nc re a sing Dive rsity Amo ng Pa tie nt Po pula tio ns Ca ro l Bult* PANE L a nd Ca re Syste ms Cynthia Po we ll Ve nc e Bo nha m Cra ig Ha nis 5:00 PM F irst Da y Summa ry a nd Disc ussio n T e ri Ma no lio Ho wa rd Mc L e o d 6:00 PM ADJOURN • All Atte nd e e s – On yo ur o wn fo r d inne r • Ge no mic Me d ic ine Wo rking Gro up ONL Y - Se e yo ur e ma il ab o ut e ve ning d e ta ils 4

Ge no mic Me dic ine VIII: NHGRI’s Ge no mic Me dic ine Po r tfo lio June 8- 9, 2015 Hilton - Washington DC / Roc kville 1750 Roc kville Pike , Roc kville , MD 20852 (301) 468- 1100 T ue sday, June 9 th L OCAT ION: Hilton – Washington DC / Roc kville Hote l Ge nome V - http://www.genome.gov/GenomeTV/ WE BCAST : T T WIT T E R: #Ge nomic Me d8 7:30 AM Bre a kfa st 8:30 AM F irst Da y Re c a p Ho wa rd Mc L e o d T e ri Ma no lio 8:45AM 7: Stre a mlining Clinic al Wo rkflo w, T ra nspo rta b ility Ho wa rd Mc L e o d * PANE L to Othe r Syste ms, ClinVa r Sub missio ns? Mike Ga zia no Ste phe n K ing smo re E rin Ramo s 9:45 AM 8: Clinic ia n E d uc a tio n (E spe c ia lly Re sid e nts Ma ry Re lling * PANE L o n Ro ta tio n, Ge ne tic Co unse lo rs), Re po rting Re sults to Julie Jo hnso n Clinic ia ns Bo b Wild in We nd y Rub inste in 10:45 AM BRE AK 11:15 AM 9: Pa tie nt-F a c ing Info rma tio n T o o ls, L a ura Ro drig ue z* PANE L Co unse ling / Co nse nt, Re p o rting Re sults to Pa tie nts Ste ve Jo ffe Ja ne t Willia ms William Lawrence 12:15 PM WORK ING L UNCH 12:45 PM Se c o nd Da y Summa ry a nd Disc ussio n Ho wa rd Mc L e o d T e ri Ma no lio 1:30 PM Ne xt Ste ps T e ri Ma no lio Ho wa rd Mc L e o d 2:30 PM ADJOURN 5

Ge no mic Me dic ine VIII: NHGRI’s Ge no mic Me dic ine Po rtfo lio Glossar y of Abbr e viations MSA – Air F o rc e Me dic a l Se rvic e s Ag e nc y AF ClinGe n – Clinic a l Ge no mic s Re so urc e CMG – Ce nte rs fo r Me nde lia n Ge ne tic s CPIC – Clinic a l Pha rma c o g e ne tic s I mple me nta tio n Co nso rtium R – Clinic a l Se q ue nc ing E xplo ra to ry Re se a rc h CSE k – E le c tro nic Me dic a l Re c o rds a nd Ge no mic s Ne two rk e ME R GE Ne twor – E nc yc lo pe dia o f DNA e le me nts E NCODE G2MC – Glo b a l Ge no mic Me dic ine Co lla b o ra tive GA4GH – Glo b a l Allia nc e fo r Ge no mic s a nd He a lth GAPH – Ge no me Ca na da / Ca na dia n I nstitute s o f He a lth Re se a rc h Ge no mic s a nd Pe rso na lize d He a lth – Ge no mic s o f Ge ne Re g ula tio n GGR – Ge no me Se q ue nc ing I nfo rma tic s T o o ls GS- IT x – Ge no type T issue E xpre ssio n Pro je c t GT E H3Afr ic a – Huma n He a lth a nd He re dity in Afric a N – He a lth Ma inte na nc e Org a niza tio n Re se a rc h Ne two rk HMOR IGNIT E – Imple me nting Ge no mic s into Pra c tic e IOM – I nstitute o f Me dic ine ISCC – I nte r-So c ie ty Co o rdina ting Co mmitte e fo r Pra c titio ne r E duc a tio n in Ge no mic s SAC – L a rg e -Sc a le Ge no me Se q ue nc ing a nd Ana lysis Ce nte rs pro g ra m L MVP – Millio n Ve te ra ns’ Pro g ra m – Adjuva nt L ung Ca nc e r E nric hme nt Ma rke r I de ntific a tio n a nd Se q ue nc ing T ria ls, g e ne tic a lly NCI- AL CHE MIST dire c te d Na tio na l Ca nc e r I nstitute tria l CH – Mo le c ula r Ana lysis fo r T he ra py Cho ic e , g e ne tic a lly dire c te d Na tio na l Ca nc e r Institute tria l NCI- MAT NHGR I GMWG - NHGRI Ge no mic Me dic ine Wo rking Gro up – Ne wb o rn Se q ue nc ing in Ge no mic Me dic ine a nd Pub lic He a lth NSIGHT PAGE – Po pula tio n Arc hite c ture using Ge no mic s a nd E pide mio lo g y ne t – Pa tie nt-Ce nte re d Outc o me s Re se a rc h Ne two rk PCOR PGR N – Pha rma c o g e ne tic s Re se a rc h Ne two rk Phe nX – Phe no type s a nd E xpo sure s T o o lkit PMI – Pre c isio n Me dic ine Initia tive UDN – Undia g no se d Dise a se s Ne two rk USAF – U.S. Air F o rc e 6