National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld...
Transcript of National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld...
![Page 1: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/1.jpg)
DIRECTOR’S REPORTDIRECTOR S REPORTNational Advisory CouncilNational Advisory Council
for Human Genome Research
September 2010
E i G M D Ph DEric Green, M.D., Ph.D.Director, NHGRI
![Page 2: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/2.jpg)
/Di t R tgenome.gov/DirectorsReportDocument #
![Page 3: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/3.jpg)
I. General NHGRI UpdatespII. General NIH UpdatesIII. Genomics UpdatesIV NHGRI E t l PIV. NHGRI Extramural ProgramV NIH Common Fund ProgramsV. NIH Common Fund ProgramsVI. NHGRI Office of the DirectorVII. NHGRI Intramural Program
![Page 4: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/4.jpg)
Open Session PresentationsConcept Clearances:
Jean McEwen (ELSI)Susan Old (TRND)Joan Bailey-Wilson (Intramural)y ( )
Francis Collins: NIH Update
Jane Peterson: Human Microbiome Project
Bettie Graham, Kenneth Lange, & Janet Sinsheimer: NHGRI Training Programs
![Page 5: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/5.jpg)
I. General NHGRI UpdatespII. General NIH UpdatesIII. Genomics UpdatesIV NHGRI E t l PIV. NHGRI Extramural ProgramV NIH Common Fund ProgramsV. NIH Common Fund ProgramsVI. NHGRI Office of the DirectorVII. NHGRI Intramural Program
![Page 6: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/6.jpg)
February 2010: WATER
![Page 7: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/7.jpg)
Summer 2010: FIREForecast: Hot, with a chance
of sweltering and sizzling
High Temperatures ‐ Summer 2010
g g
100
105
g pBethesda, MD
85
90
95
°F
70
75
80High Average High
7
6/1
6/15
6/29 7/13
7/27
8/10
8/24
![Page 8: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/8.jpg)
July 16, 2010: EARTH
3 7 magnitude3.7-magnitude earthquake ‘wakes’ Maryland residentsMaryland residents
Quake centered near Gaithersburg; felt by as
many as 3 million people in Mid-Atlantic regionin Mid Atlantic region
![Page 9: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/9.jpg)
July 25, 2010: AIRMontgomery County hit by storms
with winds >75 mph>300,000 customers lost power
![Page 10: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/10.jpg)
NHGRI Leadership: Job Requirements
![Page 11: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/11.jpg)
New NHGRI Scientific Director
Document 1Daniel Kastner, M.D., Ph.D.
![Page 12: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/12.jpg)
NHGRI Leadership Update
Deputy DirectorScientific Director
Mark Guyer (Acting)Eric Green (Acting)
![Page 13: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/13.jpg)
NHGRI Deputy Director Search
Document 2
![Page 14: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/14.jpg)
NHGRI Strategic Planning ProcessAirlie ‘Finale Meeting’: July 6-8 2010Airlie Finale Meeting : July 6-8, 2010
![Page 15: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/15.jpg)
NHGRI Strategic Planning ProcessAirlie ‘Finale Meeting’: July 6-8 2010Airlie Finale Meeting : July 6-8, 2010
.__discussions_9958.jpg
![Page 16: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/16.jpg)
Airlie Meeting Remote ParticipantsVid ti f i iVideocasting of main sessions
Remote participants included an elite groupRemote participants included an elite group of ~100 genomics/genetics trainees
Microblog
![Page 17: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/17.jpg)
Airlie Meeting Microblog
![Page 18: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/18.jpg)
FY 2009 PECASE Awardees
Four NHGRI-related Researchers
Chuck Venditti Brian Brooks Manolis Kellis Bradley Malin
InvestigatorNHGRI
InvestigatorNEI
Adjunct Investigator
Associate ProfessorMIT
Extramural Grantee
Assistant Professor Vanderbilt
Extramural Grantee NHGRI NHGRI NHGRI
![Page 19: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/19.jpg)
NIH & NHGRI Appropriations Update
FY2010FY2010NIH: $31B (2.3% increase)NHGRI: $516M (2 7% increase)NHGRI: $516M (2.7% increase)
FY2011 (President’s Budget)NIH: $32B (3.2% increase)NHGRI: $534M (3.5% increase)
Document 3
![Page 20: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/20.jpg)
I. General NHGRI UpdatespII. General NIH UpdatesIII. Genomics UpdatesIV NHGRI E t l PIV. NHGRI Extramural ProgramV NIH Common Fund ProgramsV. NIH Common Fund ProgramsVI. NHGRI Office of the DirectorVII. NHGRI Intramural Program
![Page 21: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/21.jpg)
End of His Rookie Year
Document 4
![Page 22: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/22.jpg)
New Principal Deputy Director, NIH
Larry Tabak D D S Ph DDocument 5
Larry Tabak, D.D.S, Ph.D.
![Page 23: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/23.jpg)
New Deputy Director for Extramural Research, NIHResearch, NIH
Sally Rockey, Ph.D.
Document 6
y y,
![Page 24: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/24.jpg)
New Director, NIH Division of Program Coordination Planning and StrategicCoordination, Planning, and Strategic
Initiatives (DPCPSI)
Document 7James Anderson, M.D., Ph.D.
![Page 25: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/25.jpg)
New Director, NIH Office of Behavioral and Social Sciences Research (OBSSR)Social Sciences Research (OBSSR)
Document 8Robert Kaplan, Ph.D.
![Page 26: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/26.jpg)
New Director, National Institute of Child Health and Development (NICHD)Health and Development (NICHD)
Alan Guttmacher M DDocument 9
Alan Guttmacher, M.D.
![Page 27: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/27.jpg)
New Director, National Cancer Institute (NCI)
Ne NHGRI Intram ral In estigator
Harold Varmus, M.D.
New NHGRI Intramural InvestigatorDocument 10
![Page 28: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/28.jpg)
ARRA Report: August 24, 2010
“…we stand on the verge of bringing the cost of a human genome map below $1,000 …”
“…disease prevention work is phappening across the board: in human genome sequencing, cardiovascular disease cancercardiovascular disease, cancer, and autism.”
“ NIH ill b bl“…NIH will be able to sequence the genes of cancers that affect 10 million Americans …”
Document 11
![Page 29: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/29.jpg)
NIH Genetic Testing Registry
www.ncbi.nlm.nih.gov/gtr/
Document 12
![Page 30: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/30.jpg)
Therapeutics @ NIHC ti d i t d l t l ti itiContinued intense developmental activities
Therapeutics for Rare and Neglected Diseases (TRND) Program(TRND) Program
Cures Acceleration Network (CAN)
Presentation: Francis CollinsPresentation: Susan Old
![Page 31: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/31.jpg)
I. General NHGRI UpdatespII. General NIH UpdatesIII. Genomics UpdatesIV NHGRI E t l PIV. NHGRI Extramural ProgramV NIH Common Fund ProgramsV. NIH Common Fund ProgramsVI. NHGRI Office of the DirectorVII. NHGRI Intramural Program
![Page 32: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/32.jpg)
10th Anniversary: Draft Human Genome SequenceDraft Human Genome Sequence
Document 13
![Page 33: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/33.jpg)
The Economist Series on Genomics
Document 14
![Page 34: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/34.jpg)
NHGRI Science Writers Workshop
“ G f“The Human Genome: A Decade of Discovery, Creating a Healthy Future”Future
Goal: help science reporters write stories about the 10th anniversary of draft human genome sequence
Document 15
![Page 35: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/35.jpg)
USA Today: July 8, 2010
Document 13
![Page 36: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/36.jpg)
Legislation
H.R. 5440: The Genomics and Personalized Medicine Act
Francis Collins testifies at House Energy & Commerce Subcommittee on Health hearing:Commerce Subcommittee on Health hearing:
“NIH in the 21st Century: The Director’s Perspective”Perspective
Document 16
![Page 37: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/37.jpg)
Personal Genomics RegulationFDA t l tt t 21 DTCFDA sent letters to 21 DTC
genomics companies concerning lack ofconcerning lack of premarket approval fortheir teststheir tests
House Committee on Energy and CommerceEnergy and Commerce hearing on “Direct-To-Consumer GeneticConsumer Genetic Testing and the Consequences to theConsequences to the Public Health”
Document 17
![Page 38: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/38.jpg)
DTC Genetic Test Hearing
JimEvans
23 & Me Navigenics PathwayGenomicsEvans Genomics
![Page 39: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/39.jpg)
GAO Report on DTC Genetic Tests
Document 17
![Page 40: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/40.jpg)
Personal Genomics RegulationFDA h ld t d ti t li it bliFDA held a two-day meeting to solicit public
comments on how to proceed with regulation of lab developed tests (LDTs)regulation of lab developed tests (LDTs)
14 professional societies, 9 clinical labs, 26 companies, and 3 advocacy groups gave
bli tpublic commentsFears of excessive regulatory burdenCalls not to duplicate current efforts (CLIA, CAP)p ( , )Need to address software analysis toolsRole for NIH’s Genetic Test Registry?
However DTC genomics may not beHowever, DTC genomics may not be considered LDTs according to FDA
![Page 41: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/41.jpg)
Personal Genomes & Universities
Document 18
![Page 42: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/42.jpg)
Personal Genomes & Universities
Document 19
![Page 43: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/43.jpg)
AJCP Article on Pathology Training
Document 20
![Page 44: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/44.jpg)
Celebrity Genomes: Recent Addition
Document 21
![Page 45: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/45.jpg)
Celebrity Genomes: Future Addition?
Researchers at the U. of Copenhagen have theCopenhagen have the approval of Sitting Bull’s descendents to sequence qDNA from sample of his hair
If successful, would become the first ancient, non-frozen, Native American genome sequenced
Document 21
![Page 46: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/46.jpg)
CSHL Personal Genomes Meeting
![Page 47: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/47.jpg)
I. General NHGRI UpdatespII. General NIH UpdatesIII. Genomics UpdatesIV NHGRI E t l PIV. NHGRI Extramural ProgramV NIH Common Fund ProgramsV. NIH Common Fund ProgramsVI. NHGRI Office of the DirectorVII. NHGRI Intramural Program
![Page 48: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/48.jpg)
Large-Scale Sequencing Program: Organism SequencingOrganism Sequencing
Consortium published genome sequence of the g qPea Aphid
Washington University h bli h dresearchers published
the genome sequence of the Western Clawed Frogthe Western Clawed Frog
Document 22
![Page 49: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/49.jpg)
Large-Scale Sequencing Program: Organism SequencingOrganism Sequencing
Washington UniversityWashington University researchers publish the transcriptome of thetranscriptome of the hookworm (Ancylostomacaninum)caninum)
Document 23
![Page 50: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/50.jpg)
Large-Scale Sequencing Program: Medical SequencingMedical Sequencing
NIH-funded researchers identify MLL2ymutations as a cause of Kabuki syndrome
Document 24
![Page 51: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/51.jpg)
Harold Varmus on board affirms support for
The Cancer Genome Atlas (TCGA)Harold Varmus on board, affirms support for
TCGA, and pursues close collaboration with NHGRIwith NHGRI
TCGA research network submits manuscript on ovarian cancer
489 ovarian tumors examined for genomic copy number and structural changes, and for gene expression
Complete exome sequencing of 315 cases reveals >20,000Complete exome sequencing of 315 cases reveals >20,000 somatic mutations
Datasets made available for AML, colon, rectal, b t d kidbreast, and kidney cancers
![Page 52: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/52.jpg)
HapMap 3 Analysis Published
3rd ti3rd generation map of human genetic variationgenetic variation
Add d d fAdded data from 7 populations
Document 25
![Page 53: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/53.jpg)
1000 Genomes
1000 Genomes project releases data from pilot projects
Pilot paper will be published in early November
FTP site has more than 10 Gb of sequence data for 624 samplesseque ce data o 6 sa p es
Variants from the first 1100 samples tobe released by Novemberbe released by November
Document 26
![Page 54: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/54.jpg)
Large-Scale Population Sequencing
Wellcome Trust and Sanger InstituteSanger Institute announce the UK 10K projectp oject
In 3 years, plan to sequence:
Complete genomes of 4000 well-Complete genomes of 4000 wellphenotyped people
Exomes of 6000 people with ti l di dparticular disorders
Document 27
![Page 55: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/55.jpg)
DNA Sequencing Technology
10 new or continuing awards for $1,000 genome sequencing technology development grants
50 papers published this yearNew RFAs published (Deadlines: 10/2010,
10/2011, 10/2012)
Document 28
![Page 56: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/56.jpg)
ENCODE and modENCODE
• ENCODE Analysis Workshop in B l (J l 2010) f dBarcelona (July 2010) focusedon integrative analysis paper
• ENCODE will soon submit an ‘Users Guide’ paper for ENCODE data
• modENCODE close to submitting fly & worm integrated analysis papers
• Mouse ENCODE project (funded through ARRA) has begun submitting data to the ENCODE DCC at UCSC
![Page 57: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/57.jpg)
Centers of Excellence in Genome Science (CEGS)(CEGS)
One new award in 2010: George ChurchgRevised Program Announcement last yearA li ti t b id d tApplications to be considered at
February Council
Document 29
![Page 58: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/58.jpg)
ELSI Program$NHGRI received $1.8M FY 2010 OD
Bioethics Common Funds to support th ELSI h t dthree ELSI research grants and an administrative supplement
P t ti J M EPresentation: Jean McEwenThe Triennial ELSI Research Congress:
“Exploring the ELSI Universe”April 12-14, 2011Chapel Hill, NC
![Page 59: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/59.jpg)
RFAs published for Knockout MouseKnockout Mouse Program (KOMP)
RFAs published for Knockout Mouse Phenotyping Project (KOMP2)
KOMP on track to achieve goals at end ofKOMP on track to achieve goals at end of project (Fall, 2011)
![Page 60: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/60.jpg)
Informatics & Computational Biology
Quarterly meetings with NCBIImproved communication and coordinationImproved communication and coordinationTracking NHGRI projects at NCBIDiscuss project progress and resolve issuesp j p g
Vivien Bonazzi is official ‘liaison’ between NHGRI & NCBI (with help from Kris Wetterstrand)
![Page 61: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/61.jpg)
Informatics & Computational Biology
Beyond the Genome (Harvard Medical School, October 2010)( , )
Petascale Computing and Personalized Medicine(U. of Illinois, October 2010)
![Page 62: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/62.jpg)
I. General NHGRI UpdatespII. General NIH UpdatesIII. Genomics UpdatesIV NHGRI E t l PIV. NHGRI Extramural ProgramV NIH Common Fund ProgramsV. NIH Common Fund ProgramsVI. NHGRI Office of the DirectorVII. NHGRI Intramural Program
![Page 63: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/63.jpg)
Human Microbiome ProjectPublication of first collection of human
microbial genome sequencesHMP Research Network Meeting
August 31-September 2, 2010450 attendees
New awards in three areas:8 demonstration project (UH3s)5 technology development awards6 computational tools awards6 computational tools awards
Presentation: Jane Peterson
Document 30
![Page 64: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/64.jpg)
Genotype-Tissue Expression (GTEx)2 5 il t ith l f ll ti lti l2.5-year pilot with goal of collecting multiple
tissues (n>30) from 160 deceased donors for eQTL analysesfor eQTL analyses
Broad Institute awarded contract for Laboratory, Data Analysis, and y, y ,Coordinating Center contract
University of Miami will serve as the Brain Bank (whole brains sent there)
3-4 Biospecimen Source Sites (awards soon)Inaugural GTEx kick off meeting at end ofInaugural GTEx kick-off meeting at end of
SeptemberExternal Scientific Panel formedExternal Scientific Panel formed
Document 31
![Page 65: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/65.jpg)
Library of Integrated Network-basedCellular Signatures (LINCS)Cellular Signatures (LINCS)
Phase 1 Initiatives: RFA-RM-10-003: Large Scale Production ofRFA RM 10 003: Large Scale Production of
Perturbation-Induced Cellular Signatures (U54)RFA-RM-10-004: New Laboratory-based Technology
Development (receipt date: 02/22/2011)Development (receipt date: 02/22/2011)RFA-RM-10-005: Computational Tool Development
and Integrative Data Analyses (receipt date: 02/22/2011)
U54 Awards:U54 Awards: Todd Golub (Broad) & Tim Mitchison (Harvard)First meeting of grantees: Sept 27-28, 2010M ti l i t t t ll b ti & d t
Document 33
Meeting goal is to map routes to collaboration & data standardization
![Page 66: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/66.jpg)
Protein Capture ReagentsUlti t G l bl it fUltimate Goal: a renewable community resource of
high-quality affinity reagents for all human proteinsEnable a wide range of applications:Enable a wide range of applications:
Immunoprecipitation (ChIP, protein-protein interactions); immunostaining; arrays, etc.
Initially prioritize monoclonals; start with human transcription factors and imunoprecipitation
li tiapplicationsEncourage development of ‘near term’ better
alternativesalternativesChallenges: technical capabilities/range of
applications; scalability (cost, throughput, quality);applications; scalability (cost, throughput, quality); intellectual property
Document 34
![Page 67: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/67.jpg)
Human Heredity and Health in Africa (H3Africa)( )
June 22, 2010: NIH and Wellcome Trust announce partnership to supportannounce partnership to support population-based genome studies in Africa
NIH l d d $25 illi i C F dNIH pledged $25 million in Common Fund money over five years, with Wellcome Trust pledging an additional $12 million
Document 32
pledging an additional $12 million
![Page 68: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/68.jpg)
Human Heredity and Health in Africa (H3Africa)( )
Meeting in Oxford (August 2010) to discuss i tifi i i d l f th j tscientific vision and goals for the project
![Page 69: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/69.jpg)
I. General NHGRI UpdatespII. General NIH UpdatesIII. Genomics UpdatesIV NHGRI E t l PIV. NHGRI Extramural ProgramV NIH Common Fund ProgramsV. NIH Common Fund ProgramsVI. NHGRI Office of the DirectorVII. NHGRI Intramural Program
![Page 70: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/70.jpg)
NEJM Genomic Medicine Series
Document 35
![Page 71: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/71.jpg)
NHGRI Scientists Present Genomic Advances to Visiting JudgesAdvances to Visiting Judges
June 2010: 60 judges participated in an NIH ti i d tiNIH continuing education program “Genomics, Medicine, and Discrimination”Discrimination
Document 36
![Page 72: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/72.jpg)
Summer Workshop in GenomicsAugust 1-6, 2010August 1 6, 2010
35 Participants from 18 colleges/universities (
New collaboration with NIH Office of Intramural Training and Education around faculty mentoring
Document 37
![Page 73: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/73.jpg)
Carrier Screening Comes to College Sports
In April 2010, NCAA approved mandatory testing for sickle cell carrier status g
NHGRI researchers Larry Brody and Vence Bonham joined George Dover (JohnsBonham joined George Dover (Johns Hopkins) to publish a Perspective in NEJM
Document 38
![Page 74: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/74.jpg)
Sickle Cell Symposium
November 16-17, 2010
NIH Bethesda CampusNIH Bethesda Campus
Sponsored by NHGRISponsored by NHGRI and 7 other NIH Institutes/CentersInstitutes/Centers
Document 38
![Page 75: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/75.jpg)
Newborn Screening in the Genomics Era Workshop
NICHD-NHGRI Joint Workshop
Workshop
December 13-14, 2010Goal is to frame a research agenda for
stimulating interface between newborn screening and new genomic technologies
![Page 76: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/76.jpg)
Electronic Health Records and Genomic Information Workshopp
Two-day event in the late Spring 2011Will explore issues surrounding integrationWill explore issues surrounding integration
of genomic information into clinical electronic health/medical recordselectronic health/medical records
Stakeholders to include industry, academia, advocacy community state and federaladvocacy community, state and federal government
![Page 77: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/77.jpg)
USA Science & Engineering Festival
NHGRINIHEricFrancis
Document 39
![Page 78: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/78.jpg)
Deepwater Horizon Disaster
![Page 79: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/79.jpg)
Deepwater Horizon and NIH
NIH/NIEHS commit $28M for 5-year study of clean-up workers (to follow for 10-20 years)clean-up workers (to follow for 10-20 years)
Focus on clean-up workers because of likely heavy exposureheavy exposure
Few long-term studies of oil spill workersSuggestions of genotoxic effectsSuggestions of genotoxic effects
Plans to study other vulnerable populations, especially children and pregnant womenp y p g
Teri Manolio (NHGRI) and Harold Jaffe (CDC) leading DHHS effortsg S
Document 40
![Page 80: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/80.jpg)
I. General NHGRI UpdatespII. General NIH UpdatesIII. Genomics UpdatesIV NHGRI E t l PIV. NHGRI Extramural ProgramV NIH Common Fund ProgramsV. NIH Common Fund ProgramsVI. NHGRI Office of the DirectorVII. NHGRI Intramural Program
![Page 81: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/81.jpg)
Undiagnosed Diseases Program (UDP)
rarediseases.info.nih.gov
![Page 82: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/82.jpg)
Routine Media Coverage of UDP
People (June 2010)
![Page 83: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/83.jpg)
NHGRI Intramural Research Highlights
Colleen McBride(Multiplex Project)
Yingzi Yangg a g(Cell Polarity)
Elaine Ostrander
Document 41(Dog Genetics)
![Page 84: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/84.jpg)
Special Thanks!Special Thanks!
![Page 85: National Advisory CouncilNational Advisory Council for ... · Personal Genomics Regulation FDA h ld tFDA held a two-d ti t li it bliday meeting to solicit public comments on how to](https://reader036.fdocuments.us/reader036/viewer/2022070806/5f043e297e708231d40d03b8/html5/thumbnails/85.jpg)