NHG NHGRI RI Genom enomic c Medi edicine e Activi vities - - PowerPoint PPT Presentation

NHG NHGRI RI Genom enomic c Medi edicine e Activi vities

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

• f Health and

Human Services

U.S. D Depar epartmen ent of

• f Heal

ealth and h and Hum uman an Ser ervices Nat ation

• nal

al I Ins nstitutes es of

• f H

Heal ealth Nat ation

• nal

al H Hum uman an G Geno enome R Res esea earch h Ins nstitute

Ter eri i Manol anolio, M.D., Ph. h.D. Genom enomic Medic edicine IV, Dal allas TX

Jan anuary 29, 29, 201 2013

NHGRI G Genomi enomic Medi c Medicine D ne Def efini nition

• n

Augus ugust 2012 2012

Genomic Medicine: An emergi ging ng medical al discipl pline ne that invol

• lves

es using ng genom

• mic informat

ation

• n about

ut an individual dual as part

• f thei

eir clini nical car are e (e. e.g. g., for diagn agnostic or ther herapeu eutic deci cisi sion-mak aking) ng) and the other er implicat ations

• ns of that clini

nical al use.

• Purposefully narrow
• By ‘genomic,’ NHGRI means direct information about DNA
• r RNA; downstream products outside immediate view
• Dominant portion of NHGRI’s portfolio will continue to

support basic research underpinning genomic medicine

• Fourth and fifth NHGRI strategic plan domains capture

research activities under umbrella of genomic medicine

• Metaphorically viewed as key ‘destination’ for attaining

mission of improving health through genomics research

Genomi enomic Medi c Medici cine ne Wor

• rki

king G ng Group of

• up of Nat

ational

• nal

Adv dvisor sory C Counc

• uncil on
• n Human

uman Genome R enome Res esea earch ch

• Plan Genomic Medicine meetings, 2-3 per yr
• Provide guidance to NHGRI in other areas of

genomic medicine implementation, such as:

• Outlining infrastructural needs for adoption
• f genomic medicine
• Identifying related efforts for future

collaborations

• Reviewing progress overall in genomic

medicine implementation

Genomi enomic Medi c Medici cine ne Wor

• rki

king G ng Group

• up

Member Members

Rex Chisholm Northwestern Jim Evans UNC Geoff Ginsburg Duke Pearl O'Rourke Partners Mary Relling

• St. Jude

Dan Roden Vanderbilt Marc Williams Geisinger Eric Green NHGRI Teri Manolio NHGRI Brad Ozenberger NHGRI

Scita table le Netw tworkin ing Site Site

Li Link nk thro hrough “G h “Geno enomic Medi edicine e Ac Activi vities” es” http: p://www.ge genom nome. e.gov/ gov/27 275492 549225 25

Impl mplicat cating S ng Sequenc equence V e Var ariant ants i in n Human uman Disease W sease Wor

• rks

kshop: hop: S Sept ept 12 12-13, 13, 2012 2012

Goal: To develop guidelines for assessing the evidence implicating sequence variants or genes as causal in a specific disease.

Recen ecent A Adv dvan ances i s in n Geno enomic Medi Medici cine

http://www.genome.gov/27551536

Genomi enomic Medi c Medici cine ne Col

• lloqui
• quium

um R Repor eport June une 2011, 2011, Chi hicago, cago, I IL

Genet Med 2012 Jan 10; epub before print.

• Describe ongoing projects and challenges
• Identify common infrastructure and research

needs

• Outline implementation framework for

investigating and introducing similar programs elsewhere

NHGRI G Genomi enomic Medi c Medicine Meet ne Meeting ngs, s, 2011 2011

• GM Colloquium, June 2011, Chicago IL

– Define landscape, identify commonalities – Develop implementation roadmap to share experiences and facilitate adoption

• GM II, December 2011, Bethesda MD

– Identify potential collaborative projects – Explore requirements for adoption with institutional leaders

NHGRI G Genomi enomic Medi c Medicine Meet ne Meeting ngs, s, 2012 2012-2013 2013

• GM III, May 2012, Chicago IL

– Review early progress from pilot project working groups – Explore implementation barriers and solutions with payers and other stakeholders

• Payers’ Meeting, October 2012, Bethesda MD

– Identify potential for collaborative research and joint funding

• GM IV, January 2013, Dallas TX

– Professional societies’ needs for physician education and guideline development

Rapi apid E d Evol

• lut

ution

• n
• GM I. There is significant action in Genomic

Medicine

• GM II. Healthcare providers care about

Genomic Medicine

• GM III. Those who pay for healthcare care

about Genomic Medicine

• GM IV. Professional organizations and

physicians care about Genomic Medicine

Larson, G. The Complete Far Side. 2003.

Avoi

• idi

ding Meet ng Meeting H ng Hel ell

Genomi enomic c Medi Medici cine F ne Fundi unding ng Oppor pportuni unities es

Genomi enomic c Medi Medici cine P ne Pilot

• t Demonst

emonstration

• n

Proj

• ject

cts: s: R RFAs s HG-12 12-006 and 006 and HG-12 12-007 007

Genomi enomic c Medi Medici cine P ne Pilot

• t Demonst

emonstration

• n

Proj

• ject

cts: s: R RFAs s HG-12 12-006 and 006 and HG-12 12-007 007

Purpose: Demonstrate feasibility of, and develop methods for, incorporating patients’ genomic findings into their clinical care Goals:

• 1. Expand existing GM efforts and develop new

projects and methods, in diverse settings

• 2. Contribute to evidence base regarding
• utcomes of implementing GM
• 3. Define and disseminate processes of GM

implementation, diffusion, and sustainability in diverse clinical settings

Genomi enomic c Medi Medici cine P ne Pilot

• t Demonst

emonstration

• n

Proj

• ject

cts: s: R RFAs s HG-12 12-006 and 006 and HG-12 12-007 007

• Applications Received: July 19, 2012
• Review: December, 2012

Ebony Bookman Heather Junkins

Larson, G. The Complete Far Side. 2003.

Clini nical cally R y Rel elevant evant G Genet enetic V c Var ariant ants Res esou

• urce:

ce: R RFA H HG-12 12-016 016

Clini nical cally R y Rel elevant evant G Genet enetic V c Var ariant ants Res esou

• urce:

ce: R RFA H HG-12 12-016 016

Purpose: Develop and disseminate consensus information on variants relevant for clinical care. Goals:

• 1. Identify variants with likely clinical implications
• 2. Develop resource of these variants and their

supporting evidence for use by professional

• rganizations for guideline development
• 3. Build upon existing programs and reduce

duplicative efforts to identify such variants

• Applications Received: October 23, 2012
• Review: February, 2013

Erin Ramos

• Stay tuned…

Clini nical cally R y Rel elevant evant G Genet enetic V c Var ariant ants Res esou

• urce:

ce: R RFA H HG-12 12-016 016

Clini nical cal S Sequenc equencing E ng Expl plorat ator

• ry R

Res esea earch: ch: RFAs FAs H HG-12 12-008 and 008 and 12 12-009 009

Clini nical cal S Sequenc equencing E ng Expl plorat ator

• ry R

Res esea earch: ch: RFAs FAs H HG-12 12-008 and 008 and 12 12-009 009

Purpose: Investigate challenges to applying genomic sequence data to the care of patients. Goals:

• 1. Generate clinically valid genomic sequence

data relevant to individual patient’s care

• 2. Interpret and translate these data for the

physician and communicate to the patient

• 3. Examine the ethical and psychosocial

implications of bringing broad genomic data into the clinic

Clini nical cal S Sequenc equencing E ng Expl plorat ator

• ry R

Res esea earch: ch: RFAs FAs H HG-12 12-008 and 008 and 12 12-009 009

• Applications Received: July 26, 2012
• Review: October 2012/January 2013

Lucia Hindorff Brad Ozenberger

• Stay tuned…

Genomi enomic S c Sequenc equencing and ng and New ewbor born n Screeni eening D ng Disorder ders: R RFA H HD-13 13-010 10

Genomi enomic S c Sequenc equencing and ng and New ewbor born n Screeni eening D ng Disorder ders: R RFA H HD-13 13-010 10

Purpose: Explore the possible use of genomic sequence information in the newborn period Goals:

• 1. Acquire and analyze genomic datasets in the

newborn period;

• 2. Advance understanding of specific disorders

identifiable via newborn screening through promising new DNA-based analysis

• 3. Examine ethical, legal and social implications
• f possible implementation of genomic

sequencing of newborns

Genomi enomic S c Sequenc equencing and ng and New ewbor born n Screeni eening D ng Disorder ders: RFA FA HD-13 13-010 10

• Applications Received: November 19, 2012
• Review: February, 2013

Anastasia Wise

• Stay tuned…

Enhanc nhanced P ed Par artne nershi ship w p with h Phar harmacogeno acogenomics cs R Res esear earch N h Net etwor

• rk

http://www.nigms.nih.gov/Research/FeaturedPrograms/PGRN

Col

• llabor

aborat ative N e NHGRI P Phar harmacogenom cogenomics cs Pr Proje ject w with ith PG PGRN in in eMERGE RGE Netwo work

• PGRN’s Very Important PGx (VIP) Gene

Sequencing: array developed to identify rare sequence variants in 85 PGx genes

• eMERGE-PGx will apply validated VIP array for

discovery and clinical care in ~9,000 patients

• Can be exported to other CLIA-certified labs
• Permit genotyping of common and rare

variants and discovery of new ones

• Use PGRN’s Clinical PGx Implementation

guidelines and institutional approvals for influencing clinical care

eMERGE RGE-PGRN P Par artne nershi ship p

• State of art PGx

array

• Ability to update
• Drug-gene

guidelines

• CLIA standards

and QC

• Privacy

concerns

• Electronic

phenotyping

• Large pt base
• Less PGx-

focused labs

Sel elec ected d NHGRI Genom enomic Medi edicine ne Activities

Ongoi ngoing Planned nned …………………… …. eMERGE GE CSER SER PhenX enX GM GM Mtgs tgs CRV CRVR GM GMDP New ewbor born Seq eq FHx Variant/Assoc Discovery + + ++ Transportable Phenotypes ++ ++ Evidence Generation ++ ++ ++ + + Variant Clinical Implications ++ ++ + ++ + Consent, Concerns + ++ + ++ + Variant Reporting and Use in Care + ++ + Clinician/Pt Educ ++ + + + + + Decision Support + + + + + Policy Devel + + + +

CSER, Clinical Sequencing Exploratory Research; PhenX, Phenotype and Exposure Toolkit; CRVR, Clinically Relevant Variants Resource; FHx, Family History Implementation

Larson, G. The Complete Far Side. 2003.

NHGI Strategic Plan - 2011

We e Mi Might ght G Get et T Ther here e Bef efor

• re 2020

e 2020

Green een ED, Guyer er MS. Nature e 2011; 11; 470: 0:204 204-13. 3.

NHGI Strategic Plan - 2011

Many Many T Thank hanks s - Genomi enomic Medi Medicine Meet ne Meeting ng Par articipant pants and and Inf nfrast struct ctur ure

Par artne nershi hips P s Per ermit R Rapi apid d Res espon ponse se to

• Press

essing C ng Clini nical cal Q Quest uestion

• ns