NHGRI Genomic Medicine Meeting 6/29/11 - Genome.gov

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Genomic MedicineNational HumanGenome ResearchWorking Group UpdateU S Department of Health and Human.
National ServicesInstitutes ofHealth National Institutes of HealthNational Human Genome ResearchTeri Manolio M D Ph D .
National Advisory Council on HumanU S Department Genome Researchof Health andHuman Services September 21 2015 NACHGR Genomic Medicine.
Working Group MembersCarol Bult Jackson LabRex Chisholm NorthwesternGeoff Ginsburg DukeHoward Jacob HudsonAlpha.
Howard McLeod Moffitt Cancer CtrMary Relling St JudeDan Roden VanderbiltMarc Williams GeisingerEric Green.
Teri ManolioLaura Rodriguez Genomic Medicine Working Group Assist in advising NHGRI on research needed toevaluate and implement genomic medicine.
Review current progress identify researchgaps and approaches for filling them Identify and publicize key advances Plan genomic medicine meetings on timely Facilitate collaborations coordination.
Explore models for long term infrastructureand sustainability of resulting efforts Genomic Medicine Colloquium June GM IV Physician Education Jan 2013GM VIII NHGRI s GenomicGM VII Genomic CDS Oct.
Medicine Programs JuneGM II Forming Collaborations Dec GM V Federal Strategies May 2013GM III Stakeholders May 2012 GM VI Global Leaders Jan 2014Leaders in G2M SJS .
Trans Genomic Genomic Medicine VIII NHGRI sGenomic Medicine Programs June 8 9 Objectives Review NHGRI s genomic medicine.
portfolio identify gaps opportunities forcollaborations Identify related programs of other NIH ICsor other funders and opportunities forcollaborations.
Identify research needs in genomicmedicine for NHGRI and partner agencies Enhance approaches to capturing anddisseminating best practices NHGRI s Genomic Medicine.
Program Summaries Title website funded sites Objectives Funding period and FY14 Current working groups.
Resources and tools Key publications Major obstacles or needs Approaches to meet needs Common Objectives of NHGRI s.
Genomic Medicine Programs Integrate genomic data into patient care Incorporate actionable variants into EMR Educate clinicians and patients ongenomics in clinical care.
Assess outcomes of using genomicinformation in clinical care Define and share processes ofimplementation Promote interaction and collaboration .
reduce duplication Translate implementation outside highly Specific Goals of Genomic MedicineNSIGH CSE eMERG IGNIT ClinGeImprove genomic dx.
Facilitate research in undiag nosed Mendelian diseasesInvestigate use of genomicdata in newborn careDevelop electronic.
phenotypesIdentify variants related tocomplex traitsCharacterize Pgx variantsand use in care.
Assess penetrance ofpotentially actionable Standardize clinicalannotation and interpretation.
Assess actionability of genes Barriers Facing Multiple Programs Lack of evidence base Need for common data elements Frequency impact of variants in.
ancestrally diverse populations Rapid evolution of evidence on variants Limited usefulness and interoperability Regulations impeding return of results Need for cloud computing.
Reimbursement policies and regulations Need for bedside back to bench research Panel Topics Questions to Answer1 Evidence gaps 1 Importance andimpact of topic.
2 Variantinterpretation 2 Current programs3 Changing evidence addressing it4 Program metrics 3 Gap areas and oropportunities.
5 EHR functionality6 Patient diversity 4 Synergies across7 Clinical workflow5 Training8 Education training opportunities and or.
9 Patient facing tools needs Heavily Discussed GM VIIIRecommendations 1 Generating evidence Maximize sharing of quality.
improvement QI projects by engaginghealth systems Establish and maintain a knowledgebaseof ongoing genomic medicine studies Data sharing and improved phenotyping.
Support standards for phenotypedescription that are common andcomparable across model organisms to Develop patient oriented ontology and Heavily Discussed GM VIII.
Recommendations 2 Identifying and carrying out innovative Engage basic scientists more actively inplanning of genomic medicine programs Add FHx to large scale sequencing effort.
to produce 20K individuals with both determine how when FHx adds to Study impact and consequences ofchanges in variant annotation and duty Facilitating genomic medicine.
implementation Heavily Discussed GM VIIIRecommendations 3 Health disparities and patient engagement Identify specific health disparities.
research questions related to genomics Develop dedicated programs for non EApopulations to fill key gaps Increase patient engagement in NHGRIgenomic medicine programs.
Education and Training Explore joint training opportunities ingenomic medicine with otherorganizations Identify and disseminate best practices.
for clinician education and guidance Top 10 Rankings of GM8Highest Rated RecommendationsRecommendations0 2 4 6 8 10.
Mean Ranking 1 Highest Highest Ranked GM VIIIRecommendations 1 Measure outcomes of value to patients clinicians payers involve them in design.
prior to launching studies 2 7 Add FHx tool to large scale sequencingeffort to produce 20K individuals withboth determine when FHx adds tosequence information 3 5 .
Identify types of evidence and goals theysupport to collect and share acrossprograms 4 0 Accelerate rapid genotype phenotypeexplorations at speed that would benefit.
patients 4 1 Highest Ranked GM VIIIRecommendations 2 Facilitate coverage with evidencedevelopment studies through payers 4 3 .
Identify payers needs for evidence acrossdiverse payers integrate with HCSRN andAHIP 4 5 Conduct post marketing studies of genetictesting similar to pharmacovigilance studies.
Encourage agreed upon nomenclature variant definitions and unique allelicidentifiers needed for computing by CDS Create computable guidelines that can bereadily integrated with CDS systems if.
Immediate Plans for Follow Up Engage basic scientists in GM9 meeting onbedside back to bench Phenotypes c wmodel organisms.
Variantnomenclature Functionannotation Immediate Plans for Follow Up.
Engage basic scientists in GM9 meetingon bedside back to bench Pursue infrastructure needs internally Knowledgebase of genomic medicine Patient oriented ontology.
Implementation commons Common data elements Increased patient engagement Comparative effectiveness research WGS vs targeted panel sequencing.
WGS w vs w o adequate FHx Many Thanks Alice Bailey Rongling Li Carol BultEbony Bookman Nicole Rex ChisholmJoy Boyer Lockhart Geoff Ginsburg.
Lisa Brooks Jean McEwenHoward JacobD Colantuoni JacquelineHoward McLeodCati Crawford Odgis.
Mary RellingEric Green Erin RamosLucia Hindorff Laura Dan RodenJean Jenkins Rodriguez Marc WilliamsHeather Junkins Elle Silverman GM Mtg.
Simona Volpi Participts Over to You Please comment on GMWG s recentactivities Advise on priorities of the major.
recommendations of the GenomicMedicine VIII meeting and NHGRI s rolein pursuing themGenomic Medicine Working Group - Charge. Assist in advising NHGRI on research needed to evaluate and implement genomic medicine. Review current progress, identify research gaps and approaches for filling them. Identify and publicize key advances. Plan genomic medicine meetings on timely themes. Facilitate collaborations, coordination

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