Privacy threats (FISMA compliance for UDN). X. X. Regulations impeding return of results. X XX X. Need for cloud computi
Barriers to genomic medicine implementation as identified by focus and related programs; “XX” indicates critical barrier.
PAGE
PCORNet
X X
X
X
X
X X
ISCC
LSAC
MVP
PAGE
PGRN
MVP
X
X
PGRN
LSAC
X X X
PhenX
ISCC
PCORNe t PhenX
IOM
X X
IOM
ClinGen
GS-‐IT
IGNITE
X
GS-‐IT
eMERGE
GTEx
CSER
X X X
GTEX
NSIGHT
GAPH
GM Mtgs X X
GAPH
ClinGen X X X X X X
CPIC
IGNITE X XX X XX XX X
CPIC
eMERGE X X X X X X X X
CMG
CSER X X X X X X X X X X X
G2MC
NSIGHT X
GM Mtgs G2MC G 2MC CMG
UDN X
Barriers Identified
DATA/INFORMATION NEEDS Evidence base for implement’n incl long-‐term outcomes Common data elements Development, validation of phenotypes Specific drug response phenotypes to add to trials Publicly available genotype/phenotype info Framework for classifying/curating actionable variants Unclear penetrance of actionable genes Frequency, impact of variants in ancestrally diverse pop’ns Loss of interoperability btwn sequence data repositories RAPIDLY EVOLVING NATURE OF GENOMIC INFO Evolving molecular testing panels Changes in evidence and subsequent treatment Division between discovery and implementation CLINICAL IMPLEMENTATION ISSUES High cost of sequencing, data processing Targeted testing vs genome-‐scale sequencing Limited use of standardized EMR terms, ontologies Concise, comprehensive, interoperable lab reports Integration of genomic data in learning healthcare system Turnaround in clinically emergent settings Use cases for genomic CDS development Limited usefulness and interoperability of CDS Rapidly evolving EMRs Limited transportability of clinical workflows, protocols Differing education needs across professional levels Returning incidental findings
Related Programs
UDN
Focus Programs
GTEX
GS-‐IT
IOM
ISCC
LSAC
MVP
PAGE
PCORNet
PhenX
PGRN
X
X X X X
X X
X
X X
GTEX
GS-‐IT
IOM
ISCC
LSAC
MVP
PAGE
PCORNet
PhenX
PGRN
ClinGen
GAPH
IGNITE
X X
GAPH
eMERGE
CPIC
CSER
UDN
X
CPIC
X X X X X
CMG
ClinGen
CMG
IGNITE
X X
GM Mtgs G2 G2MC MC
eMERGE
X X
UDN
REGULATORY NEEDS Central IRB Sharing identifiable data across collaborating sites Privacy threats (FISMA compliance for UDN) Regulations impeding return of results Need for cloud computing Reimbursement policies and regulations OTHER Lack of centralized iPS cell repository Installing and using sequence analysis software Different tools for variant calling give different results Finding and interpreting CNVs and SVs Difficulty focusing on specific genes in massive BAMs Need secure systems enabling access by many users Harnessing social media and crowdsourcing methods Increasing visibility and use of tools; tracking uptake Need for bedside back to bench research Publication standards for rapid research results Worldwide ascertainment of Mendelian families
