NCI WorkshopBethesda, MDMay 3 – 4, 2012

Next-Generation DNA Sequencing as a Tool for Clinical Decision-making in

Cancer Patient Management

Challenges

• Rapidly Changing Landscape– Pace of technology development– Pace of information generation (TCGA, 1000

Genomes)– Need for larger, diverse research teams– Trial designs– Cost– Regulatory issues

Technology

• Genome sequencing has become faster, cheaper

• Several platforms already in use • New platforms sequence “deeper”, faster• Produce copious amounts of data• Patients already having sequencing done;

presenting data to their clinicians for interpretation and ACTION.

• Data on what action is appropriate is sparse

Data Analysis

• High dimensional: more data than samples• Few experts: each experiment has “unique”

modeling algorithm• Repeatability• Validation (samples, data)• Data integrity (quality assurance, control)

Diagnostic Development: research test to clinical utility

Necessary Assay Characteristics

• Reproducible (intra and inter lab; ? Inter platform)

• Clinically validated in more than one set of appropriate samples

• Clinically useful• ?Predictive

Goals

• Bring together multidisciplinary experts to enhance communication

• Define hurdles• Develop recommendations to overcome

current obstacles

Agenda/Outcome

• Short talks with question period– Analytic issues– Data analysis/bioinformatics– Clinical/regulatory

• Breakout sessions• Reporting session• Meeting report

Meeting Planning: Thanks

• Margo Cavenagh• FDA CDRH:

– Elizabeth Mansfield• Association of Molecular Pathology

– Jane Gibson, Mel Limson, Mary Williams• NCI

– Jack R. Collins, Sean Davis, John Jessup, Lisa McShane, Paul Meltzer, Mei Polley, Mark Raffeld, JoyAnn Phillips Rohan, Robert Stephens, Liquiang Xi