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Assessing Genomic Sequencing Information for Health Care Decision Making Workshop Summary (2014) / Chapter Skim
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6 Addressing Challenges
Pages 61-66

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From page 61...
... BOX 6-1 Topics That Were Addressed During the Workshop David Veenstra, the workshop chair, listed several points that had been mentioned repeatedly during the course of discussion about evaluating evidence: • Greater consensus, or at least consistency, in the ways that genomic data are gathered, analyzed, graded, reimbursed, and used to shape practice guidelines could greatly advance their application in the clinic. • The context in which genomic information is to be used can be a major influence on that use.
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From page 62...
... (Goddard) • Establishing central repositories for clinically relevant vari ants and phenotypes and encouraging laboratories to con tribute to it would provide resources with a standardized format for studying the clinical validity of gene–phenotype associations.
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From page 63...
... With regard to reimbursement, Shashikant Kulkarni, director of cytogenomics and molecular pathology at the Washington University School of Medicine, observed that work is under way to identify genetic tests with established clinical utility so that reimbursement makes sense. But a lack of information about next-generation sequencing hinders reimbursement decisions.
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From page 64...
... "There is a significant body of data out there which we and others are mining: the Cancer Genome Atlas and the International Consortium of Cancer Genomics, which is beginning to produce an enormous amount of data," Kulkarni said. "Still, it's a huge amount of data which has to be mined." The data analysis and interpretation is time consuming, so even with a significant amount of information, he said, the field of oncology suffers from a similar lack of evidence for the majority of genetic variants.
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From page 65...
... Jessica Everett of the University of Michigan Comprehensive Cancer Center noted, however, that the sequencing of family members is typically not reimbursed, even when the information would be extremely useful in understanding a condition. Large-scale genome sequencing efforts are now under way in the United States,1 the United Kingdom, and Saudi Arabia,2 Green said (Callaway, 2013)
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From page 66...
... The way these issues can be addressed, he said, is by continuing to increase our understanding of how policy and treatment decisions are made in an era of limited evidence and a large volume of information.
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Key Terms

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  • rigorous practice
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  • molecular pathology
  • sequencing efforts

  • individual workshop
  • clinical trials
  • nanograms provides
  • unselected populations
  • sufficient sensitivity

  • residency programs
  • larger population
  • genomes compared
  • genomic sequencing
  • populations instead

  • clinical studies
  • hill agreed
  • netic variants
  • relevant resource
  • similar lack


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