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Integrating Large-Scale Genomic Information into Clinical Practice Workshop Summary (2012) / Chapter Skim
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2 The Realization of Genomic Medicine
Pages 5-10

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From page 5...
... Leslie Biesecker of the National Human Genome Research Institute said that patients come into the health care system to get answers to three simple questions: What is wrong with me? What caused it?
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From page 6...
... However, clinical laboratories routinely perform multiple tests when a single test is ordered because it is more cost-effective. If one of the non-requested tests on the resultant panel reaches a "panic" value, this is 1 Hypothesis-generating research is defined as an exploratory approach to science whereby an initial experiment, designed with a broad question in mind, produces a large amount of data or observations that can be used to formulate hypotheses that can be tested by directed experiments in the future.
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From page 7...
... Clinicians should not have to become geneticists, Biesecker said. Clinicians need to be able to use the majority of genomic data for routine clinical care and be able to recognize situations involving critical abnormalities that require the involvement of specialists, such as genetic counselors and clinical geneticists.
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From page 8...
... Specialists applying informatics tools to sequence information in this context could in turn teach generalists and make the tools more user-friendly. THE CLINSEQ PROJECT As an example of an infrastructure-building project, Biesecker described a cohort study called ClinSeq, a large-scale pilot sequencing study involving about 1,000 participants that Biesecker and his colleagues began in 2006 to evaluate candidate genes associated with cardiovascular outcomes such as coronary artery calcification.
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From page 9...
... The many thousands of functional genes in the human genome provide pathways to similar phenotypic endpoints that are grouped together and interpreted as distinct diseases. According to this hypothesis, the underlying heterogeneity of common diseases explains the variation routinely seen in the disease progression, severity, therapeutic response, and side effects of therapies.
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From page 10...
... "They are very disruptive. A lot of people get harmed by them, and they have manifold unanticipated consequences." Instead, he said, he prefers to think of the changes going on today and anticipated for the future as evolutionary.
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Key Terms

  • genomic data
  • genomic information
  • rare diseases
  • medicine biesecker
  • clinical utility

  • common diseases
  • improve patient
  • biesecker described
  • clinseq cohort
  • patient care

  • regenerate genomic
  • bringing genomic
  • reserving genomic
  • interpret genomic
  • rare recessive

  • additional clinical
  • clinical applications
  • clinical geneticists
  • clinical care
  • clinical insight

  • clinical laboratories
  • reveal rare
  • using rare
  • clinical scenarios
  • rare metabolic

  • routine clinical
  • involving critical
  • recessive metabolic
  • biesecker suggested
  • patient health


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