FEB 22, 2017 06:00 AM PST

GenomeFIRST ™ A new paradigm for the return of genomic results

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  • Director, Genomic Medicine Institute Geisinger Health System
      My primary interest has been to study the impact of implementing genetics, genomics and family history in routine clinical care. Successful implementation requires the application of many disparate elements including technology assessment, modeling and decision analysis, the science of behavioral change, quality improvement, knowledge management, informatics, health care economics and patient-centered outcomes all of which are components of the emerging discipline of implementation science. I am also very interested in defining the value proposition of new genomic technologies with value being simplistically represented as outcomes/cost. My research to date has examined the impact of family history on provider experience; the role of informatics to provide point-of-care, "just-in-time" education resources and passive decision support to clinicians regarding genetic topics; impact of tumor-based screening for Lynch syndrome (including extensive modeling to optimize the efficiency of the program); use of query tools to obtain information on genetic conditions from electronic data warehouses; and application of the tools of quality improvement to facilitate implementation of evidence-based best practices in genetics and genomics. I am now beginning to explore how we can get information from patients about their preferences including an assessment of the patient's location on the State of Change continuum and use those preferences to reconcile priorities regarding preventive and therapeutic interventions with the patient's provider to see if that will improve satisfaction for both and increase compliance with recommendations leading to measurable improvement in outcomes and improved value.


    The starting point for an interaction between a patient and a clinician is almost always a set of clinical facts (aka a phenotype). Phenotype-first medicine is the standard way in which the practice of medicine has traditionally proceeded. In fact, phenotype-first medicine has been the routine approach applied to genetics in medicine. For example, when a woman with a strong family history of breast or ovarian cancer is evaluated, and the potential use of DNA sequencing of the BRCA1 and BRCA2 genes is considered, it is the clinical fact that drives the decision of whether or not to obtain that genomic sequence information. GenomeFIRST™ Medicine (a subset of precision medicine) turns this process around by building systems that can be activated before "the problem" arises. This is care that is based on an individual's DNA sequence and it will be applied in some important settings without waiting for the emergence of a clinical phenotype. Our GenomeFIRST™ Medicine program takes a comprehensive approach to care that includes:

    1. Genomic screening.
    2. Interpretation of DNA sequence variants.
    3. Communication of interpretations to patients and providers.
    4. Support of patients and providers in the process of translating and clinically managing these results.

    This 21st Century medicine approach takes advantage of new DNA-sequencing technologies that are making DNA testing more accurate, less expensive and faster. We believe that this change will quickly lead us to a time when most of us will have our genome sequenced and available to inform our care.

    GenomeFIRST™ Medicine is rooted in a learning healthcare system approach (as defined by the Institute of Medicine) that is focused on "...the collaborative healthcare choices of each patient and provider; to drive the process of discovery as a natural outgrowth of patient care; and to ensure innovation, quality, safety and value in healthcare."


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