Global implementation of genomic medicine: We are not alone

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Science Translational Medicine  03 Jun 2015:
Vol. 7, Issue 290, pp. 290ps13
DOI: 10.1126/scitranslmed.aab0194
  • Teamwork: Clearing of hurdles to the clinical translation of genomic medicine demands a unified focus.

  • Table 1 Haves and have nots.

    Selected current and desired genomic medicine capabilities across participating countries and regions (number surveyed = 25).

    Today (%)Desired in 3 to 5 years (%)
    CapabilityNot at allSpecialized centersWidely availableNot at allSpecialized centersWidely available
    Germline sequencing236611117217
    Tumor sequencing177211116029
    Newborn sequencing64360117217
    Maternal-fetal DNA sequencing29656116623
    Rare disease diagnosis2371667717
    Microbial pathogen identification177211113653
    RNA profiling50500116623
    Systematic family history17364662371
    Genetic counselors23473061777
    Clinical-decision support3333336094
  • Table 2 Genomic medicine: Barriers to implementation.
    Lack of evidence of the effectiveness of genomic interventions and related codependent technologies* as well as expertise and training programs in genetics, genomics, informatics, and statistics
    High cost and lack of reimbursement for tests and codependent technologies
    Need for evidentiary thresholds for genomic testing; quality-control standards for genome technologies; and databases with genomic variants linked to clinical phenotypes
    Lack of consensus on what investments are needed in research and health care capacity for effective, sustainable implementation
    Limited access to educational information and reliable standardized genotyping or sequencing platforms
    Lack of bioinformatics and EMR infrastructure to order, receive, act on, and follow up results and assess the impact of clinical interventions
    Concerns over consent and privacy
    Need to align genomic research with the future burden of disease and health needs of patients and populations and the development of genomic tests with the development of effective co-dependent technologies
    Need to consider ethical and legal aspects of the ownership of genomic information and manage competing interests in a fair and transparent manner

    *A codependent health technology is one that depends on a second technology to achieve or enhance the intended effect, such as a diagnostic test used to determine a patient subgroup that is most likely to respond to a new medication. []

    • Table 3 Opportunities for international collaborations.
      Evidence generation
      Catalog ongoing evidence-generating projects
      Assess availability of data and specimens
      Define standards for evidence
      Establish standards for genetic and genomic tests
      Encourage development of professional practice guidelines
      Identify countries/systems willing to enable access to patient data
      Develop systems to capture outcomes from EMRs and other clinical systems
      Health information technology
      Define key elements that should be stored in EMR
      Identify and share existing IT solutions that are more robust and generalizable (clinical decision support, variant databases, informatics pipelines)
      Develop global resource for actionable clinical variants
      Define and link necessary federated databases needed to implement genomic medicine
      Collect and aggregate gene and variant data [for example, Exome Aggregation Consortium (ExAC), ClinVar]
      Develop controlled vocabulary for phenotypes (ontology); identify available ontologies
      Establish clearinghouse of genomic medicine implementation guidelines
      Education/workforce development
      Genomics professionals
      ○ Collect data on genomic professional workforce and training in different countries
      ○ Summarize existing workforce surveys and conduct new ones as needed
      ○ Share competencies and training paradigms
      ○ Compare training paradigms for geneticists and identify best practices
      ○ Examine extending current capabilities by telemedicine and other remote approaches
      Other health professionals
      ○ Examine curricula and determine where genetics competency training can be accommodated
      ○ Define necessary genomic competencies for trainees at completion of training, which may differ across regions/countries
      ○ Deploy new educational tools, such as distance learning
      ○ Develop region/country-specific teaching materials, perhaps on common templates
      ○ Adapt existing products and activities, such as DNA Day, to specific cultures
      ○ Extend to students at secondary school level
      ○ Engage patient support groups to sponsor programs, develop and distribute educational materials
      ○ Provide clearinghouse for accumulated educational resources
      ○ Consider novel educational paradigms
      Promote improved quality-of-evidence base for pharmacogenomics implementation
      Prioritize for study and implementation inexpensive drugs with risk of treatment failure or severe adverse drug reactions likely to be limited to genetically defined subset
      Develop and pilot large-scale implementation project around successful programs such as global eradication of genetically mediated SJS/TEN
      Data sharing and regulatory issues
      ○ Map current activities and issues being addressed
      ○ Perform gap analysis
      ○ Establish “network of networks” in policy development to share information
      Costs and benefits
      ○ Identify burdens of disease and points in care pathway where genomic tools would integrate and have the greatest impact on outcomes
      ○ Improve capacity for conducting convincing economic, feasibility, and sustainability analyses
      ○ Perform economic, feasibility, and sustainability analyses from perspective of different stakeholders, such as payers, delivery systems, national health services
      ○ Engage payers and payment decision processes
      ○ Work in and learn from systems with one or a few centralized payers

    Supplementary Materials

    • Supplementary Material for:

      Global implementation of genomic medicine: We are not alone

      Teri A. Manolio,* Marc Abramowicz, Fahd Al-Mulla, Warwick Anderson, Rudi Balling, Adam C. Berger, Steven Bleyl, Aravinda Chakravarti, Wasun Chantratita, Rex L. Chisholm, Vajira H. W. Dissanayake, Michael Dunn, Victor J. Dzau, Bok-Ghee Han, Tim Hubbard, Anne Kolbe, Bruce Korf, Michiaki Kubo, Paul Lasko, Erkki Leego, Surakameth Mahasirimongkol, Partha P. Majumdar, Gert Matthijs, Howard L. McLeod, Andres Metspalu, Pierre Meulien, Satoru Miyano, Yaakov Naparstek, P. Pearl O'Rourke, George P. Patrinos, Heidi L. Rehm, Mary V. Relling, Gad Rennert, Laura Lyman Rodriguez, Dan M. Roden, Alan R. Shuldiner, Sukdeb Sinha, Patrick Tan, Mats Ulfendahl, Robyn Ward, Marc S. Williams, John E. L. Wong, Eric D. Green, Geoffrey S. Ginsburg*

      *Corresponding author. E-mail: manolio{at} (T.A.M.); geoffrey.ginsburg{at} (G.S.G.)

      Published 3 June 2015, Sci. Transl. Med. 7, 290ps13 (2015)
      DOI: 10.1126/scitranslmed.aab0194

      This PDF file includes:

      • Table S1. Genomics programs worldwide: URLs
      • Table S2. Specialized genomic medicine–implementation projects in participating countries and regions

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