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DiscussionReflections

Making Personalized Health Care Even More Personalized: Insights From Activities of the IOM Genomics Roundtable

Sean P. David, Samuel G. Johnson, Adam C. Berger, W. Gregory Feero, Sharon F. Terry, Larry A. Green, Robert L. Phillips and Geoffrey S. Ginsburg
The Annals of Family Medicine July 2015, 13 (4) 373-380; DOI: https://doi.org/10.1370/afm.1772
Sean P. David
1Department of Medicine, Stanford University School of Medicine, Palo Alto, California
2Roundtable on Translating Genomic-Based Research for Health, Institute of Medicine (IOM) of the National Academies
MD, SM, DPhil
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  • For correspondence: spdavid@stanford.edu
Samuel G. Johnson
2Roundtable on Translating Genomic-Based Research for Health, Institute of Medicine (IOM) of the National Academies
3Applied Pharmacogenomics, Kaiser-Permanente Colorado, Aurora, Colorado
4Department of Clinical Pharmacy, University of Colorado, Denver, Colorado
PharmD
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Adam C. Berger
3Applied Pharmacogenomics, Kaiser-Permanente Colorado, Aurora, Colorado
PhD
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W. Gregory Feero
3Applied Pharmacogenomics, Kaiser-Permanente Colorado, Aurora, Colorado
5Maine-Dartmouth Family Medicine Residency Program, Augusta, Maine
MD, PhD
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Sharon F. Terry
2Roundtable on Translating Genomic-Based Research for Health, Institute of Medicine (IOM) of the National Academies
6Genetic Alliance, Washington, DC
MA
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Larry A. Green
7Department of Family Medicine, University of Colorado, Denver, Colorado
MD
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Robert L. Phillips Jr
8American Board of Family Medicine, Lexington, Kentucky
MD, MSPH
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Geoffrey S. Ginsburg
2Roundtable on Translating Genomic-Based Research for Health, Institute of Medicine (IOM) of the National Academies
9Center for Applied Genomics and Precision Medicine, Duke University School of Medicine, Durham, North Carolina
MD
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    Figure 1

    Schematic roadmap for clinical implementation of genomic medicine in primary care.

    Note: This roadmap depicts a planned process that begins and returns to gap analyses of the genomic medicine evidence base driven by clinical and public health priorities and the needs and values of health care professionals, patients, and multiple stakeholders. Generation of high-priority evidence with clinical utility is a prerequisite for clinical implementation (box 1). The systematic planning and evaluation of diffusion of genomic innovations can be accomplished using methods of clinical implementation science (box 2). Anticipating full clinical implementation enables planning and the development of systems to support continual quality improvement (box 3) and drive new knowledge acquisition to fill emerging evidence gaps and diffuse future innovations (return arrows).

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    Table 1

    The Definition and Key Features of Primary Care

    Institute of Medicine Definition
    “Primary care is the provision of integrated, accessible health care services by clinicians who are accountable for addressing a large majority of personal health care needs, developing a sustained partnership with patients, and practicing in the context of family and community.”
    4 Key features of primary care6,7
    1. It is person rather than disease focused. This focus entails sustained relationships between patients and providers in primary care practices over time, often referred to as continuity.

    2. It provides a point of first contact for whatever people might consider a health or health care problem. In properly organized health care systems, primary care ensures access to needed services.

    3. It is comprehensive. By definition, it can encompass any problem. Many problems in primary care are ambiguous and defy precise diagnosis. Nonetheless, primary care meets a great majority of patient needs without referral.

    4. It coordinates care. Primary care adopts mechanisms that facilitate the transfer of information about health needs and health care over time. Highly personalized solutions to patients’ problems can be implemented when sustained relationships permit deeper knowledge and understanding of individuals’ habits, preferences, and goals.

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    Table 2

    Challenges in Implementation of Genomic Medicine in Primary Care and Potential Solutions

    ChallengePotential Solutions
    Limited evidence and conflicting interpretation of benefit/valueGenerate evidence of clinical utility of genomic medicine interventions in PCMH settings
    Tailor needs for evidence against potential benefits and harms
    Convene expert panels to develop primary care guidelines based on best evidence
    Engage community-based practices to assist in developing evidence
    Determine process outcomes of incorporating genomic information into EHRs
    Publicize success widely
    Organize consortia to conduct practice-based research trials of genotype-derived therapy when appropriate
    Lack of institutional and clinician acceptanceCarry out RE-AIM framework evaluation at the level of the PCMH or PCMH network (Figure 1)
    Establish institutional advisory committee(s) involving senior leadership and partner with early adopter programs to evaluate evidence, recommend and monitor implementation—at health care centers, community or regional levels—consistent with principles of primary care (Table 1) and community values
    Engage early adopters and clinical champions in demonstration efforts
    Conduct pilot projects in early adopter PCMHs to develop results sufficient for follow-on funding
    Obtain transinstitutional commitment at highest levels involving all relevant departments and stakeholders
    Utilize internal pilot funding to catalyze initiation
    Build clinician acceptance of clinical genetics professionals by judiciously integrating genetic counselors and/or geneticists in nongenetics clinical services throughout primary institution/clinic and affiliated institutions
    Bring fragmented expertise for advancing genomic medicine under 1 transdisciplinary PCMH program or network
    Harness institutional (clinic or affiliated health care center) quality improvement processes to assess value
    Limited access to genomic medicine expertise and testingUse research-screening assays on site and confirm clinically actionable findings with rapid, cost-effective, CLIA-certified off-site testing if necessary
    Establish or expand institutional CLIA-compliant genotyping to expand point-of-care testing, same-day service
    Choose platform to assay multiple important genotypes simultaneously, reliably, and inexpensively
    Invest in new equipment and personnel to ensure research quality is at the same level as the clinical laboratory; this effort requires institutional investment
    Work with genetic counselors in PCMH teams to establish protocols for process and parameters of data return
    Lack of standards for genomic applicationsDevelop agreed-upon framework or standards for evaluation of genomic medicine applications
    Develop standardized order sets and process modification
    Develop standards for analytic validity of whole-genome and whole-exome sequencing sufficient for clinical interpretation of the variants found by these methods
    EHR integration of genomic results and CDSEnable access to actionable genomic information in the EHR through development of user-friendly decision-support algorithms for primary care clinicians
    Establish a “usability lab” to test genomic medicine applications in the EHR and assess CDS tools
    Allocate genomic medicine institutional funding to develop education and outreach to disseminate best practices incorporating family history and genomic information
    Redesign EHR to include section dedicated to containing all relevant genotype results for each patient
    Develop and link actionable drug-gene pair decision to electronic pharmaceutical ordering software at point-of-care adoption of pharmacogenomic testing
    Establish interdisciplinary workgroup with genomic medicine, chronic care, and EHR team to create secure tools for EHR-based genomic decision support
    Establish ordering protocols to prompt appropriate referrals to genetic counselors based upon type and indication of genomic testing ordered
    Follow-up of patients after genotypingShift from relying on primary care clinician direct contact to PCMH/genomic medicine teams with permission of clinician
    Analyze and address reasons for refusal to complete confirmatory testing, such as lack of coverage for testing
    Outreach to at-risk family membersClarify implications for family members and clinicians’ responsibilities toward family members
    Explore ways to improve information to at-risk families
    ConsentEnsure that informed consents for implementation projects conducted as research studies include returning results to patients and entering results into EHR
    Conformance with standard of care and specific consent may not be needed
    Consider implementation projects that might not require consent, such as results in established clinical pathways (tumor mutations and germline polymorphisms affecting treatment decisions) in partnership with medical subspecialists who have content-specific expertise
    Develop standards for informed consent for extensive genotyping or sequencing, including whole-genome sequencing, and obtain it prospectively and combine with protocols for testing indications
    Ensure that availability of personnel to manage consent/counseling is not rate limiting in initial implementation
    Understanding by patients, clinicians, publicConduct focus groups of patients, clinicians, and ancillary personnel to identify specific educational needs
    Conduct genetic and genomic medicine campaign for patients, clinicians, and ancillary personnel based on focus group input
    Survey retention of educational information by patients and clinicians and modify programs as needed
    Conduct genotyping and/or sequencing and interpretation exercises with medical and other health profession students
    Provide specific health care clinician education on when to order tests, and how to interpret results, and how to act on implications for family members and clinician’s responsibilities
    Introduce pharmacogenomic lectures into health professionals’ training and continuing education
    Provide clinical supervision to clinician trainees in use of pharmacogenomic testing, other genomic point-of-care testing
    Include American Board of Family Medicine (and other boards) maintenance of certification self-assessment modules in genomic medicine
    Development and dissemination of new educational objectives by the National Human Genome Research Institute Inter-Society Coordinating Committee for Practitioner Education in Genomics
    Lack of access to comparison “control” sequence data and banking resourcesCombine current PCMH’s small patient collections of reference sequences and make available to all centers
    Prioritize funding for costly and time-consuming storage of viable tissues/biospecimens for DNA analyses
    Biobank tissues/biospecimens for confirmatory clinical sequencing with patient identifiers
    High-level institutional or PCMH network commitment to combine and organize multiple biorepositories for efficiency and ease of access while protecting patient privacy
    Lack of research funding and reimbursementUntil evidence is established for making genomic testing a new standard of care, consider research funding for testing in interim between discovery and adoption into PCMHs
    Gradually change culture to convince health care community and patients of value of genomic medicine and need for reimbursement
    Demonstrate cost of testing is not prohibitive and savings impact can be substantial
    Provide institutional back-up for reimbursement to avoid charges to patients
    Anticipate rises in interpretive and delivery costs as technology cost drops and enthusiasm increases
    • CDS = clinical decision support; CLIA = Clinical Laboratory Improvement Amendments; EHR = electronic health record; PCMH = patient-centered medical home; RE-AIM = reach, effectiveness, adoption, implementation, and maintenance.

    • Note: Challenges to clinical implementation identified by a National Human Genome Research Institute Genomic Medicine Colloquium representing 20 health care organizations and working groups in June 2011.16 Table adapted to the goal of integration of genomic medicine clinical implementation with primary care redesign.

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  • The Article in Brief

    Making Personalized Health Care Even More Personalized: Insights From Activities of the IOM Genomics Roundtable

    Sean P. David , and colleagues

    Background Genomic medicine may provide the greatest impact when systematically integrated with primary care, where most health care occurs, and where its delivery can be truly personalized. This report synthesizes insights from the Institute of Medicine Roundtable on Genomic-Based Research for Health and proposes a model for implementing genomic medicine into the patient-centered medical home (PCMH).

    What This Study Found Implementation of clinical genomics into primary care and clinical practice has been limited because of critical evidence gaps, especially those related to clinical utility and applicability to diverse populations. A roadmap for integration could include three components: 1) evidence analysis and gap filling, 2) clinical implementation science, and 3) clinical implementation within a continuous improvement loop whereby clinical observations inform translational science and dissemination.

    Implications

    • To make personalized healthcare even more personal requires re-aiming translational pipelines towards more healing relationships in a continuously improving PCMH, which could enable realization of the primary care genomics partnership models envisaged by leaders in both fields.
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The Annals of Family Medicine: 13 (4)
The Annals of Family Medicine: 13 (4)
Vol. 13, Issue 4
July/August 2015
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Making Personalized Health Care Even More Personalized: Insights From Activities of the IOM Genomics Roundtable
Sean P. David, Samuel G. Johnson, Adam C. Berger, W. Gregory Feero, Sharon F. Terry, Larry A. Green, Robert L. Phillips, Geoffrey S. Ginsburg
The Annals of Family Medicine Jul 2015, 13 (4) 373-380; DOI: 10.1370/afm.1772

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Making Personalized Health Care Even More Personalized: Insights From Activities of the IOM Genomics Roundtable
Sean P. David, Samuel G. Johnson, Adam C. Berger, W. Gregory Feero, Sharon F. Terry, Larry A. Green, Robert L. Phillips, Geoffrey S. Ginsburg
The Annals of Family Medicine Jul 2015, 13 (4) 373-380; DOI: 10.1370/afm.1772
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