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

doi:10.1370/afm.1772

Article Figures & Data

Figures

Tables
Additional Files

Download figure
Open in new tab
Download powerpoint
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).

View popup

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 care^6,7

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.
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.
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.
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.

View popup

Table 2

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

Challenge	Potential Solutions
Limited evidence and conflicting interpretation of benefit/value	Generate 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 acceptance	Carry 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 testing	Use 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 applications	Develop 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 CDS	Enable 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 genotyping	Shift 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 members	Clarify implications for family members and clinicians’ responsibilities toward family members Explore ways to improve information to at-risk families
Consent	Ensure 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, public	Conduct 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 resources	Combine 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 reimbursement	Until 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.

Additional Files

Figures
Tables

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.