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.