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Principal Investigator: PATRICK J O'CONNOR
Organization: HEALTHPARTNERS INSTITUTE
Fiscal Year: 2024
Award: $657,621
Funding agency: National Cancer Institute
PROJECT SUMMARY
Among the estimated one million Americans who have screened positive for specific genetic variants related to
Hereditary Breast and Ovarian Cancer Syndrome (HBOC) or Lynch Syndrome (LS), less than half are up to
date on evidence-based cancer prevention measures that may increase early detection of syndrome-related
cancers or prevent these cancers altogether. Most patients newly diagnosed with hereditary cancer syndromes
receive extensive initial care from genetic counselors or oncology teams but for many patients without a cancer
diagnosis at the time of syndrome identification, access to regular follow-up care from oncologists and genetic
counselors is limited. Pilot data show that the most frequent source of care for patients with HBOC or LS is the
primary care setting, but many primary care clinicians are unfamiliar with rapidly evolving cancer prevention
guidelines for patients with HBOC or LS. Although primary care clinicians are ideally positioned to make timely
referrals to subspecialists for indicated cancer prevention care and procedures, access to evidence-based
clinical decision support to optimize care for patients with these hereditary cancer syndromes does not exist.
We posit that using primary care clinical encounters to promote appropriate subspecialist referral and testing of
these high-risk patients will improve quality of care and clinical outcomes for patients with these hereditary
cancer syndromes. To achieve this goal, we expand an effective patient-centered primary care clinical decision
support (PC-CDS) system to guide evidence-based care of these high-risk patients, and assess intervention
impact on up-to-date cancer prevention care, shared decision making, and patient self-efficacy in managing
hereditary cancer risks. The web-based nature of the proposed PC-CDS system, its prior success in improving
primary care for a wide range of other chronic conditions, and its high use rates in primary care settings
suggest that this approach to care improvement may be an effective strategy to increase appropriate referrals
and evidence-based preventive care of adults with these hereditary cancer syndromes. To assess intervention
impact on care of adults with specific pathogenic or likely pathogenic gene variants related to HBOC or LS, we
randomly assign 30 primary care clinics with an estimated 2488 study-eligible patients with laboratory or
electronic health record (EHR)-documented HBOC or LS to usual care (N=15 clinics) or to the PC-CDS
intervention (N=15 clinics) and assess intervention impact on (i) up to date evidence-based cancer prevention
care, (ii) patient and clinician assessments of shared decision making related to cancer prevention care, and
(iii) patient self-efficacy in managing their hereditary cancer risks. The project delivers a scalable and adaptive
web-based CDS system that informs patients with specific genetic variants and their PCCs of evolving
standards of care, facilitates timely access to appropriate subspecialty care, and can be extended to guide
delivery of evidence-based care to those with other genetic variants likely to reach Centers for Disease Control
and Prevention (CDC) Office of Public Health Genomics (OPHG) Tier 1 status in coming years.
Terms: <21+ years old><Active Follow-up><Adult><Adult Human><American><Antigen Defined by Monoclonal Antibody AUAI><Attitude><BRCA1><BRCA1 Gene Product><BRCA1 Protein><BRCA1 gene><BRCA2><BRCA2 gene><Breast Cancer 1 Gene><Breast Cancer 1 Gene Product><Breast Cancer 2 Gene><Breast Cancer Type 1 Susceptibility Gene><Breast Cancer Type 1 Susceptibility Protein><Breast Cancer Type 2 Susceptibility Gene><Breast-Ovarian Cancer Protein><COCA1><Cancers><Caring><Centers for Disease Control><Centers for Disease Control and Prevention><Centers for Disease Control and Prevention (U.S.)><Chronic><Clinic><Clinical><Clinical Decision Support Systems><Cluster randomization trial><Cluster randomized trial><Communication><Consent><DNA Mismatch Repair Gene Homologue><DNA Mismatch Repair Protein MSH6><Data><Early Diagnosis><Early Onset Gene Breast Cancer 1><Early Onset Gene Breast Cancer 2><Early Onset Protein Breast Cancer 1><Electronic Health Record><Eligibility><Eligibility Determination><EpCAM><Epithelial Cellular Adhesion Molecule><Ethnic Origin><Ethnicity><FANCD1><FCC1><Familial Breast and Ovarian Cancer Syndrome><Familial Nonpolyposis Colon Cancer><Familiar Malignant Neoplasm><Familiar Neoplastic Syndrome><G-T mismatch-binding protein><GA733-2><GTMBP><Gastrointestinal Tumor-Associated Antigen 2, 35-KD Glycoprotein><Gene variant><Genomics><Goals><Guidelines><HNPCC><HNPCC4><H_DJ0042M02.9><Hereditary Breast Cancer 1><Hereditary Breast Cancer 2><Hereditary Breast and Ovarian Cancer><Hereditary Breast and Ovarian Cancer Syndrome><Hereditary Cancer><Hereditary Cancer Syndromes><Hereditary Colo-rectal Endometrial Cancer Syndrome><Hereditary Colorectal Endometrial Cancer Syndrome><Hereditary Defective Mismatch Repair Syndrome><Hereditary Malignant Neoplasm><Hereditary Neoplastic Syndromes><Hereditary Non-Polyposis Colon Cancer><Hereditary Nonpolyposis Colo-rectal Cancer><Hereditary Nonpolyposis Colo-rectal Neoplasms><Hereditary Nonpolyposis Colon Cancer><Hereditary Nonpolyposis Colorectal Cancer><Hereditary Nonpolyposis Colorectal Neoplasms><Heterogeneity><Individual><Intervention><Intervention Strategies><Knowledge><LS/HNPCC><Laboratories><Lynch Syndrome><M4S1><MIC18><MSH2><MSH2 gene><MSH6><MSH6 gene><Malignant Neoplasms><Malignant Tumor><Measures><Membrane Component, Chromosome 4, Surface Marker 1><MutS Homolog 6><NCCN><National Comprehensive Cancer Network><Nature><Newly Diagnosed><On-Line Systems><Oncologist><Oncology><Oncology Cancer><Online Systems><Other Genetics><Outcome><PMS2><PMS2 gene><PMSL2><Pathogenicity><Patient Care><Patient Care Delivery><Patient outcome><Patient-Centered Outcomes><Patient-Focused Outcomes><Patients><Position><Positioning Attribute><Preventative care><Prevention Guidelines><Prevention Measures><Preventive care><Primary Care><Procedures><Protocol Screening><Public Health><QOC><Quality of Care><Questionnaires><RNF53><Race><Races><Randomization trial><Randomized><Recommendation><Reporting><Self Efficacy><Source><Survey Instrument><Surveys><Syndrome><System><TACSTD1><TACSTD1 gene><Testing><Time><Tumor-Associated Calcium Signal Transducer 1><United States Centers for Disease Control><United States Centers for Disease Control and Prevention><Variant><Variation><Visit><active followup><adulthood><allele variant><allelic variant><brca 1 gene><brca 2 gene><cancer diagnosis><cancer genetics><cancer prevention><cancer risk><care as usual><care for patients><care of patients><caring for patients><clinical decision support><clinical encounter><early detection><electronic health care record><electronic health medical record><electronic health plan record><electronic health registry><electronic medical health record><evidence base><familial cancer><follow up><follow-up><followed up><followup><gene testing><gene-based testing><genetic counselor><genetic testing><genetic variant><genomic variant><hereditary non-polyposis colo-rectal cancer><hereditary non-polyposis colorectal cancer><high risk><improved><indexing><intervention effect><interventional strategy><malignancy><neoplasm/cancer><online computer><pathogenicity gene><patient centered><patient oriented><patient oriented outcomes><prevent><preventing><primary care clinic><primary care clinician><primary care setting><racial><racial background><racial origin><randomisation><randomization><randomized trial><randomly assigned><secondary analysis><sex><shared decision making><success><treatment as usual><usual care><virulence gene><virulent gene><web based>