Implementation-effectiveness trial of systematic family health history based risk assessment and impact on clinical disease prevention and surveillance activities

Abstract

Background Systematically assessing disease risk can improve population health by identifying those eligible for enhanced prevention/screening strategies. This study aims to determine the clinical impact of a systematic risk assessment in diverse primary care populations. Methods Hybrid implementation-effectiveness trial of a family health history-based health risk assessment (HRA) tied to risk-based guideline recommendations enrolling from 2014–2017 with 12 months of post-intervention survey data and 24 months of electronic medical record (EMR) data capture. Setting:19 primary care clinics at four geographically and culturally diverse U.S. healthcare systems. Participants: any English or Spanish-speaking adult with an upcoming appointment at an enrolling clinic. Methods: A personal and family health history based HRA with integrated guideline-based clinical decision support (CDS) was completed by each participant prior to their appointment. Risk reports were provided to patients and providers to discuss at their clinical encounter. Outcomes: provider and patient discussion and provider uptake (i.e. ordering) and patient uptake (i.e. recommendation completion) of CDS recommendations. Measures: patient and provider surveys and EMR data. Results One thousand eight hundred twenty nine participants (mean age 56.2 [SD13.9], 69.6% female) completed the HRA and had EMR data available for analysis. 762 (41.6%) received a recommendation (29.7% for genetic counseling (GC); 15.2% for enhanced breast/colon cancer screening). Those with recommendations frequently discussed disease risk with their provider (8.7%-38.2% varied by recommendation, p-values ≤ 0.004). In the GC subgroup, provider discussions increased referrals to counseling (44.4% with vs. 5.9% without, P < 0.001). Recommendation uptake was highest for colon cancer screening (provider = 67.9%; patient = 86.8%) and lowest for breast cancer chemoprevention (0%). Conclusions Systematic health risk assessment revealed that almost half the population were at increased disease risk based on guidelines. Risk identification resulted in shared discussions between participants and providers but variable clinical action uptake depending upon the recommendation. Understanding the barriers and facilitators to uptake by both patients and providers will be essential for optimizing HRA tools and achieving their promise of improving population health. Trial registration Clinicaltrials.gov number NCT01956773, registered 10/8/2013.

Advances in Clinical Decision Support Systems: Contributions from the 2022 Literature

“…Most studies were single-site, retrospective in nature, and focused on provider-facing CDS. Two out of the 11 best paper candidates [7,12] had a patient-facing application. Lobach et al explored the integration of a patient engagement application (for monitoring and managing COVID-19 symptoms) into the electronic health record using Health Level 7 (HL7) Fast Health Interoperability Resources (FHIR) standards, including contemporary services such as CDS Hooks [12].…”

“…Lobach et al explored the integration of a patient engagement application (for monitoring and managing COVID-19 symptoms) into the electronic health record using Health Level 7 (HL7) Fast Health Interoperability Resources (FHIR) standards, including contemporary services such as CDS Hooks [12]. Wu et al conducted an implementation effectiveness trial for examining the clinical impact of patient-oriented and provider-facing CDS report for health risk assessment [7]. Notably, one study demonstrated the scalability and transferability of a CDS system to reduce anesthetic gas waste [8], innovatively linking informatics solutions to environmental impact.…”

“…Structural aspects include the type of CDS and clinical setting where the CDS was deployed or studied. Six studies included domain-specific systems such as an electronic alert to notify prescribers about inappropriate red blood cell and platelet transfusion [6]; a patient-specific CDS report for disease prevention and surveillance in the primary care setting [7]; a non-interruptive alert in anesthesia to reduce fresh gas flow when a predefined threshold was exceeded [8]; a real-time text message alert when antimicrobial therapy was inappropriate (i.e., an antimicrobial agent-pathogen mismatch with a positive blood culture result) [9]; a guideline-based CDS for maternal health [10]; and a microRNA-based thyroid molecular…”

Genetically Guided Precision Medicine Clinical Decision Support Tools: A Systematic Review

“…Of the 41 articles summarized in Table 1, genetically guided cancer management was the focus of 13 articles. These included four manuscripts related to the MeTree system [38][39][40][41], a family health history FHx-based risk assessment which provides FHx-driven CDS for several conditions including cancer [42], six manuscripts on other FHx-driven CDS tools for cancer management [43][44][45][46][47][48], and single manuscripts on the following subjects: population health EHR FHx-driven CDS [49] and genetically matching clinical trial patients [50].…”

Validation of a guidelines-based digital tool to assess the need for germline cancer genetic testing

“…A variety of such solutions have arisen in recent years. [27][28][29][30][31] This includes automated algorithms that leverage family history information already captured in the EHR 31 as well as patient-facing digital tools that perform hereditary cancer risk assessment based on patient-entered personal and family history. 27,28,30 Studies have found that such digital tools effectively identify at-risk patients who would have been overlooked.…”