At the intersection of precision medicine and population health: an implementation-effectiveness study of family health history based systematic risk assessment in primary care

Abstract

Background Risk assessment is a precision medicine technique that can be used to enhance population health when applied to prevention. Several barriers limit the uptake of risk assessment in health care systems; and little is known about the potential impact that adoption of systematic risk assessment for screening and prevention in the primary care population might have. Here we present results of a first of its kind multi-institutional study of a precision medicine tool for systematic risk assessment. Methods We undertook an implementation-effectiveness trial of systematic risk assessment of primary care patients in 19 primary care clinics at four geographically and culturally diverse healthcare systems. All adult English or Spanish speaking patients were invited to enter personal and family health history data into MeTree, a patient-facing family health history driven risk assessment program, for 27 medical conditions. Risk assessment recommendations followed evidence-based guidelines for identifying and managing those at increased disease risk. Results One thousand eight hundred eighty-nine participants completed MeTree, entering information on N = 25,967 individuals. Mean relatives entered = 13.7 (SD 7.9), range 7–74. N = 1443 (76.4%) participants received increased risk recommendations: 597 (31.6%) for monogenic hereditary conditions, 508 (26.9%) for familial-level risk, and 1056 (56.1%) for risk of a common chronic disease. There were 6617 recommendations given across the 1443 participants. In multivariate analysis, only the total number of relatives entered was significantly associated with receiving a recommendation. Conclusions A significant percentage of the general primary care population meet criteria for more intensive risk management. In particular 46% for monogenic hereditary and familial level disease risk. Adopting strategies to facilitate systematic risk assessment in primary care could have a significant impact on populations within the U.S. and even beyond. Trial registration Clinicaltrials.gov number NCT01956773, registered 10/8/2013.

Clinical implementation of an oncology‐specific family health history risk assessment tool

“…These findings are similar to what has been observed when implementing standardized risk assessment within the primary care environment. In those studies, a significant proportion of the population was found to be at risk for hereditary cancer syndromes [27,30,34,40] (though lower than in a population pre-selected for having breast cancer as in this study) but as in this study, while there is some uptake of risk recommendations, there remain challenges to be addressed to improve clinical impact [32,41].…”

“…MeTree, a web-based patient-facing FHH collection software with integrated clinical decision support (CDS), is one such platform [31]. MeTree has been extensively studied in primary care where it has been shown to increase risk identification and impact clinical care [32][33][34]. We sought to evaluate how MeTree might be used to meet the needs of an oncology setting.…”

Experience and Perceptions of a Family Health History Risk Assessment Tool among Multi-Ethnic Asian Breast Cancer Patients

“…With the potential health impact of a systematic risk assessment becoming increasingly evident, the need for access to such services is more apparent than ever [11,27,53]. However, access alone is insufficient to ensure an optimal patient uptake.…”

“…MeTree has been evaluated in numerous healthcare systems in the United States and in Singapore [23][24][25]. It has been widely accepted in primary care populations and significantly increases the identification of individuals at risk for hereditary conditions [24,26,27].…”

Current state and future directions of genomic medicine in aortic dissection: A path to prevention and personalized care

“…To be an effective risk assessment tool, family history must be accurately collected and interpreted by clinicians, and clinical recommendations should be discussed with patients. Common barriers to obtaining family history from the clinician’s perspective include time required to obtain history (15–30 minutes), lack of reimbursement for time, and providers’ perceived limitations to counsel on heritable findings [ 23 ] (see Supplementary Table 1 for additional references). Patient-facing web tools for family history collection have demonstrated superior data quality and completeness compared with traditional in-person collection, and improved the accuracy of risk stratification for other diseases [ 24 ].…”