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

• Published in: BMC health services research 2020-11, Vol.20 (1), p.1015-1015, Article 1015
• Main Authors: Orlando, Lori A, Wu, R Ryanne, Myers, Rachel A, Neuner, Joan, McCarty, Catherine, Haller, Irina V, Harry, Melissa, Fulda, Kimberly G, Dimmock, David, Rakhra-Burris, Teji, Buchanan, Adam, Ginsburg, Geoffrey S
• Format: Article
• Language: English
• Subjects: Adult; Age; Aged; Ambulatory Care Facilities; Atherosclerosis; Breast cancer; Cardiovascular disease; Chronic Disease; Chronic illnesses; Clinical decision making; Disease prevention; Effectiveness studies; Families & family life; Family health history; Family medical history; Female; Genetic risk; Genomics; Health risk assessment; Health services; Health Surveys; Humans; Male; Medical History Taking; Medical screening; Methods; Middle Aged; Mutation; Patients; Personal information; Population; Population Health; Precision Medicine; Primary care; Primary Health Care; Program Evaluation; Risk assessment; Risk Assessment - methods; Risk Management; Standard deviation; Surveillance; United States
• ISSN: 1472-6963; 1472-6963
• DOI: 10.1186/s12913-020-05868-1

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. 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. 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. 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. Clinicaltrials.gov number NCT01956773 , registered 10/8/2013.