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

BMC Health Services Research

Lori A. Orlando¹  Teji Rakhra-Burris¹  Rachel A. Myers¹  Geoffrey S. Ginsburg¹  R. Ryanne Wu²  Joan Neuner³  Irina V. Haller⁴  Melissa Harry⁴  Adam Buchanan⁵  David Dimmock⁶  Kimberly G. Fulda⁷  Catherine McCarty⁸ 

[1] Department of Medicine, Center for Applied Genomics and Precision Medicine, Duke University School of Medicine, Durham, USA;Department of Medicine, Center for Applied Genomics and Precision Medicine, Duke University School of Medicine, Durham, USA;Programme in Health Services and Systems Research, Duke-NUS Medical School, Singapore, Singapore;Department of Medicine, Medical College of Wisconsin, Milwaukee, USA;Center for Patient Care and Outcomes Research, Medical College of Wisconsin, Milwaukee, USA;Essentia Institute of Rural Health, Duluth, USA;Genomic Medicine Institute, Geisinger, Geisinger, USA;Rady Children’s Institute for Genomic Medicine, San Diego, USA;The North Texas Primary care Practice-Based Research Network and Family Medicine, University of North Texas Health Science Center, Fort Worth, USA;University of Minnesota Medical School, Duluth campus, Duluth, USA;

关键词: Risk assessment;    Family health history;    Genetic risk;    Population health;   

DOI  :  10.1186/s12913-020-05868-1

来源: Springer

【 摘 要 】

BackgroundRisk 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.MethodsWe 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.ResultsOne 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.ConclusionsA 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 registrationClinicaltrials.gov number NCT01956773, registered 10/8/2013.

【 授权许可】

CC BY