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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.

SUBMITTER: Orlando LA

PROVIDER: S-EPMC7648301 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

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

Orlando Lori A LA Wu R Ryanne RR Myers Rachel A RA Neuner Joan J McCarty Catherine C Haller Irina V IV Harry Melissa M Fulda Kimberly G KG Dimmock David D Rakhra-Burris Teji T Buchanan Adam A Ginsburg Geoffrey S GS

BMC health services research 20201107 1

<h4>Background</h4>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 ...[more]

PMID: 33160339

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Project description:BackgroundFamily history has traditionally been an essential part of clinical care to assess health risks. However, declining sequencing costs have precipitated a shift towards genomics-first approaches in population screening programs rendering the value of family history unknown. We evaluated the utility of incorporating family history information for genomic sequencing selection.MethodsTo ascertain the relationship between family histories on such population-level initiatives, we analysed whole genome sequences of 1750 research participants with no known pre-existing conditions, of which half received comprehensive family history assessment of up to four generations, focusing on 95 cancer genes.ResultsAmongst the 1750 participants, 866 (49.5%) had high-quality standardised family history available. Within this group, 73 (8.4%) participants had an increased family history risk of cancer (increased FH risk cohort) and 1 in 7 participants (n = 10/73) carried a clinically actionable variant inferring a sixfold increase compared with 1 in 47 participants (n = 17/793) assessed at average family history cancer risk (average FH risk cohort) (p = 0.00001) and a sevenfold increase compared to 1 in 52 participants (n = 17/884) where family history was not available (FH not available cohort) (p = 0.00001). The enrichment was further pronounced (up to 18-fold) when assessing only the 25 cancer genes in the American College of Medical Genetics (ACMG) Secondary Findings (SF) genes. Furthermore, 63 (7.3%) participants had an increased family history cancer risk in the absence of an apparent clinically actionable variant.ConclusionsThese findings demonstrate that the collection and analysis of comprehensive family history and genomic data are complementary and in combination can prioritise individuals for genomic analysis. Thus, family history remains a critical component of health risk assessment, providing important actionable data when implementing genomics screening programs.Trial registrationClinicalTrials.gov NCT02791152 . Retrospectively registered on May 31, 2016.

Project description:BackgroundThe presence of hereditary cancer syndromes in cancer patients can have an impact on current clinical care and post-treatment prevention and surveillance measures. Several barriers inhibit identification of hereditary cancer syndromes in routine practice. This paper describes the impact of using a patient-facing family health history risk assessment platform on the identification and referral of breast cancer patients to genetic counselling services.MethodsThis was a hybrid implementation-effectiveness study completed in breast cancer clinics. English-literate patients not previously referred for genetic counselling and/or gone through genetic testing were offered enrollment. Consented participants were provided educational materials on family health history collection, entered their family health history into the platform and completed a satisfaction survey. Upon completion, participants and their clinicians were given personalized risk reports. Chart abstraction was done to identify actions taken by patients, providers and genetic counsellors.ResultsOf 195 patients approached, 102 consented and completed the study (mean age 55.7, 100 % women). Sixty-six (65 %) met guideline criteria for genetic counseling of which 24 (36 %) were referred for genetic counseling. Of those referred, 13 (54 %) participants attended and eight (33 %) completed genetic testing. On multivariate logistic regression, referral was not associated with age, cancer stage, or race but was associated with clinical provider (p = 0.041). Most providers (71 %) had higher referral rates during the study compared to prior. The majority of participants found the experience useful (84 %), were more aware of their health risks (83 %), and were likely to recommend using a patient-facing platform to others (69 %).Conclusions65 % of patients attending breast cancer clinics in this study are at-risk for hereditary conditions based on current guidelines. Using a patient-facing risk assessment platform enhances the ability to identify these patients systematically and with widespread acceptability and recognized value by patients. As only a third of at-risk participants received referrals for genetic counseling, further understanding barriers to referral is needed to optimize hereditary risk assessment in oncology practices.Trial registrationNIH Clinical Trials registry, NCT04639934 . Registered Nov 23, 2020 -- Retrospectively registered.

Project description:BackgroundThe CDC's Family History Public Health Initiative encourages adoption and increase awareness of family health history. To meet these goals and develop a personalized medicine implementation science research agenda, the Genomedical Connection is using an implementation research (T3 research) framework to develop and integrate a self-administered computerized family history system with built-in decision support into 2 primary care clinics in North Carolina.Methods/designThe family health history system collects a three generation family history on 48 conditions and provides decision support (pedigree and tabular family history, provider recommendation report and patient summary report) for 4 pilot conditions: breast cancer, ovarian cancer, colon cancer, and thrombosis. All adult English-speaking, non-adopted, patients scheduled for well-visits are invited to complete the family health system prior to their appointment. Decision support documents are entered into the medical record and available to provider's prior to the appointment. In order to optimize integration, components were piloted by stakeholders prior to and during implementation. Primary outcomes are change in appropriate testing for hereditary thrombophilia and screening for breast cancer, colon cancer, and ovarian cancer one year after study enrollment. Secondary outcomes include implementation measures related to the benefits and burdens of the family health system and its impact on clinic workflow, patients' risk perception, and intention to change health related behaviors. Outcomes are assessed through chart review, patient surveys at baseline and follow-up, and provider surveys. Clinical validity of the decision support is calculated by comparing its recommendations to those made by a genetic counselor reviewing the same pedigree; and clinical utility is demonstrated through reclassification rates and changes in appropriate screening (the primary outcome).DiscussionThis study integrates a computerized family health history system within the context of a routine well-visit appointment to overcome many of the existing barriers to collection and use of family history information by primary care providers. Results of the implementation process, its acceptability to patients and providers, modifications necessary to optimize the system, and impact on clinical care can serve to guide future implementation projects for both family history and other tools of personalized medicine, such as health risk assessments.

Project description:BackgroundSystematically 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.MethodsHybrid 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.Setting19 primary care clinics at four geographically and culturally diverse U.S. healthcare systems.Participantsany English or Spanish-speaking adult with an upcoming appointment at an enrolling clinic.MethodsA 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.Outcomesprovider and patient discussion and provider uptake (i.e. ordering) and patient uptake (i.e. recommendation completion) of CDS recommendations.Measurespatient and provider surveys and EMR data.ResultsOne 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%).ConclusionsSystematic 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 registrationClinicaltrials.gov number NCT01956773 , registered 10/8/2013.

Project description:BackgroundHumanwide was precision health embedded in primary care aiming to leverage high-tech and high-touch medicine to promote wellness, predict and prevent illness, and tailor treatment to individual medical and psychosocial needs.MethodsWe conducted a study assessing implementation outcomes to inform spread and scale, using mixed methods of semi-structured interviews with diverse stakeholders and chart reviews. Humanwide included: 1) health coaching; 2) four digital health tools for blood-pressure, weight, glucose, and activity; 3) pharmacogenomic testing; and 4) genetic screening/testing. We examined implementation science constructs: reach/penetration, acceptability, feasibility, and sustainability. Chart reviews captured preliminary clinical outcomes.ResultsFifty of 69 patients (72%) invited by primary care providers participated in the Humanwide pilot. We performed chart reviews for the 50 participating patients. Participants were diverse overall (50% non-white, 66% female). Over half of the participants were obese and 58% had one or more major cardiovascular risk factor: dyslipidemia, hypertension, diabetes. Reach/penetration of Humanwide components varied: pharmacogenomics testing 94%, health coaching 80%, genetic testing 72%, and digital health 64%. Interview participants (n=27) included patients (n=16), providers (n=9), and the 2 staff who were allocated dedicated time for Humanwide patient intake and orientation. Patients and providers reported Humanwide was acceptable; it engaged patients holistically, supported faster medication titration, and strengthened patient-provider relationships. All patients benefited clinically from at least one Humanwide component. Feasibility challenges included: low provider self-efficacy for interpreting genetics and pharmacogenomics; difficulties with data integration; patient technology challenges; and additional staffing needs. Patient financial burden concerns surfaced with respect to sustainability.ConclusionThis is the first report of implementation of a multi-component precision health model embedded in team-based primary care. We found acceptance from both patients and providers; however, feasibility barriers must be overcome to enable broad spread and sustainability. We found that barriers to implementation of precision health in a team-based primary care clinic are mundane and straightforward, though not necessarily easy to overcome. Future implementation endeavors should invest in basics: education, workflow, and reflection/evaluation. Strengthening fundamentals will enable healthcare systems to more nimbly accept the responsibility of meeting patients at the crossroads of innovative science and routinized clinical systems.

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

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

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