The enduring importance of family health history in the era of genomic medicine and risk assessment

Improving disease risk prediction and tailoring preventive interventions to patient risk factors is one of the primary goals of precision medicine. Family health history is the traditional approach to quickly gather genetic and environmental data relevant to the patient. While the utility of family health history is well-documented, its utilization is variable, in part due to lack of patient and provider knowledge and incomplete or inaccurate data. With the advances and reduced costs of sequencing technologies, comprehensive sequencing tests can be performed as a risk assessment tool. We provide an overview of each of these risk assessment approaches, the benefits and limitations and implementation challenges.

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

Journal of Personalized Medicine ◽

10.3390/jpm11101046 ◽

2021 ◽

Vol 11 (10) ◽

pp. 1046

Author(s):

Sungwon Yoon ◽

Hendra Goh ◽

Si Ming Fung ◽

Shihui Tang ◽

David Matchar ◽

...

Keyword(s):

Breast Cancer ◽

Risk Assessment ◽

Cancer Patients ◽

Assessment Tool ◽

Family Health ◽

Personal Control ◽

Family Health History ◽

Risk Assessment Tool ◽

Breast Cancer Patients ◽

Health History

A family health history-based risk assessment is particularly valuable for guiding cancer screening and treatment strategies, yet an optimal implementation depends upon end-users’ values and needs. This is not only true prior to disease development, but also for those already affected. The aim of this study is to explore perceptions of the value of knowing one’s family health history (FHH)-based risk, experience using a patient-facing FHH tool and the potential of the tool for wider implementation. Twenty multi-ethnic Asian patients undergoing breast cancer treatment in Singapore completed an FHH-based risk assessment. Semi-structured one-on-one interviews were conducted and data were thematically analyzed. All participants were female and slightly more than half were Chinese. The acceptance and usage of an FHH risk assessment tool for cancers and its broader implementation was affected by a perceived importance of personal control over early detection, patient concerns of anxiety for themselves and their families due to risk results, concerns for genetic discrimination, adequacy of follow-up care plans and Asian cultural beliefs toward disease and dying. This study uniquely sheds light on the factors affecting Asian breast cancer patients’ perceptions about undergoing an FHH-based risk assessment, which should inform steps for a broader implementation in Asian healthcare 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

BMC Health Services Research ◽

10.1186/s12913-020-05868-1 ◽

2020 ◽

Vol 20 (1) ◽

Author(s):

Lori A. Orlando ◽

R. Ryanne Wu ◽

Rachel A. Myers ◽

Joan Neuner ◽

Catherine McCarty ◽

...

Keyword(s):

Risk Assessment ◽

Primary Care ◽

Precision Medicine ◽

Disease Risk ◽

Systematic Risk ◽

Family Health ◽

Family Health History ◽

Implementation Effectiveness ◽

Primary Care Population ◽

Health History

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.

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Exploring the Role of Community Health Workers in Improving the Collection of Family Health History: A Pilot Study

Health Promotion Practice ◽

10.1177/15248399211019980 ◽

2021 ◽

pp. 152483992110199

Author(s):

Caitlin G. Allen ◽

Brittaney J. Bethea ◽

Lawrence P. McKinney ◽

Cam Escoffery ◽

Tabia Henry Akintobi ◽

...

Keyword(s):

Community Health ◽

Community Health Workers ◽

Health Workers ◽

Disease Risk ◽

Family Health ◽

Family Health History ◽

Active Involvement ◽

Health History ◽

Key Factor ◽

Screening And Prevention

Community health workers (CHWs) have been successful partners in addressing public health and health care challenges but have yet to be engaged in efforts to promote family health history (FHH) collection. FHH information is a key factor in determining disease risk and supporting screening and prevention across multiple diseases. The collection of FHH information could be facilitated by the existing cadre of CHWs already working alongside clients and families. In this qualitative study, we interviewed 30 CHWs from Georgia to better understand the current level of knowledge about FHH, perceptions of how FHH collection aligns with their role, and barriers and facilitators in order to support more active involvement of CHWs in FHH collection. Interviews were completed, transcribed, and double coded by three study team members. More than half of CHWs reported knowing their own FHH information. CHWs showed a strong interest and support for collecting FHH in their job, despite limited current engagement in this role. CHWs acknowledged the collection of FHH as being an opportunity to empower clients to have conversations with their providers. To better support this work, CHWs requested training in using and integrating FHH tools into their workflow and support in communicating about FHH with their clients. Our findings suggest that with support and training, CHWs are uniquely positioned to improve FHH collection among their client base. Ultimately, improving FHH collection skills among the population could allow for better integration of risk-stratified approaches that are informed by FHH information for the prevention, management, and treatment of disease.

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Developing Shared Appraisals of Diabetes Risk Through Family Health History Feedback: The Case of Mexican-Heritage Families

Annals of Behavioral Medicine ◽

10.1093/abm/kax037 ◽

2018 ◽

Vol 52 (3) ◽

pp. 262-271 ◽

Cited By ~ 3

Author(s):

Jielu Lin ◽

Christopher S Marcum ◽

Anna V Wilkinson ◽

Laura M Koehly

Keyword(s):

Type 2 Diabetes ◽

Risk Assessment ◽

Risk Communication ◽

Adult Child ◽

Family Health ◽

Family Health History ◽

Health History ◽

Mexican Heritage ◽

Interpersonal Ties

Abstract Background Collecting complete and accurate family health history is critical to preventing type 2 diabetes. Purpose We seek to identify the optimal risk feedback approach that facilitates risk communication between parents and their adult children and helps them develop shared appraisals of family history of type 2 diabetes. Methods In a sample of parent-adult child dyads from 125 Mexican-heritage families residing in Houston, Texas, we examine change in parent-child dyadic (dis)agreement with respect to their shared family health history from baseline to 10 months after receipt of risk feedback generated by Family Healthware. A 2 × 2 factorial design is applied to test how the recipient (one parent or all family members) and the content (risk assessment with or without behavioral recommendations) of the feedback affect (dis)agreement through interpersonal ties, particularly dyadic risk communication. Results Providing risk assessment without behavioral recommendations to the parent, but not the adult child, shifts the dyads toward agreement (relative risk ratio [RRR]= 1.78, 95% confidence interval [CI] [1.18–2.67]), by activating reciprocal risk communication between parents and children (RRR =2.70, 95% CI [1.81–4.03]). Dyads with close interpersonal ties are more likely to shift toward agreement (RRR = 3.09, 95% CI [1.89–5.07]). Conclusion Programs aimed at improving family health history knowledge and accuracy of reports should tailor risk feedback strategically for better intervention effect and leverage a network approach in disease prevention among at-risk minority and/or immigrant populations. Trial Registration Number NCT00469339.

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

Hereditary Cancer in Clinical Practice ◽

10.1186/s13053-021-00177-y ◽

2021 ◽

Vol 19 (1) ◽

Author(s):

Si Ming Fung ◽

R. Ryanne Wu ◽

Rachel A. Myers ◽

Jasper Goh ◽

Geoffrey S. Ginsburg ◽

...

Keyword(s):

Breast Cancer ◽

Risk Assessment ◽

Genetic Counseling ◽

Genetic Testing ◽

Cancer Patients ◽

Family Health ◽

Family Health History ◽

Hereditary Cancer Syndromes ◽

Health History ◽

Cancer Syndromes

Abstract Background The 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. Methods This 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. Results Of 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 %). Conclusions 65 % 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 Registration NIH Clinical Trials registry, NCT04639934. Registered Nov 23, 2020 -- Retrospectively registered.

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Family health history: an essential starting point for personalized risk assessment and disease prevention

Personalized Medicine ◽

10.2217/pme-2016-0007 ◽

2016 ◽

Vol 13 (5) ◽

pp. 499-510

Author(s):

Vincent C Henrich ◽

Lori A Orlando

Keyword(s):

Risk Assessment ◽

Disease Prevention ◽

Family Health ◽

Family Health History ◽

Health History ◽

Starting Point ◽

Personalized Risk Assessment ◽

Personalized Risk

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Adaptation and early implementation of the PREdiction model for gene mutations (PREMM5™) for lynch syndrome risk assessment in a diverse population

Familial Cancer ◽

10.1007/s10689-021-00243-3 ◽

2021 ◽

Author(s):

Kathleen F. Mittendorf ◽

Chinedu Ukaegbu ◽

Marian J. Gilmore ◽

Nangel M. Lindberg ◽

Tia L. Kauffman ◽

...

Keyword(s):

Risk Assessment ◽

Lynch Syndrome ◽

Prediction Model ◽

Underserved Populations ◽

Gene Mutations ◽

Family Health ◽

Family Health History ◽

Assessment Model ◽

Health History ◽

Clinically Significant

AbstractLynch syndrome (LS) is the most common inherited cause of colorectal and endometrial cancers. Identifying individuals at risk for LS without personal cancer history requires detailed collection and assessment of family health history. However, barriers exist to family health history collection, especially in historically underserved populations. To improve LS risk assessment in historically underserved populations, we adapted the provider-facing PREdiction Model for gene Mutations (PREMM5™ model), a validated LS risk assessment model, into a patient-facing electronic application through an iterative development process involving expert and patient stakeholders. We report on preliminary findings based on the first 500 individuals exposed to the adapted application in a primary care population enriched for low-literacy and low-resource patients. Major adaptations to the PREMM5™ provider module included reduction in reading level, addition of interactive literacy aids, incorporation of family history assessment for both maternal and paternal sides of the family, and inclusion of questions about individual relatives or small groups of relatives to reduce cognitive burden. In the first 500 individuals, 90% completed the PREMM5™ independently; of those, 94% did so in 5 min or less (ranged from 0.2 to 48.8 min). The patient-facing application was able to accurately classify 84% of patients as having clinically significant or not clinically significant LS risk. Our preliminary results suggest that in this diverse study population, most participants were able to rapidly, accurately, and independently complete an interactive application collecting family health history assessment that accurately assessed for Lynch syndrome risk.

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