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Objective Study Setting and Design Data Sources and Analytic Sample Principal Findings Conclusions To ascertain how an instrumental variables (IV) model can improve upon the estimates obtained from traditional cost‐of‐illness (COI) models that treat health conditions as predetermined.A simulation study based on observational data compares the coefficients and average marginal effects from an IV model to a traditional COI model when an unobservable confounder is introduced. The two approaches are then applied to real data, using a kinship‐weighted family history as an instrument, and differences are interpreted within the context of the findings from the simulation study.The case study utilizes secondary data on type 2 diabetes mellitus (T2DM) status to examine healthcare costs attributable to the disease. The data come from Utah residents born between 1950 and 1970 with medical insurance coverage whose demographic information is contained in the Utah Population Database. Those data are linked to insurance claims from Utah's All‐Payer Claims Database for the analyses.The simulation confirms that estimated T2DM healthcare cost coefficients are biased when traditional COI models do not account for unobserved characteristics that influence both the risk of illness and healthcare costs. This bias can be corrected to a certain extent with instrumental variables. An IV model with a validated instrument estimates that 2014 costs for an individual age 45–64 with T2DM are 27% (95% CI: 2.9% to 51.9%) higher than those for an otherwise comparable individual who does not have T2DM.Researchers studying the COI for chronic diseases should assess the possibility that traditional estimates may be subject to bias because of unobserved characteristics. Doing so may be especially important for prevention and intervention studies that turn to COI studies to assess the cost savings associated with such initiatives. [ABSTRACT FROM AUTHOR]

Background: Family health history (FHH) is central to human genomic profiling construction; however, there is no protocol for documenting FHH in a pedigree format in Vietnam. Aim: A "Gia Su Suc Khoe" (GSSK) tool was developed to create a user-friendly interface for collecting FHH and offering diseases' risk assessment. Results: A tool was described (https://giasusuckhoe.vn/) with good feedback from genetic counselors and family-medicine doctors. Among 20 surveys, 100% of respondents noted that the report accurately reflected their FHH and were satisfied with the tool's display. About 74% of familial conditions were covered. Overall, all constructive feedback has been adapted into the updated version. Conclusion: Gia Su Suc Khoe has the potential to significantly improve healthcare delivery and outcomes in Vietnam. Article highlights Family health history (FHH) has been a primordial, non-expensive, and non-invasive risk stratification tool to inform prevention and screening strategies, especially for common genetic conditions. A new program developed in Vietnam namely Gia Su Suc Khoe (GSSK) not only utilizes a pedigree format to capture FHH but also performs risk assessments for various preventable and prevalent genetic disorders. GSSK is a self-administered, patient-centric and computerized program for obtaining Vietnamese FHH (https://giasusuckhoe.vn/), which receives positive feedback from genetic counselors and family-medicine doctors on its effectiveness, precision, and practical implications. GSSK becomes the pioneering program to help obtain FHH in Vietnam, which is believed to address several barriers, ensure high-quality information and leverage it for risk assessment. [ABSTRACT FROM AUTHOR]

Background: Physical activity is an essential aspect of living a healthy lifestyle, which offers a myriad of benefits for both the body and the mind. Nonetheless, a family history of obesity can pose significant challenges to achieving and maintaining a healthy weight, which is further exacerbated by the academic stress. Individuals who have a role model that prioritizes physical activity are more likely to develop positive and healthy habits in their lives. Objectives: The study aimed to examine how role models affect physical activity and its impact on addressing challenges of family obesity history and academic stress in school children. Methods: This cross-sectional study was conducted from October 2019 to April 2020 in three schools in Amritsar district selected by lottery method of simple random sampling. Out of 4226 students, 355 overweight and obese students were interviewed regarding their physical activity. An informed written assent and consent was taken from the children and guardians respectively. Mothers of 6 to 11-year-old students and students aged 12 to 16 were interviewed using a pre-designed, validated, semi-structured questionnaire. Results: 51.3% had a family history of obesity while 14.9% and 14.6% of parents of overweight students had hypertension and diabetes, respectively. Over half (52.7%) lacked interest in physical activity and almost 33.5% of males were inactive. Students who chose movie actors as role models (71.1%) and those who found their role models’ information reliable (83.2%) were more likely to participate in physical activity. Of the 247 students who were knowledgeable about healthy living, a significant majority of 70.4% engaged in physical activity while 76% of overweight/obese students reported academic stress as a barrier. Conclusions: Study shows majority engage in physical activity regardless of gender. Over 70% have family history of obesity and healthy lifestyle knowledge. Stress reduces physical activity and students with movie/sports/fitness role models have better activity levels. Reasons for not engaging included dislike for sports and lack of time.

ABSTRACT: Background: Physical activity is an essential aspect of living a healthy lifestyle, which offers a myriad of benefits for both the body and the mind. Nonetheless, a family history of obesity can pose significant challenges to achieving and maintaining a healthy weight, which is further exacerbated by the academic stress. Individuals who have a role model that prioritizes physical activity are more likely to develop positive and healthy habits in their lives. Objectives: The study aimed to examine how role models affect physical activity and its impact on addressing challenges of family obesity history and academic stress in school children. Methods: This cross-sectional study was conducted from October 2019 to April 2020 in three schools in Amritsar district selected by lottery method of simple random sampling. Out of 4226 students, 355 overweight and obese students were interviewed regarding their physical activity. An informed written assent and consent was taken from the children and guardians respectively. Mothers of 6 to 11-year-old students and students aged 12 to 16 were interviewed using a pre-designed, validated, semi-structured questionnaire. Results: 51.3% had a family history of obesity while 14.9% and 14.6% of parents of overweight students had hypertension and diabetes, respectively. Over half (52.7%) lacked interest in physical activity and almost 33.5% of males were inactive. Students who chose movie actors as role models (71.1%) and those who found their role models' information reliable (83.2%) were more likely to participate in physical activity. Of the 247 students who were knowledgeable about healthy living, a significant majority of 70.4% engaged in physical activity while 76% of overweight/obese students reported academic stress as a barrier. Conclusions: Study shows majority engage in physical activity regardless of gender. Over 70% have family history of obesity and healthy lifestyle knowledge. Stress reduces physical activity and students with movie/sports/fitness role models have better activity levels. Reasons for not engaging included dislike for sports and lack of time. [ABSTRACT FROM AUTHOR]

Simple Summary: A family history of lung cancer has been reported to increase the risk of lung cancer development. Since a family history of lung cancer is generally regarded as an unmodifiable factor, understanding the relationship between a family history of lung cancer and the development of lung cancer is essential for establishing lung cancer screening strategies. However, previous studies on this issue did not consider various characteristics of study participants, such as age, sex, and smoking status, and there is an ongoing debate regarding which subgroups exhibit a higher genetic predisposition to lung cancer. Furthermore, no data are available on the impact of a family history of lung cancer on lung cancer risk in the general Korean population. Therefore, we aimed to investigate the association between a family history of lung cancer in first-degree relatives and lung cancer development through a comprehensive analysis of a large population-based cohort in Korea. Comprehensive analyses of the association between a family history of lung cancer and lung cancer risk are limited, especially in the Korean population. We used baseline data from the Korean Genome and Epidemiology Study, conducted between 2001 and 2013. This study enrolled 198,980 individuals. Lung cancer diagnoses and family histories were determined using questionnaires. Multivariable logistic regression analysis was performed to evaluate the effect of family history on the risk of lung cancer. Of 198,980 individuals, 6296 (3.2%) and 140 (0.1%) had a family history of lung cancer and lung cancer, respectively. Individuals with a family history of lung cancer in first-degree relatives (FDRs) had a higher risk of lung cancer development than those without (adjusted odds ratio [aOR] = 2.28, 95% confidence interval [CI] = 1.11–4.66). This was more pronounced in young individuals (<60 years) who had affected relatives diagnosed with lung cancer before the age of 60 years (aOR = 3.77, 95% CI = 1.19–11.88). In subgroup analyses, this association was more evident in women, never smokers, and young individuals. A family history of lung cancer, especially in FDRs, is a significant risk factor for lung cancer development in Korea. [ABSTRACT FROM AUTHOR]

Family health history (FHH) is an evidence-based genomics tool used in cancer prevention and education. Chinese Americans, the largest Asian American group, face unique barriers in FHH collection and communication. This study aimed to evaluate the efficacy of culturally and linguistically appropriate community health worker (CHW)–delivered FHH-based breast cancer (BC) education and services to Chinese Americans. A total of 1129 Chinese Americans received FHH-based BC education and service delivered by our trained Chinese American CHWs. Participants responded to evaluation surveys before, immediately after, and 3 months after the education and service. Participating Chinese Americans showed significant increases in rates of collecting FHH of BC, discussing FHH of BC with family members, informing their primary care physicians of their FHH of BC, and discussing their FHH of BC with their primary care physicians at 3 months post-education and service compared to the baseline data (all Ps < 0.01). Attitudes, intention, and self-efficacy related to FHH of BC communication and collection and FHH of BC knowledge were improved both immediately after and 3 months after the delivery of the education and services (all Ps < 0.01). Within 3 months, ~ 14.3% of participants who had a high risk of BC based on FHH reported visiting geneticists for genetic evaluation. Our Chinese American CHW-delivered FHH-based BC education and services showed initial success in increasing knowledge, collection and communication of BC-related FHH, and genetic service utilization among Chinese American participants. This study can serve as a starting point for conducting more robust studies, such as randomized controlled trials, in the future. [ABSTRACT FROM AUTHOR]

Genetic testing is key in modern healthcare, particularly for monogenic disorders such as familial hypercholesterolemia. This Tohoku Medical Megabank Project study explored the impact of first-degree relatives' dyslipidemia history on individual responses to familial hypercholesterolemia genomic results. Involving 214 participants and using Japan's 3.5KJPN genome reference panel, the study assessed preferences and intentions regarding familial hypercholesterolemia genetic testing results. The data revealed a significant inclination among participants with a family history of dyslipidemia to share their genetic test results, with more than 80% of participants intending to share positive results with their partners and children and 98.1% acknowledging the usefulness of positive results for personal health management. The study underscores the importance of family health history in genetic-testing perceptions, highlighting the need for family-centered approaches in genetic counseling and healthcare. Notable study limitations include the regional scope and reliance on questionnaire data. The study results emphasize the association between family health history and genetic-testing attitudes and decisions. [ABSTRACT FROM AUTHOR]

Background: Family health history (FHx) is an important predictor of a person's genetic risk but is not collected by many adults in the United States. Objective: This study aims to test and compare the usability, engagement, and report usefulness of 2 web-based methods to collect FHx. Methods: This mixed methods study compared FHx data collection using a flow-based chatbot (KIT; the curious interactive test) and a form-based method. KIT's design was optimized to reduce user burden. We recruited and randomized individuals from 2 crowdsourced platforms to 1 of the 2 FHx methods. All participants were asked to complete a questionnaire to assess the method's usability, the usefulness of a report summarizing their experience, user-desired chatbot enhancements, and general user experience. Engagement was studied using log data collected by the methods. We used qualitative findings from analyzing free-text comments to supplement the primary quantitative results. Results: Participants randomized to KIT reported higher usability than those randomized to the form, with a mean System Usability Scale score of 80.2 versus 61.9 (P <.001), respectively. The engagement analysis reflected design differences in the onboarding process. KIT users spent less time entering FHx information and reported more conditions than form users (mean 5.90 vs 7.97 min; P =.04; and mean 7.8 vs 10.1 conditions; P =.04). Both KIT and form users somewhat agreed that the report was useful (Likert scale ratings of 4.08 and 4.29, respectively). Among desired enhancements, personalization was the highest-rated feature (188/205, 91.7% rated medium- to high-priority). Qualitative analyses revealed positive and negative characteristics of both KIT and the form-based method. Among respondents randomized to KIT, most indicated it was easy to use and navigate and that they could respond to and understand user prompts. Negative comments addressed KIT's personality, conversational pace, and ability to manage errors. For KIT and form respondents, qualitative results revealed common themes, including a desire for more information about conditions and a mutual appreciation for the multiple-choice button response format. Respondents also said they wanted to report health information beyond KIT's prompts (eg, personal health history) and for KIT to provide more personalized responses. Conclusions: We showed that KIT provided a usable way to collect FHx. We also identified design considerations to improve chatbot-based FHx data collection: First, the final report summarizing the FHx collection experience should be enhanced to provide more value for patients. Second, the onboarding chatbot prompt may impact data quality and should be carefully considered. Finally, we highlighted several areas that could be improved by moving from a flow-based chatbot to a large language model implementation strategy. [ABSTRACT FROM AUTHOR]

Background: Identifying children at high risk of developing asthma can facilitate prevention and early management strategies. We developed a prediction model of children's asthma risk using objectively collected population‐based children and parental histories of comorbidities. Method s : We conducted a retrospective population‐based cohort study using administrative data from Manitoba, Canada, and included children born from 1974 to 2000 with linkages to ≥1 parent. We identified asthma and prior comorbid condition diagnoses from hospital and outpatient records. We used two machine‐learning models: least absolute shrinkage and selection operator (LASSO) logistic regression (LR) and random forest (RF) to identify important predictors. The predictors in the base model included children's demographics, allergic conditions, respiratory infections, and parental asthma. Subsequent models included additional multiple comorbidities for children and parents. Results: The cohort included 195,666 children: 51.3% were males and 17.7% had asthma diagnosis. The base LR model achieved a low predictive performance with sensitivity of 0.47, 95% confidence interval (0.45–0.48), and specificity of 0.67 (0.66–0.67) using a predicted probability threshold of 0.20. Sensitivity significantly improved when children's comorbidities were included using LASSO LR: 0.71 (0.69–0.72). Predictive performance further improved by including parental comorbidities (sensitivity = 0.72 [0.70–0.73], specificity = 0.69 [0.69–0.70]). We observed similar results for the RF models. Children's menstrual disorders and mood and anxiety disorders, parental lipid metabolism disorders and asthma were among the most important variables that predicted asthma risk. Conclusion: Including children and parental comorbidities to children's asthma prediction models improves their accuracy. [ABSTRACT FROM AUTHOR]

Content This study examines the potential utility of genetic testing as a supplement to family health history to screen for increased risk of inherited disease. Medical conditions are often misreported or misunderstood, especially those related to different forms of cardiac disease (arrhythmias vs. structural heart disease vs. coronary artery disease), female organ cancers (uterine vs. ovarian vs. cervical), and type of cancer (differentiating primary cancer from metastases to other organs). While these nuances appear subtle, they can dramatically alter medical management. For example, different types of cardiac failure (structural, arrhythmia, and coronary artery disease) have inherited forms that are managed with vastly different approaches. Methods Using a dataset of over 6,200 individuals who underwent genetic screening, we compared the ability of genetic testing and traditional family health history to identify increased risk of inherited disease. A further, in-depth qualitative study of individuals for whom risk identified through each method was discordant, explored whether this discordance could be addressed through changes in family health history intake. Findings Of 90 individuals for whom genetic testing indicated significant increased risk for inherited disease, two-thirds (66%) had no corroborating family health history. Specifically, we identify cardiomyopathy, arrhythmia, and malignant hyperthermia as conditions for which discordance between genetic testing and traditional family health history was greatest, and familial hypercholesterolaemia, Lynch syndrome, and hereditary breast and ovarian cancer as conditions for which greater concordance existed. Conclusion We conclude that genetic testing offers utility as a supplement to traditional family health history intake over certain conditions. [ABSTRACT FROM AUTHOR]

Problem Addressed: To better understand the factors associated with family cancer history (FCH) information and cancer information seeking, we model the process an individual undergoes when assessing whether to gather FCH and seek cancer information and compare models by sociodemographics and family history of cancer. We used cross-sectional data from the Health Information National Trends Survey (HINTS 5, Cycle 2) and variables (e.g., emotion and self-efficacy) associated with the Theory of Motivated Information Management to assess the process of FCH gathering and information seeking. We completed path analysis to assess the process of FCH gathering and stratified path models. Results: Those who felt they could lower their chances of getting cancer (emotion) were more confident in their ability to complete FCH on a medical form (self-efficacy; B = 0.11, p <.0001) and more likely to have discussed FCH with family members (B = 0.07, p <.0001). Those who were more confident in their ability to complete a summary of their family history on a medical form were more likely to have discussed FCH with family members (B = 0.34, p <.0001) and seek other health information (B = 0.24, p <.0001). Stratified models showed differences in this process by age, race/ethnicity, and family history of cancer. Implications for Public Health Research and Practice: Tailoring outreach and education strategies to address differences in perceived ability to lower chances of getting cancer (emotion) and confidence in the ability to complete FCH (self-efficacy) could help encourage less engaged individuals to learn about their FCH and gather cancer information. [ABSTRACT FROM AUTHOR]

Abstract Background Systematically 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. Methods Hybrid 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. Setting:19 primary care clinics at four geographically and culturally diverse U.S. healthcare systems. Participants: any English or Spanish-speaking adult with an upcoming appointment at an enrolling clinic. Methods: A 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. Outcomes: provider and patient discussion and provider uptake (i.e. ordering) and patient uptake (i.e. recommendation completion) of CDS recommendations. Measures: patient and provider surveys and EMR data. Results One 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

Background: Obtaining comprehensive family health history (FHH) to inform colorectal cancer (CRC) risk management in primary care settings is challenging. Objective: To examine the effectiveness of a patient-facing FHH platform to identify and manage patients at increased CRC risk. Design: Two-site, two-arm, cluster-randomized, implementation-effectiveness trial with primary care providers (PCPs) randomized to immediate intervention versus wait-list control. Participants: PCPs treating patients at least one half-day per week; patients aged 40–64 with no medical conditions that increased CRC risk. Interventions: Immediate-arm patients entered their FHH into a web-based platform that provided risk assessment and guideline-driven decision support; wait-list control patients did so 12 months later. Main Measures: McNemar's test examined differences between the platform and electronic medical record (EMR) in rates of increased risk documentation. General estimating equations using logistic regression models compared arms in risk-concordant provider actions and patient screening test completion. Referral for genetic consultation was analyzed descriptively. Key Results: Seventeen PCPs were randomized to each arm. Patients (n = 252 immediate, n = 253 control) averaged 51.4 (SD = 7.2) years, with 83% assigned male at birth, 58% White persons, and 33% Black persons. The percentage of patients identified as increased risk for CRC was greater with the platform (9.9%) versus EMR (5.2%), difference = 4.8% (95% CI: 2.6%, 6.9%), p <.0001. There was no difference in PCP risk-concordant action [odds ratio (OR) = 0.7, 95% CI (0.4, 1.2; p = 0.16)]. Among 177 patients with a risk-concordant screening test ordered, there was no difference in test completion, OR = 0.8 [0.5,1.3]; p = 0.36. Of 50 patients identified by the platform as increased risk, 78.6% immediate and 68.2% control patients received a recommendation for genetic consultation, of which only one in each arm had a referral placed. Conclusions: FHH tools could accurately assess and document the clinical needs of patients at increased risk for CRC. Barriers to acting on those recommendations warrant further exploration. Trial Registration Number: ClinicalTrials.gov NCT02247336 https://clinicaltrials.gov/ct2/show/NCT02247336 [ABSTRACT FROM AUTHOR]

The collection of family health history (FHH) is an essential component of clinical practice and an important piece of data for patient risk assessment. However, family history data have generally been limited to diseases and have not included medication history. Family history was a key component of early pharmacogenetic research, confirming the role of genes in drug response. With the substantial number of known pharmacogenes, many affecting response to commonly prescribed medications, and the availability of clinical pharmacogenetic (PGx) tests and guidelines for interpretation, the collection of family medication history can inform testing decisions. This paper explores the roots of family-based pharmacogenetic studies to confirm the role of genes in these complex phenotypes and the benefits and challenges of collecting family medication history as part of family health history intake. [ABSTRACT FROM AUTHOR]

To measure the effect of maternal family history of hypertension on preterm birth (PTB) and to identify factors that modified this association. A case-control study was nested in a prospective cohort of the entire pregnant population in Wuhan, China, from 2011 to 2013. Home-visit interviews were scheduled for all PTBs and their controls, to collect extensive information on maternal exposures to behavioral, environmental, and intergenerational risk factors of PTB. The effects of maternal family history of hypertension on PTB were measured by logistic regression analyses, controlling for potential confounders. Potential effect modifiers were examined using stratified analyses. There were 2393 PTBs and 4263 full-term births out of all eligible births. A positive association was observed between maternal family history of hypertension and PTB, after adjusted for potential confounders (adjusted odds ratio: 1.17 [1.03, 1.33]). A higher effect was observed when mothers were exposed to certain noise during pregnancy (adjusted odds ratio: 1.37 [1.14, 1.65]) and/or when they did not take multivitamins during pregnancy (adjusted odds ratio: 1.46 [1.20, 1.78]), whereas, this association was weaker and no longer significant when mothers took multivitamins during pregnancy (adjusted odds ratio: 1.00 [0.84, 1.19]) and/or when they were not exposed to certain noise during pregnancy (adjusted odds ratio: 1.01 [0.85, 1.12]). The modification effect from maternal multivitamin intake was significant on both spontaneous and medically indicated PTBs, and the modification effect from maternal exposure to certain noise was only significant on spontaneous PTB. Increased PTB risk was observed for pregnant women with a family history of hypertension in Wuhan, China. This effect was stronger when pregnant women did not take multivitamin and/or exposed to certain noise during pregnancy, than those who took multivitamin and/or unexposed to certain noise. [ABSTRACT FROM AUTHOR]

Abstract Background Family health history (FHx) is an effective tool for identifying patients at risk of hereditary cancer. Hereditary cancer clinical practice guidelines (CPG) contain criteria used to evaluate FHx and to make recommendations for genetic consultation. Comparing different CPGs used to evaluate a common set of FHx provides insight into how well the CPGs perform, the extent of agreement across guidelines, and how well they identify patients who should consider a cancer genetic consultation. Methods We compare the American College of Medical Genetics and Genomics (ACMG) and the National Comprehensive Cancer Networks (NCCN) (2019) CPG criteria for FHx collected by a chatbot and evaluated by ontologies and web services in a previous study. Collected FHx met criteria from seven groups: Gene Mutation, Breast and Ovarian, Li-Fraumeni syndrome (LFS), Colorectal and Endometrial, Relative Meets Criteria, ACMG Only Criteria, and NCCN Testing. CPG Criteria were coded and matched across 12 ACMG sub-guidelines and 6 NCCN sub-guidelines for comparison purposes. Results The dataset contains 4915 records, of which 2221 met either ACMG or NCCN criteria and 2694 did not. There was significant overlap—1179 probands met both ACMG and NCCN criteria. The greatest similarities were for Gene Mutation and Breast and Ovarian criteria and the greatest disparity existed among Colorectal and Endometrial criteria. Only 156 positive gene mutations were reported and of the 2694 probands who did not meet criteria, 90.6% of them reported at least one cancer in their personal or family cancer history. Conclusion Hereditary cancer CPGs are useful for identifying patients at risk of developing cancer based on FHx. This comparison shows that with the aid of chatbots, ontologies, and web services, CPGs can be more efficiently applied to identify patients at risk of hereditary cancer. Additionally this comparison examines similarities and differences between ACMG and NCCN and shows the importance of using both guidelines when evaluating hereditary cancer risk.

Introduction: Primary care providers (PCPs) and oncologists lack time and training to appropriately identify patients at increased risk for hereditary cancer using family health history (FHx) and clinical practice guideline (CPG) criteria. We built a tool, "ItRunsInMyFamily" (ItRuns) that automates FHx collection and risk assessment using CPGs. The purpose of this study was to evaluate ItRuns by measuring the level of concordance in referral patterns for genetic counseling/testing (GC/GT) between the CPGs as applied by the tool and genetic counselors (GCs), in comparison to oncologists and PCPs. The extent to which non-GCs are discordant with CPGs is a gap that health information technology, such as ItRuns, can help close to facilitate the identification of individuals at risk for hereditary cancer. Methods: We curated 18 FHx cases and surveyed GCs and non-GCs (oncologists and PCPs) to assess concordance with ItRuns CPG criteria for referring patients for GC/GT. Percent agreement was used to describe concordance, and logistic regression to compare providers and the tool's concordance with CPG criteria. Results: GCs had the best overall concordance with the CPGs used in ItRuns at 82.2%, followed by oncologists with 66.0% and PCPs with 60.6%. GCs were significantly more likely to concur with CPGs (OR = 4.04, 95% CI = 3.35–4.89) than non-GCs. All providers had higher concordance with CPGs for FHx cases that met the criteria for genetic counseling/testing than for cases that did not. Discussion/Conclusion: The risk assessment provided by ItRuns was highly concordant with that of GC's, particularly for at-risk individuals. The use of such technology-based tools improves efficiency and can lead to greater numbers of at-risk individuals accessing genetic counseling, testing, and mutation-based interventions to improve health. [ABSTRACT FROM AUTHOR]

Knowledge of a person's potential to inherit certain diseases has rapidly become a valuable part of the discussion between provider and patient. Knowing the risk of hereditary disorders allows providers to include screening and diagnostic tests in a timely way. The family heath history is an easy and important tool for identification of risk for genetic diseases, including cancers. A project, which incorporated patient education and technology, was developed to improve the collection of family health history and identify high-risk patients for genetic cancers and/or diseases. [ABSTRACT FROM AUTHOR]

Family health history (FHH) can serve as an entry point for preventive medicine by providing risk estimations for many common health conditions. College is a critical time for young adults to begin to understand the value of FHH collection, and to establish healthy behaviors to prevent FHH-related diseases. This study seeks to develop an integrated theoretical framework to examine FHH collection behavior and associated factors among college students. A sample of 2670 college students with an average age of 21.1 years completed a web-based survey. Less than half (49.8%) reported actively seeking FHH information from their family members. Respondents' knowledge about FHH were generally low. Structural equation modeling findings suggested an adequate model fit between our survey data and the proposed integrated theoretical framework. Respondents who were members of racial/ethnic minority groups exhibited higher levels of anxiety and intention to obtain FHH information but had lower confidence in their ability to gather FHH information than non-Hispanic White respondents. Therefore, educational programs designed to enhance the level of young adults' FHH knowledge, efficacy, and behavior in FHH collection, and change subjective norms are critically needed in the future, especially for these who are members of racial/ethnic minority groups. [ABSTRACT FROM AUTHOR]

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.

IntroductionThe first line of action against cancer is primary and secondary prevention. Increased efforts are needed in countries where cancer mortality is high and the healthcare system is inefficient. Objectives: Our aim was to present a new solution to identify and fill gaps in health education services in accordance with the European Code Against Cancer (ECAC).Materials and MethodsThis study was carried out in a rural population of 122 beneficiaries of health education workshops financed by the Polish Cancer League. A self-developed questionnaire was used. PQStat v1.6.8. was also applied.ResultsOur respondents were mostly farmers (53.3%) and manual workers (16.4%). Most participants self-assessed their health knowledge as good (46.7%). While 42% of all respondents claimed to know the healthy eating pyramid, only 8.2% correctly recognised all of its principles and 23.8% realised the importance of limiting the consumption of red meat. The most commonly recognised cancer risk factor were genetics (72.1%), stimulants such as alcohol or tobacco (51.5%) and environmental pollution (45.1%). UV radiation was not commonly recognised as a risk factor by respondents despite high occupational exposure in this population. We found a high percentage of male smokers. As many as 64.8% of respondents had not been counselled on cancer prevention in their clinics. A family history of cancer (FHC) did not differentiate respondents' health knowledge, health behaviors, or frequency of receiving cancer prevention counselling. Health education and health promotion in the region were unsatisfactory.ConclusionsPrimary health care (PHC) should become more involved in promoting cancer prevention knowledge. One way could be to encourage health professionals to promote the ECAC. Cancer prevention should target especially persons with FHC and focus on modifiable cancer risk factors. At the workshops we were able to adjust the strength of each ECAC recommendation to best fit the target audience. By diagnosing and targeting specific communities, we can draw the attention of PHC staff and decision-makers to local health promotion needs, which is a good starting point for improving the situation. However, larger scale projects are needed to help design specific solutions to support primary healthcare in promoting ECAC.

One's experience with dementia may affect their perceptions about dementia preventability, which in turn could influence preventive health behaviors. We aimed to examine how having a family history of dementia and caregiving experience are associated with perceptions about and self-efficacy for dementia preventability. Cross-sectional, self-administered survey. Participants reported whether they have had a family member with dementia and, among those who reported having a family member with dementia, whether they served as a caregiver. Outcomes were perceptions about the likelihood of dementia preventability, self-efficacy for dementia prevention, and benefits of specific dementia prevention strategies. Associations were assessed via partial proportional odds model for ordinal outcome variables and logistic regression for binary outcome variables. Of 1,575 respondents, 71% had a family member with dementia, of which 42% served as a caregiver. People with a family member with dementia were less likely to believe that dementia is preventable (aOR = 0.75, 95% CI: 0.58, 0.96) and had lower self-efficacy for dementia prevention (aOR = 0.71, 95% CI: 0.56, 0.90). The subgroup analysis among those with caregiving experience was consistent with the primary findings, showing less belief in the likelihood of dementia preventability (aOR = 0.69, 95% CI: 0.46, 1.03) and self-efficacy (aOR = 0.75, 95% CI: 0.56, 1.00). Having a family member with dementia is associated with unfavorable perceptions about dementia preventability. Incorporating family history of dementia into communication efforts about dementia risk reduction may help address potential barriers to preventive health behaviors. [ABSTRACT FROM AUTHOR]

Introduction: Family health history can be a valuable indicator of risk to develop certain cancers. Unfortunately, patient self-reported family history often contains inaccuracies, which might change recommendations for cancer screening. We endeavored to understand the difference between a patient's self-reported family history and their electronic medical record (EMR) family history. One aim of this study was to determine if family history information contained in the EMR differs from patient-reported family history collected using a focused questionnaire. Methods: We created the Hereditary Cancer Questionnaire (HCQ) based on current guidelines and distributed to 314 patients in the Department of Family Medicine waiting room June 20 to August 1, 2018. The survey queried patients about specific cancers within their biological family to assess their risk of an inherited cancer syndrome. We used the questionnaire responses as a baseline when comparing family histories in the medical record. Results: Agreement between the EMR and the questionnaire data decreased as the patients' risk for familial cancer increased. Meaning that the more significant a patient's family cancer history, the less likely it was to be recorded accurately and consistently in the EMR. Patients with low-risk levels, or fewer instances of cancer in the family, had more consistencies between the EMR and the questionnaire. Conclusions: Given that physicians often make recommendations on incomplete information that is in the EMR, patients might not receive individualized preventive care based on a more complete family cancer history. This is especially true for individuals with more complicated and significant family history of cancer. An improved method of collecting family history, including increasing patient engagement, may help to decrease this disparity. [ABSTRACT FROM AUTHOR]

Background: Ensuring that first-degree relatives of patients diagnosed with cancer are included in the cancer screening programs will reduce the negative effects that may arise both for the individuals having the risk of cancer and for the community. In our study, we aimed to investigate the awareness and attitudes of the first-degree relatives of patients, who have received diagnosis of a cancer, toward cancer screening programs and to determine the risk factors for cancer.Methods: A questionnaire prepared by the researchers was conducted over the relatives of 234 cancer patients for determining their awareness about cancer and their attitudes toward participation in cancer screening programs. The data were analyzed using SPSS 22 software package.Results: 72.6% of the participants never heard about Cancer Early Diagnosis, Screening and Training Center, which has been established to carry out cancer screening programs in Turkey. Approximately half of the female participants did not participate in breast cancer and cervical cancer screenings (54.9% and 51.1%, respectively). The rate of those who had screening tests for colon cancer was less than one-fifth of all participants (19.8%). The above data show the low level of awareness of the participants about cancer.Conclusion: It has been observed that diagnosis of cancer in the first-degree relatives of the participants did not create awareness in these people at a level that would enable them to participate in cancer screening programs and make healthy lifestyle changes. [ABSTRACT FROM AUTHOR]

This case-control study aimed on the identification of factors that modified prostate cancer risk of patients in a public hospital of Paraíba. Data from 91 patients with prostate cancer and 91 agematched (±5 years) healthy controls were obtained from medical records and personal interviews. Odds ratios (ORs) and confidence intervals (CIs) were determined using regression analysis. Patients and controls were on average 69.56 (SD= 8.31) and 68.32 (SD= 7.68) years old (p = 0.297). In a model of multiple regression analysis, Afrodescendants and men who ever smoked had a 4.150 and 3.939 times increased risk (p < 0.001; p < 0.001). Family history of first-degree relatives was associated with a 6.967 (p < 0.001) increased risk of prostate cancer. African ancestry, smoking and family history increased the risk of prostate cancer. Recommendations of health authorities regarding prostate cancer screening could stronger focus on men with these risk factors. [ABSTRACT FROM AUTHOR]

Cancer carries stigma, taboos, and shame including, for diverse communities, who can have difficulty understanding and communicating about family health history genetic cancer screening (GCS). The Oregon Health Authority ScreenWise Program reached out to our academic-community research team to explore Asians and Micronesian Islanders (MI) perceptions on public health education outreach on GCS due to having previously only worked with the Latinx community. The purpose of the qualitative description pilot study was to elicit perceptions, beliefs, experiences, and recommendations from Asian and MI community leaders and community members regarding family health history GCS outreach in communities. Twenty Asians (Chinese and Vietnamese) and Micronesian Islanders (Chuukese and Marshallese) were recruited from the US Pacific Northwest. Nineteen participants are immigrants with an average 21.4 and 18.5 years having lived in the USA, respectively. Individual in-depth interviews were conducted using a semi-structured, open-ended interview guide and analyzed using conventional content analysis. Three main transcultural themes were identified: (1) degree of knowing and understanding cancer screening versus family health history GCS, (2) needing culturally relevant outreach messaging on family health history GCS, and (3) communication and decision-making regarding discussing with family and health care providers about cancer screening and GCS. Culturally relevant messaging rather than generic messaging is needed for inclusive outreach. Healthcare providers are encouraged to assess a client's family health history routinely because Asian and MI clients may not understand the information requested, may be hesitant to offer, or unable to provide information about their personal or family history of cancer. [ABSTRACT FROM AUTHOR]

Family health history is a well-established risk factor for many health conditions but the systematic collection of health histories, particularly for multiple generations and multiple family members, can be challenging. Routinely-collected electronic databases in a select number of sites worldwide offer a powerful tool to conduct multigenerational health research for entire populations. At these sites, administrative and healthcare records are used to construct familial relationships and objectively-measured health histories. We review and synthesize published literature to compare the attributes of routinely-collected, linked databases for three European sites (Denmark, Norway, Sweden) and three non-European sites (Canadian province of Manitoba, Taiwan, Australian state of Western Australia) with the capability to conduct population-based multigenerational health research. Our review found that European sites primarily identified family structures using population registries, whereas non-European sites used health insurance registries (Manitoba and Taiwan) or linked data from multiple sources (Western Australia). Information on familial status was reported to be available as early as 1947 (Sweden); Taiwan had the fewest years of data available (1995 onwards). All centres reported near complete coverage of familial relationships for their population catchment regions. Challenges in working with these data include differentiating biological and legal relationships, establishing accurate familial linkages over time, and accurately identifying health conditions. This review provides important insights about the benefits and challenges of using routinely-collected, population-based linked databases for conducting population-based multigenerational health research, and identifies opportunities for future research within and across the data-intensive environments at these six sites.

Abstract Background Family health history (FHH) inherently involves collecting proxy reports of health statuses of related family members. Traditionally, such information has been collected from a single informant. More recently, research has suggested that a multiple informant approach to collecting FHH results in improved individual risk assessments. Likewise, recent work has emphasized the importance of incorporating health-related behaviors into FHH-based risk calculations. Integrating both multiple accounts of FHH with behavioral information on family members represents a significant methodological challenge as such FHH data is hierarchical in nature and arises from potentially error-prone processes. Methods In this paper, we introduce a statistical model that addresses these challenges using informative priors for background variation in disease prevalence and the effect of other, potentially correlated, variables while accounting for the nested structure of these data. Our empirical example is drawn from previously published data on families with a history of diabetes. Results The results of the comparative model assessment suggest that simply accounting for the structured nature of multiple informant FHH data improves classification accuracy over the baseline and that incorporating family member health-related behavioral information into the model is preferred over alternative specifications. Conclusions The proposed modelling framework is a flexible solution to integrate multiple informant FHH for risk prediction purposes.

Background: Family health history (FHx) is an effective tool for identifying patients at risk of hereditary cancer. Hereditary cancer clinical practice guidelines (CPG) contain criteria used to evaluate FHx and to make recommendations for genetic consultation. Comparing different CPGs used to evaluate a common set of FHx provides insight into how well the CPGs perform, the extent of agreement across guidelines, and how well they identify patients who should consider a cancer genetic consultation. Methods: We compare the American College of Medical Genetics and Genomics (ACMG) and the National Comprehensive Cancer Networks (NCCN) (2019) CPG criteria for FHx collected by a chatbot and evaluated by ontologies and web services in a previous study. Collected FHx met criteria from seven groups: Gene Mutation, Breast and Ovarian, Li-Fraumeni syndrome (LFS), Colorectal and Endometrial, Relative Meets Criteria, ACMG Only Criteria, and NCCN Testing. CPG Criteria were coded and matched across 12 ACMG sub-guidelines and 6 NCCN sub-guidelines for comparison purposes. Results: The dataset contains 4915 records, of which 2221 met either ACMG or NCCN criteria and 2694 did not. There was significant overlap—1179 probands met both ACMG and NCCN criteria. The greatest similarities were for Gene Mutation and Breast and Ovarian criteria and the greatest disparity existed among Colorectal and Endometrial criteria. Only 156 positive gene mutations were reported and of the 2694 probands who did not meet criteria, 90.6% of them reported at least one cancer in their personal or family cancer history. Conclusion: Hereditary cancer CPGs are useful for identifying patients at risk of developing cancer based on FHx. This comparison shows that with the aid of chatbots, ontologies, and web services, CPGs can be more efficiently applied to identify patients at risk of hereditary cancer. Additionally this comparison examines similarities and differences between ACMG and NCCN and shows the importance of using both guidelines when evaluating hereditary cancer risk. [ABSTRACT FROM AUTHOR]

Introduction: Family Health Histories (FHH) have been endorsed by the surgeon general as a powerful yet underutilized tool for identifying individuals at risk for complex chronic diseases such as diabetes, heart disease, and cancer. FHH tools provide a mechanism for increasing communication about disease history and motivating behavior change to reduce disease risk. A critical gap in translation efforts includes a lack of research that adapts and evaluates tools for low-income, minority populations who experience disparities in chronic disease. Methods: This study is a formative mixed-methods evaluation of an evidence-based FHH intervention called "Families SHARE" among African Americans residing in low-income neighborhoods. Participants (N = 51) completed assessments before and 6 weeks after receiving the intervention, including surveys and focus groups. We evaluated (a) their use, understanding, and perceived value of the tool; (b) if the intervention led to increased intentions to adopt disease risk-reducing behaviors among those with heightened disease risk, given their FHH; and (c) acceptability of and recommendations for the tool. Results: The quantitative and qualitative data indicated that this population valued and used the tool, and it prompted communication about FHH with family, friends, and others. Receipt of the intervention resulted in mixed accuracy of their perceived disease risk, and it did not shift intentions to change health behaviors. Qualitative data provide insights for future iterations of the Families SHARE tool. Conclusion: Families SHARE is an engaging FHH tool that can be further tailored to optimize its value and benefits for low-income African Americans. [ABSTRACT FROM AUTHOR]

Family health history (FHH) is a valuable yet underused healthcare tool for assessing health risks for both prevalent disorders like diabetes, cancer, and cardiovascular diseases, and for rare, monogenic disorders. Full implementation of FHH collection and analysis in healthcare could improve both primary and secondary disease prevention for individuals and, through cascade testing, make at risk family members eligible for pre-symptomatic testing and preventative interventions. In addition to risk assessment in the clinic, FHH is increasingly important for interpreting clinical genetic testing results and for research connecting health risks to genomic variation. Despite this value, diverse implementation gaps in clinical settings undermine its potential clinical value and limit the quality of connected health and genomic data. The NHGRI Family Health History Group, an open-membership, US-based group with international members, believes that integrating FHH in healthcare and research is more important than ever, and that achievable implementation advances, including education, are urgently needed to boost the pace of translational utility in genomic medicine. An inventory of implementation gaps and proposed achievable strategies to address them, representing a consensus developed in meetings from 2019–2020, is presented here. The proposed measures are diverse, interdisciplinary, and are guided by experience and ongoing implementation and research efforts. [ABSTRACT FROM AUTHOR]

Objectives: This study is a randomized controlled trial comparing the efficacy of a virtual counselor (VICKY) to the My Family Health Portrait (MFHP) tool for collecting family health history (FHx).Methods: A total of 279 participants were recruited from a large safety-net hospital and block randomized by health literacy to use one of the digital FHx tools, followed by a genetic counselor interview. A final sample of 273 participants were included for analyses of primary study aims pertaining to tool concordance, which assessed agreement between tool and genetic counselor.Results: Tool completion differed significantly between tools (VICKY = 97%, MFHP = 51%; p < .0001). Concordance between tool and genetic counselor was significantly greater for participants randomized to VICKY compared to MFHP for ascertaining first- and second-degree relatives (ps<.0001), and most health conditions examined. There was significant interaction by health literacy, with greater differences in concordance observed between tools among those with limited literacy.Conclusions: A virtual counselor overcomes many of the literacy-related barriers to using traditional digital tools and highlights an approach that may be important to consider when collecting health histories from vulnerable populations.Practice Implications: The usability of digital health history tools will have important implications for the quality of the data collected and its downstream clinical utility. [ABSTRACT FROM AUTHOR]

Objective: This study examined the effects of the first family health history (FHH)-based colorectal cancer (CRC) prevention education on 1) FHH of CRC communication with family members and primary care physicians (PCPs), 2) fecal occult blood test (FOBT) uptake, and 3) CRC preventive lifestyle modifications among 50- to 75-year-old Chinese Americans non-adherent to CRC screening guidelines.Methods: Using a community-based participatory research approach, we developed and implemented 62 culturally and linguistically appropriate, theory-driven, FHH-based CRC prevention educational workshops across Texas for 344 Chinese Americans (mostly with low education/income) aged 50-75 years who were non-adherent to CRC screening guidelines.Results: Linear mixed modeling analyses showed that participants' FHH of CRC communication with PCPs and family members significantly increased two-week post-workshop compared to pre-workshop data (ps<0.001). Moreover, at two-weeks post-workshop, 91.9 % of participants underwent FOBT. Nevertheless, no significant changes were found in participants' lifestyles.Conclusion: Our educational workshops successfully increased Chinese Americans' FHH of CRC communication and FOBT uptake. Personalized education with longer follow-ups may be needed in future studies to promote lifestyle changes among Chinese Americans.Practice Implications: Health and public health professionals may adopt our workshop educational materials to provide patient and public CRC prevention education for Chinese Americans. [ABSTRACT FROM AUTHOR]

Objective: Family health history is important to clinical care and precision medicine. Prior studies show gaps in data collected from patient surveys and electronic health records (EHRs). The All of Us Research Program collects family history from participants via surveys and EHRs. This Demonstration Project aims to evaluate availability of family health history information within the publicly available data from All of Us and to characterize the data from both sources.Materials and Methods: Surveys were completed by participants on an electronic portal. EHR data was mapped to the Observational Medical Outcomes Partnership data model. We used descriptive statistics to perform exploratory analysis of the data, including evaluating a list of medically actionable genetic disorders. We performed a subanalysis on participants who had both survey and EHR data.Results: There were 54 872 participants with family history data. Of those, 26% had EHR data only, 63% had survey only, and 10.5% had data from both sources. There were 35 217 participants with reported family history of a medically actionable genetic disorder (9% from EHR only, 89% from surveys, and 2% from both). In the subanalysis, we found inconsistencies between the surveys and EHRs. More details came from surveys. When both mentioned a similar disease, the source of truth was unclear.Conclusions: Compiling data from both surveys and EHR can provide a more comprehensive source for family health history, but informatics challenges and opportunities exist. Access to more complete understanding of a person's family health history may provide opportunities for precision medicine. [ABSTRACT FROM AUTHOR]

Information technology applications for patient-collection of family health history (FHH) increase identification of elevated-risk individuals compared to usual care. It is unknown if the method of collection impacts data collected or if simply going directly to the patient is what makes the difference. The objective of this study was to examine differences in data detail and risk identification rates between FHH collection directly from individuals using paper-based forms and an interactive web-based platform. This is a non-randomized epidemiologic study in Singaporean population from 2016 to 2018. Intervention was paper-based versus web-based interactive platform for FHH collection. Participant demographics, FHH detail, and risk assessment results were analyzed. 882 participants enrolled in the study, 481 in the paper-based group and 401 in the web-based group with mean (SD) age of 45.4 (12.98) years and 47.5% male. Web-based FHH collection participants had an increased number of conditions per relative (p-value

The aim of this integrative review is to investigate current literature regarding family health history (FHH) taking practices, attitudes, and challenges in the pediatric outpatient setting. FHH is a known clinical tool for providers; however, there are no explicit standards for pediatric FHH collection. The integrative review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. PubMed, Embase, CINAHL, PsycINFO, and Cochrane databases were searched for publications between January 2010 and December 2019, and 8 articles were selected for evaluation. Three themes are explored in this review: FHH collection practices, challenges, and tools. FHH collection practices were found to be inconsistent and the most commonly cited challenge was time. No validated FHH collection tools have been identified for the pediatric population. These findings suggest the need for standardization in FHH collection and further development of tools to improve FHH collection. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background: There is a significant shortage of genomics training curricula targeting health education (HE) students. This study assessed the impact of an online theory-based genomics short course focusing on family health history (FHH) to undergraduate HE students. Materials & methods: Junior and senior HE students (n = 69) at a research-intensive university completed the course and took the pre- and post-course surveys. Results: Participants demonstrated positive improvements in their scores regarding FHH knowledge as well as attitudes, intention and confidence in adopting FHH-based genomics skills into future practice. They also showed satisfaction with the genomics course. Conclusion: Based on the initial success of the results, offering this genomics course to more HE students for further testing is recommended in the future. [ABSTRACT FROM AUTHOR]

Genomic technologies are having an increasing impact across medicine, including primary care. To enable their wider adoption and realize their potential, education of primary health-care practitioners will be required. To enable the development of such resources, understanding where GPs currently access genomic information is needed. One-hundred fifty-nine UK GPs completed the survey in response to an open invitation, between September 2017 and September 2018. Questions were in response to 4 clinical genomic scenarios, with further questions exploring resources used for rare disease patients, direct-to-consumer genetic testing and collecting a family history. Respondents were most commonly GP principals (independent GPs who own their clinic) (64.8%), aged 35–49 years (54%), worked as a GP for more than 15 years (44%) and practiced within suburban locations (typically wealthier) (50.3%). The most popular 'just in time' education source for all clinical genomic scenarios were online primary care focussed resources with general Internet search engines also popular. For genomic continuous medical education, over 70% of respondents preferred online learning. Considering specific scenarios, local guidelines were a popular resource for the familial breast cancer scenario. A large proportion (41%) had not heard of Genomics England's 100,000 genome project. Few respondents (4%) would access rare disease specific Internet resources (Orphanet, OMIM). Twenty-five percent of respondents were unsure how to respond to a direct-to-consumer commercial genetic test query, with 41% forwarding such queries to local genetic services. GPs require concise, relevant, primary care focussed resources in trusted and familiar online repositories of information. Inadequate genetic education of GPs could increase burden on local genetic services. [ABSTRACT FROM AUTHOR]

Family health history (FHH) screening plays a key role in disease risk identification and tailored disease prevention strategies. Primary care physicians (PCPs) are in a frontline position to provide personalized medicine recommendations identified through FHH screening; however, adoption of FHH screening tools has been slow and inconsistent in practice. Information is also lacking on PCP facilitators and barriers of utilizing family history tools with clinical decision support (CDS) embedded in the electronic health record (EHR). This study reports on PCPs' initial experiences with the Genetic and Wellness Assessment (GWA), a patient-administered FHH screening tool utilizing the EHR and CDS. Semi-structured interviews were conducted with 24 PCPs who use the GWA in a network of community-based practices. Four main themes regarding GWA implementation emerged: benefits to clinical care, challenges in practice, CDS-specific issues, and physician-recommended improvements. Sub-themes included value in improving patient access to genetic services, inadequate time to discuss GWA recommendations, lack of patient follow-through with recommendations, and alert fatigue. While PCPs valued the GWA's clinical utility, a number of challenges were identified in the administration and use of the GWA in practice. Based on participants' recommendations, iterative changes have been made to the GWA and workflow to increase efficiency, upgrade the CDS process, and provide additional education to PCPs and patients. Future studies are needed to assess a diverse sample of physicians' and patients' perspectives on the utility of FHH screening utilizing EHR-based genomics recommendations. [ABSTRACT FROM AUTHOR]

Asian Americans are the fastest growing racial/ethnic group in the USA, as this population increased by 72% between 2000 and 2015. Chinese Americans are the largest Asian subgroup, with a high immigrant proportion (63%), a high poverty rate (14%), and a large percentage of low English competency (41%). Colorectal cancer (CRC) is the second most commonly diagnosed cancer and cause of cancer death among Chinese Americans. As CRC has a genetic predisposition, family health history (FHH) has been proposed as a preventive tool to stratify CRC risk and guide personalized screening and behavioral modifications. The purpose of this study was to adopt a community-based participatory research (CBPR) approach to develop the first culturally and linguistically appropriate FHH-based CRC prevention program for Chinese Americans in Texas. The program development involved five CBPR steps: (1) establishment of partnership and research team, (2) literature review and needs assessment, (3) creation of a theoretical framework of the FHH-based CRC prevention, (4) development a culturally and linguistically appropriate intervention, and (5) program evaluation. Key components of this program included two intervention activities: (1) a culturally and linguistically appropriate FHH-based CRC prevention workshop and (2) a follow-up individualized phone consultation and health insurance enrollment and navigation services (if needed). The pilot study suggested feasibility of the program. This CBPR-grounded, FHH-based CRC prevention project can serve as a model for future cancer prevention programs targeting other types of cancers that also have FHH components. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Abstract Background The Tohoku Medical Megabank project aims to create a next-generation personalized healthcare system by conducting large-scale genome-cohort studies involving three generations of local residents in the areas affected by the Great East Japan Earthquake. We collected medical and genomic information for developing a biobank to be used for this healthcare system. We designed a questionnaire-based pedigree-creation software program named “f-treeGC,” which enables even less experienced medical practitioners to accurately and rapidly collect family health history and create pedigree charts. Results f-treeGC may be run on Adobe AIR. Pedigree charts are created in the following manner: 1) At system startup, the client is prompted to provide required information on the presence or absence of children; f-treeGC is capable of creating a pedigree up to three generations. 2) An interviewer fills out a multiple-choice questionnaire on genealogical information. 3) The information requested includes name, age, gender, general status, infertility status, pregnancy status, fetal status, and physical features or health conditions of individuals over three generations. In addition, information regarding the client and the proband, and birth order information, including multiple gestation, custody, multiple individuals, donor or surrogate, adoption, and consanguinity may be included. 4) f-treeGC shows only marriages between first cousins via the overlay function. 5) f-treeGC automatically creates a pedigree chart, and the chart-creation process is visible for inspection on the screen in real time. 6) The genealogical data may be saved as a file in the original format. The created/modified date and time may be changed as required, and the file may be password-protected and/or saved in read-only format. To enable sorting or searching from the database, the file name automatically contains the terms typed into the entry fields, including physical features or health conditions, by default. 7) Alternatively, family histories are collected using a completed foldable interview paper sheet named “f-sheet”, which is identical to the questionnaire in f-treeGC. Conclusions We developed a questionnaire-based family tree-creation software, named f-treeGC, which is fully compliant with international recommendations for standardized human pedigree nomenclature. The present software simplifies the process of collecting family histories and pedigrees, and has a variety of uses, from genome cohort studies or primary care to genetic counseling.