Family Health History Research Articles

EP483: Integrating family health history screening and genetic testing via electronic health record with clinical decision support in routine mammography screening

Family health history (FHH) screening plays a key role in identifying individual and familial risks to health conditions and tailoring screening and prevention strategies based on patient’s risk assessment. Screening for patient’s FHH also identifies individuals who benefit from genetic testing services. The US Prevention Services Task Force (USPSTF) recommends that primary care providers (PCP) utilize an appropriate risk assessment tool to assess individuals with a personal and family history of cancer types associated with pathogenic variants in the BRCA1/2 genes.

EP506: Implementing diverse community engagement studios: The Family History and Cancer Risk Study (FOREST) at Vanderbilt and Meharry Medical College

From the earliest recognition of families with a high rate of cancer over 100 years ago, researchers have been focused on the genetic underpinnings of inherited cancers; however, identification remains a significant challenge due to persistent barriers across patient, provider, and health system stakeholders, despite recent advances in the development of electronic medical records (EMR) and risk prediction tools that use family health history (FHH) information. Innovations in bioinformatic technology hold great promise in overcoming many of these barriers, particularly with the development of FHH applications that collect and analyze family data and SMART-on-FHIR capabilities that can integrate third-party apps with the EMR.

EP489: Exploring engagement and uptake of a comprehensive family history-based cancer risk assessment tool

It is challenging to identify individuals at risk of a hereditary cancer syndrome as it requires assessment of both personal and family health history, the latter of which may not be routinely collected and/or updated by healthcare providers. A possible solution is to use a patient-facing computer platform that electronically collects family health history (FHH) information for hereditary cancer syndromes and other health conditions. This could improve genomic healthcare by identifying at-risk individuals in a health system.

Evaluation and Multidisciplinary Treatment of a Patient with Temporomandibular Disorder

Demonstrate that patients with signs and symptoms of the temporomandibular joint, prior to orthodontic treatment, should be treated multidisciplinary A 31-year-old female, a student at the Mexican Center for Stomatology, with a personal and family health history and orthodontic treatment who came to the clinic for presenting symptoms of pain in the face over the region of the bilateral temporomandibular joint, with alterations of the function, which radiated to the neck and back of several months of evolution. The clinical findings presented by the patient were: wear on the upper anterior teeth. The pain map diagnostic index was used, photographs of the face, whole body from the front and sides, panoramic radiography, lateral skull, anteroposterior and spine, articulated models in semi-adjustable articulator, this facilitated us to diagnose joint disorders. The proposed treatment was multidisciplinary treatment: Neuro-muscular rehabilitation and the use of physical agents, massage therapy, Kinesiology and manual therapy. The multidisciplinary treatment of occlusal guard by stomatology and the combination of physical agents, Kinesiology and manual therapy by physiotherapy, demonstrated excellent results with the disappearance of the symptoms in the patient, improved her expectations. Giving you a better quality of life.

How back pain intensity relates to clinical and psychosocial factors in patients with idiopathic scoliosis.

A pain intensity of 3 can reliably distinguish idiopathic scoliosis (IS) patients with acceptable pain or not. This research aims to analyze psychosocial, family and quality of life differences in patients according to their pain status. Patients with IS, without previous surgery, Cobb ≥ 30° and age (12-40) were included in the study. They completed the questionnaires Numerical Rate Scale (NRS), Tampa Scale for Kinesiophobia (TSK)-11, SRS22r, Hospital Anxiety-Depression Scale (HADS), COMI item 7 (work/school absenteeism) and family APGAR. Comorbidities and family health history were collected. Analysis of covariance was performed to compare means between the PAIN (NRS > 3), (NRS < = 3) groups controlling for the effect of age and the magnitude of the curve. In total, 272 patients were included. 37.1% belonged to the PAIN group (PG). The PG showed a significantly higher Cobb grade and age than the NO-PAIN group. After controlling for these variables, the PG had worse pain, mental health and SRS22-subtotal values. However, they did not differ in function or self-image. PG showed higher levels of kinesiophobia, anxiety, depression, absenteeism from work/school and impact on social/family environment. PG patients reported a higher prevalence of comorbidities and family history of nonspecific spinal pain. Patients with IS and unacceptable pain constitute a group with a different incidence of psychological, social, family and comorbidities factors than those with acceptable pain. In contrast, the severity of IS was not substantially different between the groups. This profile is similar to that observed in patients with nonspecific spinal pain.

Research on Postgraduates’ Physical Exercise Behavior and Motivation

In China, graduate students are facing heavy pressure from study, work and life. In order to change this situation, many colleges and universities have set up PE elective courses, but the proportion of elective courses is generally low, and the health status of students has not been fundamentally improved. The purpose of this study is to investigate the current situation and motivation of Postgraduates' physical exercise, and explore ways to attract more postgraduates to participate in physical exercise and promote their health. The study mainly adopts the methods of experiment and questionnaire. Two classes of students who chose PE elective courses are selected as the experimental objects. Students in Experimental class were given motivation stimulation, while another class were not. Sports stimulation includes combing family health history, inculcating the role through cases, monitoring students' physique, etc. The two classes had same exercise time (once a week, 90 minutes each time), same exercise method (intermittent cycle training for 16 weeks). In addition, this study uses Professor Chen Shanping's sports motivation scale to conduct a questionnaire survey on the graduate students participating in the experiment. Pearson analysis method in SPSS software was conducted to analyze the correlation between sports motivation and sports behavior. The students in the experimental class exercise better after class than those in the control class. Girls' physical and social motivation of physical exercise is much higher than boys, while boys' ability and motivation of physical exercise are significantly higher than boys. Different physical exercise motives have significant effects on physical exercise methods and physical exercise frequency. It is concluded that motivation stimulation is conducive to the formation of exercise behavior and there is a positive correlation between physical exercise motivation and physical exercise behavior.

Automated Clinical Practice Guideline Recommendations for Hereditary Cancer Risk Using Chatbots and Ontologies: System Description.

BackgroundIdentifying patients at risk of hereditary cancer based on their family health history is a highly nuanced task. Frequently, patients at risk are not referred for genetic counseling as providers lack the time and training to collect and assess their family health history. Consequently, patients at risk do not receive genetic counseling and testing that they need to determine the preventive steps they should take to mitigate their risk.ObjectiveThis study aims to automate clinical practice guideline recommendations for hereditary cancer risk based on patient family health history.MethodsWe combined chatbots, web application programming interfaces, clinical practice guidelines, and ontologies into a web service–oriented system that can automate family health history collection and assessment. We used Owlready2 and Protégé to develop a lightweight, patient-centric clinical practice guideline domain ontology using hereditary cancer criteria from the American College of Medical Genetics and Genomics and the National Cancer Comprehensive Network.ResultsThe domain ontology has 758 classes, 20 object properties, 23 datatype properties, and 42 individuals and encompasses 44 cancers, 144 genes, and 113 clinical practice guideline criteria. So far, it has been used to assess >5000 family health history cases. We created 192 test cases to ensure concordance with clinical practice guidelines. The average test case completes in 4.5 (SD 1.9) seconds, the longest in 19.6 seconds, and the shortest in 2.9 seconds.ConclusionsWeb service–enabled, chatbot-oriented family health history collection and ontology-driven clinical practice guideline criteria risk assessment is a simple and effective method for automating hereditary cancer risk screening.

Factors Associated with Obesity Incidence in the Military Command XIV/Hasanuddin Makassar

The prevalence of obesity in Indonesia over the age of 18 years old is around 21.8%, South Sulawesi 19.1%, and Makassar is 24.05%. The highest prevalence in South Sulawesi, is higher than the prevalence rate of South Sulawesi and the national. The purpose of this study was to determine the factors related to the obesity of army in XIV/Hasanuddin Kesdam Unit in 2021. The research method of this study used a cross sectional study with 92 total sample whose has been taken with simple random sampling method. The results showed that there were a relationship among family health history (p = 0.003), energy intake (p = 0.000), and physical activity (p = 0.016) and obesity in Kesdam XIV/Hasanuddin Makassar army. The conclusion of this study is that if one or both of the respondent's parents have obesity record and excessive energy intake, it will be associated with obesity. Therefore, sufficient physical activity will prevent the obesity.

Self-rated family health history knowledge among All of Us program participants

PurposeDisparities in access to genetics services are well-documented. Family health history is routinely used to determine whether patients should be screened for heritable conditions. We sought to explore variation in levels of self-rated family health history knowledge as a possible contributer to this disparity. MethodsWe performed a cross-sectional analysis of survey data from the All of Us Research Program. We compared the characteristics of participants who reported “None,” “Some”, and “A lot” of family health history knowledge using multinomial logistic regression. ResultsSelf-rated family health history data were available for 116,799 participants. A minority of survey participants (37%) endorsed “A lot” of knowledge about their family health history (n = 43,661). Most participants (60%) endorsed “Some” family health history knowledge (n = 69,914) and 3% (n = 3224) endorsed “None.” In adjusted analyses, those who indicated “Some” family health history knowledge or “None” were more likely to be assigned male sex at birth, identify as possible gender and sexual minorities, have a self-reported race other than White, have a lower household annual income (<$25,000), or report lower educational attainment (<high school graduate) than those who endorsed “A lot” of knowledge and the reference groups. ConclusionFamily health history knowledge may be limited, especially among traditionally underserved populations.

My Family Health Portrait

My Family Health Portrait is a tool from the United States Surgeon General to assist users with creating a family health history. This tool allows users to learn about health risks that reappear in families and can be taken to health care providers to assist with diagnoses and treatments. This tool was developed by the National Institutes of Health and is maintained by the Centers for Disease Control and Prevention. Utilizing the My Family Health Portrait can encourage people to stay healthy by being aware of their family health history.

Comparison of a Focused Family Cancer History Questionnaire to Family History Documentation in the Electronic Medical Record.

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.

Risk perception and communal coping in families affected by type 2 diabetes

Despite a recent decline, rates of type 2 diabetes remain high among older adults. Preventing and delaying the onset of the condition with lifestyle changes is key to reducing disease burden in the population. Type 2 diabetes is a complex disease, likely a result from the joint effect of genetic, socio-environmental and lifestyle risk factors that are clustered in families. As such, the prevention of type 2 diabetes is a communal coping process, where individuals communicate about risk and establish routines to facilitate one another’s health habits and compliance with therapeutics. This poster investigates how such a process is affected by one’s perception of risk based on his/her knowledge about family health history (FHH). We collected family network data from families of different racial backgrounds in the greater Cincinnati area (28 white and 17 black/ African American households; 127 participants). The analysis focuses on how the density of diabetes diagnosis in one’s FHH affects communication about shared risk for type 2 diabetes and encouragement to maintain or adopt a healthy lifestyle. Results suggest a higher concentration of diabetes diagnosis in one’s FHH is associated with a higher number of risk communication ties in all families. With regards to encouragement ties, high rates of diabetes diagnosis in FHH are associated with an increased number of encouragement ties only in families of black/African heritage. The findings highlight the need and promise of using FHH to motivate co-encouragement to maintain/adopt a healthier lifestyle in families of black/African heritage.

Situación de los estudiantes de la licenciatura en enfermería en tiempos de pandemia

The emergence of the pandemic produced by the COVID-19 virus produced a series of changes in many areas of society, including education. Due to the need for social confinement, face-to-face classes were suspended. In this context, the vulnerability of the health systems was evidenced and the need and importance of having adequate and trained nursing professionals available. In this way, the teaching need arises to know the characteristics of the student population of the professionalization program of nursing assistants who study the adult and elderly module in terms of their personal and family aspects, study, health history, working conditions and attitude versus the role of the nursing professional in the context of a pandemic. Objective: The objective of this work was to analyze the situation of the student population who are studying the adult and elderly module of the nursing degree in the professionalization of nursing assistants program according to socio-demographic, family, work and academic variables. Method: Study of a quantitative approach of descriptive design through the use of a questionnaire of closed and open questions. Results: As the workplace perceived as a possible vector, the surveyed students perceive fear, anxiety and uncertainty regarding the pandemic context, despite the fact that the protocols and personal care complied with.

Case Challenge: Nulliparous Cardiac Challenges: A Diagnostic Case

In this case challenge, a healthy 27-year-old woman presents for a routine new patient visit to establish care and is found to be pregnant. The assessment detects an audible heart murmur. Pregnancy-induced murmurs are a common finding. In this case, however, the key to understanding causation includes a thorough individual and family health history. In this situation, knowing when and who to refer patients to is essential in optimizing the health of the mother and infant.

Comparison of a Cancer Family History Collection and Risk Assessment Tool – ItRunsInMyFamily – with Risk Assessment by Health-Care Professionals

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.

The Influence of Family Communication Patterns and Identity Frames on Perceived Collective Psychological Ownership and Intentions to Share Health Information

ABSTRACT An experimental study exposed participants (N = 299) to different message frames to investigate whether Family Communication Patterns (FCP) and message characteristics influenced willingness to communicate about Family Health History (FHH). Message frames were either collective (our), individual (mine), or control (no pronouns). Afterward, participants were asked about their perceived collective psychological ownership of health information, attitudes, subjective norms, and FHH communication intentions. Although the message frames had no impact on perceived collective psychological ownership of health information, conversation orientation and conformity orientation (respecting parental authority) were positively associated with perceived collective psychological ownership of health information. Additionally, perceived collective psychological ownership, attitudes, and subjective norms were found to have indirect effects between FCP and FHH communication intentions. These findings provide further support that FCP influences how health message appeals are processed and suggest interventions could be tailored to FCP orientations for effective FHH behaviors.

Determination of test performance of two contemporary screening tests for Lynch syndrome in endometrial cancer: A clinical trial

Background/purposePublished data on the performance of the immunohistochemistry (IHC) test for mismatch repair (MMR) protein expression to detect Lynch syndrome (LS) index cases suggests it is highly variable; its performance in our system was unknown. Moreover, a brief family history questionnaire (bFHQ) developed by Eiriksson and colleagues in Canada demonstrated 100% sensitivity for LS case identification thus was of interest to us, but its performance outside of its original setting was unknown. Determination of the performance of these tests requires complete LS case identification in the testing population. MethodsTwo hundred women were recruited during routine care for endometrial cancer (EC) to administer the bFHQ and perform genetic testing for the LS genes. Independently, the IHC test was performed to screen for presumptive LS cases. We determined the sensitivity, specificity, and positive and negative predictive values of the bFHQ and IHC test as well as simulating outcomes of the complete protocols. ResultsGenetic testing all participants identified 8 cases of LS out of 200 (4% prevalence), the bFHQ identified 5 of 8 of these cases (62.5%, CI: 31.5%–87.6%), and the IHC test identified 6 or 7 of 8 cases (mean of 75% or 87.5%) depending on interpretation of test results. The specificities of the bFHQ and IHC test were 56.8% (CI: 49.8%–63.7%) and 79.8% (CI: 73.6%–85.1%), respectively. ConclusionsThis study is the first, to our knowledge, to test the effectiveness of the bFHQ in an EC population since its original reporting; our results are consistent with many reports of the challenges of collecting family health history. The performance of the IHC test as a screen falls within ranges reported in the literature but do not provide the confidence to drive a decision for or against continued use of this test as a LS screen.

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

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.

Mothers’ Strategies for Promoting Children’s Healthy Eating, Physical Activity, and Screen-Related Behaviors

Parents model and teach early health practices that persist into adulthood by establishing a family culture through which children learn related family beliefs, values, and expectations. This phenomenological study examined the ways in which a purposefully selected group of mothers (selected due to their high scores on the Family Nutrition and Physical Activity screening tool) shaped family culture related to physical activity, addressed screen-time behaviors, and established positive eating related routines. Findings related to mothers’ knowledge and belief systems about parenting within this domain pointed to the impact of family health history and mothers’ own upbringing; a finding that reinforced the powerful nature of early habit formation. Mothers prioritized this parenting domain and were intentional in their efforts as they maneuvered threats from the obesigenic environment and worked to support their children’s developing autonomy over related behaviors. This study presents a strengths perspective and imparts a new narrative which serves to complement existing obesity research in representative and at-risk populations.

Multigenerational health research using population-based linked databases: an international review.

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.