Family Health History Research Articles

Hemophagocytic lymphohistiocytosis, what about hair?

A 1-month-old boy, born to nonconsanguineous parents, without notable family health history, presented with febrile pancytopenia and splenomegaly. Clinical examination disclosed no other anomaly, notably no neurological alteration. His initial complete blood count showed normocytic anemia (hemoglobin 105 g/L), thrombocytopenia (84 × 109/L), and neutropenia (0.8 × 109/L) without lymphopenia. Upon worsening of this pancytopenia, associated with persistent fever despite antibiotics, a bone marrow aspirate revealed no blasts but the presence of histiocytes with hemophagocytosis (Image 1A). High serum triglycerides, ferritin, and lactic dehydrogenase were observed at respectively 3.3 mmol/L, 71 000 μg/L, and 788 U/L together with hypofibrinogenemia (1.1 g/L). Molecular tests for toxoplasmosis, HSV, EBV, CMV, HHV6, and parvovirus B19 were negative. Clinical examination revealed the presence of partial albinism with silver-gray hair. This feature associated to the biological anomalies, evoked a diagnosis of Griscelli or Chediak Higashi syndrome. However, bone marrow cells did not contain giant cytoplasmic granulations. Moreover, microscopic analysis of hair revealed clumps of melanin of various sizes irregularly distributed throughout the hair shaft, suggestive of Griscelli syndrome (Image 1B,C). Cerebrospinal fluid (CSF) analysis revealed hyperproteinorachia (0.73 g/L) and 20/μL leucocytes (92% lymphocytes CD4+, CD3+, DR+, CD25−) in favor of asymptomatic central nervous system hemophagocytic lymphohistiocytosis (HLH). Sequencing of the RAB27 gene in a blood sample finally revealed a homozygous missense mutation in exon 3, confirming the diagnosis of type 2 Griscelli syndrome.1 Corticosteroid therapy was initiated followed by alemtuzumab administration. The patient then underwent a haplo-identical allogeneic hematopoietic stem cell transplantation and is well 8 months later. Children with GS2 indeed present with partial albinism, associated with hemophagocytic lymphohistiocytosis. RAB27A deficiency is responsible for a defective exocytosis of cytotoxic granules from T cells and natural killer cells, which may cause secondary immune overactivation leading to HLH. In the absence of treatment, the evolution is rapidly fatal. Although poorly codified, treatment consists in suppression of the triggering factor, control of HLH with chemotherapy or immunotherapy followed by an allo-HSCT.2 The pejorative evolution of this pathology makes its early recognition essential. Thus, children presenting with HLH must systematically benefit from a search for partial albinism. The presence of silver-gray hair makes necessary microscopic examination. The authors declare that they have no conflict of interest. ME and EC performed analyses. BLC, AH and CT treated the patient. BLC, MCB and ME wrote the manuscript.

How is family health history discussed in routine primary healthcare? A qualitative study of archived family doctor consultations

ObjectivesFamily health history underpins genetic medicine. Our study aimed to explore language and patterns of communication relating to family health history observed in interactions between general practitioners (GPs) and their...

Assessment of Association between Gas Flaring and Prevalence of Diseases: Delineation of Opinion from Perception

Background: Pollutants are released into the atmosphere by gas flaring, and these cause a range of health problems, including heart disease and respiratory disorders. This article assesses the opinion and perception of the community regarding association between gas flaring and prevalence of diseases.
 Methodology: This research followed a descriptive quantitative approach. Purposive survey using 2 Likert scale questionnaires was adopted, and the first questionnaire collected data on distance to gas flare site, health status and family health history, amongst others. The second collected data on perception and knowledge-based opinions regarding association and correlation. Summated Likert scale were collated and descriptive and correlation analysis between distance to gas flare site and number of diseases in respondents and their families were done.
 Results: In this purposive survey, there is no correlation between nearness to gas flare and prevalence of diseases. There appears no difference in communities proximal to flare sites compared to non-host communities farther from site. Multivariate analysis further shows that no statistically significant difference between groups, except in comparison of perceptions. Conclusion: This investigation shows a variation from previous observation in this series i.e. that distance to gas flare site is a potential factor influencing community members’ perception about their health impact, but the surveyed opinion of healthcare workers differs. This implies that nearness to gas flare sites mediate perception of negative health impact and this calls for further research to delineate perception from knowledge-based opinion.

Perceptions, Beliefs, and Experiences of Asians and Micronesian Islanders on Family Health History Genetic Cancer Screening Community Outreach.

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.

Evaluating Primary Care Providers’ Readiness for Delivering Genetic and Genomic Services to Underserved Populations

Introduction: Increased genomics knowledge and access are advancing precision medicine and care delivery. With the translation of precision medicine across health care, genetics and genomics will play a greater role in primary care services. Health disparities and inadequate representation of racial and ethnically diverse groups threaten equitable access for those historically underserved. Health provider awareness, knowledge, and perceived importance are important determinants of the utilization of genomic applications. Methods: We evaluated the readiness of primary care providers at a Federally Qualified Health Center, the Community Health Center, Inc. (CHCI) for delivering genetic and genomic testing to underserved populations. Online survey questions focused on providers’ education and training in basic and clinical genetics, familiarity with current genetic tests, and needs for incorporating genetics and genomics into their current practice. Results: Fifty of 77 (65%) primary care providers responded to the survey. Less than half received any training in basic or clinical genetics (40%), were familiar with specific genetic tests (36%), or felt confident with collecting family health history (44%), and 70% believed patients would benefit from genetic testing. Conclusion: Despite knowledge gaps, respondents recognized the value and need to bring these services to their patients, though would like more education on applying genetics and genomics into their practice, and more training about discussing risk factors associated with race or ethnicity. We provide further evidence of the need for educational resources and standardized guidelines for providers caring for underserved populations to optimize appropriate use and referral of genetic and genomic services and to reduce disparities in care.

Comparison of Environmental and Occupational Health in Gas Flare Host Communities and those Farther from Gas Flare Sites

Background: Gas flaring occurs during crude oil extraction and can have adverse implications for the community’ health and the environment. Reports show that residents complain about ill-health e.g. insomnia due to heat generated during gas flaring. This article therefore compares the impact on health in gas flaring host and non-gas flaring host communities.
 Methodology: This research followed a mixed method approach of quantitative and qualitative analysis. Six questions were asked on occupation, residence, distance from the gas flare, social status in community, health status and family health history. Two questions assessed health status as well as family health history of participants and were semi-qualitative. All questions were adopted from a previously published report. Comparison of environmental and occupational data between host and neighbouring communities was done.
 Outcome: Nearness of residence to gas flare sites show increased frequency in the number of ill health issues in respondents and their families. The impact of gas flaring i.e. ill health is high in those near to the site and diabetes is more prevalent amongst other ill-health conditions surveyed. Multiple comparisons show that the group farthest from gas flare site have significantly least proportion of members who are stressed or suffering respiratory problems.
 Conclusion: Impact on health or wellbeing among members of gas flaring host communities are more severe when compared to those far. Government policies need to mitigate the adverse effects of gas flaring and the community needs to be educated on the impacts of gas flaring and how this can be minimised.

Extending models via gradient boosting: An application to Mendelian models

Improving existing widely-adopted prediction models is often a more efficient and robust way toward progress than training new models from scratch. Existing models may: (a) incorporate complex mechanistic knowledge, (b) leverage proprietary information, and (c) have surmounted barriers to adoption. Compared to model training, model improvement and modification receive little attention. In this paper we propose a general approach to model improvement: we combine gradient boosting with any previously developed model to improve model performance while retaining important existing characteristics. To exemplify, we consider the context of Mendelian models which estimate the probability of carrying genetic mutations that confer susceptibility to disease by using family pedigrees and health histories of family members. Via simulations, we show that integration of gradient boosting with an existing Mendelian model can produce an improved model that outperforms both that model and the model built using gradient boosting alone. We illustrate the approach on genetic testing data from the USC–Stanford Cancer Genetics Hereditary Cancer Panel (HCP) study.

Family health history of gynecologic oncology patients: can we do better?

<h3>Objectives:</h3> Despite a growing understanding of familial cancer, multiple studies demonstrate that the quality of family health history (FHH) as currently collected in a clinic setting is inadequate to assess disease risk. Proposed challenges in FHH collection include lack of patient preparation, lack of FHH standardization, and time requirement (especially during the COVID-19 pandemic with intentional minimization of office time). Prior to implementation of a web-based application for FHH collection, we aimed to review the quality of collected FHH in a gynecologic oncology clinic and to determine if any patient factors affect FHH collection. <h3>Methods:</h3> This was a single institution retrospective study of FHH collection for new patient appointments at a gynecologic oncology outpatient practice between 4/2019-7/2019. FHH was collected verbally during the patient face-to-face interview. FHH was evaluated for the following, previously published, quality measures on a point system: 1) Three generations, 2) Relative gender, 3) Relative lineage (maternal vs paternal), 4) Pertinent negatives (absence of hereditary cancers), 5) Age of relatives' cancer diagnosis, and for deceased relatives, 6) Age of death and 7) Cause of death. <h3>Results:</h3> Among the 200 evaluable patients, 185 (92.5%) had FHH documented in the medical record. The median age was 52 years (range 23-93). Eighty-nine (44.5%) included three generations, 154 (77%) relatives' gender, 109 (54.5%) relatives' lineage, and 77 (38.5%) pertinent negatives (Figure 1). Among 147 patients reporting a history of cancer in their family, 23 (15.6%) included age of relatives' cancer diagnosis. Among 75 patients listing deceased relatives, 13 (17.3%) included age of death and 48 (64%) cause of death. Age and personal cancer diagnosis were not associated with quality of FHH. Patients with family history of cancer scored higher in quality of FHH than those without family history (median=3.0 [IQR 3.0; 4.0] vs. 1.0 [0.0; 2.0], <i>P</i><0.001) and were more likely to have inclusion of three generations (57.1% vs. 9.4%, <i>P</i><0.001). Forty-three patients (21.5%) had previously undergone genetic testing and these patients had higher FHH scores than those without prior genetic testing (3.0 [3.0; 4.0] vs. 3.0 [1.0; 4.0], P=0.01) and were more likely to include age of relatives' cancer diagnosis (27.0% vs. 11.0%, <i>P</i>=0.04), age of relatives' death (35.7% vs. 13.1%, P=0.04), and cause of relatives' death (92.3% vs. 58.1%, P=0.02). Overall, patients with higher quality FHH had increased likelihood of being referred to genetic assessment (4.0 [3.0; 4.75] vs. 3.0 [1.0; 4.0], P=0.002). <h3>Conclusions:</h3> Our data are consistent with the literature suggesting that standard collection of family history may not adequately capture all measures of a high quality oncologic FHH. Patients without prior genetic testing and no family history of cancer had the lowest scores for FHH quality and might benefit from a web-based FHH collection tool, allowing them to contact relatives for more information prior to an office visit and permitting better patient preparation and efficiency. In light of the COVID-19 pandemic, tools that minimize inoffice time are increasingly important. A prospective evaluation of a web-based FHH collection tool to address these issues is ongoing.

Web-based tool to assess breast cancer risk for women presenting to a gynecologic oncology visit

Objectives: Approximately 40,000 women die from breast cancer each year in the United States, highlighting the importance of identifying high-risk women prior to breast cancer development. Risk models exist, including the Tyrer-Cusick (TC) model but have not been widely implemented due to the time required to perform the risk assessment and interpret results. We aim to report our experience with a web-based application (WBA) to complete the TC model for women prior to a scheduled gynecologic oncology clinic visit. Methods: All patients scheduled for a gynecologic oncology new patient appointment between 9/2020-9/2021 were offered enrollment in an institutional review board-approved prospective trial. Patients were randomized to standard of care gynecologic oncology visit versus utilization of a WBA completed either at home or in the office prior to the appointment (randomized 1:1:1). The WBA collects personal and family health history and utilizes this information to generate a TC score. As part of the trial protocol, all women with a TC score reflecting a lifetime risk of breast cancer ≥ 20% were referred to the institution's high risk breast clinic which provides counseling on genetic testing, breast screening and breast cancer prevention. The WBA also generated additional information on personal and family cancer, the results of which are reported separately. Results: Sixty-six patients were randomized to utilization of the WBA which included completion of the TC model. Median patient age was 60 (range 22-88). Twenty-six patients (39.4%) did not complete the model for the following reasons: 13 (50%) were not able to access the application, 11 (42.3%) did not answer all required questions and 4 (15.4%) were ineligible due to prior breast cancer. Forty patients (60.6%) successfully completed the TC model and among those patients, 6 (15%) had a significantly elevated lifetime breast cancer risk score (defined as ≥ 20%), all of whom were referred to a high risk breast clinic. Conclusions: The COVID-19 pandemic has pressed the healthcare system to better utilize technology to provide safe and equitable medical care. A WBA for collection of personal and family health history and generation of cancer risk models completed prior to the physician appointment is an exciting application of such technology. When piloted in a gynecologic oncology practice, 60.6% of patients were able to complete the risk model and 15% of these patients were found to have a significantly elevated breast cancer risk warranting follow-up care.

Evaluation of Salivary Alpha-Amylase level in Iraqi children with positive family history of hypertension

This study accomplished to determine levels of salivary Alpha-Amylase (sAA) in Iraqi children with positive family history of hypertension, Hypertension was believed to be a risk factor in 18% of all deaths in 2010 (9.4 million globally). This study included one hundred children from primary school aged 6 to 13 years, with a focus in child welfare and family health history, with an emphasis on close relatives' hypertension reputations, with hypertension close relatives record categories identified by 1st and 2nd relatives, after documenting the full details, the burden was assessed for the children's families. The influence of age is confirmed by a correlation study of our own numbers, which shows a positive correlation. The disparity between age and salivary amylase level was important, with age group (12-13) years students having a higher mean salivary amylase level (309.7 U/L) than age group (6-7) years students (270.6 U/L). The gender outcome did not exceed statistical significance, but the gap was not important, which may be due to the limited sample size.

Leveraging health information technology to collect family cancer history: a systematic review and meta-analysis

<h3>Objectives:</h3> Collection of an accurate and comprehensive family cancer history (FCH) can help to identify millions of individuals at risk-for familial cancer syndromes. However, there are no formal guidelines for FCH collection and, as a result, there is wide variability in in strategies employed and accuracy of family health history across medical systems. Information technology (IT) provides a promising solution, a tool that has been shown to improve clinical documentation, workflows, quality of care, patient safety, communication and clinical decision support, and that can be completed remotely and safely during a pandemic. The aim of this study is to evaluate the literature on existing strategies whereby medical providers utilize information technology (IT) to assemble FCH. <h3>Methods:</h3> A systematic search of online databases (PubMed, EMBASE, MEDLINE, and the Cochrane Library) between 1980 and 2020 was performed. Meta-analysis was used to estimate pooled results across studies. Statistical heterogeneity was assessed through the chi-square test (i.e., Cochrane Q test) and the inconsistency statistic (I2). A random effects analysis was used to calculate the pooled proportions and means. <h3>Results:</h3> The comprehensive search produced 4005 publications. Thirty-two peer-reviewed studies met inclusion criteria. Twenty-seven distinct IT tools were evaluated which included the following categories: electronic survey administered prior to visit (21, 65.6%), electronic survey administered via tablet in the medical office (6, 18.8%), electronic survey via kiosk (4, 12.5%) and animated virtual counselor (1, 3.1%). Among the 196,566 included patients, 87.0% completed the FCH tool (electronic survey prior to the visit - 85.0 %; electronic survey in the medical office - 89.0 %). The time required for survey completion was 35.2 minutes (CI 14.3 -56.2). Twelve percent of patients (n=11,093) were referred for genetic assessment based on the output of the FCH tool. Among the studied methods of FCH collection, 7 (21.9%) had the capacity to interface directly with the patient's electronic medical record. <h3>Conclusions:</h3> The rapidly advancing field of germline cancer genetics coupled with a growing emphasis on disease prevention and incorporation of technology into medical care algorithms prior to and accelerated by the COVID-19 pandemic make utilization of IT strategies for collection of FCH a promising option. Our systematic review and meta-analysis found that electronic FCH collection can be completed successfully by patients in a time efficient manner. This information may be useful as many healthcare systems continue to restructure the way in which patients interact with their healthcare teams.

The Role of Family Health History in Predicting Midlife Chronic Disease Outcomes

The generational relevance for determining disease risk for the leading causes of morbidity and mortality for U.S. adults is a source of debate. Data on 12,300 adults (Add Health Study Members) participating in Wave V (2016-2018) of the National Longitudinal Study of Adolescent to Adult Health (also known as Add Health) were merged with data from respondents' parents (n=2,013) participating in the Add Health Parent Study (2015-2017). Analyses beginning in January 2020 examined the concordance in lifetime occurrence of chronic conditions across 4 generations, including cardiovascular disease, diabetes, hypertension, hyperlipidemia, obesity, cancer, and depression and examined the associations between individual disease history and ones' family health history for the same condition. Mean ages were 37.4 years for Add Health Study Members and 62.9 years for Add Health Parent Study mothers. The histories of mothers from the Add Health Parent Study on hyperlipidemia (AOR=1.61, 95% CI=1.04, 2.48), obesity (AOR=1.77, 95% CI=1.27, 2.48), and depression (AOR=1.87, 95% CI=1.19, 2.95) were significantly associated with increased odds of Add Health Study Member report of these conditions. Maternal great grandparent hyperlipidemia history was significantly associated with the Add Health Study Member hyperlipidemia (AOR=2.81, 95% CI=1.51, 5.21). Histories of diabetes in maternal grandfather (AOR=2.41, 95% CI=1.24, 4.69) and maternal great grandparent (AOR=3.05, 95% CI=1.45, 6.43) were significantly associated with Add Health Study Member diabetes. Each additional point in the Add Health Parent Study mothers' cardiometabolic risk factor index was associated with an 11% increase (incidence rate ratio=1.11, 95% CI=1.04, 1.19) in the expected count of cardiometabolic risk conditions for the Add Health Study Members. Multigenerational health histories have value for quantifying the probability of diabetes, obesity, depression, and hyperlipidemia in early mid-adulthood. Family health history knowledge is relevant for health promotion and disease prevention strategies.

The business cycle, health behavior, and chronic disease: A study over Three decades

The effect of macroeconomic fluctuations on individual health remains highly debated. We estimate the effect of the business cycle on health and health behavior in the U.S. using the NLSY79 panel data for 11,406 respondents between 1979 and 2014. Most of our survey respondents have no chronic illness in 1979, and develop these conditions during the sample period. This allows us to estimate the true effect of economic fluctuation on the likelihood of developing chronic conditions. The results indicate a considerable difference in the cyclic variation of chronic diseases. After controlling for innate individual characteristics such as family health history, and unobserved regional characteristics, we find that obesity decreases during economic downturns, while diabetes, hypertension, and congestive heart failure increase. Sub-sample analyses show that Blacks are more likely to develop diabetes and hypertension and are less likely to develop obesity during economic downturns than other racial groups. The incidence of obesity declines during recessions for women, while males are more likely to develop diabetes. Income loss, particularly among Blacks, and lack of change in physical activity mediate these differential effects.

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

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

Modernizing family health history: achievable strategies to reduce implementation gaps.

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.

Early life triggers for food allergy that in turn impacts dietary habits in childhood.

In order to investigate food allergy's prevalence, risk factors and eating behavior of children with relevant anamnesis, a study was performed in Cypriot primary schools. A specially composed questionnaire for self-reported adverse reactions to food, created in the context of the EuroPrevall study, was distributed in 13 representative primary schools across the country. Participants were sub-grouped into three groups; healthy (H), those with unconfirmed food hypersensitivity reactions (FA-) and children with a confirmed diagnosis by a physician IgE-mediated food allergy (FA+). Food habits, family health history and lifestyle factors were assessed and groups' outcomes were compared with each other. For the study, 202 questionnaires were completed and returned; 31 children (19 FA- and 12 FA+) reported an adverse food reaction. Significant risk factors for developing FA+ were being the first born or having siblings with asthma, attended a day nursery, but also maternal alcohol drinking during pregnancy, parental smoking and parental occupation in food processing or use of latex gloves. The presence of children in the kitchen during cooking showed a protective role. Dietary habits of FA+ children were significantly diminished in terms of variety and frequency of consumption in comparison to the rest, in which had a greater overlap. Further research is required for the interesting risk or protective factors revealing from the current investigation. The negative effect of food allergy in the dietary habits of food allergic children documented in the literature, is strongly supported herein.

Adaptation and early implementation of the PREdiction model for gene mutations (PREMM5\u2122) for lynch syndrome risk assessment in a diverse population

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

Clinical implementation of an oncology\u2010specific family health history risk assessment tool

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

Utility of a virtual counselor (VICKY) to collect family health histories among vulnerable patient populations: A randomized controlled trial

ObjectivesThis 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). MethodsA 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. ResultsTool 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. ConclusionsA 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 implicationsThe usability of digital health history tools will have important implications for the quality of the data collected and its downstream clinical utility.

Interactions among Actual Uncertainty, Desired Uncertainty, and Uncertainty Discrepancy on Anxiety and Information Seeking

This study investigated the role of uncertainty in information management processes by integrating insights from uncertainty management theory and the theory of motivated information management. Specifically, we examined the extent to which uncertainty appraisals moderated the effects of uncertainty on anxiety and information seeking about family health history (FHH) from spouses. Data from 626 married individuals suggested that desired uncertainty moderated uncertainty’s effect on anxiety such that uncertainty led to more anxiety when individuals wanted to be more certain. Uncertainty also exerted stronger effects on anxiety and information seeking when one’s actual uncertainty was low. Efficacy remained a predictor of information seeking, consistent with the literature. Findings offer theoretical implications about the interaction effects among different conceptualizations of uncertainty (i.e., actual, desired, and uncertainty discrepancy) and practical applications for encouraging information seeking about FHH.