Family History Collection Research Articles

Perceived provider barriers to collecting and documenting a complete family history in a statewide oncology consortium.

221 Background: A complete family history is essential in identifying patients who may benefit from genetic evaluation for hereditary cancer syndromes. Fewer than 40% of patients with cancer have a complete family history documented in their medical record. As part of a larger study of patient- and provider-focused interventions for increasing genetic testing, we conducted a survey of provider barriers to collecting and documenting a complete family history in a statewide, physician-led quality consortium of nearly all medical and gynecologic oncologists in Michigan. Methods: A novel survey instrument was created by adapting existing literature and clinician input. Surveys were mailed to medical and gynecologic oncologists with follow up electronic surveys sent to non-respondents. Questions addressed patient-specific barriers as well as known constraints faced by oncologists. Each barrier was rated from low to high using a 10-point Likert scale. Descriptive statistics, including mean scores and standard deviations (SD), were calculated. Results: Of 317 surveys sent, 194 (61.2%) were returned. Oncologists rated constraints on their time lower than lack of patient knowledge and understanding of their family history and its importance as a barrier. Open-ended responses indicated that the processes of collecting a family history (e.g. templates for collecting family history that omit age at diagnosis) and patients being overwhelmed at the time of consultation also interfered with collecting a complete family history. Conclusions: Oncologists perceive patient knowledge of their family history, including the ages of affected family members, and understanding of its importance as barriers to completion and documentation of a family history. Explaining the importance of the family history to patients, prompting new patients to provide their family history, and improving the process, including the timing of collection, may increase the proportion of oncology patients who have a complete family history collected and documented.[Table: see text]

THE EFFECTIVENESS OF AN ACTIVITY-BASED APPROACH TO TEACHING THE PAST TENSE IN MEDICAL ENGLISH FOR PROFESSIONAL PURPOSES

The present paper explores the methods for effective mastering the past tense relying on an activity-based approach following the Common European Framework of Reference for Languages. The aim of the research is to facilitate the teaching and revising the grammar material on the past simple (indefinite) tense, the past continuous (progressive) tense, and the past perfect tense in the process of training undergraduates, Ph.D. students, academic and clinical teachers at a medical university. The results of the research have been integrated into the 1st edition of “Medical English for Academic Purposes” (2018) and “Medical English for Public Health Purposes” (2021). The authors developed the methodological mechanisms to support courses in professional English at higher medical educational institutions through an activity-based approach, which ensures the effective acquisition of a foreign language, promotes the formation of a linguistic personality capable not only of communicating in all areas, but also of successful integration into the international community. The paper provides a wide range of scaffolding activities and methods: using visuals (graphic organizers, charts, etc.), selecting historically meaningful texts, peer-to-peer talk, strategic pairings, “real-life tasks” and modelling situations, the “fishbowl” model and others. The suggested methodological algorithm is feasible for both oral and written communication, reading and listening comprehension activities, group work, individual and self-directed work in class, as well as for in-class or self-paced learning, depending on the features of the curriculum and students’ English proficiency. The receptive aspect of teaching is represented by read-and-translate exercises, targeted texts describing significant events in the history of medicine, as well as true-false exercises to check students’ comprehension. Meanwhile, the reproductive aspect of teaching covers exercises involving opening the brackets, filling the blanks, as well as creating negative and interrogative forms of verbs. Eventually, the productive aspect of teaching is ensured by a wide range of creative speaking and writing activities and “real-life tasks”, aimed at developing students’ communicative competence in English for Professional Purposes (in-class speaking activities (peer-to-peer talk, class discussion). In addition, collecting family history is yet another pragmatically feasible task to revise and study past tenses. The application of an activity-based approach to teaching the past tenses at a medical university is highly effective to foster essential job-related skills, experience and professional readiness. The authors believe that this, in turn, will promote academic mobility and scientific cooperation, thus contributing to the development of higher medical education in Ukraine, which renders the research relevant.

Recommendations for a More Organized and Effective Approach to the Early Detection of Pancreatic Cancer From the PRECEDE (Pancreatic Cancer Early Detection) Consortium

Recommendations for a More Organized and Effective Approach to the Early Detection of Pancreatic Cancer From the PRECEDE (Pancreatic Cancer Early Detection) Consortium

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.

Measuring the impact and sustainability of a statewide program for identifying minority and underserved clients at risk for hereditary breast and ovarian cancer (HBOC): An eight-year follow up including transitions during the COVID pandemic.

e18546 Background: The Georgia Breast Cancer Genomics Program was created with 2011-2014 funding from the Centers for Disease Control and Prevention and the Georgia Department of Public Health (GDPH). In collaboration with GDPH and the Georgia Center for Oncology Research and Education (Georgia CORE), the goal of the program has been to reduce disparities among high-risk minority and underserved women. The objective of this study is to report the 8-year surveillance data for women at increased risk for HBOC in statewide public health centers. The effect of the COVID pandemic on the program and sustainability is also reported. Methods: From 11/1/2012-12/31/2020, the program provided education, outreach and collected surveillance data using an online genetics referral screening tool as recommended by USPSTF. Providers in 159 counties and health centers across Georgia were educated in cancer family history collection and appropriate referral to genetics. When an individual was found to be at high risk, she was referred to the Georgia CORE Genetics Advanced Practice Nurse for additional education, genetic testing and follow-up. Results: Online screenings attributable to GDPH totaled 29,087 with 1,656 positive screens. 28 % of clients were less than 25 years of age and 56 % ranged from 25-54. Race: 33 % white, 41 % black, 15 % Hispanic and 11 % other or N/A. 92 % of referrals were uninsured. Genetic testing was started or completed on 430 clients. 36 individuals declined testing after counseling (reconsideration, insurance, unknown reasons) and were provided with contact information. 47 (11%) pathogenic, clinically significant mutations were identified including 37 (79 %) HBOC related mutations and 10 (21 %) Lynch related mutations. Variants of uncertain significance were identified in 90 (21 %) clients, with multiple variants in 40 of those. 27 clients have been served through GDPH for physician consultation and surveillance. 13 were referred to area resources: one diagnosed with cancer, and 7 chose referral to other health care providers. Because of the pandemic, the program transitioned to telecommunications and remote access to testing in 5/2020. From 5/2020-12/2020, 34 clients completed testing (41% minority, all uninsured). 10 (29%) clinically significant mutations were identified and heightened surveillance initiated. Conclusions: The GDPH and Georgia CORE collaborative genomics program has served clients over the past 8 years, adjusting to changing resources while reaching a significant number of minority and underserved women. The program successfully converted to remote services during the COVID pandemic. Lessons learned from this transition have been incorporated into planning for future program sustainability.

Construction and practice of cancer genetic clinic

To explore the effect and precautions of setting up a genetic clinic for hereditary colorectal cancers. To collect the information of the patients who received genetic screening and genetic counseling at our hospital from January 2016 to June 2018, and analyze the role of family history collection and follow-up management. The detection rate of family history of tumors has increased by 13.6%. Follow up management was carried out in 156 families with hereditary colorectal cancer confirmed by detection of germline mutations. Five cases of early colorectal cancers and 12 cases of adenomatous polyps were detected and treated. To set up genetic clinic is helpful to standardize the management of high-risk population, and attention should be paid to the role of family history collection and follow-up management.

Family history assessment significantly enhances delivery of precision medicine in the genomics era

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

A review and definition of 'usual care' in genetic counseling trials to standardize use in research.

The descriptor 'usual care' refers to standard or routine care. Yet, no formal definition exists. The need to define what constitutes usual care arises in clinical research. Often one arm in a trial represents usual care in comparison with a novel intervention. Accordingly, usual care in genetic counseling research appears predominantly in randomized controlled trials. Recent standards for reporting genetic counseling research call for standardization, but do not address usual care. We (1) inventoried all seven studies in the Clinical Sequencing Evidence-Generating Consortium (CSER) about how genetic counseling was conceptualized, conducted, and whether a usual care arm was involved; (2) conducted a review of published randomized control trials in genetic counseling, comparing how researchers describe usual care groups; and (3) reviewed existing professionally endorsed definitions and practice descriptions of genetic counseling. We found wide variation in the content and delivery of usual care. Descriptions frequently detailed the content of usual care, most often noting assessment of genetic risk factors, collecting family histories, and offering testing. A minority included addressing psychological concerns or the risks versus benefits of testing. Descriptions of how care was delivered were vague except for mode and type of clinician, which varied. This significant variation, beyond differences expected among subspecialties, reduces the validity and generalizability of genetic counseling research. Ideally, research reflects clinical practice so that evidence generated can be used to improve clinical outcomes. To address this objective, we propose a definition of usual care in genetic counseling research that merges common elements from the National Society of Genetic Counselors' practice definition, the Reciprocal Engagement Model, and the Accreditation Council for Genetic Counselors' practice-based competencies. Promoting consistent execution of usual care in the design of genetic counseling trials can lead to more consistency in representing clinical care and facilitate the generation of evidence to improve it.

Introducing Edna: A trainee chatbot designed to support communication about additional (secondary) genomic findings

ObjectiveTo support informed decision-making about reanalysis of clinical genomic data for risk of preventable conditions (‘additional findings’) by developing a chatbot (electronic genetic resource, ‘eDNA’). MethodsInteractions in pre-test genetic counseling sessions (13.5 h) about additional findings were characterized using proponent, thematic and semantic analyses of transcripts. We then wrote interfaces to draw supplementary data from external genetics applications. To create Edna, this content was programmed using a chatbot framework which interacts with patients via speech-to-text. ResultsConditions, terms, explanations of concepts, and key factors to consider in decision making were all encoded into chatbot conversations emulating counseling session flows. Patient agency can be enhanced by prompted consideration of the personal and familial implications of testing. Similarly, health literacy can be broadened through explanation of genetic conditions and terminology. Novel aspects include sentiment analysis and collection of family history. Medical advice and the impact of existing genetic conditions were deemed inappropriate for inclusion. ConclusionEdna’s successful development represents a movement towards accessible, acceptable and well-supported digital health processes for patients to make informed decisions for additional findings. Practice implicationsEdna complements genetic counseling by collecting and providing genomic information before or after pre-test consultations.

An action plan to address the rising burden of colorectal cancer in younger adults

Aim: The National Colorectal Cancer Roundtable convened a national Summit to discuss the causes of early-onset colorectal cancer and clinical challenges to mitigating burden of this disease. Materials &amp; methods: Information presented was synthesized through scientific consensus building to determine priorities for new research and practice change. Results: Research priorities include evaluating role of novel risk factors, understanding natural history and identifying ways to implement evidenced-based practices for identifying and managing at-risk persons. Practice change should focus on adoption of guidelines for collecting family history, screening in young adults at risk, provider and population awareness about risk and symptoms, and universal tumor testing. Conclusion: Successful implementation of strategies to address research and practice change will require collaboration from multiple partners.

Parental attitudes regarding the need for genetic services in a pediatric brain tumor survivorship program

Pediatric brain tumor survivorship populations have not been typically offered genetic services as part of routine care. Genetic services can be defined as family history collection, genetic risk assessment for a patient and family members, and coordination of genetic testing. Prior research has focused on the integration of genetic services in the general pediatric oncology survivorship population and found a need for these services to be implemented. Gathering a family history and providing a genetic risk assessment have previously been determined to be an integral step in determining if an individual's cancer was due to a hereditary predisposition. The purpose of this study was to examine parental attitudes regarding the need for genetic services in their child's pediatric brain tumor survivorship clinic. Twelve semi-structured interviews were conducted with parents participating in the Brain STAR (Survivors Taking Action and Responsibility) program at Ann and Robert H. Lurie Children's Hospital of Chicago. A grounded theory approach was used to code and analyze the results thematically. Five key themes were identified: participants' perceived benefits and barriers regarding receiving genetic services, desirable time for implementation of these services, relevance of family history, and their thoughts regarding reproductive risk. These results provide insight for genetics professionals regarding the need for genetic services in this population, and how to best implement them.

Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes

Disclosing secondary findings (SF) from genome sequencing (GS) can alert carriers to disease risk. However, evidence around variant-disease association and consequences of disclosure for individuals and healthcare services is limited. We report on the feasibility of an approach to identification of SF in inherited cardiac conditions (ICC) genes in participants in a rare disease GS study, followed by targeted clinical evaluation. Qualitative methods were used to explore behavioural and psychosocial consequences of disclosure. ICC genes were analysed in genome sequence data from 7203 research participants; a two-stage approach was used to recruit genotype-blind variant carriers and matched controls. Cardiac-focused medical and family history collection and genetic counselling were followed by standard clinical tests, blinded to genotype. Pathogenic ICC variants were identified in 0.61% of individuals; 20 were eligible for the present study. Four variant carriers and seven non-carrier controls participated. One variant carrier had a family history of ICC and was clinically affected; a second was clinically unaffected and had no relevant family history. One variant, in two unrelated participants, was subsequently reclassified as being of uncertain significance. Analysis of qualitative data highlights participant satisfaction with approach, willingness to follow clinical recommendations, but variable outcomes of relatives’ engagement with healthcare services. In conclusion, when offered access to SF, many people choose not to pursue them. For others, disclosure of ICC SF in a specialist setting is valued and of likely clinical utility, and can be expected to identify individuals with, and without a phenotype.

Is family history still underutilised? Exploring the views and experiences of primary care doctors in Malaysia.

Family history has long been recognised as a non-invasive and inexpensive tool to identify individuals at risk of genetic conditions. Even in the era of evolving genetic and genomic technology, the role of family history in predicting individual risk for genetic testing and guiding in preventive interventions is still relevant, especially in low-resource countries. The aim of this study was to explore primary care doctors' views and experiences in family history taking and how they utilised family history in day-to-day clinical consultations in Malaysia. Four focus group discussions and six in-depth interviews involving 25 primary care doctors were conducted. Three themes emerged from the analysis: (1) primary care doctors considered family history as an important part of clinical assessment, (2) proactive versus reactive approach in collecting family history and (3) family history collection was variable and challenging. Family history was documented in either free text or pedigree depending on the perception of its appropriateness during the consultation. This study highlighted the need to improve the approach, documentation and the implementation of family history in the Malaysian primary care settings. Integrating family filing concept with built-in clinical decision support into electronic medical records is a potential solution in ensuring effective family history taking in primary care.

Family history of cardiovascular disease and risk of premature coronary heart disease: A matched case-control study.

Background: Self-reported family history of cardiovascular disease (CVD) is an independent risk factor for future coronary heart disease (CHD) events. However, inclusion of family history of CVD in the traditional risk scores failed to improve risk prediction of CHD. It is proposed that family history of CVD may substantially increase the risk of CHD among younger individuals. Methods: We conducted a matched case-control study with 170 hospital-based premature CHD patients (<55 years in men and <65 years in women) from a tertiary care centre in Thiruvananthapuram, Kerala and age and sex matched community-based controls in 1:1 ratio. Conditional logistic regression analysis was conducted to assess the independent association of family history of cardiovascular disease (CVD) and premature CHD. We estimated McNemar's odds ratios and their 95 percent confidence intervals. Results: The prevalence of any family history of CVD and CHD in the control population was 24% and 21%, respectively. The family history of CVD was independently associated with premature CHD (odds ratio (OR) = 9.0; 95% confidence interval (CI) 4.7-17.3). There was a dose-response relationship between family history and premature CHD as the risk increased linearly with increase in number of affected family members. Conclusions: Family history of CVD is an independent risk factor for premature CHD. The risk of premature CHD increases linearly with increase in number of affected family members. Collecting family history beyond parental history of CVD is important for risk stratification. Targeting young individuals with family history of CVD for intensive risk reduction interventions may help to prevent future events.

Family history of cardiovascular disease and risk of premature coronary heart disease: A matched case-control study

Background: Self-reported family history of cardiovascular disease (CVD) is an independent risk factor for future coronary heart disease (CHD) events. However, inclusion of family history of CVD in the traditional risk scores failed to improve risk prediction of CHD. It is proposed that family history of CVD may substantially increase the risk of CHD among younger individuals. Methods: We conducted a matched case-control study with 170 hospital-based premature CHD patients (<55 years in men and <65 years in women) from a tertiary care centre in Thiruvananthapuram, Kerala and age and sex matched community-based controls in 1:1 ratio. Conditional logistic regression analysis was conducted to assess the independent association of family history of cardiovascular disease (CVD) and premature CHD. We estimated McNemar's odds ratios and their 95 percent confidence intervals. Results: The prevalence of any family history of CVD and CHD in the control population was 24% and 21%, respectively. The family history of CVD was independently associated with premature CHD (odds ratio (OR) = 9.0; 95% confidence interval (CI) 4.7–17.3). There was a dose-response relationship between family history and premature CHD as the risk increased linearly with increase in number of affected family members. Conclusions: Family history of CVD is an independent risk factor for premature CHD. The risk of premature CHD increases linearly with increase in number of affected family members. Collecting family history beyond parental history of CVD is important for risk stratification. Targeting young individuals with family history of CVD for intensive risk reduction interventions may help to prevent future events.

Utilization of health information technology among cancer genetic counselors.

BackgroundHealth information technology (IT) is becoming increasingly utilized by cancer genetic counselors (CGCs). We sought to understand the current engagement, satisfaction, and opportunities to adopt new health IT tools among CGCs.MethodsWe conducted a mixed‐mode survey among 128 board‐certified CGCs using both closed‐ and open‐ended questions. We then evaluated the utilization and satisfaction among 10 types of health IT tools, including the following: cancer screening tool, family health history (FHx) collection tools, electronic health records (EHRs), telegenetics software, pedigree drawing software, genetic risk assessment tools, gene test panel ordering tools, electronic patient education tools, patient communication tools, and family communication tools.ResultsSeven of 10 health IT tools were used by a minority of CGCs. The vast majority of respondents reported using EHRs (95.2%) and genetic risk assessment tools (88.6%). Genetic test panel ordering software had the highest satisfaction rate (very satisfied and satisfied) at 80.0%, followed by genetic risk assessment tools (77.1%). EHRs had the highest dissatisfaction rate among CGCs at 18.3%. Dissatisfaction with a health IT tool was associated with desire to change: EHRs (p < .001), cancer screening tools (p = .010), genetic risk assessment tools (p = .024), and family history collection tools (p = .026). We found that nearly half of CGCs were considering adopting or changing their FHx tool (49.2%), cancer screening tool (44.9%), and pedigree drawing tool (41.8%).ConclusionOverall, CGCs reported high levels of satisfaction among commonly used health IT tools. Tools that enable the collection of FHx, cancer screening tools, and pedigree drawing software represent the greatest opportunities for research and development.

Clinical presentation and need for treatment of a cohort of subjects accessing to a mental illness prevention service.

Outreaching activities decrease prognostic accuracy of at-risk mental state defining tools, over-attracting subjects who are not at increased risk of mental illness. The setting was a mental illness primary indicated prevention outpatients service embedded within the Psychiatry Unit of Padua University Hospital, Italy. Help-seeking patients accessing the service between January 2018 and December 2018 were evaluated with validated tools assessing functioning, at-risk mental state, schizotypal personality features, depressive and anxious symptoms, together with medical and family history collection. The primary outcome was the prevalence of drop in functioning at presentation according to the Social and Occupational Functioning Assessment Scale (SOFAS). Secondary outcomes were diagnoses according to DSM-5 criteria and meeting criteria for at-risk mental state. Fifty-nine patients accessed the service, mean age was 18.8 (2.12) years old, 54.2% were females. Virtually all subjects (97.7%) had a drop in functioning. Baseline primary diagnoses were depressive episode in 33%, anxiety disorder in 21%, personality disorder in 17%, adjustment disorder 9%, conduct disorder 7%, schizophrenia spectrum disorder 5%, bipolar disorder 5%, eating disorder in 1.7%, dissociative disorder 1.7%. Overall, 59.1% met at-risk mental state criteria. Lower functioning was associated with anxious symptoms (p=0.031), a family history of mental illness (p=0.045) and of suicide (p=0.042), and schizotypal personality traits (p=0.036). Subjects accessing a prevention service embedded within the mental health department already present a trans-diagnostic drop in functioning, mainly due to a non-psychotic mental disorder, with at-risk mental state in one patient out of two, and schizophrenia or bipolar disorder already present in only 10% of subjects. Prevention service within mental health facility setting appears to properly detect subjects in need of treatment with a drop in functioning, at risk of developing severe mental illness, without any outreaching activity in the general population.

Test of an online tool to facilitate NCCN guideline-compliant access to cancer genetics care.

1542 Background: Minority populations experience inequities of access to cancer genetics. We developed and tested an online family history collection and interpretation tool, InheRET, to determine acceptability, validity and utility.Patients are mostly unable to recall accurate family history in clinic and providers have little time to collect the 3-generation pedigree. Thus, ~90% of high risk patients remain unidentified. We evaluated the impact InheRET has on facilitating National Comprehensive Cancer Network (NCCN) Guideline-compliant referrals for cancer genetic counseling. Methods: Patients from 3 clinics were consented online to participate. A user experience survey for patients and providers followed the health history questionnaire. Results: 628 patients were consented over a year, 555 (&gt;88%) completed the tool. 439 (79%) completed the post-questionnaire user experience. Review of Inheret's recommendations by a genetic counselor found 100% accuracy. Ease of Use: 84-87% of patients reported tool was easy to use. Understandability: 92-97% of patients reported tool was easy to understand. No significant differences were reported between those with high school (n=28, avg age 50.1 yrs) compared to those with advanced degrees (n=139, avg age 45.4 yrs); patients age 70+ experienced increased difficulties. Among primary care patients (n=135), 43 established patients were newly identified as meeting NCCN referral criteria. Healthcare providers found InheRET useful, did not require extra clinical time, and all wish to continue to use it. The patient provided data were more complete and encompassed more family members than with paper forms. Turn-around-times to receive the patient’s information were decreased from 4-6 weeks to ~ 72 hours. A patient scheduling backlog of 400 patients was cleared using InheRET. Previously, 40% of cancer genetics patients were lost to follow up, due to not completing their intake forms. This number was reduced to 6.5%. Conclusions: Patients find InheRET to be easy to use and understand and they complete this health history tool more frequently and in greater detail than by paper forms. InheRET provides accurate results, verified by in person interviews, in a timely fashion, saving clinical time, possibly enabling increase in earned clinical revenues (under analysis), and improving patient care overall. Importantly, the 43 primary care patients identified to be at increased risk were already established patients, who had not been previously identified as such by their healthcare providers as being at increased risk.

Use of telephone intake for family history taking at a cancer genetics service in Asia.

Family history taking is a fundamental part of genetic counseling, and however, it is also a time-consuming process. To cope with the increasing demands at the Cancer Genetics Service in Singapore, alternative methods to collect patients' family history were implemented to reduce the duration of the initial consultation and increase the clinic's capacity. Two interventions were performed in this study, where a family history questionnaire and telephone intakes (telephone calls to collect patient family history) were implemented prior to a cancer genetics consultation. The primary outcome of this study is the duration of the initial consultation in relation to both interventions while the secondary outcome is the clinic attendance rate before and after implementing the telephone intake. The impact of interventions was evaluated with a Plan-Do-Study-Act (PDSA) methodology. The use of a family history questionnaire could not be evaluated due to poor patient response while the telephone intake was found to be feasible among the local population. Two improvements were observed after the implementation of telephone intake: (a) a significant reduction in the duration of the initial consultation from 60 to 45min (p=.001) and (b) a significant increase of 29.7% in clinic attendance (p=.01). This study demonstrates that collecting family history information ahead of genetic counseling via telephone intake is a useful measure in improving clinic capacity, which potentially resulting in optimization of clinical resources.

Heritable and non-heritable uncommon causes of stroke.

Despite intensive investigations, about 30% of stroke cases remains of undetermined origin. After exclusion of common causes of stroke, there is a number of rare heritable and non-heritable conditions, which often remain misdiagnosed, that should be additionally considered in the diagnosis of cryptogenic stroke. The identification of these diseases requires a complex work up including detailed clinical evaluation for the detection of systemic symptoms and signs, an adequate neuroimaging assessment and a careful family history collection. The task becomes more complicated by phenotype heterogeneity since stroke could be the primary or unique manifestation of a syndrome or represent just a manifestation (sometimes minor) of a multisystem disorder. The aim of this review paper is to provide clinicians with an update on clinical and neuroradiological features and a set of practical suggestions for the diagnostic work up and management of these uncommon causes ofstroke. The identification of these stroke causes is important to avoid inappropriate and expensive diagnostic tests, to establish appropriate management measures, including presymptomatic testing, genetic counseling, and, if available, therapy. Therefore, physicians should become familiar with these diseases to provide future risk assessment and family counseling.