Genetics Education Research Articles

A Community Health Worker Model to Support Hereditary Cancer Risk Assessment and Genetic Testing.

To evaluate the effects of a community health worker-supported hereditary cancer risk-assessment and genetic testing program in a safety-net hospital serving more than 70% medically underserved patients. This community health worker pilot program began in January 2020 at women's health clinics by administering original National Comprehensive Cancer Network (NCCN)-based questionnaires. Patients meeting high-risk criteria were offered video-based genetic education and testing, notified of results using telehealth, and offered indicated counseling. We compared the rate of genetic counseling and testing in the first 18 months of the pilot program with that in the prior 18 months. In the first 18 months of the pilot program, 940 patients were screened through the community health worker program: 196 were identified as high-risk, 103 patients were tested, and pathogenic variants were identified in 10 (9.7%), two of whom had a personal cancer history. In addition, 73 patients were tested per usual practice by a certified genetic counselor: pathogenic variants were identified in 16 (21.9%), 11 (68.8%) of whom had a personal cancer history. In the 18 months before the program, 68 patients underwent genetic testing with a certified genetic counselor, pathogenic variants were identified in 16 (23.5%), 13 (81.3%) of whom had a personal cancer history. The community health worker program led to a significant increase in testing among unaffected patients based on family history alone (odds ratio [OR] 7.0; 95% CI 3.7-13.2; P <.001), paralleled by a respective significant increase in the identification of pathogenic variants (OR 4.33; 95% CI 1.0-18.9; P =.051). This pilot program demonstrates the feasibility of a community health worker-supported program, using self-administered questionnaires and telehealth-based genetic services in a primarily medically underserved population. This program improved the detection of unaffected high-risk patients based on family history, increasing the volume of tests performed for this indication. Programs of this type may improve family history-based hereditary cancer testing in medically underserved patients, further enabling cancer-prevention strategies.

User and Usability Testing of a Web-Based Genetics Education Tool for Parkinson Disease: Mixed Methods Study.

Genetic testing is essential to identify research participants for clinical trials enrolling people with Parkinson disease (PD) carrying a variant in the glucocerebrosidase (GBA) or leucine-rich repeat kinase 2 (LRRK2) genes. The limited availability of professionals trained in neurogenetics or genetic counseling is a major barrier to increased testing. Telehealth solutions to increase access to genetics education can help address issues around counselor availability and offer options to patients and family members. As an alternative to pretest genetic counseling, we developed a web-based genetics education tool focused on GBA and LRRK2 testing for PD called the Interactive Multimedia Approach to Genetic Counseling to Inform and Educate in Parkinson's Disease (IMAGINE-PD) and conducted user testing and usability testing. The objective was to conduct user and usability testing to obtain stakeholder feedback to improve IMAGINE-PD. Genetic counselors and PD and neurogenetics subject matter experts developed content for IMAGINE-PD specifically focused on GBA and LRRK2 genetic testing. Structured interviews were conducted with 11 movement disorder specialists and 13 patients with PD to evaluate the content of IMAGINE-PD in user testing and with 12 patients with PD to evaluate the usability of a high-fidelity prototype according to the US Department of Health and Human Services Research-Based Web Design & Usability Guidelines. Qualitative data analysis informed changes to create a final version of IMAGINE-PD. Qualitative data were reviewed by 3 evaluators. Themes were identified from feedback data of movement disorder specialists and patients with PD in user testing in 3 areas: content such as the topics covered, function such as website navigation, and appearance such as pictures and colors. Similarly, qualitative analysis of usability testing feedback identified additional themes in these 3 areas. Key points of feedback were determined by consensus among reviewers considering the importance of the comment and the frequency of similar comments. Refinements were made to IMAGINE-PD based on consensus recommendations by evaluators within each theme at both user testing and usability testing phases to create a final version of IMAGINE-PD. User testing for content review and usability testing have informed refinements to IMAGINE-PD to develop this focused, genetics education tool for GBA and LRRK2 testing. Comparison of this stakeholder-informed intervention to standard telegenetic counseling approaches is ongoing.

The effect of a prior e-learning tool on genetic counseling outcomes in diverse ethnic couples with abnormal Down syndrome screening tests: A randomized controlled trial.

Genetic counseling (GC) following abnormal Down syndrome (DS) screening tests aims to ensure learning of complex medical concepts and discussion of counselees' personal desires. Pre-GC use of electronic learning tools (e-learning tools) can facilitate GC sessions by allowing more time for dialogue rather than learning medical and genetic concepts, enabling greater focus on the counselee's decisional, psychological, and personal needs. Few studies have investigated such tools for DS screening tests and those who have focused on screening uptake rather than abnormal results and implications. This study evaluated prenatal GC outcomes following implementation of an e-learning tool utilizing an educational animated movie for couples of varied ethnic backgrounds in northern Israel, with abnormal DS screening tests. E-learning tool impact was assessed as knowledge level, informed choices, satisfaction with the intervention and GC process, the state of anxiety and duration of the GC meeting. The 321 study participants were randomized to three groups: animation movie, booklet, and control. All participants had been asked to complete pre- and post-counseling questionnaires. Outcome scores were compared between the research groups. Results showed increased knowledge level in general among participants in the animation group; among minority participants, the highest knowledge level was in the animation group. Anxiety levels and informed choices were not statistically different among the groups. However, watching the animation, Jewish ethnicity, good level of genetic literacy, and academic degree were significant predictors of informed choice, and those who watched the animation were three times more likely to make an informed choice than the control group. Our findings suggest that this e-learning tool is efficient and acceptable for the general population. Special attention is needed for minorities with lower genetic literacy and education.

Neuroimaging, clinical and life course correlates of normal-appearing white matter integrity in 70-year-olds.

We investigate associations between normal-appearing white matter microstructural integrity in cognitively normal ∼70-year-olds and concurrently measured brain health and cognition, demographics, genetics and life course cardiovascular health. Participants born in the same week in March 1946 (British 1946 birth cohort) underwent PET-MRI around age 70. Mean standardized normal-appearing white matter integrity metrics (fractional anisotropy, mean diffusivity, neurite density index and orientation dispersion index) were derived from diffusion MRI. Linear regression was used to test associations between normal-appearing white matter metrics and (i) concurrent measures, including whole brain volume, white matter hyperintensity volume, PET amyloid and cognition; (ii) the influence of demographic and genetic predictors, including sex, childhood cognition, education, socio-economic position and genetic risk for Alzheimer's disease (APOE-ɛ4); (iii) systolic and diastolic blood pressure and cardiovascular health (Framingham Heart Study Cardiovascular Risk Score) across adulthood. Sex interactions were tested. Statistical significance included false discovery rate correction (5%). Three hundred and sixty-two participants met inclusion criteria (mean age 70, 49% female). Higher white matter hyperintensity volume was associated with lower fractional anisotropy [b = -0.09 (95% confidence interval: -0.11, -0.06), P < 0.01], neurite density index [b = -0.17 (-0.22, -0.12), P < 0.01] and higher mean diffusivity [b = 0.14 (-0.10, -0.17), P < 0.01]; amyloid (in men) was associated with lower fractional anisotropy [b = -0.04 (-0.08, -0.01), P = 0.03)] and higher mean diffusivity [b = 0.06 (0.01, 0.11), P = 0.02]. Framingham Heart Study Cardiovascular Risk Score in later-life (age 69) was associated with normal-appearing white matter {lower fractional anisotropy [b = -0.06 (-0.09, -0.02) P < 0.01], neurite density index [b = -0.10 (-0.17, -0.03), P < 0.01] and higher mean diffusivity [b = 0.09 (0.04, 0.14), P < 0.01]}. Significant sex interactions (P < 0.05) emerged for midlife cardiovascular health (age 53) and normal-appearing white matter at 70: marginal effect plots demonstrated, in women only, normal-appearing white matter was associated with higher midlife Framingham Heart Study Cardiovascular Risk Score (lower fractional anisotropy and neurite density index), midlife systolic (lower fractional anisotropy, neurite density index and higher mean diffusivity) and diastolic (lower fractional anisotropy and neurite density index) blood pressure and greater blood pressure change between 43 and 53 years (lower fractional anisotropy and neurite density index), independently of white matter hyperintensity volume. In summary, poorer normal-appearing white matter microstructural integrity in ∼70-year-olds was associated with measures of cerebral small vessel disease, amyloid (in males) and later-life cardiovascular health, demonstrating how normal-appearing white matter can provide additional information to overt white matter disease. Our findings further show that greater 'midlife' cardiovascular risk and higher blood pressure were associated with poorer normal-appearing white matter microstructural integrity in females only, suggesting that women's brains may be more susceptible to the effects of midlife blood pressure and cardiovascular health.

Education counteracts the genetic risk of Alzheimer's disease without an interaction effect.

Alzheimer's disease (AD) is a major cause of disability and mortality in older adults. This study aimed to investigate the association of AD with education and genetic factors. We conducted a prospective cohort study using data from the UK Biobank. Genetic risk was assessed using a polygenic risk score for AD. The educational level was categorized as either low, intermediate, or high. AD was defined using the International Classification of Diseases and Related Health Problems, 10th revision. Logistic regression models were used to investigate the independent and combined effects of genetic factors and educational levels on the risk of AD. We included 318,535 participants in this study (age: 56.53 ± 8.09 years; male: 44.81%). Compared with a low genetic risk, a high genetic risk was associated with a significantly greater risk of AD (OR = 7.09, 95% CI: 6.09-8.26). A high educational level was associated with a 30% lower risk of AD compared with a low educational level (OR = 0.70, 95% CI: 0.60-0.81). Combining genetic risk and education categories, individuals with a low genetic risk and high educational level had a more than 90% (OR = 0.09, 95% CI: 0.05-0.16) lower risk of AD compared to those with a high genetic risk and low educational level. There was no significant interaction between genetic risk and educational level regarding AD risk (p for interaction = 0.359). Education counteracts the genetic risk of AD, without an interaction effect. Increasing education to reduce the incidence of AD is of same importance across individuals with different genetic risk.

Diagnostics and management of patients with inherited retinal diseases in Germany : Results of a nationwide survey of university and non-university eye departments and specialized practices

Inherited retinal diseases (IRDs) refer to aheterogeneous group of rare disorders that potentially lead to blindness. Emerging therapeutic options have led to agrowing interest in IRDs; however, there are insufficient systematic studies on IRDs in Germany characterizing the demographics and management in clinical practice. To characterize the care for IRD patients in Germany, to assess the applied diagnostics, the use of databases and the implementation of education in ophthalmic genetics. The anonymous online survey (SoSci Survey GmbH) was sent to all German ophthalmology departments listed on the website of the German Ophthalmological Society and to three practices focusing on IRDs. The overall response rate was 44.8%. Almost all institutions (93.6%) reported seeing IRD patients, but university and non-university hospitals differed in the number of patients. Databases are used in 60% of universities but only in 5.9% of non-university hospitals. Regarding the number of patients with genetic diagnostics, 53% of the non-university and 12% of the university sites reported that 20% at most of their patients had received amolecular genetic diagnosis. The results of the IRD practices are comparable with the university hospitals. Patients with biallelic RPE65 mutations-associated IRD, potential candidates for treatment with voretigene neparvovec (Luxturna®), were followed in 9/25 participating university departments. This survey highlights the deficits in the management of IRD patients. In particular, we found aclear difference between university and non-university hospitals in the rate of patients with known molecular genetic results. Improvements should be initiated in the latter, especially because of existing and emerging therapeutic options.

Genetic testing and gene therapy in retinal diseases: Knowledge and perceptions of optometrists in Australia and New Zealand.

With advances in gene-based therapies for heritable retinal diseases, primary eye care clinicians should be informed on ocular genetics topics. This cross-sectional survey evaluated knowledge, attitudes, and concerns regarding genetic testing and gene therapy for retinal diseases among optometrists in Australia and New Zealand. Survey data included practitioner background, attitudes and practices towards genetic testing for monogenic inherited retinal disease (IRDs) and age-related macular degeneration, and knowledge of ocular genetics and gene therapy. Responses were received from 516 optometrists between 1 April and 31 December 2022. Key perceived barriers to accessing genetic testing were lack of clarity on referral pathways (81%), cost (65%), and lack of treatment options if a genetic cause is identified (50%). Almost all respondents (98%) believed that ophthalmologists should initiate genetic testing for IRDs and fewer understood the role of genetic counsellors and clinical geneticists. This study found that optometrists in Australia and New Zealand have a high level of interest in ocular genetics topics. However, knowledge gaps include referral pathways and awareness of genetic testing and gene therapy outcomes. Addressing perceived barriers to access and promoting sharing of knowledge between interdisciplinary networks can set the foundation for genetic education agendas in primary eye care.

The State of Genetics and Genomics Education in US Physician Assistant Programs.

This study aimed to assess the current landscape of genetics-genomics education in physician assistant (PA) student training. A 25-question electronic survey was emailed to program directors of the 273 accredited PA programs. Questions represented PA program demographics and 4 domains: curricular characteristics and perceived adequacy; content; curricular approaches and instructional methods; and intent, barriers, and perceived needs for an optimal curriculum. A total of 115 PA program representatives (42%) returned the survey. More than two-thirds of responding programs do not require a prerequisite genetics course for matriculation. Most programs (48%) include 1 to 10 contact hours of genetics-genomics content and use various content delivery methods and approaches. Most programs (67%) use PA program faculty to teach genetics-genomics as part of one course or many courses throughout the curriculum (85%) using didactic lectures (97%). The most significant barrier to developing an optimal curriculum is an already overloaded curriculum (71%). Physician assistant educators welcome supportive resources, such as genetic case studies (96%). The study findings elucidate the current state of genetics-genomics education in PA programs. Every responding program reports that genetics-genomics is integrated into their curriculum; however, no standardization exists between programs. Although medical genetics-genomics has changed and advanced rapidly since a similar survey was conducted 14 years ago, the number of contact hours is unchanged, and genetics-genomics content is less dispersed throughout PA curricula. To create genetic-competent and genomic-competent PAs, education must evolve to stay current with ongoing advancements in genomic science.

Using a multistep approach with multidisciplinary team to increase the diagnosis rate of Lynch syndrome-associated colorectal cancer after universal screening: a single-center study in Japan

Backgrounds: This study aimed to evaluate the changes in the rates of genetic counseling and genetic testing as well as the diagnosis rate of Lynch syndrome (LS)-associated colorectal cancer before and after multistep approach with multidisciplinary team in Japanese.MethodsIn September 2016, we started universal screening for LS by mismatch repair protein immunohistochemistry and prospectively collected the records. Following patient interviews, we started multistep approach with multidisciplinary team (MA) in January 2020. MA consists of six surgeons, one genetic counselor, one medical geneticist, and six pathologists. MA is set up to compensate for patients’ lack of knowledge about genetic diseases and make case selection for elderly colorectal cancer patients with deficient mismatch repair (dMMR). MA is designed as a system that could be performed by a small number of medical genetic specialists. A total of 522 patients were included during the study duration, 323 and 199 patients in the pre-MA (P-MA) and MA groups, respectively.ResultsThe frequency of dMMR in all patients was 10.0%. The patient interview results indicated a significant lack of patient education regarding genetic diseases. The rates of genetic counseling and genetic testing was significantly higher in MA group than in P-MA group (genetic counseling: MA 34.6% vs. P-MA 7.7%, p = 0.04; genetic testing: MA 30.8% vs. P-MA 3.8%, p = 0.02). Moreover, the diagnosis rate of LS-associated colorectal cancer was significantly higher in MA group (2.5%) than in P-MA group (0.3%) (P = 0.03). In addition, MA could be performed without problems despite the small number of medical and human genetics specialists.ConclusionsMA has achieved appropriate pickup of suspected hereditary colorectal cancer patients and complemented the lack of knowledge about genetic diseases. The introduction of MA increased LS-associated colorectal cancer after universal screening. MA is an appropriate LS screening protocol for Japanese patients who lag behind in medical and human genetics education.

Commonalities and contrasts: North American program directors' perspectives on genetic counseling education.

There is currently a gap in the literature regarding education by and for genetic counseling (GC) students and genetic counselors. Since little is written about current strategies used in GC graduate programs, we conducted a qualitative semi-structured interview study of North American GC program directors to learn about their educational goals and practices. We recruited 25 program directors from the United States and Canada through the Association of Genetic Counseling Program Directors for interviews using a video conferencing platform. Interviews were recorded and transcribed, followed by content analysis to analyze education frameworks; processes of program planning and development; approaches and strategies for teaching and assessing GC core knowledge and skills; and systemic factors that influence GC education. We emphasized areas that are challenging to teach, particularly ethical, legal, and social issues (ELSI); disability issues; genomics; counseling skills; diversity, equity, inclusion, justice (DEIJ) issues; professional identity; research skills; and teaching skills. We found commonalities supported by standards and practice-based competencies and also a rich diversity of program cultures, approaches, and techniques for teaching and assessing genetic counseling skills. There was a consistent theme of integration across the program for all areas examined. A multilayered, comprehensive approach to DEIJ issues was advocated. Planned change was a logical outcome of program assessment, while unplanned change called for flexibility and creativity. The description of GC educational practices provides documentation of current approaches and strategies, guidance for new GC programs, and inspiration for continued evolution of existing GC graduate programs.

(284) EXPECTATIONS AND GENETIC KNOWLEDGE WITHIN AUSTRIAN ANDROLOGIST: A NATIONWIDE SURVEY ANALYSIS. TRUTH OR ILLUSION?

Abstract Objectives Recent advances in genetics are shedding light on previously unknown topics in male infertility in the last decade, thus gaining higher importance to these diagnostics. Meanwhile, therapeutic management become often determined by novel genetic/epigenetic findings, therefore, it is essential for practising andrologists to have an adequate knowledge armamentarium. Methods To assess individual genetic knowledge correlated to male infertility and doctors’ expectations we performed an anonymous online survey among Austrian Andrologists and compared these results to one global survey of experts in the field. All Austrian Andrological Working Group members were invited to fill in a short online questionnaire independently. Results The survey was viewed 67 times, 34 experts started it with a completion rate of 85.29% by 5 dropouts after starting. Average time to complete: 3,5 min. Interviewed for the request for genetic investigations in infertile men with NOA/OAT syndrome, only 73.33 % responded with yes, whereas 13.33% no. Overall-Matrix-Scorecard (for maximal 5-score) rating about the importance of genetic investigations in such men is reported in Table 1. Karyogram-analysis will be performed in 32,8%, AZF-microdeletion-mutations-investigations in 31,34% and CFTR-mutation in 22,39% for such men, even less the majority is believing that more sophisticated genetic investigations will help understand male infertility (probably and absolutely yes in 64% and 28%). Regarding their own training in genetics, respondents are believing that they are adequately prepared in 26.67% and not at all in 23.23%; 6,67 % answered somehow, but interestingly 43.33% responded that it could definitively be better. Conclusions The online survey showed exemplary that there is obviously a desire for better knowledge of basic genetic knowledge for adequate therapy of male infertility Furthermore, the current practice is not guideline-oriented. Andrologist specialists appear not comfortable with their own medical education in human genetics. Finally, these national results are in line with the international survey. Conflicts of Interest None

Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study

Genetic research has identified a large number of genetic variants, both rare and common, underlying neurodevelopmental disorders (NDD) and major psychiatric disorders. Currently, these findings are being translated into clinical practice. However, there is a lack of knowledge and guidelines for psychiatric genetic testing (PsychGT) and genetic counseling (PsychGC). The European Union-funded COST action EnGagE (CA17130) network was started to investigate the current implementation status of PsychGT and PsychGC across 35 participating European countries. Here, we present the results of a pan-European online survey in which we gathered the opinions, knowledge, and practices of a self-selected sample of professionals involved/interested in the field.We received answers from 181 respondents. The three main occupational categories were genetic counselor (21.0%), clinical geneticist (24.9%), and researcher (25.4%). Of all 181 respondents, 106 provide GC for any psychiatric disorder or NDD, corresponding to 58.6% of the whole group ranging from 43.2% in Central Eastern Europe to 66.1% in Western Europe. Overall, 65.2% of the respondents reported that genetic testing is offered to individuals with NDD, and 26.5% indicated the same for individuals with major psychiatric disorders. Only 22.1% of the respondents indicated that they have guidelines for PsychGT. Pharmacogenetic testing actionable for psychiatric disorders was offered by 15%. Interestingly, when genetic tests are fully covered by national health insurance, more genetic testing is provided for individuals with NDD but not those with major psychiatric disorders.Our qualitative analyses of responses highlight the lack of guidelines and knowledge on utilizing and using genetic tests and education and training as the major obstacles to implementation. Indeed, the existence of psychiatric genetic training courses was confirmed by only 11.6% of respondents. The question on the relevance of up-to-date education and training in psychiatric genetics on everyday related practice was highly relevant.We provide evidence that PsychGC and PsychGT are already in use across European countries, but there is a lack of guidelines and education. Harmonization of practice and development of guidelines for genetic counseling, testing, and training professionals would improve equality and access to quality care for individuals with psychiatric disorders within Europe.

Attitudes about pharmacogenomic testing vary by healthcare specialty.

Aim: To understand how attitudes toward pharmacogenomic (PGx) testing among healthcare providers varies by specialty. Methods: Providers reported comfort ordering PGx testing and its perceived utility on web-based surveys before and after genetics education. Primary quantitative analyses compared primary care providers (PCPs) to specialty providers at both timepoints. Results: PCPs were more likely than specialty care providers to rate PGx testing as useful at both timepoints. Education increased comfort ordering PGx tests, with larger improvements among PCPs than specialty providers. Over 90% of cardiology and internal medicine providers rated PGx testing as useful at pre- and post-education. Conclusion: PCPs overwhelmingly perceive PGx to be useful, and provider education is particularly effective for improving PCPs' confidence. Education for all specialties will be essential to ensure appropriate integration into routine practice.

Attitude and awareness of the public toward genetic testing in Al-Madinah Al-Munawwara, Saudi Arabia

Background: Genetic testing is a growing field that can provide valuable information about an individual's health, ancestry, and potential risks for various health conditions. While some people are aware of its potential benefits, others have concerns about the privacy of their genetic data, limitations of the testing, ethical issues, and disparities in access to testing and interpretation services. While genetic testing has the potential to provide valuable information, there are valid concerns about privacy, accuracy, and ethical issues. The public's attitudes toward genetic testing is shaped by various factors, including accessibility, cost, accuracy, and reliability of the testing and ethical and privacy concerns. A survey-based methodology was used to investigate the attitudes and awareness of the public toward genetic testing and identify the factors that influence these attitudes and awareness. Our study aimed to study the attitude and awareness of Saudi medical and non-medical students toward gene testing across different Universities in Al Madinah, Saudi Arabia. Methods: A cross-sectional study was conducted on 274 participants. The data were analyzed descriptively using statistical package for the social sciences (SPSS). Results: Across the 274 participants, the majority have agreed on the importance of gene studying especially in facilitating the marriage process and assuring healthier generations, while there was also a concern about the security and confidentiality of gene mapping and banking, screening for cancer, and cardiac disorder were on top of interest among the participants to use gene screening in. Conclusions: In conclusion, genetic testing is essential for diagnosing genetic diseases, but predictive genetic tests have limited benefits due to gene-environment interactions. Advances in genome technologies have produced large amounts of sensitive genetic data. Genetic education is necessary to promote informed decision-making, reduce genetic essentialism, and improve genomics literacy. Most study participants acknowledged the significance of genetic disorder screening before marriage to improve their health and their offspring's health.

Technology-enhanced acceleration of germline evaluation for therapy (TARGET): Results of a randomized controlled trial of a pretest patient-driven webtool vs. genetic counseling for prostate cancer germline testing.

10598 Background: Germline genetic testing is important for prostate cancer management, clinical trial eligibility and hereditary cancer risk assessment. Despite this, genetic testing is underutilized and there is a shortage of genetic counselors. To address these gaps, we designed a webtool to provide patient-driven genetic education and conducted a randomized non-inferiority trial to compare it with traditional pre-test genetic counseling. Methods: TARGET is a multi-center randomized controlled trial comparing standard pre-test genetic counseling versus web-based genetic education (intervention) (NCT04447703). The study protocol was previously published (PMID 35710085). Briefly, patients with prostate cancer who met criteria for germline testing (based on tumor features, ancestry or family history) were randomized to pre-test genetic education through genetic counseling vs a 9-module webtool created by the study team and Prostate Cancer Foundation. The primary endpoint was non-inferiority in reducing decisional conflict between the webtool and genetic counseling by a margin of 4 (set in advance) on the validated Decision Conflict Scale. Analysis of covariance was used to compare decisional conflict between groups. All participants opting for testing received a 51-gene Invitae panel, with results delivered to the patient and their provider. Results: 346 patients with prostate cancer with a mean age of 63.7 years were randomized to genetic counseling (n=174) or web-based genetic education (n=172). Compared to baseline, there were reductions in decisional conflict in both arms following pre-test genetic education (Table). Adjusting for study site and baseline decisional conflict, the test of non-inferiority in reducing decisional conflict between arms was statistically significant (difference = -0.04, 95% CI: -∞ to 1.95, p&lt;0.001). Overall 265 (76.6%) participants underwent genetic testing, including 146 (83.9%) in the genetic counseling and 119 (69.2%) in webtool arm, with the following results: negative (49.4%), variant of uncertain significance (35.5%) and pathogenic variant (15.1%). Conclusions: Delivery of pre-test genetic education through a webtool was non-inferior to genetic counseling in reducing decisional conflict. These results support a new standard of care for the use of patient-driven digital webtools for expanding access to pretest genetic education and informed decision-making for prostate cancer genetic testing. Clinical trial information: NCT04447703 . [Table: see text]

Abstract 2: A Model of Public Health Campaign on the Awareness of Alcohol Flushing and Prevention of Upper Aerodigestive Tract Cancers in East Asia

Abstract Purpose: The purpose of this study is to share a model of public health campaign on the awareness of alcohol flushing and prevention of upper aerodigestive tract cancers in East Asia. East Asians suffers the highest cancer burden attributable to alcohol use with a particularly high incidences of esophageal cancer and other upper aerodigestive trac (UADT) cancers. Alcohol use and carrying the common East Asian-specific dysfunctional mutation in the aldehyde dehydrogenase (ALDH2) gene are two major and synergistic risk factors. Alcohol flushing or alcohol intolerance is the better-known manifestation of ALDH2 deficiency following alcohol consumption. Although UADT cancers are highly preventable, there is a lack of awareness and education on alcohol flushing and its associated health risks in East Asian countries and Asian communities in the U.S. Methods: Several small-scale university-based studies have shown that alcohol flushing education and awareness could reduce alcohol consumption, indicating that a promising model for community-based public health campaign. In Taiwan, we have successfully created such a model by establishing a non-profitable advocacy group (Taiwan Alcohol Intolerance Education Society, TAIES) and collaborate with community leaders, universities, hospitals, volunteers, and government health promotion agencies to educate the public. Educational materials such as fliers, posters, animation videos, interviews were produced and disseminated widely in public exhibitions, conferences, university/community outreach events and via government websites and news/social media. Results: An interview with a popular social media influencer reached more than 500,000 viewers within one week. A national “Taiwan No Alcohol Day” on May 9th (59 =無酒, a homophone in Chinese) was also launched to raise awareness since 2019. ‘No Alcohol Day’ received endorsements from the government and more than 150 organizations. A pilot study to incorporate ALDH2 genetic test and education in oral cancer prevention program in Taiwan has been initiated. Conclusion: Our public health campaign model demonstrated wide reach and strong community and government support. Similar public health campaign on alcohol flushing and cancer risk should also be translated and disseminated in other East Asian countries and to the nearly 19 million Asian Americans in the U.S. Citation Format: Che-Hong Chen, Daria Mochly-Rosen, Su-I Hou. A Model of Public Health Campaign on the Awareness of Alcohol Flushing and Prevention of Upper Aerodigestive Tract Cancers in East Asia [abstract]. In: Proceedings of the 11th Annual Symposium on Global Cancer Research; Closing the Research-to-Implementation Gap; 2023 Apr 4-6. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2023;32(6_Suppl):Abstract nr 2.

&lt;i&gt;Mulheres pela Primatologia&lt;/i&gt;: a Brazilian social movement promoting women in science and primate conservation

&#x0D; &#x0D; &#x0D; Mulheres pela Primatologia (Women for Primatology) is a Brazilian social movement in support of women in science and the conservation of non-human primates. Activities occur through collaborative and interdisciplinary communication of women scientists of different ages, regions and origins. The objectives of the movement are to discuss gender equity, encourage representation in science, emphasize the importance of women’s role in primatology, and inspire other women to enter into scientific careers. The movement’s activities began in June 2021 with the creation of an Instagram profile that published information about women in science, primates, the representation of women, the history of women in primatology, interviews with distinguished primatologists, and events, among others. The activities presented here were developed between June 2021 and August 2022. As of August 2022, the profile @mulherespelaprimatologia had 2,349 followers, 126 publications and 2,044 comments, reaching 8,645 accounts, with 5,479 interactions recorded. Mulheres pela Primatologia is linked to the Jane Goodall Institute’s Roots &amp; Shoots’ international network. In March 2022, the Youtube channel was created to broadcast three online events, with both young and established primatologists. The Guia Primatólogas do Brasil (Guide to Brazilian Women Primatologists) was created to democratize access to contact with women primatologists working in Brazil as advisors in graduate programs. The first edition of the guide featured 25 primatologists whose areas of expertise are behavior, ecology, conservation, physiology, ethnozoology, genetics, and environmental education. The performance and actions of Mulheres pela Primatologia have resulted in diverse products that range from scientific dissemination to support and encouragement for young primatologists, reinforcing women’s empowerment in primatology.&#x0D; &#x0D; &#x0D;

Digital cancer genetic risk assessment in a gynecologic oncology clinic.

10612 Background: Population-based screening for hereditary cancer syndromes and referral of those who screen positive for genetic testing is a cost effective, evidence-based national health priority. However, under-recognition of hereditary cancer syndromes remains a critical concern, with fewer than 20% of individuals with Hereditary Breast and Ovarian Cancer Syndrome and Lynch Syndrome identified. Here, we evaluate the Ambry Genetics Comprehensive, Assessment, Risk, and Education (CARE) Program, a risk-stratification tool to assess eligibility for National Comprehensive Cancer Network (NCCN) genetic testing criteria and lifetime risk for breast cancer based on the Tyrer-Cuzick (version 8.0) risk algorithm. Methods: Between November 2022 and February 2023, new patients in a gynecologic oncology clinic were prompted by text message to complete CARE prior to their appointment. Those using CARE then completed a System Usability Scale (SUS), a validated 10-item questionnaire for the assessment of perceived usability. Results: Sixty patients presented for a new patient gynecologic oncology appointment and were prompted to complete CARE. The median patient age was 55 years (interquartile range, 40-68). The patients self-identified as Non-Hispanic White (44, 73%), Non-Hispanic Black (5, 8%), Asian (5, 8%), Hispanic (3, 5%), other (2, 3%), and unknown (1, 2%). All identified as female. Forty-three patients (72%) completed CARE. Among CARE users, 11 (26%) were identified as meeting criteria for genetic testing; of these, 9 (82%) proceeded with point-of-care same day genetic testing. Nine (21%) patients were eligible for enhanced breast cancer screening based on an estimated lifetime breast cancer risk of 20% or greater; of these, 100% were referred for high-risk breast screening. There were no patient demographics associated with completion of CARE. Forty-one patients (72%) completed the SUS survey; the median SUS score was 80 (interquartile range, 60-92.5), which corresponded to 85-89th percentile and a letter grade of A-. Conclusions: Implementation of a digital tool for cancer genetic risk assessment identified a quarter of patients to be eligible for genetic testing, among whom 82% completed same-day genetic testing. Additionally, the tool was reviewed favorably by patient users. Large randomized controlled trials of health information technology tools are needed to move closer to the goal of population-based hereditary cancer risk assessment.

The Feasibility and Impact of a Computer-Aided Genetics Education Module in an Obstetrics Clinic: A Randomized Controlled Trial

ABSTRACT Background Rapid advances in prenatal genetic testing highlight the need for technology-based tools to assist in informed decision-making. Purpose This study evaluates the feasibility, acceptability, and efficacy of a Computer-Aided Genetics Education Module (CAGEM) as an e-counseling tool and decision aid in a busy obstetric clinic among a socially disadvantaged patient population. Methods A randomized controlled trial with patients randomized (1:1) to receive the intervention in addition to standard of care or standard of care only. Participants responded to pre- and posttest questionnaires. Results Although limited in recruitment by the COVID-19 pandemic, this tool scored 81.0% acceptability and 91.0% feasibility among 88 participants. No statistically significant difference was detected between the overall improvement in knowledge scores and the total posttest knowledge scores among the intervention and control groups. However, the intervention group scored significantly higher on the posttest questions regarding NIPT interpretation (61.7 ± 49.1 vs 80.9 ± 39.8, p = .049), Down syndrome (78.7 ± 41.4 vs 93.6 ± 24.7, p = .016), and inheritance of recessive conditions (59.6 ± 49.6 vs 91.4 ± 28.2, p < .001). The intervention group also showed a greater improvement in knowledge scores for inheritance of recessive conditions (31.9 ± 8.1 vs 0 ± 7.8, p = .006) and a protective effect in knowledge scores for Down syndrome (0 ± 6.1 vs −17.1 ± 6.0, p =.049). Discussion CAGEM may be a feasible and acceptable e-counseling tool and decision aid, especially when compared to standard of care prenatal counseling. Although overall knowledge did not show significant improvement, CAGEM showed promise in enhancing knowledge acquisition for certain genetic education topics, showing that technology-based tools may be beneficial in informed consent. Future iterations may be revised to improve clarity, especially around invasive testing methods, race congruency, and insurance coverage. Translation to Health Education Practice: This study’s method creates a model for Health Educators to design and evaluate technology-based tools for improving informed decision-making around prenatal genetic testing. Tools like CAGEM may be utilized to improve patient education prior to prenatal appointments and thus serve as an adjunct to provider counseling. Specifically, CAGEM addresses multiple NCHEC Responsibilities and Competencies including #1.1.2, 1.3.2, 1.3.4, 4.2.9, and 6.4.3.

Misunderstood terms and concepts identified through user testing of educational materials for fragile X premutation: "Not weak or fragile?"

Complicated genetic mechanisms and unpredictable health risks associated with the FMR1 premutation can result in challenges for patient education when the diagnosis is made in a newborn. From October 15, 2018, to December 10, 2021, North Carolina parents could obtain FMR1 premutation results about their newborns through a voluntary expanded newborn screening research study. The study provided confirmatory testing, parental testing, and genetic counseling. We developed web-based educational materials to augment information about fragile X premutation conveyed by a genetic counselor. Many genetics education materials are developed for the lay population. However, relatively little research is published on how well individuals understand these materials. We conducted three rounds of iterative user testing interviews to help refine web-based educational materials that support understanding and self-paced learning. The participants included 25 parents with a 2-year college degree or less and without a child identified with fragile X syndrome, premutation, or gray-zone allele. Content analysis of interview transcripts resulted in iterative changes and ultimately saturation of findings. Across all rounds of interviews, there were two terms that were commonly misunderstood (fragile and carrier) and two terms that elicited initial misconceptions that were overcome by participants. Many also had difficulty understanding the relationship between fragile X premutation and fragile X syndrome as well as appreciating the implications of having a "fragile X gene." Website layout, formatting, and graphics also influenced comprehension. Despite iterative changes to the content, certain issues with understandability persisted. The findings support the need for user testing to identify misconceptions that may interfere with understanding and using genetic information. Here, we describe a process used to develop and refine evidence-based, understandable parental resources on fragile X premutation. Additionally, we provide recommendations to address ongoing educational challenges and discuss the potential impact of bias on the part of expert content developers.