Genetics Education Research Articles

Preparing Medical Specialists to Practice Genomic Medicine: Education an Essential Part of a Broader Strategy.

Developing a competent workforce will be crucial to realizing the promise of genomic medicine. The preparedness of medical specialists without specific genetic qualifications to play a role in this workforce has long been questioned, prompting widespread calls for education across the spectrum of medical training. Adult learning theory indicates that for education to be effective, a perceived need to learn must first be established. Medical specialists have to perceive genomic medicine as relevant to their clinical practice. Here, we review what is currently known about medical specialists’ perceptions of genomics, compare these findings to those from the genetics era, and identify areas for future research. Previous studies reveal that medical specialists’ views on the clinical utility of genomic medicine are mixed and are often tempered by several concerns. Specialists generally perceive their confidence and understanding to be lacking; subsequently, they welcome additional educational support, although specific needs are rarely detailed. Similar findings from the genetics era suggest that these challenges are not necessarily new but on a different scale and relevant to more specialties as genomic applications expand. While existing strategies developed for genetic education and training may be suitable for genomic education and training, investigating the educational needs of a wider range of specialties is critically necessary to determine if tailored approaches are needed and, if so, to facilitate these. Other interventions are also required to address some of the additional challenges identified in this review, and we encourage readers to see education as part of a broader implementation strategy.

Reasoning about genetic mechanisms: Affordances and constraints for learning

AbstractMechanisms are central in scientific explanations. However, developing mechanistic explanations is difficult for students especially in domains in which mechanisms involve abstract components and functions, such as genetics. One of the core components of genetic mechanisms are proteins and their functions. Students struggle to reason about the role of proteins while learning genetics and show limited ability to provide mechanistic explanations of genetic phenomena. In genetics education there are currently two competing theoretical frameworks regarding what domain‐specific knowledge about proteins is important for reasoning about genetic mechanisms. One framework assumes knowledge about specific protein functions in the body, a tool kit of functions; the other framework assumes more abstracted knowledge about protein interactions that are common to all protein functions. These frameworks implicate different instructional frameworks: One offers to provide concrete examples of protein functions while the other offers a more general description of protein activity. Our aim in this study was to ascertain the ways in which students' reasoning about proteins' role in genetic phenomena (both familiar and novel) relates to the two theoretical frameworks. Toward this end we engaged 7th grade students in learning about proteins functions in the mechanisms underlying genetic traits using an online simulation environment that embodied key aspects of both frameworks. We analyzed students' responses to the final test questions in which they were asked to generatively reason about the underlying mechanisms of two novel genetic traits. Our findings suggest that students use proteins in their explanations mainly when they can explain the protein function and that knowledge about a few specific functions is insufficient to support conceptualization of new functions. Moreover, knowledge of general protein activities common to most functions is also insufficient. We suggest a new combined approach to supporting students' understanding of proteins' role in genetic mechanisms.

Primary care physicians' understanding and utilization of pediatric exome sequencing results.

Optimizing exome sequencing (ES) utility requires effective communication and collaboration between primary care physicians (PCPs) and genetics healthcare providers (GHP). To explore how PCPs use ES results to coordinate multipart management plans for complex pediatric patients, we assessed result understanding and utilization. Twenty-seven PCPs of pediatric patients with ES results from a genetics clinic completed a mixed methods 45-question survey measuring perceived genetics knowledge, confidence performing genetics tasks, understanding of ES technology and results, and expectations of GHP. Quantitative and qualitative data analysis classified by ES result types generated descriptive statistics, Pearson correlation coefficients, and common themes. Forty-five-percent of PCPs interpreted variant of uncertain significance results as diagnostic (implementing management changes and recommending familial testing). Most PCPs (85%) identified positive ES results impacts, but only 65% indicated ES was beneficial to care. The majority (74%) expected GHP and patients' families to assume follow-up care responsibility and future ES results re-interpretations. Limited knowledge may be a factor, as 59% desired more patient care information from GHP. Our results suggest optimizing continuity of care and collaboration for pediatric patients with ES results requires additional communication between GHP and PCPs, along with continuing genetics education for PCPs aimed at improving genetic literacy.

The Genetic Education for Men (GEM) Trial: Development of Web-Based Education for Untested Men in BRCA1/2-Positive Families.

Cascade testing for hereditary breast/ovarian cancer is an important public health priority. Increasing attention has been paid to the relevance of testing for men within BRCA1/2-positive families given that such testing may provide important information about their cancer risks, particularly for prostate cancer, and risks to their offspring. However, men are much less likely to seek genetic counseling and testing than their at-risk female relatives. To facilitate access to pre-test information and testing, we developed a web-based intervention (WI) for men that we are evaluating in a pilot randomized controlled trial (RCT). This paper describes three phases of research in the development of the WI: (1) formative (qualitative) research among men from BRCA1/2 families to assess needs and preferences for education; (2) a detailed description of the organization, format, and content of the WI; and (3) usability testing. We discuss the aims and hypotheses of the pilot RCT in which the WI is being compared with an enhanced usual care condition among at-risk men. We expect that the WI described here will foster informed decisions and lead to increased use of BRCA1/2 counseling and testing, potentially yielding improved cancer control outcomes for this understudied group, and for their at-risk relatives.

Evidence-Based Genetic Education of Non-Genetic-Expert Physicians: Experiences Over Three Decades in Amsterdam.

To study and improve the competences of health-care workers in the domain of genetics, attention needs to be paid to attitudes, activities, knowledge, and changes in performance. Three decades of research on genetic education for non-genetic-experts in Amsterdam are summarized, including both local and international collaborative efforts. Evidence shows that assessment of learners’ needs and the definition of competences have driven slow but gradual improvement in genetics competence among non-geneticists. Attitudes and behavior are mainly influenced by face-to-face training. eLearning modules can serve to increase knowledge in a large number of participants in a rapidly changing field. Materials developed for accredited courses will sometimes be used for reference or just in time learning. Taking a theoretically informed evaluation approach, it has been possible to demonstrate satisfaction, improved knowledge, and self-reported behavioral change, although measuring effects on health-care practice and population health remains challenging. A flexible approach is needed to serve learners’ needs in a field with many upcoming challenges.

The Summer Institute in Statistical Genetics.

The Elizabeth W. Jones Award for Excellence in Education recognizes an individual or group that has had significant, sustained impact on genetics education at any level, from K-12 through graduate school and beyond. Bruce Weir (University of Washington) is the 2019 recipient in recognition of his work training thousands of researchers in the rigorous use of statistical analysis methods for genetic and genomic data. His contributions fall into three categories: the acclaimed Summer Institute in Statistical Genetics, which has been held continuously for 23 years and has trained > 10,000 researchers worldwide; the popular graduate-level textbook Genetic Data Analysis; and the training of a growing number of forensic geneticists during the rise of DNA evidence in courts around the world.

Genomics education in nursing in Hong Kong, Taiwan and Mainland China.

To identify issues and challenges of genomics education in Hong Kong, Taiwan and Mainland China. The use of genetics/genomics in health care, such as genetic testing, pharmacogenomics and tumour profiling in the context of cancer, is increasing. The rapid application of genetics/genomics in clinical practice requires healthcare providers to be competent to practise genetics-related patient care. We reviewed current practices in genomics education in nursing in Hong Kong, Taiwan and Mainland China, including the opportunities for nurses to advance their knowledge and recommendations to incorporate genomics education in the nursing curriculum in these regions. While many citizens and health professionals recognize the importance of new and exciting research areas of genomics/genetics, there are still many gaps in the translation of genetic/genomic medicine into clinical practice. There is also a similar lack of genetics professionals in China. Hong Kong, Taiwan and Mainland China face challenges in promoting genetic education in nursing. A strategic approach in a coordinated effort ineffectively translating genomic knowledge into healthcare practice should be established in these three regions. Nursing educators in Hong Kong, Taiwan and Mainland China should link with the international nursing community (e.g. Global Genomics Nursing Alliance) and form closer networks to improve education in the area of genetics and genomics. From a policy level, genomics education is suggested to be incorporated in nursing curriculum to enhance nurses' competency in incorporating genetics/genomics service into patient care.

MAGENTA (Making Genetic testing accessible): a prospective randomized controlled trial comparing online genetic education and telephone genetic counseling for hereditary cancer genetic testing

BackgroundStudies have consistently indicated that the majority of individuals meeting the US Prevention Services Task Force guidelines for genetic testing have not had genetic counseling or testing. Despite increased availability and lower costs of multiplex cancer gene panels, there remains a gap in genetics services that has not been addressed by the current care delivery models. Lower cost of DNA sequencing with online patient-initiated ordering could increase test availability, but the ideal quantity and delivery method of patient education is not known. We hypothesized that online genetic education and testing with access to board certified genetic counselors could improve access to genetic testing while maintaining test quality and clinical utility. The MAGENTA (MAking GENetic Testing Accessible) trial is a nationwide randomized study designed to compare the effectiveness of online genetic education with pre- and post-test telephone genetic counseling to three potentially more accessible alternative approaches: online genetic education with optional telephone counseling, online genetic education with required pre-test telephone genetic counseling, and online genetic education with required post-test telephone genetic counseling.Methods3000 women nationwide will undergo genetic testing for 19 hereditary cancer genes. This is a randomized four-arm non-inferiority study with equal randomization. The four study arms were selected to independently assess the delivery of genetic information both before and after genetic testing (pre-test and post-test) by either requiring telephone genetic counseling or providing only online education with optional telephone counseling. Patients have post-test telephone counseling when testing positive for a pathogenic inherited mutation in all four arms. Surveys measuring psychological, behavioral and cognitive state are completed online at baseline, 3 months, 12 months and 24 months post-results disclosure. The primary study outcome is cancer-risk distress at 3 months post-result disclosure.DiscussionThis trial will assess the use of a genetic service model using online access and electronic education, while evaluating the need for personal pre- and post-test genetic counseling. Data from this study may lead to increased options for delivery of genetic testing and possibly increase access to genetic testing. Identifying more individuals with inherited cancer susceptibility will allow targeted cancer prevention.Trial registrationClinicaltrials.gov: NCT02993068 (registered December 14, 2016).

Errors in Genetic Testing: The Fourth Case Series

In this ongoing national case series, we document 25 new genetic testing cases in which tests were recommended, ordered, interpreted, or used incorrectly. An invitation to submit cases of adverse events in genetic testing was issued to the general National Society of Genetic Counselors Listserv, the National Society of Genetic Counselors Cancer Special Interest Group members, private genetic counselor laboratory groups, and via social media platforms (i.e., Facebook, Twitter, LinkedIn). Examples highlighted in the invitation included errors in ordering, counseling, and/or interpretation of genetic testing and did not limit submissions to cases involving genetic testing for hereditary cancer predisposition. Clinical documentation, including pedigree, was requested. Twenty-six cases were accepted, and a thematic analysis was performed. Submitters were asked to approve the representation of their cases before manuscript submission. All submitted cases took place in the United States and were from cancer, pediatric, preconception, and general adult settings and involved both medical-grade and direct-to-consumer genetic testing with raw data analysis. In 8 cases, providers ordered the wrong genetic test. In 2 cases, multiple errors were made when genetic testing was ordered. In 3 cases, patients received incorrect information from providers because genetic test results were misinterpreted or because of limitations in the provider's knowledge of genetics. In 3 cases, pathogenic genetic variants identified were incorrectly assumed to completely explain the suspicious family histories of cancer. In 2 cases, patients received inadequate or no information with respect to genetic test results. In 2 cases, result interpretation/documentation by the testing laboratories was erroneous. In 2 cases, genetic counselors reinterpreted the results of people who had undergone direct-to-consumer genetic testing and/or clarifying medical-grade testing was ordered. As genetic testing continues to become more common and complex, it is clear that we must ensure that appropriate testing is ordered and that results are interpreted and used correctly. Access to certified genetic counselors continues to be an issue for some because of workforce limitations. Potential solutions involve action on multiple fronts: new genetic counseling delivery models, expanding the genetic counseling workforce, improving genetics and genomics education of nongenetics health care professionals, addressing health care policy barriers, and more. Genetic counselors have also positioned themselves in new roles to help patients and consumers as well as health care providers, systems, and payers adapt to new genetic testing technologies and models. The work to be done is significant, but so are the consequences of errors in genetic testing.

SAT-100 “A SWORD OF DAMOCLES”: PATIENT AND CAREGIVER BELIEFS, ATTITUDES AND PERSPECTIVES ON GENETIC SCREENING AND TESTING FOR AUTOSOMAL POLYCYSTIC KIDNEY DISEASE - FOCUS GROUP STUDY

Predictive genetic screening and testing is available for accurate and early diagnosis of hereditary autosomal polycystic kidney disease. However, the complex ethical and psychosocial implications can make decision-making challenging and requires an understanding of the patients’ values, goals and priorities. This study aims to describe patient and caregiver beliefs and expectations regarding genetic screening and testing for autosomal polycystic kidney disease (ADPKD). 154 participants (120 patients and 34 caregivers) aged 18 years and over from eight centers in Australia, France and Korea participated in 17 focus groups. Transcripts were analyzed thematically. We identified five themes: avoiding financial disadvantage (insecurity in the inability to obtain life insurance, limited work opportunities, burden of premature investment); futility in uncertainty (tolerating erratic and diverse manifestation of disease, taking preventative actions in vain, daunted by perplexity of results, risk of inheriting PKD being unknown); lacking autonomy and support in decisions (overwhelmed by ambiguous information, medicalizing family planning, appeasing the family); seizing control of wellbeing (gaining confidence in early detection, allowing preparation for the future, reassurance in family resilience); and anticipating impact on quality of life (comforted by lack of symptoms, judging value of life with PKD). For patients with ADPKD, genetic screening or testing provides an opportunity to take ownership of their health through family planning and preventive measures. However, these decisions can be wrought with tensions and uncertainty about prognostic implications, and the psychosocial and financial consequences of testing. Patient-centered genetic counseling and education that addresses patients’ concerns may support informed decision-making about genetic testing and screening in ADPKD.

Comprehensive Genetic Assessment, Risk and Education in a Mammography Pilot

Comprehensive Genetic Assessment, Risk and Education in a Mammography Pilot

Genes for Good: Engaging the Public in Genetics Research via Social Media

The Genes for Good study uses social media to engage a large, diverse participant pool in genetics research and education. Health history and daily tracking surveys are administered through a Facebook application, and participants who complete a minimum number of surveys are mailed a saliva sample kit ("spit kit") to collect DNA for genotyping. As of March 2019, we engaged >80,000 individuals, sent spit kits to >32,000 individuals who met minimum participation requirements, and collected >27,000 spit kits. Participants come from all 50 states and include a diversity of ancestral backgrounds. Rates of important chronic health indicators are consistent with those estimated for the general U.S. population using more traditional study designs. However, our sample is younger and contains a greater percentage of females than the general population. As one means of verifying data quality, we have replicated genome-wide association studies (GWASs) for exemplar traits, such as asthma, diabetes, body mass index (BMI), and pigmentation. The flexible framework of the web application makes it relatively simple to add new questionnaires and for other researchers to collaborate. We anticipate that the study sample will continue to grow and that future analyses may further capitalize on the strengths of the longitudinal data in combination with genetic information.

Evaluation of an embryology and genetic testing patient counseling education intervention for reproductive endocrinology nurses

To study the impact of an educational program on the knowledge base of reproductive endocrinology nurses on embryology and genetics topics to determine both improvement in knowledge and confidence in the nurses' ability to counsel patients on such topics. Interventional study. Clinics. None; subjects were reproductive endocrinology nurses. Preintervention knowledge self-efficacy test, educational exposure, and 2-week follow-up testing. Knowledge test scores, self-efficacy scores. Nurses, regardless of educational attainment, demonstrated statistically significant increases in knowledge of both embryology and genetics, which was retained at least 2weeks after the educational intervention. Furthermore, nurse self-efficacy increased after intervention, and qualitative data support the desire for increased educational opportunities. Nurses benefit from focused educational efforts, resulting in improved knowledge in embryology and genetics. This improved knowledge base resulted in improved nurse confidence in patient education.

Genetically modulated educational attainment and coronary disease risk.

Genetic disposition and lifestyle factors are understood as independent components underlying the risk of multiple diseases. In this study, we aim to investigate the interplay between genetics, educational attainment-an important denominator of lifestyle-and coronary artery disease (CAD) risk. Based on the effect sizes of 74 genetic variants associated with educational attainment, we calculated a 'genetic education score' in 13 080 cases and 14 471 controls and observed an inverse correlation between the score and risk of CAD [P = 1.52 × 10-8; odds ratio (OR) 0.79, 95% confidence interval (CI) 0.73-0.85 for the higher compared with the lowest score quintile]. We replicated in 146 514 individuals from UK Biobank (P = 1.85 × 10-6) and also found strong associations between the 'genetic education score' with 'modifiable' risk factors including smoking (P = 5.36 × 10-23), body mass index (BMI) (P = 1.66 × 10-30), and hypertension (P = 3.86 × 10-8). Interestingly, these associations were only modestly attenuated by adjustment for years spent in school. In contrast, a model adjusting for BMI and smoking abolished the association signal between the 'genetic education score' and CAD risk suggesting an intermediary role of these two risk factors. Mendelian randomization analyses performed with summary statistics from large genome-wide meta-analyses and sensitivity analysis using 1271 variants affecting educational attainment (OR 0.68 for the higher compared with the lowest score quintile; 95% CI 0.63-0.74; P = 3.99 × 10-21) further strengthened these findings. Genetic variants known to affect educational attainment may have implications for a health-conscious lifestyle later in life and subsequently affect the risk of CAD.

Needs assessment in genetic testing education: A survey of parents of children with autism spectrum disorder in the united states.

Understanding parents' educational needs concerning genetic testing for their children with autism spectrum disorder (ASD) is important in developing tailored, evidence-based health education materials for clinical use. Since research is lacking in this area, to bridge the gap, we examined genetic testing education needs using a nationwide sample of parents of biological children with ASD in the United States. Prospective participants were recruited from the interactive autism network, and 552 parents of biological children with ASD completed the online survey. Most participants (73.7%) were interested in receiving health education about genetic testing. Yet, the majority of them (64.7%) reported that they did not receive the information needed from physicians. Parents who identified as racial/ethnic minorities (P = 0.029), who had an education degree below college (P = 0.002), or displayed low/no awareness of genetic testing (P = 0.003) were more interested in receiving health education regarding genetic testing. Parents' most desired topics for health education include the accuracy of genetic testing (88.4%), cost (85.9%), relevant benefits of such testing (83.8%), testing procedure (77.8%), eligibility to undergo genetic testing for their children with ASD (62.4%), potential harms caused by genetic testing (56.1%), previous use and experience among individuals affected by ASD (50.8%), and confidentiality issues (48.0%). Furthermore, web-based education was the preferable approach (85.4%). Our findings can help develop health education programs and/or materials regarding genetic testing for parents and physicians to facilitate better physician-parent communication and assist parents in making informed medical decisions regarding genetic testing. Autism Res 2019, 12: 1162-1170. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This study examined educational needs on genetic testing among 552 American parents of children with autism spectrum disorder (ASD). Results showed that most parents expressed interests in receiving health education regarding genetic testing (73.7%) and favored online education resources (85.4%). Preferred topics included accuracy, cost, and testing benefits. Our findings can help develop genetic testing related health education programs and materials for parents of children with ASD.

Human Gene Editing Research: Is the Future Here Yet?

Since the discovery of DNA, researchers have pursued the prospect of correcting genetic disorders using genetic interventions. The most recent development, gene editing, poses many scientific, medical, ethical, and policy challenges, especially when the goal is editing the genomes of embryos, creating changes that can be inherited by future generations. Genetic treatments for already-born persons are not controversial, but inheritable genetic changes raise concerns about dangerous outcomes, questions about how to prioritize among scientific and societal needs, and worries about pursuing genetic changes that are enhancements rather than treatments for disease. The history of genetic-intervention research and the development of gene-editing tools like CRISPR were complicated enough, even before the “CRISPR babies” controversy arose in late 2018. CRISPR and related editing technologies should be used for basic research in order to learn more about human development and disease, but there is considerable disagreement and reason to be cautious about clinical applications. Moreover, no global enforcement mechanism exists to detect and prevent deviations from policy. Improved transparency, robust ongoing discussion, and increased education in ethics and genetics for scientists, students, and the public may therefore be both achievable goals and best practices for this rapidly developing science.

Improving cascade genetic testing for families with inherited pancreatic cancer (PDAC) risk: The genetic education, risk assessment and testing (GENERATE) study.

TPS4162 Background: 4-10% of PDAC patients harbor pathogenic germline variants in cancer susceptibility genes, including APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, and TP53. For families with such pathogenic variants, the greatest potential impact of germline testing is to identify relatives with the same pathogenic variant (cascade testing), thereby providing the opportunity for early detection and cancer interception of PDAC and other associated malignancies. Numerous factors limit cascade testing in real-world practice, including family dynamics, widespread geographic distribution of relatives, access to genetic services, and misconceptions about the importance of germline testing, such that the preventive benefits of cascade testing are often not fully realized. The primary aim of this study is to analyze two alternative strategies for cascade testing in families with inherited PDAC susceptibility. Methods: 1000 individuals (from approximately 200 families) with a confirmed pathogenic germline variant in any of the above genes in a 1st/2nd degree relative and a 1st/2nd degree relative with PDAC will be remotely enrolled through the study website (www.generatestudy.org) and randomized between two different methods of cascade testing (individuals with prior genetic testing will be ineligible): Arm 1 will undergo pre-test genetic education with a pre-recorded video and live interactive session with a genetic counselor via a web-based telemedicine platform (Doxy.me), followed by germline testing through Color Genomics; Arm 2 will undergo germline testing through Color Genomics without dedicated pre-test genetic education. Color Genomics will disclose results to study personnel and directly to participants in both arms. Participants in both arms will have the option of pursuing additional telephone-based genetic counseling through Color Genomics. The primary outcome will be uptake of cascade testing. Secondary outcomes will include participant self-reported genetic knowledge, cancer worry, distress, decisional preparedness, familial communication, and screening uptake, which will be measured via longitudinal surveys. Enrollment will begin February, 2019. Clinical trial information: NCT03762590.

Perceived Gaps in Genetics Training Among Audiologists and Speech-Language Pathologists: Lessons From a National Survey.

Purpose The aim of this study was to assess knowledge, self-rated confidence, and perceived relevance of genetics in the clinical practice of audiologists and speech-language pathologists (SLPs) toward a better understanding of the need for genetics education, given that genetics plays a growing role in the diagnosis of hearing impairment and communication disorders. Method A survey consisting of 8 demographic items and 16 content questions was returned by 233 audiologists and 283 SLPs. Knowledge of applied genetics was queried with clinical scenarios in a multiple-choice format. Self-assessment of clinical confidence and perceived relevance of genetics in one's field was queried with questions and statements rated on 5-point Likert scales. The benefit of additional training in genetics was rated with a yes/no question, and if answered with yes, suggested topics were entered. Results A large significant gap between confidence in one's own genetics skills and the perceived relevance of genetics was evident, regardless of professional group. Over one third of the audiologists and over two thirds of the SLPs indicated low or somewhat low confidence in their own ability to implement principles of genetics, whereas over two thirds of both groups agreed that genetics is relevant for their field. Regardless of group, confidence scores were significantly and positively associated with relevance scores. Over 80% of respondents in both groups indicated that they would benefit from additional training in genetics. Most commonly suggested topics included genetic causes, general information about genetics, and making referrals. Conclusion Both audiologists and SLPs felt that genetics is relevant for their fields and that additional training in genetics would be beneficial. Future studies should evaluate the effect of genetics training on patient outcomes and the need for incorporating genetics more extensively into audiology and speech-language pathology training programs.

Young adults\u2019 attitudes to sharing whole-genome sequencing information: a university-based survey

BackgroundGenomic services are increasingly accessible to young adults starting their independent lives with responsibility for their self-care, yet their attitudes to sharing genomic information remain under-researched. This study explored attitudes of university-based 18–25 year-olds towards sharing personal whole-genome sequencing (WGS) information with relatives.MethodsWe surveyed 112 young adults. Hypotheses were tested regarding the relationships between their preferences for sharing personal WGS information with relatives and factors including their gender, previous genetics-specific education, general educational attainment level and current study in a science, technology, engineering, maths or medicine (STEMM) field.ResultsMost participants were positive about both their intention to share their WGS results with their parents and siblings, and their desire to know their relatives’ results. Being female and having a university-level genetics education were consistently positively correlated with intention to share one’s results with parents and with siblings as well as the desire to know relatives’ results. Additionally, females who had undertaken a genetics course at university had significantly greater intentions and desires than females who had not. Lower general educational attainment was related to a lower intention to share with siblings. Participants who were in a STEMM field had a greater desire to know their relatives’ results.ConclusionsParticipants’ gender and prior genetics education were consistently related to their intentions to share WGS results with relatives and their desire to know relatives’ results. Educational attainment was found to be positively correlated with intention to share with siblings. Being in a STEMM field was related to participants’ desire to know their relatives’ results. These findings indicate that gender and genetics education are particularly important influencers on young adults’ stated sharing preferences. More research is required to examine the dependent variables studied to further understand their influence on attitudes to sharing WGS results. These findings are particularly interesting for information provision and support before genomic sequencing and post-results to improve the outcomes for individuals and their relatives.

A genetic counseling needs assessment of Mexico.

BackgroundWhile genetic counseling has expanded globally, Mexico has not adopted it as a separate profession. Given the rapid expansion of genetic and genomic services, understanding the current genetic counseling landscape in Mexico is crucial to improving healthcare outcomes.MethodsOur needs assessment strategy has two components. First, we gathered quantitative data about genetics education and medical geneticists’ geographic distribution through an exhaustive compilation of available information across several medical schools and public databases. Second, we conducted semi‐structured interviews of 19 key‐informants from 10 Mexican states remotely with digital recording and transcription.ResultsAcross 32 states, ~54% of enrolled medical students receive no medical genetics training, and only Mexico City averages at least one medical geneticist per 100,000 people. Barriers to genetic counseling services include: geographic distribution of medical geneticists, lack of access to diagnostic tools, patient health literacy and cultural beliefs, and education in medical genetics/genetic counseling. Participants reported generally positive attitudes towards a genetic counseling profession; concerns regarding a current shortage of available jobs for medical geneticists persisted.ConclusionTo create a foundation that can support a genetic counseling profession in Mexico, the clinical significance of medical genetics must be promoted nationwide. Potential approaches include: requiring medical genetics coursework, developing community genetics services, and increasing jobs for medical geneticists.