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An Assessment of Genetics Providers’ Attitudes and Expectations for a Reverse Phenotyping Clinical Decision Aid
No full textThis study aimed to assess the attitudes of genetics providers regarding a clinical decision aid designed to assist in genetic diagnosis of rare pediatric disease. User experience, expectations, and opinions were investigated related to clinical decision and AI-driven software in healthcare diagnostics. Six participants employed at Montefiore Medical Center, who have experience ordering whole genome sequencing, were selected to participate in a semi-structured interview assessing their opinions and expectations for a clinical decision aid, GenomeDiver, designed to improve lab-clinician communication. Responses were assessed via manifest and latent content analysis, which was mutually reviewed for coder consensus. While all participants believed GenomeDiver could be helpful for genetic diagnostics, particularly in the case of complex patient presentations or variants of uncertain significance, they expressed concern about the risk of misinterpretation by untrained individuals, risk to patient-provider relationships, and the logistics of setting up and using the tool in a clinical setting. The results of our study highlight important considerations to be made in the development of software designed to improve diagnosis through genetic testing and help providers harness the power of “big data” in genomic diagnostics
Perceptions of Hyflex in Genetic Counseling Training
Full text linkThe COVID-19 pandemic necessitated rapid shifts in educational methodologies, notably the adoption of the Hybrid-Flexible (HyFlex) model in higher education. This model combines in-person, real-time online, and recorded class participation options, offering students multiple modes of participation that cater to diverse needs and preferences. This study investigates the perceptions and experiences of genetic counseling students regarding the HyFlex model to understand its implications on educational outcomes and student well-being. A qualitative study was conducted with 30 participants from the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College who experienced the HyFlex model between 2020 and 2024. Data were collected through semi-structured interviews and analyzed using thematic analysis with the aid of Dedoose software. The study identified three major themes: Implementation and Experience of the HyFlex Model, Student Adaptation and Engagement, and Educational Outcomes and Student Well-Being. Key findings highlight the model\u27s flexibility and adaptability to individual student needs but also reveal challenges in maintaining social connectivity and ensuring consistent technological integration. The study also gathered feedback and recommendations from both current and previous students to inform future enhancements to the HyFlex model. These contributions emphasized the need for improved communication strategies, enhanced technological support, and more inclusive community-building efforts. The HyFlex model demonstrated significant potential in accommodating diverse student needs by providing various participatory options. However, it also presented challenges in social interaction and technological efficacy. These findings suggest that while the HyFlex model can enhance educational accessibility, robust technological support and strategic interventions are crucial to foster community and enhance engagement to fully realize its benefits
Active-Duty U.S. Army Soldiers’ Awareness and Opinions of Mandatory Sickle Cell Trait Screening
No full textThe U.S. Army’s sickle cell trait (SCT) screening program, as mandated by the DHA and DOD, aims to protect Soldiers from exertional SCT-related events, given the increased risk for heat injury, rhabdomyolysis, and death associated with SCT. However, whether Soldiers are knowledgeable of and/or support the Army’s mandatory SCT screening program remains unknown. Thus, the purpose of this study was to examine the awareness and opinions of Soldiers regarding the Army’s SCT testing program. An anonymous online survey evaluating Soldiers’ demographics, general genetics and SCT knowledge, and familiarity with and support for the mandatory SCT screening program collected responses from active-duty Army Soldiers from October 2023 through February 2024. Of the 42 responses analyzed, the majority of participants (52.4%) were not aware of receiving SCT testing by the Army. Despite this lack of awareness, the majority (52.4%) of participants supported mandatory SCT testing for all Soldiers regardless of MOS or race/ethnicity, and participants with higher genetic knowledge scores were more likely to support broad testing (
Introducing Neurodiversity-Affirming Practices Into Early Elementary School Classrooms
No full textNeurodiversity refers to every individual having a unique neurological makeup. It is a concept that acknowledges and respects the profile of every person as an individual. A neurodiversity-affirming practice builds on every individual’s strengths and adjusts environments to support the development of those strengths. Applying this concept to schools could mean educating teachers, students, and their families to consider the profiles of all children in a classroom in order to create productive learning environments that empower every child to learn with purpose and confidence. The vast majority of classrooms today are not neurodiversity-affirming. In this paper, I will explain why that is, why it matters, and how we can get there.
The research in this paper surfaces key topics that should be considered in the development of neurodiversity-affirming classroom practices. I interviewed neurodivergent (ND) young adults about their experiences in elementary school, including their learning styles, diagnoses as appropriate (e.g., Attention Deficit/Hyperactivity Disorder (ADHD), Autism Spectrum Disorder (ASD), Sensory Processing Disorder, Learning Disorders), academic performance, and relationships with peers, teachers, and family. I also interviewed educators who have worked in elementary schools about their perspectives on neurodiversity, both as a concept for children to understand and its influence on school policies and classroom practices.
The thematic analysis that follows surfaces common themes and responses to closed-ended questions. The discussion then breaks down the theoretical concept of neurodiversity-affirming practices into actionable and digestible topic areas that can be used to develop programming for elementary school students. This project is meant to be a first step in a collaborative process with neurodivergent teachers and young adults. Together we will develop a turn-key program or curriculum that could be brought into elementary schools—and led by neurodivergent adults—to introduce neurodiversity-affirming classroom practices to students, teachers, administrators, clinicians, and families in a way that makes long-term adoption of these practices accessible and practical
