bims-tyki2d Biomed News
on Thymidine kinase 2 deficiency
Issue of 2026–02–08
thirteen papers selected by
Zoya Panahloo, UCB
  1. Services for Patients with Rare Genetic Diseases in Germany.
  2. Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.
  3. Expanding newborn screening through genomics.
  4. Genetic Testing and Challenges in a level IV Midwestern NICU: Who, What, When, and Then?
  5. Beyond the genome: Ethical, social and legal implications of epilepsy genetics.
  6. Mitochondrial DNA release and inflammation in mitochondrial disease pathogenesis.
  7. FPGDKG 1.0: An Integrated Facial Phenotype-Gene-Disease Knowledge Graph for Rare Disease Diagnosis and Explanation.
  8. Enhancing the evidence base in genetic counseling: A guide to conducting meta-analyses.
  9. Embedding ethics into Genomics England's Generation Study.
  10. Public and parent perspectives on genomic sequencing in newborn screening: a scoping review.
  11. Identifying the knowledge needs and preferences of parents of children with rare diseases regarding clinical trials: a scoping review protocol.
  12. Navigating direct-to-consumer genetic testing: experiences, decisions and perspectives of Dutch users.
  13. Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and education.
  1. J Community Genet. 2026 Jan 31. 17(1): 26
    Services for Patients with Rare Genetic Diseases in Germany.
    Claudia Schmidtke, Peter Kühnen, Knut Mai, Christine Mundlos, Jakob Severin Cepus, Nicole Heider, Theresa Lipp.
      
    Keywords:  Genomic medicine; National action plan; Patient pathways; Rare Disease Centers Germany
    DOI:  https://doi.org/10.1007/s12687-026-00865-z
  2. Pediatr Neurol. 2026 Jan 14. pii: S0887-8994(26)00017-2. [Epub ahead of print]177 28-45
    Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.
    Fabio Sirchia, Silvia Kalantari, Diana Carli, Mariia Zadorozhna, Francesco Bassanese, Erin Thorpe Venti, Ryan J Taft, Akanchha Kesari, Lorena Sorasio, Vincenzo Antona, Andrea Guala, Agnese Feresin, Anna Basile, Francesco Licciardi, Jessica Garau, Paolo Gasparini, Enrico Grosso, Alessandro Mussa, Giovanni Battista Ferrero, Alfredo Brusco, Elisa Giorgio.
       BACKGROUND: Many patients with rare genetic diseases remain undiagnosed or receive a molecular diagnosis only after years. In this study, we want to evaluate the usefulness of clinical genome sequencing (cGS) in a cohort of complex neuropediatric patients with undiagnosed rare genetic diseases.
    METHODS: Between 2018 and 2022, our Medical Genetics Units in Torino, Trieste and Pavia partnered with the iHope program, a philanthropic initiative by Illumina Inc., with the aim of offering family-based cGS within the Italian National Health Service (Servizio Sanitario Nazionale) diagnostic process. A multidisciplinary team of pediatricians, clinical geneticists, and molecular biologists selected 64 cases. Inclusion criteria consisted of suspicion of an ultra-rare monogenic disease and at least one negative result from a first-tier genetic test.
    RESULTS: A definitive molecular diagnosis was achieved in 57.8% of the patients. All patients and families underwent clinical re-evaluation to assess the diagnostic relevance of the laboratory findings, which led us to reclassify 10 variants of unknown significance as responsible for the probands' phenotypes. Diagnoses impacted patients' management, enabling palliative care referrals, avoiding unnecessary invasive tests, and guiding follow-up treatments.
    CONCLUSIONS: Our study confirms that the use of cGS in a rare disease setting increased the diagnostic yield even in complex cases where other methods had previously failed. We speculate that introducing cGS as first-tier test within the Italian Servizio Sanitario Nazionale might offer both diagnostic and economic advantages.
    Keywords:  Diagnostic utility; Genome sequencing; Mendelian conditions; Molecular diagnoses; Rare diseases; Undiagnosed diseases
    DOI:  https://doi.org/10.1016/j.pediatrneurol.2026.01.004
  3. J Am Assoc Nurse Pract. 2026 Feb 01. 38(2): 122-125
    Expanding newborn screening through genomics.
    Laurie M Connors.
       BACKGROUND: Newborn screening (NBS) is one of the most significant public health achievements, traditionally using biochemical and physiologic tests to detect rare but treatable conditions. The emergence of genomic sequencing technologies, including whole-genome sequencing (WGS), now offers the ability to identify thousands of variants underlying pediatric disorders. These advances create new opportunities to transform NBS but also raise important clinical, ethical, and policy challenges.
    PURPOSE: This article explores the implications of genomic NBS for advanced practice nursing, with a focus on lessons from the NIH-funded BabySeq Project and the policy precedent set by Florida's 2025 Sunshine Genetics Act, the first statewide, publicly funded WGS-NBS program in the United States.
    DISCUSSION: BabySeq demonstrated that genomic sequencing can identify actionable variants in approximately 9% of infants, yet it also exposed ethical tensions regarding disclosure of adult-onset findings and the contested concept of "family benefit." Florida's Sunshine Genetics Act expands NBS beyond the federal Recommended Uniform Screening Panel, aiming to reduce diagnostic odysseys and promote equity of access. However, unresolved issues persist, including informed consent, return of uncertain or adult-onset findings, and data stewardship. For nurse practitioners, the integration of genomic sequencing into NBS underscores new roles in parental education, consent counseling, care coordination, and long-term follow-up. Ensuring equity, cultural sensitivity, and alignment with professional guidelines will be essential to implementation.
    CONCLUSIONS: WGS in NBS has the potential to improve outcomes for children and families by enabling earlier diagnosis and intervention. Nurse practitioners, as frontline providers in primary care and pediatrics, are uniquely positioned to support families through genomic education, ethical decision making, and care navigation. Building workforce genomic competency and advocating for equitable policies are critical to realizing the promise of genomic NBS in clinical practice.
    Keywords:  Newborn screening; Nurse Practitioners; genomics; whole-genome sequencing
    DOI:  https://doi.org/10.1097/JXX.0000000000001235
  4. Am J Perinatol. 2026 Jan 30.
    Genetic Testing and Challenges in a level IV Midwestern NICU: Who, What, When, and Then?
    Hannah McBride, Jessica Scott Schwoerer, Erin Rholl, Krishna Acharya.
       OBJECTIVE: To examine genetic testing strategies and their impact on redirection of care and on reducing prognostic uncertainty in the NICU Study design: Retrospective cohort study from 2020-2021 Results: 133 out of 774 (17%) NICU infants received genetic testing, most commonly whole exome sequencing. A genetic diagnosis was achieved in 33% of cases. 70% of infants who received genetic testing were not critically ill. Decisions about redirection of care were associated with presence of critical illness and not by presence of genetic diagnosis. Many rare diagnoses were made through genetic testing in the NICU, but except for certain chromosomal anomalies, these diagnoses had wide variability in reported phenotypic presentations. Conclusions Genetic testing achieves a unifying diagnosis for many NICU patients, yet many of these diagnoses have variable clinical presentations. Redirection of care in the NICU is reliant on clinical illness severity more often than achievement of a genetic diagnosis. Clinicians must provide meaningful interpretation of genetic test results to families and be prepared to confront uncertainty even after pathogenic variants are found.
    DOI:  https://doi.org/10.1055/a-2800-4140
  5. Epilepsy Behav. 2026 Jan 31. pii: S1525-5050(26)00043-0. [Epub ahead of print]176 110922
    Beyond the genome: Ethical, social and legal implications of epilepsy genetics.
    Parthasarathy Satishchandra, Birrie Deresse, Priya Ranganath.
       PURPOSE: Epilepsy genetics is a rapidly evolving field focused on identifying new epilepsy-related genes, enhancing our understanding of the mechanisms underlying epilepsy, and developing precision medicine approaches for targeted treatments. However, genetic testing raises ethical, legal, and social issues for people with epilepsy and their families. This review summarizes the implications of genetic testing in epilepsy, focusing on the ethical dilemmas, societal impacts, and legal considerations in clinical practice. This manuscript is structured as a narrative review that integrates real-world clinical case vignettes to illustrate how ethical, social, and legal challenges arise in everyday epilepsy genetics practice. Our aim is to synthesize practical ethical considerations for clinicians working in diverse healthcare settings.
    METHODS: We conducted a narrative review of the current literature and integrated illustrative cases to examine the ethical, social, and legal dimensions of epilepsy genetics.
    RESULTS: Ethical issues in epilepsy genetic testing include ensuring informed consent, respecting autonomy, protecting confidentiality and privacy, and balancing the interests of individuals, parents, and society, particularly in the case of genetic testing for minors. Informed consent requires that patients fully understand the risks, benefits, and limitations of testing, including its potential health, emotional, and family impacts. Healthcare professionals must inform patients about the implications of genetic test results and potential risks to family members. Clear communication helps patients understand the information, encourages family discussions, and supports informed consent for disclosure. Disclosure of genetic information to family members without patient consent may be justified under certain conditions. Genetic testing for epilepsy can lead to significant social impacts, such as anxiety, stress, and depression. It may also worsen stigma, discrimination, and social isolation already associated with epilepsy. The concept of "courtesy stigma" may arise when epilepsy is perceived as a hereditary condition, leading to stigma extending beyond the affected individual to their family members. Genetic test results could be used to discriminate against individuals in employment or insurance settings. Genetic testing for epilepsy raises ethical concerns grounded in the principle of justice, particularly equitable access to testing, which may subsequently require legal and policy interventions.
    CONCLUSION: While genetic testing for epilepsy offers substantial benefits for improving treatment and enabling early intervention, it also raises significant ethical, legal, and social challenges for individuals with epilepsy and their families. Robust legal and ethical frameworks are essential to protect patient rights and to maximize the benefits of genetic testing while minimizing potential harms. Addressing these emerging issues requires collaboration among policymakers, healthcare professionals, and genetic counsellors. A coordinated policy response-led by professional bodies such as the International League Against Epilepsy (ILAE) and the International Bureau for Epilepsy (IBE), in partnership with national governments and epilepsy associations-is crucial for promoting ethical standards, equitable access, and culturally appropriate practices.
    Keywords:  Discrimination; Epilepsy; Ethical issues; Genetic testing; Stigma
    DOI:  https://doi.org/10.1016/j.yebeh.2026.110922
  6. Brain. 2026 Feb 02. pii: awag037. [Epub ahead of print]
    Mitochondrial DNA release and inflammation in mitochondrial disease pathogenesis.
    Marton Szabo, Daniel Lagos, Emily Cross, Jack Collier, Rita Horvath.
      Primary mitochondrial diseases (PMDs) affect ∼1 in 4,300 individuals, yet mitochondrial dysfunction is also a hallmark of common inherited and acquired disorders. While advances in genomics now allow molecular diagnosis in 30-60% of mitochondrial diseases, treatment remains largely supportive, leading to progressive disability and early mortality. Despite progress in gene-modifying approaches, no approved therapies exist for the majority of mitochondrial diseases, and none of the recent trials have met their primary endpoints, underlining the urgent need for innovative therapeutic strategies. Patients with PMDs have very variable phenotypes, further complicated by increased susceptibility to infections, chronic inflammation and metabolic abnormalities. Recently, it has become evident that certain mitochondrial pathologies, including the loss of mitochondrial membrane integrity, impaired mtDNA maintenance, quality control defects, or respiratory chain defects, result in the release of mtDNA into the cytosol. Infections or metabolic changes also trigger the release of mtDNA, leading to the activation of a sterile innate immune response and interferon signalling. Free mtDNA acts as a pathogen-associated molecular pattern (PAMP), activating innate immune pathways such as the cGAS-STING axis, initiating a sterile inflammatory response. This can be followed by the extracellular release of mtDNA to convey the inflammatory response systemically to communicate between cells or across organs. However, it is unclear whether these pathways worsen the disease phenotype (hyperinflammatory reaction) or, in contrast, rescue the symptoms due to upregulation of compensatory pathways. In this review, we summarise recent advances in understanding the mechanism of mtDNA release and how it activates innate immune signalling in PMDs. We also discuss the implications for pathogenesis, clinical phenotypes, and therapeutic development. Defining the role of circulating mitochondrial material as a biomarker or therapeutic target is a critical step for precision medicine approaches in PMDs. These pathways may also have wider implications for common metabolic, inflammatory, and neurodegenerative disorders with mitochondrial dysfunction.
    Keywords:  mitochondria derived vesicles (MDVs); mtDNA; mtDNA release, primary mitochondrial diseases (PMD); pathogen-associated molecular patterns (PAMPs); sterile-inflammation
    DOI:  https://doi.org/10.1093/brain/awag037
  7. IEEE J Biomed Health Inform. 2026 Feb 03. PP
    FPGDKG 1.0: An Integrated Facial Phenotype-Gene-Disease Knowledge Graph for Rare Disease Diagnosis and Explanation.
    Mengqiao He, Jie Song, Shumin Ren, Yuxin Zhang, Jiale Du, Jinhua Feng, Rongrong Wu, Bairong Shen.
      Rare diseases pose significant diagnostic challenges due to their low prevalence, limited clinical awareness, and pronounced phenotypic heterogeneity. Early and accurate diagnosis is essential but remains difficult, especially in resource-limited settings where comprehensive genetic testing is unavailable. Distinctive facial phenotypes can offer accessible diagnostic clues, yet overlapping features and broad phenotypic spectra often hinder precise identification. To address these challenges, we present the Facial Phenotype-Gene-Disease Knowledge Graph (FPGDKG), a unified resource integrating multi-source data on facial phenotypes, genes, and diseases. The knowledge graph comprises 23,096 nodes and 239,236 relationships. We demonstrate the utility of FPGDKG through three representative use cases: (1) phenotype-based automated diagnosis of rare diseases using machine learning models; (2) explainable diagnosis by jointly presenting phenotype, genotype, and literature evidence for each prediction. The accuracies of the presented evidence, as validated quantitatively, are 73.67$\%$ for phenotype, 59.57$\%$ for gene, and 90.59$\%$ for literature evidence; (3) embedding-based matching to support differential diagnosis for ultra-rare diseases. To facilitate clinical use and research, we also developed an interactive online platform that offers intuitive visualization, information retrieval, and explainable decision support (http://bioinf.org.cn:8060/). Through three representative use cases, we show that FPGDKG supports promising diagnostic performance and enhances explainability by providing multi-dimensional evidence, making it a valuable tool for transparent, data-driven rare disease diagnosis.
    DOI:  https://doi.org/10.1109/JBHI.2026.3659898
  8. J Genet Couns. 2026 Feb;35(1): e70162
    Enhancing the evidence base in genetic counseling: A guide to conducting meta-analyses.
    Andrada Ciuca, Sebastian Pintea, Tara Clancy, Ramona Moldovan.
      Genetic counseling plays an important role in supporting individuals and families in understanding and adapting to the clinical and/or psychological implications of genetic contribution to a condition. With the rapid expansion of genomic testing and the integration of genetic services across specialties, there is a growing demand for genetic counseling; this means that evidence supporting its effectiveness is essential. Demonstrating the efficacy of genetic counseling remains challenging due to methodological variability across studies, including diverse study designs, small sample sizes, various delivery models, and multiple measures of success. A meta-analysis is a statistical technique that combines results from multiple studies to provide more precise estimates of effect sizes and uncover patterns that may not be evident through individual studies. This article explores the role of meta-analyses in genetic counseling, highlighting their utility to synthesize evidence from complex interventions, heterogeneous research designs, and disparate outcomes. The article provides introductory methodological guidance for researchers, drawing on established best practices such as PRISMA and the Cochrane Handbook, and provides an overview of each step in conducting a meta-analysis tailored to genetic counseling. The article includes a review of existing meta-analyses in genetic counseling, highlights key findings, and provides an overview of methodological particularities. It advocates for the development of core outcome sets (COS) to enhance standardization, as well as greater methodological rigor and transparency in future research. Training in meta-analytic methods, improved reporting practices, and a genetic counseling specific framework for meta-analyses and systematic reviews is also discussed. This article supports an increased use of meta-analyses as a tool for advancing genetic counseling research by generating more synthesized results from individual studies that can help guide clinical practice, training, and policy development.
    Keywords:  evidence‐based practice; genetic counseling; meta‐analysis
    DOI:  https://doi.org/10.1002/jgc4.70162
  9. BMJ Open. 2026 Feb 02. 16(2): e112134
    Embedding ethics into Genomics England's Generation Study.
    Harriet Etheredge, Natalie Banner, Meekai To, Amanda Pichini, Joanna Ziff, Mathilde Leblond, Alice Tuff-Lacey, Richard Scott, Ellen Thomas.
      The Generation Study is a large-scale research initiative led by Genomics England in partnership with the National Health Service, aiming to evaluate the use of whole genome sequencing in newborn screening, as well as ongoing research use of these genomic data. The Generation Study will sequence 100 000 newborn genomes in England to potentially identify approximately 200 rare and treatable conditions. This paper outlines the study's approach to embedding ethics from inception through implementation. A model of 'ethical embeddedness' that emphasises transparency, trustworthiness and responsiveness to uncertainty is utilised. Drawing on the deliberations of a multidisciplinary Ethics Working Group, public dialogue findings and design research, the paper presents key decisions and our approach to complex ethical challenges including consent, potential impact of the study on clinical services and navigating uncertainty. The paper also reflects on the ethical tensions inherent in balancing research ambitions with operational realities, particularly in a context of evolving genomic science and sometimes limited regulatory clarity. By embedding ethics into the study's design and delivery, we hope to foster public trust and inform future policy and practice.
    Keywords:  Genomic Medicine; MEDICAL ETHICS; Mass Screening
    DOI:  https://doi.org/10.1136/bmjopen-2025-112134
  10. Eur J Hum Genet. 2026 Feb 06.
    Public and parent perspectives on genomic sequencing in newborn screening: a scoping review.
    Saskia G Smits, Suzanne M Onstwedder, Tessel Rigter, Wendy Rodenburg, Lidewij Henneman.
      Newborn screening (NBS) aims to identify rare but treatable conditions in newborns to offer early interventions. The possibilities of genomic sequencing are being researched to further strengthen NBS. This scoping review explores public and parent perspectives on genomic sequencing in NBS. We performed a literature search in Embase and Psych-abs databases to find relevant articles from 2005 until August 2024. Twenty-seven articles describing 20 studies from 7 countries were included, mostly describing survey studies. The public and parents reported a positive interest in genomic sequencing in NBS, but were overall more willing to participate in standard NBS compared to genomic NBS. Respondents' perceived benefits of genomic NBS included increased health gain for newborns, preparedness for parents and their child, enabling family planning, and benefits for other family members and population health. Most perceived concerns related to the storage and privacy of genomic sequencing data, fear of insurance discrimination, and psychological worries as a result of genomic sequencing test results. Articles reported limited public concerns regarding test accuracy or the possibility of receiving uncertain results. Preferences on how genomic sequencing should be offered were mentioned regarding decision-making and informed consent, result delivery, data storage, and program offer and costs. In conclusion, the public and parents seem generally supportive of genomic sequencing in NBS. However, to uphold support and participation comparable with current NBS programs, arguments and beliefs of the public and parents should be further explored if genomic sequencing is to be successfully implemented into or alongside NBS programs.
    DOI:  https://doi.org/10.1038/s41431-026-02024-x
  11. Syst Rev. 2026 Feb 05.
    Identifying the knowledge needs and preferences of parents of children with rare diseases regarding clinical trials: a scoping review protocol.
    Annie P Mabbott, Lisa Knisley, Shannon D Scott.
       BACKGROUND: Rare diseases (i.e., incidence of <1/2000) are individually uncommon, but collectively these 10,000 conditions affect an estimated 473 million people globally, and approximately 70% of rare diseases manifest in childhood. Despite this global impact, 90% of rare diseases lack effective treatment. Treatments for rare diseases are often identified through clinical trials. Identifying parents' knowledge needs and preferences regarding pediatric rare disease clinical trials is an important aspect of empowering parents, improving clinical research practices, and potentially improving recruitment to these vital trials. The aim of the scoping review is to determine the extent, range, and characteristics of the evidence on the knowledge needs and preferences of parents regarding pediatric rare disease clinical trials.
    METHODS: A scoping review will be conducted to identify sources of literature on the topic. A systematic search strategy co-developed with a research librarian will be conducted in six databases (Medline, EMBASE, CINAHL, Scopus, Web of Science, and PsycINFO). Gray literature will be searched via Google, Perplexity AI, the ProQuest Dissertations & Theses Global database, and relevant rare disease organizational websites. Abstract and full-text screening will be conducted by two reviewers independently. Studies in English will be included regardless of study design, date of publication, or location of study/publication. Study quality will be appraised using the Mixed Methods Appraisal Tool. Data will be extracted including study characteristics, population, phenomena under investigation, and knowledge needs and preferences identified. Analysis will involve a descriptive numerical summary and qualitative content analysis. Findings will be presented in evidence tables, and patterns, themes, and gaps across the data will be reported using a narrative approach.
    DISCUSSION: This review will provide an overview of the existing literature regarding parents' knowledge needs and preferences about pediatric rare disease clinical trials. The findings of this review will inform future research and the development of knowledge translation resources for parents of children with rare diseases.
    SYSTEMATIC REVIEW REGISTRATION: This protocol has been registered in Open Science Framework (registration: https://doi.org/10.17605/OSF.IO/QXR8G).
    Keywords:  Clinical trials; Information needs; Knowledge needs; Knowledge translation; Parents; Pediatrics; Rare disease; Scoping review
    DOI:  https://doi.org/10.1186/s13643-026-03094-0
  12. Eur J Hum Genet. 2026 Feb 04.
    Navigating direct-to-consumer genetic testing: experiences, decisions and perspectives of Dutch users.
    Danny Bruins, Esther A M Bührman, Martina C Cornel, Marc H W van Mil, Margreet G E M Ausems, Olga C Damman, Tessel Rigter.
      Insights into the perspectives, decision-making and experiences of non-US consumers regarding health-related direct-to-consumer genetic testing (DTC-GT) are currently lacking. These insights are essential to allow the implementation of consumer-tailored approaches that facilitate responsible use of DTC-GT. To fill this knowledge gap, the present study employed interviews to examine the consumer journeys of twenty Dutch health-related DTC-GT consumers. Overall, participants appeared quite satisfied with their DTC-GT consumer journeys. Participants' initial contacts with DTC-GT, as well as their pre-test information acquisition, occurred via a diversity of sources. Participants' pre-test expectations revealed considerable presumed clinical utility of DTC-GT. Feeling unheard within the regular healthcare system supported multiple participants' decisions to undergo health-related DTC-GT. Participants mentioned a modifying effect of price on their decision-making, and several participants stated not having considered potential negative consequences of DTC-GT prior to DTC-GT usage. Several potentially adverse consequences of undergoing DTC-GT were identified that could affect individual consumers, the regular healthcare system, and society as a whole. Three considerations to potentially stimulate responsible use of DTC-GT aligning with participants' needs and preferences were derived, namely improving pre-test information provision, implementing adequate post-test support systems for consumers, and development, implementation and enforcement of cross-border regulation and legislation. Based on these findings, we advocate for stakeholder discussions to further explore the feasibility and desirability of translating these considerations into deliverables. Ultimately, these deliverables could aid in empowering (potential) consumers for responsible use of health-related DTC-GT.
    DOI:  https://doi.org/10.1038/s41431-026-02022-z
  13. Am J Hum Genet. 2026 Feb 04. pii: S0002-9297(26)00031-5. [Epub ahead of print]
    Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and education.
    Amy Nisselle, Douglas Liddicoat, Corrina Cliffe, Lyndon Gallacher, Melissa Martyn, Jan Hodgson, Naomi L Baker, Victoria Beshay, Miriam Fanjul-Fernandez, Andrew P Fellowes, Sebastian Lunke, Dean G Phelan, Ain Roesley, Zornitza Stark, Tiong Yang Tan, Bryony Thompson, Clara L Gaff, Natalie Thorne.
      Genomic medicine is increasingly being integrated into healthcare systems worldwide, requiring a skilled genomic workforce. Variant interpretation (VI) is crucial to genomic testing, yet there are no agreed professional competencies in VI, career pathways are ill-defined for some professions, and there is limited literature on educational needs and programs. We referenced education theory and curricula from nascent local VI training activities to co-develop learning outcomes in VI with content experts that informed scalable continuing education activities, evaluated using longitudinal cross-sectional surveys. We defined 16 learning outcomes in VI covering fundamental genetics and bioinformatics theory and the stages of variant identification, curation, and classification. The education program included options for self-directed online learning or blended learning (online pre-reading plus workshops). Program reach was 951 individuals (49.2% scientists and 27.8% clinicians). At completion, the majority reported increased understanding of learning outcomes (96.1%, 171/178) and increased confidence in the processes of VI (93.3%, 166/178). The majority (91.7%, 231/252) indicated that the learnings would impact their professional role. Our education program was effective at developing entry-level proficiency in VI across different professions. The learning outcomes can inform multiple aspects of VI education and training programs, including defining the desired level of mastery and program content and aligning evaluation measures. They also provide a basis for an educational framework to inform competencies in VI across multiple professions and for career benchmarking more broadly.
    Keywords:  competencies; education; evaluation; genomic medicine; implementation; learning outcomes; medical scientist; variant curator; variant interpretation; workforce
    DOI:  https://doi.org/10.1016/j.ajhg.2026.01.009
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