bims-tyki2d Biomed News
on Thymidine kinase 2 deficiency
Issue of 2026–10–25
six papers selected by
Zoya Panahloo, UCB
  1. Not Forgotten: Patient Experiences with Genetic Variant Reclassifications.
  2. Mitochondrial dysfunction in neurology: biomarkers and clinical implications.
  3. Perspectives on ethics, equity, and genomic data governance in Kenya: insights from the 2026 human genetics and genomics society of Kenya symposium.
  4. Transitioning from anonymous to real-name genetic testing in Japan: Implementation and implications for medical safety.
  5. Simultaneously leveraging individual- and summary-level external data in clinical trials.
  6. Do People Still Matter? Healthcare in the Age of Artificial Intelligence.
  1. Genet Med. 2026 Oct 22. pii: S1098-3600(26)01089-0. [Epub ahead of print] 102771
    Not Forgotten: Patient Experiences with Genetic Variant Reclassifications.
    Pankhuri Gupta, Min Seon Park, Eric Y Kao, Abbye E McEwen, Runjun D Kumar, Martha Horike-Pyne, Douglas M Fowler, Lea M Starita, Sarah Knerr, Andrew B Stergachis.
       PURPOSE: Genetic variant reclassification is increasingly common in clinical genomics, yet limited data describe how patients experience re-contact and variant reclassification in routine clinical care.
    METHODS: We conducted semi-structured qualitative interviews with 20 adult patients who received a variant reclassification following routine clinical genetic testing. Interviews explored emotional responses, communication experiences, and perceived value of genetic testing. Data were analyzed using Template Analysis, a form of thematic analysis.
    RESULTS: Three overarching themes were identified. Participants identified a need for improved communication of reclassified results, particularly with respect to timing, modality, and contextualization (Theme 1). Experiences with reclassification also shaped perceptions of the value of genetic testing, with most participants viewing testing as worthwhile despite its evolving nature (Theme 2). Finally, many participants interpreted reclassification as evidence of personalized and ongoing care, reinforcing trust in genetic testing and biomedical research (Theme 3). Participants generally preferred to be informed of reclassified results regardless of reclassification type, although the direction of reclassification influenced emotional responses and preferred modes of communication. Downgrades from variants of uncertain significance to benign or likely benign were widely viewed as meaningful by participants.
    CONCLUSION: Variant reclassification was experienced as a signal of personalized, ongoing care. Timely, contextualized, patient-centered re-contact practices may reduce uncertainty, strengthen trust, and help patients not feel forgotten.
    DOI:  https://doi.org/10.1016/j.gim.2026.102771
  2. Nat Rev Neurol. 2026 Oct 23.
    Mitochondrial dysfunction in neurology: biomarkers and clinical implications.
    Elena Rossini, Matteo Garibaldi, Michael G Hanna, Robert D S Pitceathly, Chiara Pizzamiglio.
      Mitochondrial dysfunction is increasingly recognized as a shared downstream pathogenic mechanism across a wide spectrum of neurological disorders, ranging from primary mitochondrial diseases to conditions including amyotrophic lateral sclerosis, Alzheimer disease, Parkinson disease, multiple sclerosis, hereditary ataxias and idiopathic inflammatory myopathies. This Review examines the role of mitochondrial biomarkers in improving diagnostic accuracy, patient stratification and monitoring of disease progression and therapeutic response. Primary mitochondrial diseases are presented as proof-of-concept models of impaired oxidative phosphorylation, providing a framework for biomarker identification and validation with translational relevance to other neurological diseases. Mitochondrial biomarkers can be broadly categorized into four domains: fluid biomarkers, reflecting metabolic alterations and stress signalling; genetic biomarkers, capturing mitochondrial DNA integrity and dynamics; multi-omics approaches, integrating transcriptomic, proteomic and metabolomic signatures; and imaging biomarkers, enabling in vivo assessment of structural and functional consequences of mitochondrial dysfunction. Across disorders, these biomarkers reveal shared disturbances in bioenergetics, redox homeostasis, mitochondrial genome maintenance and inflammatory signalling. However, clinical implementation remains limited by methodological heterogeneity, biological variability and reduced disease specificity. Integrated, multimodal biomarker strategies, combined with longitudinal validation, will be essential for supporting precision medicine and guiding the development of therapies to target mitochondrial pathways in neurology.
    DOI:  https://doi.org/10.1038/s41582-026-01274-z
  3. J Community Genet. 2026 Oct 23. pii: 131. [Epub ahead of print]17(6):
    Perspectives on ethics, equity, and genomic data governance in Kenya: insights from the 2026 human genetics and genomics society of Kenya symposium.
    Eva Aluvaala Nambati, Naomi Njuguna, Mohamed Zahir Alimohamed, Belinda Azzam, Sophie Mukwana, Sharon Ariga, Carlos Rugut, Ngure Kirosh, Sharon Githongo, Sophie Uyoga, Francis Kimani, Olga Mashedi, Eunice Githua, Fredrick Eyase, Margaret Maina, Josephat Mutuku, David Nzikali, Marion Mutugi, Wallace Bulimo.
       BACKGROUND: Kenya is at a transitional point in advancing human genomics research and its applications particularly for non-communicable diseases. While there are foundational legal and institutional infrastructures in place there are still significant governance gaps that exist that need to be addressed before large-scale human genomic research, and genomic medicine can be implemented in a responsible manner.
    METHODS: This is a report on the perspectives gathered from symposium participants attending the 2nd Human Genetics and Genomics Society of Kenya (HGGSK) symposium, held during 16th KEMRI Annual Scientific and Health Conference. It draws on narrative/ descriptive synthesis of expert speaker presentations and a structured survey completed by symposium attendees to provide insight on ethics, equity, and genomic data governance in Kenya.
    RESULTS: Most respondents 13/23 (57%) perceived that Kenya is not yet adequately prepared for the implementation of large-scale human genomics research. The primary concerns were the need for stronger genetic privacy protections, robust informed consent processes, and a national genomics policy framework. A large majority of participants 19/23 (83%) emphasized the need to strengthen genetic privacy protection, while 12/23 (52%) preferred study-specific consent over broad consent for the future use of genomic data. Overall, participants identified the development of a national human genomics policy framework as the most urgent priority to support the responsible advancement of human genomics research and its clinical implementation in Kenya.
    CONCLUSIONS: Kenya has foundational structures for human genomics research but there is a need to develop governance frameworks that will guide responsible scaling.
    Keywords:  Data governance; Equity; Ethics; Human genomics
    DOI:  https://doi.org/10.1007/s12687-026-00964-x
  4. J Community Genet. 2026 Oct 21. pii: 128. [Epub ahead of print]17(6):
    Transitioning from anonymous to real-name genetic testing in Japan: Implementation and implications for medical safety.
    Tetsuya Okazaki, Hiroki Beppu, Sakae Itoga, Toshikazu Yamaguchi, Reiko Arakawa, Miwa Arita, Sana Yokoi, Yayoi Aizawa, Tomoharu Tokutomi, Masayoshi Nakakuni, Miwa Nishida, Kazuhiro Fujita, Takahiro Yamada, Atsushi Watanabe.
       BACKGROUND: Traditionally, genetic testing in Japan has been conducted using coded or pseudonymized identifiers to protect patient privacy. However, the 2022 revision of the Japanese Association of Medical Sciences guidelines emphasized integrating genetic information into routine clinical information-management systems for patient safety. This study aimed to clarify the status and medical safety challenges associated with transitioning to real-name genetic testing in Japan.
    METHODS: A nationwide survey of 149 medical institutions was conducted, receiving 69 responses (46.3%). [Results] University hospitals reported a higher implementation rate of real-name testing (71.1%) than other institutions (41.9%, p = 0.027). Among 62 institutions with evaluable responses regarding coded/pseudonymized workflows, 8 (12.9%) reported an incident and 8 (12.9%) a near-miss. Among 66 evaluable responses regarding real-name workflows, 45 reported no safety issue, 15 no real-name outsourcing, and 6 were uncertain. Excluding the latter two categories left 45 outcome-eligible institutions; none reported an incident. The workflows were not statistically compared because eligibility, exposure opportunity, and outcome ascertainment differed. Qualitative analysis of 14 descriptions revealed vulnerabilities involving manual relinking, transcription errors, and erroneous integration of results into electronic health records. The most frequently cited barrier was the lack of readiness in testing companies' ordering systems (68.3%).
    CONCLUSION: These findings identify practical vulnerabilities in workflows requiring manual relinking but do not establish that using patient names independently reduces safety risks. Healthcare providers and testing laboratories should coordinate to standardize patient-identification and information-management procedures while maintaining confidentiality to ensure patient safety as genomic medicine enters routine clinical practice in Japan.
    Keywords:  Anonymization; Genetic testing; Guidelines for genetic testing and diagnosis in medical care; Medical safety
    DOI:  https://doi.org/10.1007/s12687-026-00961-0
  5. J Biopharm Stat. 2026 Oct 22. 1-17
    Simultaneously leveraging individual- and summary-level external data in clinical trials.
    Jinmei Chen, Yongfu Yu, Guoyou Qin.
      With the growing availability of external data (e.g., real-world data (RWD) and historical data), there is increasing interest in integrating external data into Randomized Controlled Trials (RCT), especially for rare diseases with high unmet medical needs where traditional clinical trials would be impractical and/or unethical. However, despite the increasing availability of external data, the level of detail varies across sources, as some provide individual-level patient records while others offer only aggregated summary statistics, often due to privacy and regulatory constraints. Most existing statistical methods focus on leveraging either individual-level or summary-level external data exclusively, with relatively few approaches addressing the simultaneous integration of both data types. Therefore, we propose a Bayesian method that integrates existing approaches for borrowing individual-level and summary-level external data to augment the control arm of RCT, enabling their joint use through Bayesian updating. Specifically, we combine inverse probability weighting (IPW) with Bayesian power prior for individual-level data, and the unit information prior (UIP) for summary-level data. Simulation results demonstrate that the proposed method maintains type I error control at the nominal level and improves statistical power, while remaining straightforward to implement. Its flexible structure also allows the components of the proposed method to be replaced with alternative existing methods that leverage either individual-level or summary-level external data, thereby enabling the integration of both data types to effectively synthesize external information.
    Keywords:  External data; individual-level; propensity score combined power prior; summary-level; unit information prior
    DOI:  https://doi.org/10.1080/10543406.2026.2741425
  6. Am J Lifestyle Med. 2026 Oct 16. 15598276261496843
    Do People Still Matter? Healthcare in the Age of Artificial Intelligence.
    Julie Haizlip, Katy Hall, Natalie B May.
      Artificial intelligence (AI) platforms are becoming increasingly prevalent in healthcare. Unlike previous technologies, AI has the capability to perform tasks previously considered uniquely human including synthesizing historical information and data to establish a clinical diagnosis and constructing a treatment plan. AI promises to improve diagnostic accuracy, accelerate drug discovery and development, and enhance access to healthcare. The overall impact that AI will have on the well-being of individuals who provide and receive care, however, is less obvious. This article examines the potential and pitfalls of AI in medicine through the lens of mattering and its importance to human flourishing. Mattering is a psychological construct that encompasses the human needs to be noticed, feel significant, and contribute. It arises from interpersonal interactions and is based on perceptions of our value within our communities and society. Mattering is inherently relational, is a significant contributor to psychological well-being, and may be at risk in the age of AI. The authors describe the foundations of mattering and its relevance to medicine; the potential impacts of AI on mattering in medicine from the clinician, patient, and trainee perspectives; and propose a framework for integrating AI into healthcare such that mattering is preserved for all stakeholders.
    Keywords:  artificial intelligence; artificial intelligence in medicine; clinician well-being; mattering; physician-patient relationship
    DOI:  https://doi.org/10.1177/15598276261496843
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