bims-curels 2026-07-05 papers

bims-curels

Biomed News

on Leigh syndrome

Issue of 2026–07–05
sixteen papers selected by
Cure Mito Foundation

[Mitochondrial diseases].
The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease.
[Is it possible to generate artificial mitochondrial genome?]
The CARE Program: An Initiative of Patient-Focused Drug Development for Rare Diseases by NMPA.
A neuronal model of mtDNA disease reveals an ineffective reprogramming of the electron transfer chain during neuronal maturation.
Analysis of whole-exome sequencing data from nearly 10,000 Iranian individuals: identification of recessive mitochondrial disease variants and proposal of a population-specific carrier screening panel.
The landscape of artificial intelligence in neurodegenerative diseases: a systematic review.
Concurrence of Inherited Nuclear and Mitochondrial DNA Optic Neuropathies.
Multi-platform reassessment of human mitochondrial DNA methylation reveals signals consistent with technical artifacts.
Adaptive immunity in the pathogenesis of neurodegeneration.
Lived Experiences of Patients With Rare Diseases and Healthcare System Barriers: A Phenomenological Study.
Ethics of not knowing who we are talking to in qualitative research.
Misaligned Expectations: Motivations of Medically Underserved People to Enroll in the All of Us Research Program.
Improving Communication Skills in Medical Practice: A Narrative Review.
Primary and secondary patient participation - a qualitative study of healthcare professionals' perceptions and experiences.
Are Traditional Registries Becoming Obsolete in the Modern Digital Health Ecosystem?

Ugeskr Laeger. 2026 Jun 22. pii: V10250820. [Epub ahead of print]188(26):

[Mitochondrial diseases].

Simone Rask Nielsen, Elsebeth Østergaard, John Vissing, Anja Lisbeth Frederiksen.

Mitochondrial diseases are complex conditions that can affect many organs, and patients may be seen by doctors from various clinical specialities. Currently, treatments are primarily supportive; however, this review finds that identifying the underlying genetic cause is becoming increasingly important as new targeted therapies are under development. Additionally, recent advances in reproductive technologies, such as pre-implantation testing and mitochondrial replacement therapy, may offer additional options for affected patients.

DOI: https://doi.org/10.61409/V10250820
medRxiv. 2026 Jun 15. pii: 2026.06.12.26355546. [Epub ahead of print]

The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease.

Johan L K Van Hove, Marisa W Friederich, Roxanne A Van Hove, Jessica C Lee, Kaz M Knight, Tonia E Donovan, Lori Silveira, Rebecca D Ganetzky, Michio Hirano, Jose Abdenur, Merlin G Butler, David Cassiman, Bruce H Cohen, Sarah H Elsea, Gregory M Enns, William A Gahl, Ralitza Gavrilova, Gabrielle C Geddes, Emma E Glamuzina, Amy Goldstein, Richard H Haas, Aneal Khan, Kimberly A Kripps, Austin A Larson, April N Lehman, Uta Lichter-Konecki, Johannes A Mayr, Eva Morava, James T Peterson, Jill A Rosenfeld, Russell P Saneto, Fernando Scaglia, Emily Shelkowitz, Mariella Simon, Joél E G Smet, Wendy E Smith, Claudia Soler-Alfonso, Mark Tarnopolsky, Rudy N A Van Coster, Arnaud V Vanlander, Pieter Vermeersch, Jerry Vockley, Kristen Wigby, Lynne A Wolfe, Saskia B Wortmann, Jennifer H Yang.

Genome sequencing of the heterogeneous primary mitochondrial disorders (PMD) frequently reveals variants of uncertain significance that require functional tests for diagnosis, and does not identify variants in all patients. We analyzed mitochondrial enzyme assays, blue native polyacrylamide gel electrophoresis (BN-PAGE) with in-gel activity staining, complex I assembly blot, and select protein abundances in fibroblasts of a case series of 204 PMD patients divided into functional classes, in comparison to 51 controls and 53 differential diagnostic conditions. Overall, sensitivity and specificity for respiratory chain enzyme assays were 46% and 93% respectively, for BN-PAGE 40% and 98%, for complex I assembly assay 49% and 99%. The overall sensitivity of all tests was 76%, specificity 93%, with positive predictive value 96% and negative predictive value 67%. Categories with high sensitivity were isolated complex deficiencies, nuclear DNA-encoded mitochondrial protein synthesis defects, co-factor defects, and mitochondrial amino-acyl-tRNA synthetase conditions when aided by protein abundance. Mitochondrial DNA mutations and maintenance disorders showed poor sensitivities. Secondary dysfunctions were rare. A complete battery of functional tests showed strong diagnostic clinical utility in fibroblasts.
One sentence summary: A combination of four mitochondrial functional tests to identify or confirm suspected primary mitochondrial disease in fibroblasts had good sensitivity and excellent specificity, well beyond what was perceived using enzyme assays only.

DOI: https://doi.org/10.64898/2026.06.12.26355546
Nihon Yakurigaku Zasshi. 2026 ;161(4): 216-221

[Is it possible to generate artificial mitochondrial genome?]

Ken-Ichi Wada.

The mitochondrial genome (mtDNA) is a circular DNA of approximately 16.5 kbp, present at several thousand copies per cell. Although mtDNA is extremely small compared with the nuclear genome, it is quite important for life system because it encodes components essential for ATP production through oxidative phosphorylation. Since mtDNA mutations are thought to be implicated in a wide range of diseases, gene therapies targeting mtDNA are expected to provide promising treatment options for such disorders; however, current methods allow only limited manipulation of mtDNA. In this article, our recent efforts toward establishing mtDNA writing, a technology that would enable unrestricted and precise manipulation of mtDNA, are introduced. We hypothesized that creation of specialized host cells that preferentially accept exogenous mtDNA would be the key to achieving mtDNA writing. We named such host cells "e-mt cells" and assumed that cells maintaining a deviated type of mtDNA in a homoplasmic state could function as e-mt cells. To create e-mt cells, we developed a novel mitochondrial transfer method using a microfluidic device. This microfluidic device allowed direct and non-invasive mitochondrial transfer between live single cells by fusing them through a micro aperture (microslit/microtunnel). Furthermore, we successfully demonstrated single-mitochondrion transfer as well as cybrid generation via mitochondrial transfer into ρ0 cells. These findings suggest that the microfluidic device has the potential to achieve homoplasmic mtDNA modification through mtDNA cloning and is therefore expected to contribute to the creation of e-mt cells.

DOI: https://doi.org/10.1254/fpj.25090
Ther Innov Regul Sci. 2026 Jun 27.

The CARE Program: An Initiative of Patient-Focused Drug Development for Rare Diseases by NMPA.

Ling Tang, Songmei Xie, Lijia Yuan, Xiaowen Xu, Xing Ai, Tian Zhao, Zhimin Yang.

  "Patient-focused drug development" emphasizes multi-stakeholder collaboration and advocates for in-depth listening to patients' opinions to facilitate all stages of drug development. In the field of rare disease drug development, implementing the concept of "patient-centered" drug development, focusing on patients' perspectives, and heeding patients' voices will serve as an effective approach for pharmaceutical companies, researchers, and regulatory authorities to gain a deeper understanding of rare diseases and patients' needs, thereby enhancing the precision and efficiency of rare disease drug development. The "Care Program" is a pilot program launched by the Center for Drug Evaluation, NMPA focusing on rare diseases. Its aim is to guide pharmaceutical companies to incorporate the perspectives of rare disease patients throughout the entire drug development process and improve the scientific rigor and standardization of integrating patients' voices into the clinical development of rare disease drugs. The launch of the "Care Program" is expected to accumulate valuable experience for future regulatory work and drug development efforts.

Keywords:  Care program; NMPA; Patient-focused drug development; Rare disease; Regulatory science

DOI:  https://doi.org/10.1007/s43441-026-01005-y
Mitochondrion. 2026 Jun 27. pii: S1567-7249(26)00080-2. [Epub ahead of print]91 102190

A neuronal model of mtDNA disease reveals an ineffective reprogramming of the electron transfer chain during neuronal maturation.

Shane Thomas Bell, Rebeca Acín-Pérez, Iffath Ghouri, Jon Meyrick, Robert Lightowlers, Oliver Russell.

  Large-scale mitochondrial DNA (mtDNA) deletions can result in deficiency of oxidative phosphorylation and subsequent mitochondrial dysfunction, ultimately leading to mitochondrial disease. To investigate effective treatments, we report a characterised heteroplasmic iPSC-derived neuronal model with a single, large scale ∼6 kb mtDNA deletion. While mtDNA heteroplasmy remains stable during iNGN2-induced neuronal differentiation from iPSCs, the presence of this mtDNA deletion results in an upregulation of mtDNA copy number and compensatory adaptation of oxidative phosphorylation (OXPHOS) machinery. Despite this increase, mitochondrial dysfunction and reduced oxygen consumption is prevalent. Furthermore, as differentiated neurons mature over time, mitochondrial supercomplexes and isolated complex II diminish, suggesting an increase of severity of the mitochondrial dysfunction. In summary, this study provides insight into a novel compensatory mechanism during iPSC differentiation to bypass mitochondrial dysfunction, and how this response exacerbates dysfunction during culture of mature neurons.

Keywords:  Complex II; Copy number; Mitochondrial DNA (mtDNA); Mitochondrial dysfunction; Mitochondrial supercomplexes; iPSC-derived neurons

DOI:  https://doi.org/10.1016/j.mito.2026.102190
Hum Genomics. 2026 Jun 30.

Analysis of whole-exome sequencing data from nearly 10,000 Iranian individuals: identification of recessive mitochondrial disease variants and proposal of a population-specific carrier screening panel.

Mohadeseh Fathi, Parvaneh Karimzadeh, Farzad Ahmadabadi, Damoun Nashta Ali, Narjes Jafari, Raheleh Tangestani, Shadab Salehpour, Toktam Moosavian, Soudeh Ghafouri-Fard, Mohammad Miryounesi.

   BACKGROUND: Mitochondrial diseases, often stemming from recessive nuclear gene mutations, represent a heterogeneous group of disorders with significant morbidity and mortality. Carrier screening for these conditions is population-specific, yet data on the pathogenic variant burden in the Iranian population remain limited. This study aimed to analyze whole-exome sequencing (WES) data from 9989 Iranian individuals to identify the spectrum and frequency of recessive mitochondrial disease variants and to develop a population-specific carrier screening panel.
METHODS: We analyzed WES data from 9989 unrelated Iranian individuals. Variants in 1,564 nuclear genes associated with mitochondrial function were filtered for rarity (minor allele frequency < 0.01 in public databases), predicted pathogenicity, and recessive inheritance patterns (homozygous or compound heterozygous). Clinically relevant variants were manually curated, and carrier frequencies for significant recessive mitochondrial conditions were calculated.
RESULTS: Our analysis identified variants across 15 groups of mitochondrial-related nuclear genes in 345 individuals recognized as carriers. Of these, 123 variants (35.6%) were classified as Pathogenic, and 154 variants (44.6%) were classified as Likely Pathogenic according to ACMG guidelines.
CONCLUSIONS: This study provides the first large-scale WES-derived assessment of recessive mitochondrial disease carrier burden in the Iranian population. The high estimated carrier rate supports implementing population-specific preconception screening. The results of this study can be used for design of targeted panels of nuclear mitochondrial genes to identify at-risk couples, facilitating genetic counseling and reproductive decision-making in Iran.

Keywords:  Carrier frequency; Mitochondrial disorders; Whole exome sequencing

DOI:  https://doi.org/10.1186/s40246-026-01011-z
Commun Med (Lond). 2026 Jul 03.

The landscape of artificial intelligence in neurodegenerative diseases: a systematic review.

Walter Endrizzi, Flavio Ragni, Stefano Bovo, Avinash Chandra, Monica Moroni, Giuseppe Jurman, Venet Osmani.

BACKGROUND: The rising global burden of neurodegenerative diseases underscores an urgent need for advanced research in diagnosis, prognosis, and treatment. Artificial Intelligence (AI) methods, particularly when applied to multimodal data, offer a powerful tool to address these challenges. However, a comprehensive overview and critique of the current landscape of AI methods is lacking.
METHODS: 4,685 records of peer-reviewed, primary research articles were screened and 1,956 articles reviewed in full text, yielding 1,186 included studies. For each included study, clinical objectives, disease focus, data modalities, modelling approach, evaluation strategy, and reporting practices were extracted.
RESULTS: Fewer than 5% of studies integrated pharmacological treatments into their predictive models, limiting the extent to which models can directly inform clinical decision-making. Neuroimaging was the predominant input modality, while integration of other clinically relevant data types was relatively rare. Reproducibility rates remain critically low at 35%, and external validation practices fail to use geographically and demographically diverse datasets.
CONCLUSIONS: Overall, AI research in neurodegenerative diseases suffers from significant limitations in reproducibility, data inclusivity, and clinical translatability. We provide a set of recommendations that can be adopted to address these issues and improve reliability and downstream clinical utility.

DOI: https://doi.org/10.1038/s43856-026-01669-5
J Neuroophthalmol. 2026 Jul 02.

Concurrence of Inherited Nuclear and Mitochondrial DNA Optic Neuropathies.

Benson S Chen, Benjamin I Meyer, Nancy J Newman.

DOI: https://doi.org/10.1097/WNO.0000000000002466
bioRxiv. 2026 Jun 15. pii: 2026.06.10.730935. [Epub ahead of print]

Multi-platform reassessment of human mitochondrial DNA methylation reveals signals consistent with technical artifacts.

Salman Basrai, Alexander T Bahcheli, Djarren Tan, Philip C Zuzarte, Andrea Bevan, Theodore Chan, Kristie Ng, Bernard Lam, Andrea Arruda, Sunit Das, Mark D Minden, Jared T Simpson, Jüri Reimand, Sagi Abelson.

The existence and functional relevance of mitochondrial DNA methylation remain controversial. Here, we systematically profiled cytosine methylation and hydroxymethylation across human brain and blood tissues spanning healthy and malignant states using orthogonal sequencing approaches that avoid chemical conversion during library preparation. While nuclear DNA exhibited canonical methylation patterns, mitochondrial DNA consistently showed negligible signal, indistinguishable from background technical noise. By mapping cytosine-guanine sites between mitochondrial DNA and nuclear-embedded mitochondrial sequences, we demonstrate the potential of these nuclear counterparts to confound not only cytosine methylation but also hydroxymethylation measurements, corroborating and extending prior findings implicating nuclear contamination as a potential source of apparent mitochondrial epigenetic signals. Additional technical factors that inflate apparent mtDNA methylation signals were identified, including sequence context biases, flow cell chemistries, and coverage-dependent discrepancies between the heavy and light strands. Collectively, these results provide convergent evidence against the presence of biologically meaningful cytosine methylation or hydroxymethylation in mitochondrial DNA. These findings caution against interpreting apparent mtDNA methylation signals in human adult tissues as meaningful without rigorous orthogonal validation and comprehensive consideration of technical and analytical confounding factors.

DOI: https://doi.org/10.64898/2026.06.10.730935
Nat Immunol. 2026 Jul;27(7): 1375-1389

Adaptive immunity in the pathogenesis of neurodegeneration.

Yongyi Li, Jason D Ulrich, David M Holtzman.

Neurodegenerative diseases, including Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis and others, are a group of neurological disorders characterized by progressive neuronal loss in the central nervous system (CNS) and the deterioration of CNS function. Multiple lines of evidence have highlighted activation of innate immune cells in the CNS, namely microglia and astrocytes, as hallmark pathological features in neurodegeneration and key drivers of disease progression. Advances in genetic, neuropathological and experimental studies also underscore the potential role of the adaptive immune system in disease pathogenesis. Here we summarize the current understanding of how adaptive immunity can shape the progression of neurodegenerative diseases and highlight cross-disease parallels and potentially shared mechanisms. We also examine cellular events leading to the recruitment of peripheral immune cells to the CNS, as well as candidate antigens driving the adaptive immune response. Last, we discuss potential therapeutic strategies to treat neurodegeneration via the manipulation of adaptive immune cells.

DOI: https://doi.org/10.1038/s41590-026-02538-y
J Nurs Manag. 2026 ;2026(1): e6754802

Lived Experiences of Patients With Rare Diseases and Healthcare System Barriers: A Phenomenological Study.

Pedro Soriano-Martin, Cristofer Ruiz-González, Antonio Javier Alias-Castillo, Pablo Roman, Adrian Martinez-Ortigosa, Daniel Bertini-Pérez, Isabel Font Jímenez.

   AIM: To explore the lived experiences and perceptions of patients with rare diseases (RD) in relation to the disease process and its management by the healthcare system.
BACKGROUND: Although each RD individually affects fewer than 0.05% of the population, collectively RD affect between 3.5% and 5.9% of the global population, representing approximately 400 million people worldwide. Most RD are chronic, progressive, and debilitating, with 80% having a genetic origin. Despite advances, diagnosing RD remains complex, often taking 4 to 8 years, worsening patient outcomes and increasing healthcare costs. Furthermore, 95% of RD lack approved treatments, presenting significant challenges for both patients and healthcare systems.
METHODS: An interpretative phenomenological qualitative study following Gadamer's hermeneutic framework was conducted. Semistructured, in-depth interviews were conducted between February 2022 and January 2024. Seventeen patients with RD were recruited using purposeful sampling. ATLAS.ti v.9 software was used solely to organize and manage the data during the analysis process.
RESULTS: Two main interpretive themes emerged: (1) RD: a desperate struggle against abstraction and hindrance, describing the emotional burden, diagnostic delays, and social consequences faced by patients with RD and (2) management and handling of RD by the healthcare system, highlighting professional unpreparedness, lack of coordination, and the key role patients and caregivers play in guiding care and sharing knowledge, alongside the emergence of peer support, digital tools, and social media as facilitators.
CONCLUSION: This study highlights the significant barriers patients with RD face, from diagnosis to treatment. Healthcare systems struggle with insufficient knowledge and resources, hindering effective care. It is essential for professionals to acquire specialized skills and for resource allocation to improve in order to address RD as a public health concern.
IMPLICATIONS FOR NURSING MANAGEMENT: As part of an interprofessional team, nursing professionals play a vital role in supporting patients with RD throughout the diagnostic journey, treatment, and management. This study highlights the need for nurses to address not only clinical but also psychosocial and informational challenges, including guiding patients in the safe and effective use of social media as a source of support, information, and empowerment.
PATIENT AND PUBLIC CONTRIBUTION: Patients contributed as participants in the study by sharing their lived experiences through in-depth interviews. No patients or members of the public were involved in the design, conduct, reporting, or dissemination plans of this research.

Keywords:  disease management; health information management; healthcare disparities; rare diseases

DOI:  https://doi.org/10.1155/jonm/6754802
J Med Ethics. 2026 Jul 01. pii: jme-2026-111881. [Epub ahead of print]

Ethics of not knowing who we are talking to in qualitative research.

I-CARE Study Collaborative Group

  The increasing use of online methods in qualitative research, alongside the growing availability of artificial intelligence tools, has raised concerns about whether researchers can be certain who they are speaking to. These concerns are often framed in terms of 'imposter' or 'fraudulent' participants, with proposed responses focusing on detection and verification. This paper argues that such framing mischaracterises the ethical landscape. It presumes that authenticity can be reliably established in contexts where uncertainty is often unavoidable, risks excluding participants whose circumstances or communication styles do not align with normative expectations and reshapes the research relationship in ways that amplify existing power asymmetries. Drawing on relational ethics, ethics of care and accounts of epistemic injustice, the paper proposes a reframing of these encounters as 'uncertain encounters'. It suggests that, rather than treating uncertainty solely as a threat to data integrity, it can be understood as a feature of contemporary qualitative research that requires careful ethical engagement. The paper develops a proportionate approach in which verification is guided by the potential consequences of inauthentic participation rather than being applied routinely. It argues that uncertain accounts may still hold analytic value, particularly in studies concerned with meanings, narratives and social imaginaries. The paper concludes by outlining practical and institutional implications, including the need for reflexive practice, collective deliberation and greater transparency in reporting.

Keywords:  Ethics; Ethics Committees, Research; Ethics, Research; Ethics- Medical; Fraud

DOI:  https://doi.org/10.1136/jme-2026-111881
Ethics Hum Res. 2026 Jul-Aug;48(4):48(4): 6-19

Misaligned Expectations: Motivations of Medically Underserved People to Enroll in the All of Us Research Program.

Carolyn P Neuhaus, Danielle Pacia, Camila Salvagno, Johanna T Crane.

  It is important to know what motivates people, especially from groups underrepresented in biomedical research, to accept or decline participation in research studies. With this information, engagement strategies, incentives to participate, and benefits of participation can be aligned with what potential research participants value and expect from participating in research. Our project sought to identify what motivated people recruited at a Federally Qualified Health Center (FQHC) to enroll, or not, in the All of Us Research Program (AoU). Qualitative interviews revealed that the most common motivator was the prospect of learning information about their health, especially genetic information that might indicate inherited disease or disease risk, and opportunities for disease prevention. However, our research also revealed that the low-income, medically underserved people typically served by FQHCs face myriad financial, social, and political barriers to reaping the potential health benefits of knowing genetic health information. There is currently a misalignment between what motivates actual and potential research participants to enroll in AoU and the ability of low-income, medically underserved people to use genetic research results to benefit their health. Whether or not learning genetic research results leads to improved health outcomes should be approached as a question rather than an assumption. Embedding research within an unequal society remains a barrier to aligning research participants' motivations with the benefits that participation in research can deliver.

Keywords:  genetic information; genetic research; genetic research results; human research ethics; medically underserved people; underrepresented groups; willingness to participate

DOI:  https://doi.org/10.1002/eahr.70019
Indian J Surg Oncol. 2026 Jun;17(6): 1189-1191

Improving Communication Skills in Medical Practice: A Narrative Review.

Amar Deshpande, Dileep Hoysal, Shraddha Patkar.

   Introduction: Effective communication is a fundamental clinical skill that significantly influences patient outcomes, satisfaction, adherence to treatment, and medico-legal safety. Despite advances in medical technology, communication failures remain a major contributor to patient dissatisfaction, medical errors, and litigation.
Materials and methods: This narrative review examines the principles, models, and evidence underpinning effective communication in medical practice, including patient-doctor interactions, breaking bad news, shared decision-making, interprofessional communication, and training strategies. PubMed and AI search engines used to search for references for various aspects of the communication skills.
Conclusion: The review highlights structured communication frameworks, empathy-driven approaches, and educational interventions that can enhance communication competence among healthcare professionals.

Keywords:  Breaking bad news; Communication skills; Doctor–patient relationship; Empathy; Medical education; Shared decision-making

DOI:  https://doi.org/10.1007/s13193-026-02634-3
BMC Health Serv Res. 2026 Jun 27. pii: 876. [Epub ahead of print]26(1):

Primary and secondary patient participation - a qualitative study of healthcare professionals' perceptions and experiences.

Therese Scott Duncan, Carolina Wannheden, Maria Hägglund, Sabine Koch, Sara Riggare.

   BACKGROUND: Patient participation is increasingly emphasized in healthcare policy and practice, still less is known about how healthcare professionals (HCPs) perceive and experience patient and informal caregiver participation. Patient participation as a concept is described as sharing something in a partnership, such as a shared decision. Meaningful participation requires bridging the knowledge and power gap between HCPs and patients. The aim of this study was therefore to contribute to the conceptualization of patient and informal caregiver participation based on HCPs' experiences and perceptions.
METHOD: We conducted an inductive thematic analysis of qualitative data from open-ended responses and comments in a national web survey in Sweden. The survey explored attitudes toward patient participation and workplace support for collaborative practices and was completed by 279 participants, whereof 247 (89%) responded to at least one open-ended question or free text comment.
RESULTS: Two overarching themes were generated. Primary participation refers to how patients and informal caregivers manage their own health at a micro level in society. Secondary participation refers to an organizational level in society, to influence the healthcare system and support peers at macro and meso levels. HCPs valued well-informed patients as partners but expressed concerns about misinformation, workload, and health inequities. Digital tools were seen as enablers of participation, though usability and organizational readiness posed challenges. Secondary participation was perceived as beneficial but hindered by structural barriers, lack of management support, and limited resources.
CONCLUSION: HCPs generally supported patient participation, however, they faced systemic and practical obstacles. To foster meaningful collaboration, healthcare organizations need structured forums, training, and strategies to integrate patient knowledge at both individual and organizational levels. Future research should explore interventions that strengthen shared learning for patients and informal caregivers.

Keywords:  Digital solutions; Healthcare professionals; Informal caregivers; Patient participation; Qualitative study

DOI:  https://doi.org/10.1186/s12913-026-15039-3
J Med Internet Res. 2026 Jul 03. 28 e92696

Are Traditional Registries Becoming Obsolete in the Modern Digital Health Ecosystem?

Judith Wenk, Hernan Inojosa, Isabel Voigt, Stephen Gilbert, Tjalf Ziemssen.

  Registries have long been a cornerstone of medical research and public health, providing systematically collected data on diseases, treatments, and health outcomes. However, in the era of digital health, we argue that the traditional model of stand-alone registries needs reconsideration, given the context of increasingly digitized and interoperable health data ecosystems. Unless registries evolve to embrace embedded, standards-based data services, operating across interoperable infrastructure, they will become obsolete while digitalization is reshaping how data can be collected, shared, and used. In this viewpoint, we recount how the present health data ecosystem came to be and what role registries have come to play therein. Following that, we show how recent regulatory initiatives such as the Trusted Exchange Framework and Common Agreement in the United States or the European Health Data Space Regulation signal a shift toward cross-network health information exchange, promoting patient-centric data integration within electronic health record systems. We further illustrate how electronic health records are consequently set to evolve into information hubs, acting as the primary gateway for individuals through which they may access and control their personal health data spread throughout increasingly connected health data ecosystems. This, in turn, might stimulate the creation of digital twins and continuous learning health systems in practice. Following this line of thought, we discuss the opportunities and challenges of interconnected health data ecosystems. Ultimately, we propose that next-generation registries need to be designed as dynamic, service-oriented software stacks for research, leveraging the common data infrastructures that are currently being established around the world. Given the points raised in this viewpoint, we invite health care professionals and researchers alike to equally rethink the role that registries should play within the globally emerging interconnected health data ecosystems and contribute their findings. References included in this viewpoint were identified through searches of PubMed and Google Scholar with various search terms and combinations thereof pertinent to the topics touched on, for example, "patient registry," "clinical registry," "digital twin," "healthcare," "clinical research," "virtual twin," "TEFCA," or "EHDS." Only papers in English were reviewed. The final reference list was generated on the basis of originality and relevance to the broad scope of topics covered in this viewpoint, aiming to present a balanced overview of topic-related findings and arguments.

Keywords:  EHDS; TEFCA; digital health; digital twins; health data; patient registry

DOI:  https://doi.org/10.2196/92696