bims-tyki2d 2026-02-22 papers

Issue of 2026–02–22
six papers selected by
Zoya Panahloo, UCB

NPJ Genom Med. 2026 Feb 14.

Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study.

Lilian Downie, Jade Caruana, Nathasha Kugenthiran, Anaita Kanga-Parabia, Erin Tutty, Yvonne Bombard, Marc Clausen, Sophie Bouffler, Clara Gaff, Alison D Archibald, Sebastian Lunke, Zornitza Stark.

Digital platforms hold promise to scale implementation of population screening. We tailored the Genetics Adviser platform to provide education, decision support, consent, and result return in a genomic newborn screening (gNBS) study, BabyScreen + . Participants were surveyed and interviewed on the usability and value of Genetics Adviser. Genetics Adviser was used by 1048 participants and 1007 (96%) provided feedback. The majority (96%, n = 963) found the platform easy to navigate, with 85% (n = 851) spending <20 min online. Participants demonstrated excellent understanding, over 80% answering at least 6/8 knowledge questions correctly. Only 7% (12/173) of participant-initiated contacts with the study team were for genetic counselling. Interview participants valued the online process. We demonstrate the successful use of a digital platform for a genomic screening program. This model is streamlined, providing consistent, user-friendly education to support decision-making with minimal input from healthcare practitioners. Further evaluation in diverse populations will be essential for future use.

DOI: https://doi.org/10.1038/s41525-026-00551-6

Pediatr Rep. 2026 Jan 19. pii: 14. [Epub ahead of print]18(1):

Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives.

Albina Tummolo, Emanuela Ponzi, Simonetta Simonetti, Mattia Gentile.

In recent years, the development of new diagnostic technologies, such as tandem mass spectrometry (MS/MS) and next-generation sequencing (NGS), has caused a veritable revolution in the diagnosis of genetic diseases, reducing time, cost, and invasiveness associated with prior diagnostic techniques. While MS/MS laid the foundation for the development of numerous, usually institutionally based, neonatal screening programs, NGS has gained traction in newborn screening (NBS), primarily through pilot projects and private funding across different countries. As a result, the traditional Wilson and Jungner criteria have been supplemented by additional criteria, including considerations of equity and access, in response to emerging technologies. This review aims to provide an up-to-date overview of the global landscape of metabolic screening panels, highlight the major ongoing genomic screening projects, and outline the current models for integrating these two screening systems. Substantial differences exist across countries in the numbers and types of diseases included in national NBS programmes. In this context, Italy represents a prominent case, as its neonatal screening framework has seen significant expansion and development in recent years, reaching a particularly comprehensive metabolic screening panel. Nonetheless, a number of initiatives to incorporate genomic technologies into the NBS pathway are currently underway, primarily involving high-income countries. Nonetheless, unlike metabolomic-based NBS programs, no country has a government-mandated NGS program as first-tier testing for newborns. New evidence is emerging from ongoing models of integration of multi-omics approaches into NBS, including the use of AI and machine learning. Identifying the most appropriate system for this integration to reduce the false-positive and false-negative rates associated with both screening types, ensure more equitable access to screening, and facilitate faster access to treatment may represent a useful and foresightful way to conceptualize NBS in the future. This transitional phase should promote rigorous improvements before full-scale adoption.

Keywords: genomics; metabolic disorders; multiomics; newborn screening; next-generation sequencing; tandem mass spectrometry

DOI: https://doi.org/10.3390/pediatric18010014

J Public Health Policy. 2026 Feb 15.

Knowledge and attitudes of personalized medicine, genetic testing, and health data sharing: a comprehensive survey in the European Union.

Francesco Andrea Causio, Flavia Beccia, Giovanna Elisa Calabrò, Loes Lindiwe Kreeftenberg, Roberta Pastorino, Carla van El, Stefania Boccia.

Personalized medicine's innovative approaches rely on the public's awareness and proficiency. We distributed an online survey to 6581 respondents from eight EU countries, investigating the public's knowledge of personalized medicine, support for implementing genetic testing in their healthcare system, and willingness to share health data. 12.11% of respondents had high compound knowledge of the topics. Knowledge levels vary among the included countries (highest in the Netherlands at 18.87%, lowest in France at 7.44%). 81.5% supported genetic testing in their healthcare systems, with acceptance rates varying for testing purposes. 52.35% reported willingness to share health data for altruistic use. Support for implementing genetic testing and the desire to share health data correlated positively with knowledge and education levels. Respondents from Southern Europe displayed higher support toward personalized medicine than in Central and Eastern Europe. Communication and education strategies are needed to enhance public understanding and trust in personalized medicine and health data sharing.

Keywords: Attitude to health; Data sharing; Genetic testing; Health communication; Health knowledge, attitudes, practice; Health literacy; Patient acceptance of health care; Precision medicine

DOI: https://doi.org/10.1057/s41271-025-00619-0

Nature. 2026 Feb 18.

AI succeeds in diagnosing rare diseases.

Timo Lassmann.

Keywords: Genomics; Machine learning; Medical research

DOI: https://doi.org/10.1038/d41586-026-00290-9

J Inherit Metab Dis. 2026 Mar;49(2): e70146

Medicine Development and Access for Rare Diseases: Can We Do Better?

Carla E M Hollak, Noa Rosenberg, Colinda Post, Nina Stolwijk, Evert Manders, Daphne Schoenmakers, Bart Penninx, Niels Reijnhout, Kathelijn Verdeyen, Roel Jonker, Annet M Bosch, Mirjam Langeveld, Vincent van der Wel, Saco de Visser, Sibren van den Berg.

Recent advances in molecular biology and genomics have significantly enhanced our understanding of rare diseases. While enabling the development of highly targeted therapies, it also leads to complexity in the development, regulation, and accessibility of orphan medicines. Unmet need and great promise of new medicines, combined with high prices and uncertain effectiveness, highlight the shortcomings of the system, particularly evident for highly specialized treatment options, such as advanced therapy medicinal products and RNA-based treatments. While all stakeholders in this field must take responsibility, academic researchers and clinicians have a vital role which must be strengthened to improve access to and affordability of medicines. Regarding academia-driven orphan medicine development, academic contributions are predominantly concentrated in the early research phases, often lacking continuity throughout the full development pipeline. There is limited expertise in regulatory affairs and market access, and little involvement in medicine pricing or licensing negotiations. Recommendations include sustained academic engagement across all development stages, integration of regulatory and market access training into educational programs, and the implementation of socially responsible frameworks. Strategies promoting the rational use of orphan medicines should be embedded across the entire product lifecycle. Industry-driven development typically interacts primarily with regulatory agencies and payers, with academia playing a reactive and, at times, conflicted role. Independent academic-industry interaction is recommended, with early involvement in clinical trial design. Additionally, academia should proactively contribute to the evaluation of new therapies, development of controlled access models, and exploration of sustainable pricing frameworks. Establishing independent, multi-purpose disease registries would enhance post-authorization monitoring and evidence generation.

DOI: https://doi.org/10.1002/jimd.70146

HGG Adv. 2026 Feb 18. pii: S2666-2477(26)00022-9. [Epub ahead of print] 100582

Scaling Genomic Reanalysis to Unlock Diagnoses and Transform Rare Disease Care.

Genomic reanalysis can identify causative variants for rare diseases as patient phenotypes evolve and gene-disease knowledge expands. Despite its diagnostic value, routine reanalysis is limited by clinician capacity, lack of patient follow-up, data silos, cost, and lack of availability of clinical data to testing laboratories that are not obligated to conduct reanalysis. The Children's Rare Disease Collaborative at Boston Children's Hospital (BCH) has integrated genomic and phenotypic data from over 15,500 patients into a clinician-facing platform. Leveraging this infrastructure, we developed a Proactive Genomic Reanalysis (PGR) workflow at BCH for clinical sequencing data that is centralized, semi-automated and clinically integrated. Here, we report initial results and outline required resources and transferable insights applicable to other healthcare settings. Initial pilot implementation, applied to a subset of clinical sequencing patients' data, revealed practical challenges, notably clinician turnover and patient recontact difficulties. Of 42 patients' candidate variants discovered by the PGR bioinformatics pipeline and returned to treating clinicians, 33 were determined to have a high suspicion of disease causality and an additional 3 were determined to be candidate VUS. A process to generate reports and return results to patients was initiated when applicable. Though the initial pilot implementation was limited, the PGR bioinformatics pipeline is designed to be utilized iteratively, making reanalysis a continuing process. This work highlights the feasibility and impact of centralized PGR processes and the potential for healthcare institutions to scale genomic reanalysis.

DOI: https://doi.org/10.1016/j.xhgg.2026.100582