bims-tyki2d 2026-03-01 papers

Issue of 2026–03–01
nine papers selected by
Zoya Panahloo, UCB

Eur J Hum Genet. 2026 Feb 26.

Mainstreaming genomic testing for mitochondrial disease in Australia.

Megan Ball, Naomi Baker, Sze Chern Lim, Sarah Casauria, Sebastian Lunke, Alison G Compton, David R Thorburn, John Christodoulou, Zornitza Stark.

Genomic sequencing has transformed the diagnostic approach for mitochondrial disease, yet integration into standard clinical practice is limited by access and funding. We conducted a post-implementation evaluation of genome sequencing (GS) for mitochondrial disease in Australia, which became publicly funded through the Medicare Benefits Scheme (MBS) in November 2023, to allow for broader access to testing. Test request data, including demographics, phenotypic information, and the diagnostic outcomes, were collected from November 2023 to May 2025 from the Victorian Clinical Genetics Services, the current laboratory provider of the MBS-funded service. Test uptake was 26% of predicted, with lower test rates in regional and remote areas. Over the first 19 months, 300 individuals suspected of mitochondrial disease underwent GS with a median turnaround time of 84 days (8 days-218 days). The diagnostic yield was 20%, with 56% of diagnoses in known mitochondrial disease genes. Of these, 70% (24 of 34) were in mitochondrial DNA. Seventeen diagnoses were in individuals who had prior non-diagnostic testing (exome sequencing or gene panel). We demonstrate that publicly-funded GS can deliver meaningful diagnostic outcomes for mitochondrial disease on a national scale. To maximise its impact, attention must now shift towards ensuring equitable access, particularly for regional and remote areas, and embedding sustainable mainstreaming models that support both genetic and non-genetic clinicians.

DOI: https://doi.org/10.1038/s41431-026-02053-6

Pediatr Investig. 2026 Feb;10(1): 70-85

Next-generation sequencing in newborn screening: Current status, challenges, and future perspectives.

Zhelan Huang, Wenhao Zhou.

Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early detection of hereditary and metabolic diseases. With advances in genomic technology, genomic NBS (gNBS) is gradually overcoming the limitations of conventional biochemical NBS and emerging as an innovative approach. This review systematically summarizes the developmental trajectory of NBS, highlighting the transformative transition from conventional biochemical methods to genetic approaches. It also presents global initiatives and preliminary findings from gNBS practices. Although gNBS offers broad potential applications, several critical challenges must be addressed to optimize its clinical implementation. Comprehensive international collaboration is essential for advancing gNBS and enhancing newborn health worldwide.

Keywords: Genomic newborn screening; Newborn screening; Next‐generation sequencing

DOI: https://doi.org/10.1002/ped4.70030

JMIR Form Res. 2026 Feb 24. 10 e79978

TikTok as a Platform for Patient Education and Health Information in Rare Genetic Diseases: Cross-Sectional Study.

Jackson Montgomery Wahman, Rhoda Mariam Hijazi, Hosam Gharib Abdelhady.

Background: Rare genetic diseases pose significant diagnostic and therapeutic challenges, often leading to delayed diagnoses, misinformation, and patient isolation. Social media platforms have emerged as prominent spaces for health information dissemination and community building among patients with rare diseases.
Objective: This study aimed to evaluate the role of TikTok videos in patient education, community engagement, and information quality related to 5 rare genetic conditions: Ehlers-Danlos syndrome, Marfan syndrome, cystic fibrosis, Wilson disease, and Gaucher disease.
Methods: A cross-sectional analysis was conducted on 184 TikTok videos identified via disease-specific hashtags. Included videos were 15 seconds to 4 minutes long and directly discussed the target diseases. Advertisements, promotional content, and product marketing were excluded. Videos were categorized by creator type: physicians, medical professionals, patients, influencers, nonprofit organizations, and others. Content quality was assessed using the Global Quality Scale (GQS) and a modified DISCERN tool (mDISCERN). Engagement metrics (views, likes, and shares) were recorded. Kruskal-Wallis and chi-square tests evaluated differences across creator categories.
Results: Of the 184 TikTok videos, 88 (47.8%) were created by patients or family members; 31 (16.8%) by influencers, 24 (13.0%) by physicians, 17 (9.2%) by nonprofit organizations, 15 (8.2%) by general users, and 9 (4.9%) by others. Collectively, the videos amassed more than 123 million views. Influencer-generated content accounted for the highest cumulative view count, totaling approximately 60.9 million views. Content produced by medical professionals and physicians demonstrated higher information quality, with mean GQS scores of 3.89 (SD 0.66) and 3.62 (SD 0.71) and mDISCERN scores of 3.11 (SD 0.58) and 3.21 (SD 0.65), respectively. In contrast, videos by influencers and patients exhibited lower quality scores (influencers: GQS mean 1.48, SD 0.60; mDISCERN mean 1.42, SD 0.55; patients: GQS mean 1.57, SD 0.58; mDISCERN mean 1.38, SD 0.52). For Ehlers-Danlos syndrome (n=40 videos, 21.7%), Wilson disease (n=40 videos, 21.7%), and cystic fibrosis (n=34 videos, 18.5%), significant differences in quality scores among creator types were observed (P<.001, P<.001, and P≤.04, respectively). For Marfan syndrome (n=40 videos, 21.7%) and Gaucher disease (n=30 videos, 16.3%), no significant differences were observed (P=.43 and P=.07, respectively). Chi-square analysis indicated no association between creator type and inclusion of peer-reviewed references (χ25=10.6; P=.07). Overall, only 7 (3.8%) videos cited scientific literature.
Conclusions: TikTok serves as a key platform for rare disease awareness and community engagement, although the quality and accuracy of health information vary widely. Although medical professionals produced higher-quality content, it tended to receive less visibility. Increasing the presence of health care professionals and improving visibility of evidence-based content could enhance patient education and safer health information sharing.

Keywords: Ehlers-Danlos syndrome; Gaucher disease; Marfan syndrome; TikTok; cystic fibrosis; health misinformation; patient education; rare diseases; social media

DOI: https://doi.org/10.2196/79978

Eur J Hum Genet. 2026 Feb 23.

A qualitative study exploring young adult's attitudes towards adopting whole genome sequencing into newborn screening programs.

Embedzayi Madhiri, Ming Li, Haocen Wang, Christopher Howard Wade, Lei-Shih Chen.

Whole genome sequencing (WGS) has generated interest as a potential way to enhance and expand the scope of newborn screening (NBS) programs. The effective implementation of WGS in NBS programs relies on several factors, including parental perceptions. Young adults are potential future parents when WGS is expected to be fully implemented in NBS programs. Therefore, it is essential to understand their perspectives regarding the integration of WGS into NBS programs. Given that there is a dearth of studies in this topic, we explored the perceptions of young adults about the integration of WGS into NBS programs. We conducted semi-structured qualitative interviews with 58 young adults and used the content analysis to analyze the qualitative data. Our findings provide evidence that the majority of our study participants would choose to have their future newborns undergo WGS in NBS programs. The primary motivation for wanting to do so was that WGS would help them to seek out and take measures to prevent diseases for their children. However, some participants expressed concerns about receiving non-medically actionable WGS results. Our findings highlight the need for policymakers, healthcare providers, and researchers to carefully evaluate the type of WGS results returned to parents before integrating WGS into NBS programs.

DOI: https://doi.org/10.1038/s41431-026-02047-4

Lancet Neurol. 2026 Mar;pii: S1474-4422(26)00038-4. [Epub ahead of print]25(3): 215-217

Broad lessons from negative trials in rare diseases.

Laurent Servais, Maryam Oskoui.

DOI: https://doi.org/10.1016/S1474-4422(26)00038-4

Drug Discov Today. 2026 Feb 19. pii: S1359-6446(26)00036-X. [Epub ahead of print] 104631

Tracing the path of non-industry-driven medicine development for rare diseases through regulatory interactions at the European Medicines Agency.

Noa Rosenberg, Carla E M Hollak, V A Haverhoek, Violeta Stoyanova-Beninska, A M G Pasmooij, Saco J de Visser.

Non-industry organizations, including academia, charities, and public institutes, increasingly contribute to rare disease medicine development. In this study, we reviewed orphan designations (ODs) granted between 2000 and 2022, comparing non-industry and industry outcomes. Of 2734 ODs, 183 (6.7%) originated from non-industry organizations. Protocol assistance was obtained for 33% of non-industry and 35% of industry ODs, with distinct peaks for non-industry ODs in 2015 and 2017 linked to European grant calls promoting regulatory engagement. Only six non-industry ODs led to marketing authorization, all post transfer to industry. Our findings indicate lower transition rates yet partial long-term convergence, highlighting the value of targeted grants and regulatory support.

Keywords: medicines development; orphan designation; orphan medicine; protocol assistance; rare disease; regulatory interaction

DOI: https://doi.org/10.1016/j.drudis.2026.104631

Intractable Rare Dis Res. 2026 Feb 28. 15(1): 1-3

From system building to global engagement: Current significance of and future directions for rare disease research in China.

Wei Tang.

Rare disease research is undergoing a gradual shift from a primary focus on single-disease mechanisms and drug development toward a more comprehensive agenda encompassing healthcare systems, policy frameworks, and patient engagement. The themed issue of Intractable & Rare Diseases Research (IRDR), entitled "Rare Diseases and Orphan Drugs in China: From System Building to Global Engagement," systematically presents China's recent efforts in building governance structures for rare diseases, strengthening clinical collaboration networks, increasing the use of real-world data, and fostering multi-stakeholder participation. Emerging within the context of a large population and pronounced regional disparities, the Chinese experience offers new analytical perspectives and practical reference points for global rare disease research. It also contributes to an ongoing paradigm shift-from isolated, single-disease breakthroughs toward the development of sustainable, system-level capacity.

Keywords: international collaboration; policy and governance; rare diseases; real-world evidence; strengthening of the healthcare system

DOI: https://doi.org/10.5582/irdr.2026.01015

Intractable Rare Dis Res. 2026 Feb 28. 15(1): 11-16

Progress in the research and pharmacoeconomic evaluation of drugs and devices for rare diseases in China.

Shanlian Hu.

The development, importation, and reimbursement of drugs and medical devices for rare diseases have become critical issues within China's healthcare system. Since 2018, China has issued two national Rare Disease Lists, covering 207 diseases. As of December 2025, 223 drugs for rare diseases have been marketed domestically, with 136 (61.0%) included in the national list for reimbursement by basic medical insurance scheme. Advances have also been made in diagnostic technologies and treatment equipment. This article also examines the issues with and factors influencing the pharmacoeconomic evaluation of rare disease therapies. Additionally, over 100 registered patient organizations contribute substantially to care, education, research, and advocacy. China has piloted multi-level healthcare security system, including national and local healthcare security systems. The introduction of a list of innovative drugs covered by commercial insurance in 2025 further supplements this system. These measures have collectively expanded reimbursement coverage. Despite progress in drug development, insurance coverage, and evaluation of drugs in terms of health economics, continued efforts are needed to enhance treatment accessibility and equity. Key measures include putting forward rare disease legislation, promoting research on health technology assessment, improving health utility measurement, encouraging domestic orphan drug development, and strengthening international collaboration. China's experience offers valuable insights for global rare disease prevention and treatment initiatives.

Keywords: orphan drugs; pharmaceutical policy; pharmacoeconomic evaluation; rare disease medical devices; rare diseases

DOI: https://doi.org/10.5582/irdr.2025.01071