bims-tyki2d 2026-05-10 papers

Issue of 2026–05–10
four papers selected by
Zoya Panahloo, UCB

Eur J Health Law. 2026 Apr 17. 33(2): 137-165

The Dilemma between Data Protection and Data Altruism within the Context of Rare Diseases in the European Health Data Space.

Laura Centeno Casado.

This article analyses how the notion of health data under the GDPR has evolved through the legal instruments and provisions on health data sharing in the Data Governance Act (DGA) and the European Health Data Space (EHDS), aiming both legal sources to facilitate data access and governance, including electronic health data for its primary and secondary use, by establishing harmonised rules. These regulations open opportunities to enhance cross-border data access, the promotion of data altruism, and the development of data governance models facilitating biomedical research. In the specific context of rare diseases, however, significant challenges remain emerging from variations between EU Member States implementation of the EHDS. In particular, the EHDS's secondary use framework, the genomic and biobank data exception, and the coexistence with the DGA's consent‑based data altruism model create a complex legal landscape for rare disease research. This contribution intends to clarify the legal bases for secondary use to improve the capacity to protect data subjects' right to data protection, while preserving data value and utility in biomedical research within the context of rare diseases.

DOI: https://doi.org/10.1163/15718093-bja10169

Eur J Hum Genet. 2026 May 05.

Harmonizing the genetic counselor profession in Europe.

Rebecka Pestoff, Christophe Cordier, Donna Darmanin, Katrin Õunap, Christi J van Asperen.

Genetics in medicine is rapidly becoming integral to European healthcare, yet access to high-quality genetic counseling remains inconsistent. Genetic counseling empowers patients to make informed decisions about genetic testing, improves clinical management, and mitigates psychosocial harm. Despite growing demand, the genetic counselor profession lacks legal recognition, standardized education, and harmonized regulation across European Union (EU) Member States. Current fragmentation, which is evident in separate national laws and variable practices, poses systemic risks, including inequitable care and credentialing barriers. This paper argues that harmonization is essential to ensure ethical, safe, and effective genetic services. We recommend EU-wide legal recognition of genetic counselors, standardized education through EBMG-accredited programs, and investment in workforce development and education. Coordinated action can safeguard individuals' rights, support professional mobility, and enable responsible integration of genomics into healthcare.

DOI: https://doi.org/10.1038/s41431-026-02097-8

Adv Exp Med Biol. 2026 ;1504 329-356

Genomics in Health and Biomedicine.

Maria Luís Cardoso, Hugo Martiniano, Luisa Mota-Vieira, Astrid Moura Vicente.

Genomic information is rapidly becoming a cornerstone of personalized medicine, offering transformative potential for clinical practice. This chapter explores the critical role of genomics in enabling earlier diagnosis, precise treatment, risk prediction, and preventive healthcare strategies. Advances in sequencing technologies, data integration, and bioinformatics allow for tailored healthcare solutions based on an individual's genetic profile, combined with clinical, lifestyle, and environmental data. Integration with electronic health records, mHealth technologies, and artificial intelligence further enhances clinical decision-making. The chapter highlights current applications of genomic medicine in oncology, rare diseases, and pharmacogenomics and the growing relevance of polygenic risk scores in managing common chronic diseases. It also discusses the need for harmonized data governance, infrastructure development, professional training, and public engagement to ensure equitable and effective implementation. These developments are situated within the broader landscape of national and international initiatives-including ICPerMed, 1Million Genomes, and the Genome of Europe project-that aim to foster collaboration, standardization, and equitable access to genomic healthcare across populations. Clinical areas where genomics has already demonstrated substantial value are discussed while identifying key challenges and priorities for advancing the future of personalized medicine.

Keywords: Cancer genomics; Data governance; Genomics; Personalized medicine; Pharmacogenomics; Polygenic risk scores; Rare diseases

DOI: https://doi.org/10.1007/978-3-032-18966-0_16

Clin Transl Sci. 2026 May;19(5): e70551

Supply and Demand in the Mathematics of Rare Disease Drug Development: Why Choosing the Right Model Is Crucial.

Marshall L Summar, Janet Woodcock.

Clinical trials for rare diseases face a fundamental mathematical challenge that conventional randomized controlled trial (RCT) designs cannot overcome. With approximately 95% of the estimated 10,000-16,000 rare diseases lacking approved therapies, and drug development programs failing at rates exceeding 75% in non-oncology indications, the field confronts a stark reality: Traditional trial designs demand patient numbers that simply do not exist. This perspective article examines the critical mismatch between the statistical requirements of different trial designs (the "demand") and the actual patient populations available for study (the "supply"). We demonstrate mathematically that alternative trial designs-particularly patient-as-own-control and natural history comparator models-can reduce required sample sizes by 5- to 20-fold while maintaining statistical rigor. We further point out that a substantial proportion of rare disease trial failures stem not from therapeutic inefficacy but from recruitment and retention challenges inherent to underpowered RCT designs-challenges that are directly addressable through appropriately matched trial design. Given that most rare disease development programs receive only one opportunity to demonstrate efficacy, the continued application of inappropriate statistical models represents both a scientific failure and an ethical and economic challenge to the rare disease community. We propose that regulatory agencies formalize acceptance of alternative trial designs for rare diseases, supported by explicit mathematical frameworks that transparently account for genetic heterogeneity, pediatric populations, and the statistical efficiency gains achieved through within-subject correlation.

Keywords: clinical trial design; natural history controls; patient‐as‐own‐control; rare diseases; sample size; statistical power

DOI: https://doi.org/10.1111/cts.70551