bims-tyki2d 2026-03-22 papers

Issue of 2026–03–22
six papers selected by
Zoya Panahloo, UCB

Dtsch Arztebl Int. 2026 Apr 03. pii: arztebl.m2026.0030. [Epub ahead of print]123(7):

Exome and Genome Sequencing for the Diagnosis of Rare Diseases.

members of the study group

BACKGROUND: Genetic changes in the germline are the main cause of rare diseases (RD) and represent a significant disease burden in the population. Rapid and comprehensive genetic diagnosis is the key to clinical management.
METHODS: Whole-genome sequencing was used to diagnose RD in a clinically heterogeneous patient cohort representative of real-world clinical practice. Three subgroups were distinguished based on genetic pre-diagnosis. 963 genomes were sequenced (360 index individuals from different families and 603 family members). The families received genetic counseling and were asked about their acceptance of the diagnostic test.
RESULTS: The diagnosis rate in the overall cohort was 30% (95% confidence interval: [25.3; 34.7%]; 108/360). In 2.2% ([0.7; 3.7%]; 8/360) of cases, variants were found that would not have been detectable in the exome, corresponding to 7.4% ([2.4; 12.4%]; 8/108) among the detected cases in a direct comparison of "exome versus genome." The acceptance of genome sequencing was very high when embedded in human genetic counseling.
CONCLUSION: Genome sequencing is an effective way to diagnose RD. Genome data provide a comprehensive basis for continuous re-evaluation and are superior to exome data in this respect. The integration of genome sequencing into standard care is now under evaluation as part of the nationwide "Model project genome sequencing" in Germany.

DOI: https://doi.org/10.3238/arztebl.m2026.0030

Genet Med Open. 2026 ;4 104371

A population-representative survey on attitudes toward genomic newborn screening in Germany.

Elena Sophia Doll, Karla Alex, Carlotta Julia Mayer, Heiko Brennenstuhl, Ulrike Mütze, Hadley Stevens Smith, Charlotte Raithel, Elmar Brähler, Ralf Müller-Terpitz, Stefan Kölker, Christian P Schaaf, Eva C Winkler, Beate Ditzen, Julia Mahal.

Purpose: This study assessed general attitudes toward genomic newborn screening (gNBS) among the German public.
Methods: In a population-representative survey, we assessed self-rated prior knowledge of gNBS, newborn screening (NBS), and genome sequencing and perceived attitudinal and informational uncertainty and agreement with potential advantages and disadvantages of gNBS via paper-based questionnaire. Sociodemographic information was obtained through interviews. Analyses included descriptive statistics and multiple linear regressions.
Results: Respondents (N = 2504; ages 16-92) rated their prior knowledge as low, especially for gNBS compared with NBS. Informational uncertainty was higher among individuals with lower self-rated prior knowledge, lower educational attainment, and lower income, whereas attitudinal uncertainty showed no significant correlates with sociodemographic factors. Agreement with potential advantages of gNBS outweighed that of potential disadvantages. Higher self-rated prior knowledge and income predicted higher agreement with advantages. Right-leaning political views correlated with greater agreement with disadvantages. Overall, sociodemographic factors explained little variance.
Conclusion: Perceptions of gNBS were predominantly positive, although marked by uncertainty and low prior knowledge. Although some sociodemographic differences emerged, their influence on attitudes was limited. Additional factors, such as personality traits, may help explain attitude differences. Given low prior knowledge and its association with support for gNBS, improving genetic literacy through diverse outreach strategies is essential to enhance public acceptance of gNBS in Germany.

Keywords: Attitudes; Genomic neonatal screening; Genomic newborn screening; Knowledge; Public

DOI: https://doi.org/10.1016/j.gimo.2026.104371

Eur J Health Law. 2026 Mar 17. 1-28

Rare Diseases, Cross-Border Healthcare and Fundamental Rights: Improving Patient Protection through the Charter.

Barend van Leeuwen.

In the EU rules on the right to reimbursement of cross-border healthcare, no specific or additional protection is provided to patients with rare diseases. This approach is inconsistent with other EU measures in the field of rare diseases, such as the Orphan Medicinal Products Regulation. This "gap" in legal protection should be filled by relying on the Charter of Fundamental Rights. The CJEU has developed a non-discrimination "frame" for cross-border healthcare cases in A v Veselības Ministrija, which should be applied to patients with rare diseases. This means that, to avoid discrimination on the ground of disability, additional protection mechanisms should be developed for patients with rare diseases in the procedure for requesting prior authorisation of cross-border medical treatment. Patients can rely on these mechanisms throughout the procedure for prior authorisation.

DOI: https://doi.org/10.1163/15718093-bja10159

J Community Genet. 2026 Mar 14. pii: 36. [Epub ahead of print]17(2):

Reframing bioinformatics capacity development in Africa: from training supply to research-driven demand.

Juma Hussein, Hawa Myovela.

Keywords: Capacity building; Data science; Genetic diversity; Genomics in Africa; Health equity; Public health genetics

DOI: https://doi.org/10.1007/s12687-026-00877-9

Ther Innov Regul Sci. 2026 Mar 18.

Parents' Perspectives on Access to Pediatric Rare Disease Cross-Border Clinical Trials in Europe: Experiences of Language Inclusion and Preferences.

Begonya Nafria, Segolene Gaillard, Martine Dehlinger-Kremer, Pamela Dicks, Ricardo M Fernandes, Lucy Bray, Barbara E Bierer, Bob Phillips.

INTRODUCTION: Access to cross-border clinical trials may represent the sole therapeutic option for children living with rare diseases for which no approved medicines exist. Many children are excluded from participation in trials due to language restrictions. There are insufficient comprehensive analyses of the experiences and preferences of parents across Europe concerning participation and exclusion of their child in international clinical trials, particularly regarding language support during enrollment in cross-border clinical research studies.
METHODS: An anonymous online survey was designed and translated into 22 official European languages to collect data from parents of children living with a disease across Europe. The survey included five sections: (1) sociodemographic information; (2) experience participating in a clinical trial; (3) experience in cases where the patient was unable to take part in a study abroad; (4) experience participating in a clinical trial abroad; and (5) preferences regarding decentralized trial options.
RESULTS: 1,436 responses were analyzed from parents across 34 European countries.
KEY FINDINGS: 55.7% of the parents reported being able to communicate in English. 10.7% had prior clinical trial experience, of whom 30.1% traveled abroad to enable their child to participate. Among those reporting being excluded from cross-border trials, 34.7% cited language barriers or country of residence as the reason. Most families expressed a strong willingness to accept decentralized trial options, regardless of where the study may be conducted.
CONCLUSIONS: Accommodating language translation to permit participation in a clinical trial abroad is feasible. While a significant percentage of caregivers of pediatric patients in Europe could communicate in English, approximately one-third of those excluded from clinical trials cited language barriers or country of residence as the reason. When translation was required, the most commonly offered solution was the use of professional interpreters, an accommodation that could enable broader patient participation in essential research.

Keywords: Cross-border clinical trials; Informed consent process; Mother tongue; Parents’ preferences; Patient reported outcomes measures (PROMs); Preferred language; Quality of life scales; Translation

DOI: https://doi.org/10.1007/s43441-026-00942-y