2026/01/08 by Sylvia Martin, Gergana Kyosovska-Peshtenska, Jennifer Audi +32 · 1 voice
Biochemistry, Genetics and Molecular Biology · #Genomics and Rare Diseases #Metabolism and Genetic Disorders #BRCA gene mutations in cancer
paper · doi:10.1186/s13023-025-04179-0
openalex publication_date 2026/01/08 · openalex created_date 2026/01/08 · openalex updated_date 2026/07/31
BACKGROUND: Newborn screening (NBS) and its genetic version, genetic NBS (gNBS), are now used to identify a broad range of conditions, including metabolic, endocrine, and genetic disorders, leading to significant reductions in infant mortality and long-term complications. Advances in genomic technologies, particularly next-generation sequencing, have enhanced the ability to detect rare diseases early, using gNBS, improving long-term outcomes. The availability and scope of gNBS vary across countries, influenced by national policies and technological advancements. This systematic literature review aims to clarify the specific barriers, opportunities, and more general attitudes that stakeholders express about gNBS for rare diseases. MAIN: We extracted articles from 2010 to 2022. We followed the PRISMA guidelines and registered the review via PROSPERO (CRD42022297678). From an initial retrieval of 4519 records, two selection rounds resulted in a final list of 112 articles, which were assessed across different categories exploring various aspects of gNBS. The most important perceived opportunities in gNBS were the benefits of early intervention to reduce the burden of the diagnostic odyssey. The main identified barriers included three key codes: the stress and risk associated with false results and dealing with uncertainty (n = 25), the psychosocial implications (n = 26), and misunderstandings due to lack of education or communication. The majority of respondents expressed positive views, particularly regarding actionability. CONCLUSION: The results indicate a generally favourable attitude toward newborn screening, with subtle variations in viewpoints. Our findings on these themes can specifically inform how final attitudes are shaped based on particular aspects.