FROM CARRIER SCREENING TO NEONATAL DIAGNOSIS: AN INTEGRATED GENOMIC APPROACH TO PREVENTING INHERITED DISORDERS

Background: Inherited disorders still account for a significant proportion of infant illness and mortality globally and the ability to detect carrier status prior to conception and diagnose affected infants after birth has grown rapidly since the broad use of next generation sequencing (NGS). Carrier screening and newborn screening have been conducted separately, under separate professional accreditation bodies and funding mechanisms, even though they are both dealing with the same issue, albeit on opposite sides of the reproductive spectrum.
Aim: This review explores the potential for a new integrated genomic pathway, from preconception or prenatal carrier screening to whole genome sequencing based neonatal diagnosis, to enhance early detection of inherited disorders and considers the evidence relevant to this integration.
Method: A narrative review was conducted, which included publications published from January 2015 to December 2025 in English language on PubMed, Scopus, Google Scholar and the websites of the relevant professional organizations. The search terms used were a combination of carrier screening, non-invasive prenatal testing, newborn genomic screening, whole genome sequencing and cost-effectiveness. Studies, guidelines and programme reports that were directly relevant were included and synthesised according to themes.
Findings: Literature demonstrates consistent diagnostic yield from genomic newborn screening pilots, including BabySeq, GUARDIAN, the Belgian maternity ward pilot and the Generation Study, with guidance now available to support panethnic carrier screening, and cost, counselling skills capacity, variant interpretation and inequities in access remain barriers to implementation outside of high income contexts.
Conclusion: An integrated pathway is technically possible and clinically attractive, but is not likely to happen without a concerted investment in counselling support, evidence sharing and access, not sequencing.