Abstract Reproductive carrier screening (RCS) has made its way into the health care system in various countries. Current data suggest that 3.5 % of European couples are carriers for the same autosomal recessive disease and an additional 1.0 % of women are carriers of an X-linked disease. Once an increased genetic risk has been identified, couples can choose between a range of options, including prenatal or preimplantation diagnostics. Also alternatives apply such as gamete donation, reconsidering their desire to have children, adoption, or accepting a child with the condition. Improved reproductive autonomy is the main argument for RCS along with the concept of the best possible personalized medicine according to the current state of science and technology. The individual desire of couples to determine genetic risks for future children should be acknowledged and politically legalized. The authors outline the legal, genetic and reproductive, and ethical perspectives for RCS in the German healthcare system.
Abstract Newborn screening (NBS) enables early detection of inherited diseases but is largely limited to conditions with reliable biomarkers. Advances in genomics have therefore prompted pilot studies evaluating DNA sequencing as an expansion of NBS, termed genomic NBS (gNBS). This review summarizes evidence from international gNBS studies, focusing on methodological frameworks, screen-positive rates, and early clinical and psychosocial outcomes. Major initiatives demonstrate technical feasibility and actionable findings in up to 4 % of newborns in the reviewed studies, with even higher estimates reported in individual studies in the broader literature. Parental acceptance depends on high test validity, clinical actionability, and high-quality counseling. Key challenges include variant interpretation, management of uncertainty, infrastructure demands, and cost-benefit considerations. International experience highlights implications for Germany, including evidence-based disease selection, integration of sequencing into existing NBS infrastructures, robust consent models, and harmonized national pathways for reporting, follow-up, and data governance.
