Expanded Carrier Screening in Genetic Disorders

Expanded carrier screening offers prospective parents the opportunity to assess their risk of passing on genetic disorders by simultaneously testing for a broad array of inherited variants. Initially developed as targeted, ancestry-based assays for single conditions, recent technological advances—including next-generation sequencing and high-throughput genotyping—have enabled panels encompassing hundreds of genes. This shift from selective to pan-ethnic screening has important implications for reproductive medicine, allowing risk assessment across diverse populations without prior knowledge of ancestry. The information generated can guide reproductive choices through preconception counselling, prenatal diagnostics or assisted reproductive technologies such as in vitro fertilisation with preimplantation genetic testing. Despite clear benefits, implementation is challenged by the need for consensus on panel composition, interpretation of variant pathogenicity and the definition of disease severity. Ethical considerations include informed consent, potential discrimination and psychosocial impact on couples. Health-economic analyses suggest cost-effective integration into routine care, particularly when underpinned by well-designed clinical workflows and robust genetic counselling. Ensuring equitable access, especially in low-resource settings, remains a priority to realise global impact. Ongoing research continues to refine clinical thresholds, improve detection rates and harmonise guidelines to support standardised, responsible use of expanded carrier screening in reproductive health services.

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Expanded Carrier Screening in Genetic Disorders publication trend

The graph below shows the total number of articles in expanded carrier screening in genetic disorders across all publications each year (not limited to Nature Index journals).

Technical terms

Expanded carrier screening: Simultaneous testing of multiple genes to identify carriers of recessive or X-linked genetic conditions irrespective of ancestry.

At-risk couple: A pair in which both partners carry pathogenic variants for the same autosomal recessive or X-linked disorder, elevating the risk of an affected pregnancy.

Gene panel: A predefined set of genes selected for inclusion in a genetic test based on disease severity, prevalence and clinical relevance.

Whole-exome sequencing: A high-throughput method that analyses the protein-coding regions of all genes to detect variant mutations associated with disease.

Residual risk: The remaining probability of being a carrier after a negative test result, influenced by panel sensitivity and variant detection rates.

References

1. Scaling-up and future sustainability of a national reproductive genetic carrier screening program. npj Genomic Medicine (2023).
2. Genetic testing of sperm donors in China: a survey of current practices. Frontiers in Endocrinology (2023).
3. A data-driven evaluation of the size and content of expanded carrier screening panels. Genetics in Medicine (2019).
4. The evolving landscape of expanded carrier screening: challenges and opportunities. Genetics in Medicine (2018).
5. Carrier screening by next‐generation sequencing: health benefits and cost effectiveness. Molecular Genetics & Genomic Medicine (2016).