Responsible implementation of expanded carrier screening

摘要: This document of the European Society Human Genetics contains recommendations regarding responsible implementation expanded carrier screening. Carrier screening is defined here as detection status recessive diseases in couples or persons who do not have an a priori increased risk being based on their partners' personal family history. Expanded offers for multiple autosomal and X-linked disorders, facilitated by new genetic testing technologies, allows individuals regardless ancestry geographic origin. aims to identify having affected child order facilitate informed reproductive decision making. In previous decades, was typically performed one few relatively common disorders associated with significant morbidity, reduced life-expectancy often because considerable higher frequency specific population certain diseases. New technologies enable expansion conditions, genes sequence variants. panels that been introduced date advertised offered health care professionals public commercial basis. discusses challenges might pose context lessons learnt from decades population-based existing criteria. It contribute professional discussion arrive at better clinical laboratory practice guidelines.