Expanded carrier screening in a reproductive context. Towards a responsible implementation in the healthcare system (SHC 9240) (March 2017)
In this advisory report, the Superior Health Council of Belgium provides recommendations on the criteria that need to be applied in preconceptual genetic testing for severe autosomal and X-linked recessive diseases for couples planning a pregnancy. This report aims at providing healthcare authorities and healthcare professionals with specific recommendations on the scientific and ethical issues that need to be considered in view of a responsible implementation of preconceptual genetic testing in a reproductive context. The report specifically discusses the framework underpinning the appropriate introduction of such testing and suggests inclusion criteria for diseases that could be targeted by the screening process: (i) severity, (ii) age of onset, (iii) prevalence, (iv) selection of mutations based on clinical significance and (v) treatability.