Search

LEGAL ASPECTS RELATING TO PRENATAL DIAGNOSIS The guidance also clarifies legal aspects in relation to termination of pregnancy for a germline cancer susceptibility gene variant. Prenatal and pre-implantation genetic testing for monogenic disorders for germline cancer susceptibility gene variants: UK joint consensus guidance Although it is anticipated that there would be fewer requests for prenatal diagnosis or PGT-M for moderate penetrance genes and sex-specific variable penetrance genes, sensitive reproductive counselling by an appropriately trained genetic/genomic healthcare professional and case discussion in multidisciplinary forums is recommended. Testing for germline pathogenic variants in cancer susceptibility genes is now commonplace and routine practice, in order to guide management of individuals with cancer and to determine surveillance and risk-reduction options for those at increased genetic risk. [Extracted from the article]

This led to a public consultation in 2006 on PGD for later-onset cancer susceptibility conditions, hereditary breast and ovarian cancer associated with BRCA1 and BRCA2 pathogenic variants and Lynch syndrome caused by pathogenic mismatch repair gene variants. Mutation detection in patients with advanced cancer by universal sequencing of cancer-related genes in tumor and normal DNA vs guideline-based germline testing. Multi-gene panel testing has led to identification of individuals with pathogenic variants in cancer susceptibility genes.1 For a minority of these syndromes, risks are well-established and discussion regarding options of pre-implantation genetic diagnosis (PGD) and prenatal diagnosis (PND) has been advocated by healthcare professionals, legal bodies and the public. [Extracted from the article]