CMS-02 Preventing amyotrophic lateral sclerosis (ALS) through reproductive genetic testing: costs and complexities

Reducing incidence of ALS is only currently possible in families with a known pathogenic ALS gene variant, through reproductive options that prevent variants being inherited. Options include pre-implantation genetic diagnosis (PGD, through IVF) and prenatal diagnosis (PND, with a view to terminate an affected pregnancy). Individuals may also choose not to confirm their carrier status and access PGD or PND by exclusion or non-disclosure. Care of individuals deciding about these options relies on decision-making that aligns with their personal values, through genetic counselling. The goal of genetic counselling is not to reduce inherited disease prevalence but to promote informed choices and increase personal control, whilst minimising psychological distress. Uptake of genetic counselling, predictive and reproductive genetic testing is low amongst familial ALS (FALS) families. In addition, certain tests can be costly to individuals (eg. PGD).