Clinical genetic testing in Parkinson's disease should become part of routine patient care

Abstract

This scientific commentary refers to ‘Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson’s Disease Study’ by Westenberger et al. (https://doi.org/10.1093/brain/awae188) and ‘Parkinson’s disease variant detection and disclosure: PD GENEration, a North American study’ by Cook et al. (https://doi.org/10.1093/brain/awae142).

Figure 1

Comparison of seven genes sequenced in both the ROPAD and PD GENEration studies. All seven genes analysed in PD GENEration—GBA1, LRRK2, PRKN, SNCA, VPS35, PINK1 and PARK7—were also analysed in ROPAD. The percentages of patients found to have variants in these genes (rounded in some cases) were very similar in both studies. ‘Non-genetic’ refers to participants without pathogenic/likely pathogenic variants in any of the seven genes. In the ROPAD study, which analysed a total of 50 genes, variants in other genes that can manifest as typical Parkinson’s disease, such as GCH1, GRN and PLA2G6, were also identified. In the figure, the carriers of these variants are included in the ‘non-genetic’ group for the sake of comparison with PD GENEration. GBA1 variants included in the figure are pathogenic and likely pathogenic variants, as well as the known Parkinson’s disease risk variants p.E326K and p.T369M. ‘Multiple genes’ refers to individuals with variants in more than one of these seven genes.