The GCSS has been used to evaluate genetic counseling for melanoma genomic risk [22], acute intermittent porphyria caused by mutations in the hydroxymethylbilane gene [23], prenatal genetic counseling [24], pancreatic cancer with the presence of CDKN2A [25], Lynch syndrome [26], coronary heart disease genomic risk [27], multiple sclerosis [28], Down syndrome [29] and breast and ovarian cancers [30]. This evidence concerns the gene CDKN2A and Down syndrome.