A range of population frequencies is compatible with the observed frequency in large databases. P(disease|genotype) refers to the probability of developing disease given that an individual has a certain genotype. For the current state of knowledge in Dravet Syndrome, the possible population frequencies make the precise estimate of the probability for disease on the basis of the genotype hard to estimate. This is a dilemma if we want to push the boundary and implement screening programs. Discovery of additional risk factors, either genetic or non-genetic might help to select subgroups of individuals with a particularly high risk.
Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany