Under what circumstances is a genetic diagnosis useful?

Genetic diagnostics can be important from various perspectives. A frequent reason for genetic diagnostics is the question of the genetic risk for the offspring of an ALS patient. This question arises first and foremost in the case of familial ALS (FALS). If other family members of an ALS patient (in addition to the patient himself) are known to have ALS, it can be assumed that the patient has FALS. In this constellation, genetic diagnostics serve to assess the risk for the offspring of ALS patients. Another reason for genetic diagnostics can be to confirm one’s own diagnosis. This constellation is very rare, as ALS is primarily diagnosed on the basis of physical symptoms (and other examination findings, including MRI, EMG and biomarkers). In the case of very mild symptoms, which are not yet sufficient to make a diagnosis of ALS, and a positive family history of ALS (several family members known to have ALS), genetic testing may be justified in order to make an early diagnosis of ALS.

A key reason for genetic testing is the search for a mutation in the SOD1 gene, as a genetic drug, Tofersen (QALSODY), against SOD1 mutations has been available since 2024. Drugs are also being developed for other genetic mutations (e.g. the FUS or C9orf72 gene). Scientific development and therapeutic research are subject to rapid changes that cannot be captured in book form.

Therefore, with regard to genetic research and study programs, reference should be made to medical consultations in ALS outpatient clinics and the digital media of ALS study institutions.