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Navigating the open sea of commercial genetic testing in Parkinson's disease

      Genetic testing in neurodegenerative diseases, and specifically in Parkinson’ disease, is certainly a hot topic [
      • Cook L.
      • Schulze J.
      • Kopil C.
      • Hastings T.
      • Naito A.
      • Wojcieszek J.
      • Payne K.
      • Alcalay R.N.
      • Klein C.
      • Saunders-Pullman R.
      • Simuni T.
      • Foroud T.
      Genetic testing for Parkinson disease: are we ready?.
      ]. It is not currently widely used, unless in some cases for individuals with a large family history or an unusual early age at onset [
      • Alcalay R.N.
      • Caccappolo E.
      • Mejia-Santana H.
      • Tang M.X.
      • Rosado L.
      • Ross B.M.
      • Verbitsky M.
      • Kisselev S.
      • Louis E.D.
      • Comella C.
      • Colcher A.
      • Jennings D.
      • Nance M.A.
      • Bressman S.B.
      • Scott W.K.
      • Tanner C.
      • Mickel S.
      • Andrews H.
      • Waters C.
      • Fahn S.
      • Cote L.
      • Frucht S.
      • Ford B.
      • Rezak M.
      • Novak K.
      • Friedman J.H.
      • Pfeiffer R.
      • Marsh L.
      • Hiner B.
      • Siderowf A.
      • Ottman R.
      • Marder K.
      • Clark L.N.
      Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study.
      ]. However, this testing may become more commonplace as there are ongoing clinical trials for individuals with PD carrying certain genetic variants in the LRRK2, GBA and PRKN/Pink1 genes [
      • Prasuhn J.
      • Bruggemann N.
      Genotype-driven therapeutic developments in Parkinson's disease.
      ]. Pathogenic variants, particularly in the first two genes, are found quite frequently in certain PD populations [
      • Tolosa E.
      • Vila M.
      • Klein C.
      • Rascol O.
      LRRK2 in Parkinson disease: challenges of clinical trials.
      ,
      • Riboldi G.M.
      • Di Fonzo A.B.
      • Gba
      • Gaucher Disease
      • Parkinson's Disease
      From genetic to clinic to new therapeutic approaches.
      ]. Furthermore, since they are not only associated with familial cases or those with an earlier age at onset, a more routine genetic testing approach is recommended. We can imagine that similar efforts will arise for other genes in the near future.

      Keywords

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