Genetic Testing for Parkinson Disease: Are We Ready?

Journal

Neurology. Clinical practice
ISSN: 2163-0402
Titre abrégé: Neurol Clin Pract
Pays: United States
ID NLM: 101577149

Informations de publication

Date de publication:
Feb 2021
Historique:
received: 14 10 2019
accepted: 07 02 2020
entrez: 10 5 2021
pubmed: 11 5 2021
medline: 11 5 2021
Statut: ppublish

Résumé

With the advent of precision medicine and demand for genomic testing information, we may question whether it is time to offer genetic testing to our patients with Parkinson disease (PD). This review updates the current genetic landscape of PD, describes what genetic testing may offer, provides strategies for evaluating whom to test, and provides resources for the busy clinician. Patients with PD and their relatives, in various settings, have expressed an interest in learning their PD genetic status; however, physicians may be hesitant to widely offer testing due to the perceived low clinical utility of PD genetic test results. The rise of clinical trials available for patients with gene-specific PD and emerging information on genotype-phenotype correlations are starting to shift this discussion about testing. By learning more about the various genetic testing options for PD and utility of results for patients and their care, clinicians may become more comfortable with widespread PD genetic testing in the research and clinical setting.

Identifiants

DOI: 10.1212/CPJ.0000000000000831 PMID: 33968475 PMC: PMC8101316
pubmed: 33968475
doi: 10.1212/CPJ.0000000000000831
pii: NEURCLINPRACT2019046797
pmc: PMC8101316
doi:

Types de publication

Journal Article Review

Langues

eng

Pagination

69-77

Informations de copyright

© 2020 American Academy of Neurology.

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Auteurs

Lola Cook (L)

Department of Medical and Molecular Genetics (LC, JS, TF), Indiana University School of Medicine, Indianapolis; The Michael J. Fox Foundation for Parkinson's Research (CK, TH), New York; Parkinson's Foundation (AN), Miami, FL; Department of Neurology (JW, KP), Indiana University School of Medicine, Indianapolis; Department of Neurology (RNA), Columbia University Irving Medical Center, New York; Institute of Neurogenetics (CK), University of Lübeck, Germany; Department of Neurology (RS-P), Mount Sinai Beth Israel, New York; and Parkinson's Disease and Movement Disorders Center (TS), Northwestern University Feinberg School of Medicine, Chicago IL.

Jeanine Schulze (J)

Department of Medical and Molecular Genetics (LC, JS, TF), Indiana University School of Medicine, Indianapolis; The Michael J. Fox Foundation for Parkinson's Research (CK, TH), New York; Parkinson's Foundation (AN), Miami, FL; Department of Neurology (JW, KP), Indiana University School of Medicine, Indianapolis; Department of Neurology (RNA), Columbia University Irving Medical Center, New York; Institute of Neurogenetics (CK), University of Lübeck, Germany; Department of Neurology (RS-P), Mount Sinai Beth Israel, New York; and Parkinson's Disease and Movement Disorders Center (TS), Northwestern University Feinberg School of Medicine, Chicago IL.

Catherine Kopil (C)

Department of Medical and Molecular Genetics (LC, JS, TF), Indiana University School of Medicine, Indianapolis; The Michael J. Fox Foundation for Parkinson's Research (CK, TH), New York; Parkinson's Foundation (AN), Miami, FL; Department of Neurology (JW, KP), Indiana University School of Medicine, Indianapolis; Department of Neurology (RNA), Columbia University Irving Medical Center, New York; Institute of Neurogenetics (CK), University of Lübeck, Germany; Department of Neurology (RS-P), Mount Sinai Beth Israel, New York; and Parkinson's Disease and Movement Disorders Center (TS), Northwestern University Feinberg School of Medicine, Chicago IL.

Tara Hastings (T)

Department of Medical and Molecular Genetics (LC, JS, TF), Indiana University School of Medicine, Indianapolis; The Michael J. Fox Foundation for Parkinson's Research (CK, TH), New York; Parkinson's Foundation (AN), Miami, FL; Department of Neurology (JW, KP), Indiana University School of Medicine, Indianapolis; Department of Neurology (RNA), Columbia University Irving Medical Center, New York; Institute of Neurogenetics (CK), University of Lübeck, Germany; Department of Neurology (RS-P), Mount Sinai Beth Israel, New York; and Parkinson's Disease and Movement Disorders Center (TS), Northwestern University Feinberg School of Medicine, Chicago IL.

Anna Naito (A)

Department of Medical and Molecular Genetics (LC, JS, TF), Indiana University School of Medicine, Indianapolis; The Michael J. Fox Foundation for Parkinson's Research (CK, TH), New York; Parkinson's Foundation (AN), Miami, FL; Department of Neurology (JW, KP), Indiana University School of Medicine, Indianapolis; Department of Neurology (RNA), Columbia University Irving Medical Center, New York; Institute of Neurogenetics (CK), University of Lübeck, Germany; Department of Neurology (RS-P), Mount Sinai Beth Israel, New York; and Parkinson's Disease and Movement Disorders Center (TS), Northwestern University Feinberg School of Medicine, Chicago IL.

Joanne Wojcieszek (J)

Department of Medical and Molecular Genetics (LC, JS, TF), Indiana University School of Medicine, Indianapolis; The Michael J. Fox Foundation for Parkinson's Research (CK, TH), New York; Parkinson's Foundation (AN), Miami, FL; Department of Neurology (JW, KP), Indiana University School of Medicine, Indianapolis; Department of Neurology (RNA), Columbia University Irving Medical Center, New York; Institute of Neurogenetics (CK), University of Lübeck, Germany; Department of Neurology (RS-P), Mount Sinai Beth Israel, New York; and Parkinson's Disease and Movement Disorders Center (TS), Northwestern University Feinberg School of Medicine, Chicago IL.

Katelyn Payne (K)

Department of Medical and Molecular Genetics (LC, JS, TF), Indiana University School of Medicine, Indianapolis; The Michael J. Fox Foundation for Parkinson's Research (CK, TH), New York; Parkinson's Foundation (AN), Miami, FL; Department of Neurology (JW, KP), Indiana University School of Medicine, Indianapolis; Department of Neurology (RNA), Columbia University Irving Medical Center, New York; Institute of Neurogenetics (CK), University of Lübeck, Germany; Department of Neurology (RS-P), Mount Sinai Beth Israel, New York; and Parkinson's Disease and Movement Disorders Center (TS), Northwestern University Feinberg School of Medicine, Chicago IL.

Roy N Alcalay (RN)

Department of Medical and Molecular Genetics (LC, JS, TF), Indiana University School of Medicine, Indianapolis; The Michael J. Fox Foundation for Parkinson's Research (CK, TH), New York; Parkinson's Foundation (AN), Miami, FL; Department of Neurology (JW, KP), Indiana University School of Medicine, Indianapolis; Department of Neurology (RNA), Columbia University Irving Medical Center, New York; Institute of Neurogenetics (CK), University of Lübeck, Germany; Department of Neurology (RS-P), Mount Sinai Beth Israel, New York; and Parkinson's Disease and Movement Disorders Center (TS), Northwestern University Feinberg School of Medicine, Chicago IL.
ORCID: 0000-0002-5717-4875

Christine Klein (C)

Department of Medical and Molecular Genetics (LC, JS, TF), Indiana University School of Medicine, Indianapolis; The Michael J. Fox Foundation for Parkinson's Research (CK, TH), New York; Parkinson's Foundation (AN), Miami, FL; Department of Neurology (JW, KP), Indiana University School of Medicine, Indianapolis; Department of Neurology (RNA), Columbia University Irving Medical Center, New York; Institute of Neurogenetics (CK), University of Lübeck, Germany; Department of Neurology (RS-P), Mount Sinai Beth Israel, New York; and Parkinson's Disease and Movement Disorders Center (TS), Northwestern University Feinberg School of Medicine, Chicago IL.

Rachel Saunders-Pullman (R)

Department of Medical and Molecular Genetics (LC, JS, TF), Indiana University School of Medicine, Indianapolis; The Michael J. Fox Foundation for Parkinson's Research (CK, TH), New York; Parkinson's Foundation (AN), Miami, FL; Department of Neurology (JW, KP), Indiana University School of Medicine, Indianapolis; Department of Neurology (RNA), Columbia University Irving Medical Center, New York; Institute of Neurogenetics (CK), University of Lübeck, Germany; Department of Neurology (RS-P), Mount Sinai Beth Israel, New York; and Parkinson's Disease and Movement Disorders Center (TS), Northwestern University Feinberg School of Medicine, Chicago IL.

Tatyana Simuni (T)

Department of Medical and Molecular Genetics (LC, JS, TF), Indiana University School of Medicine, Indianapolis; The Michael J. Fox Foundation for Parkinson's Research (CK, TH), New York; Parkinson's Foundation (AN), Miami, FL; Department of Neurology (JW, KP), Indiana University School of Medicine, Indianapolis; Department of Neurology (RNA), Columbia University Irving Medical Center, New York; Institute of Neurogenetics (CK), University of Lübeck, Germany; Department of Neurology (RS-P), Mount Sinai Beth Israel, New York; and Parkinson's Disease and Movement Disorders Center (TS), Northwestern University Feinberg School of Medicine, Chicago IL.

Tatiana Foroud (T)

Department of Medical and Molecular Genetics (LC, JS, TF), Indiana University School of Medicine, Indianapolis; The Michael J. Fox Foundation for Parkinson's Research (CK, TH), New York; Parkinson's Foundation (AN), Miami, FL; Department of Neurology (JW, KP), Indiana University School of Medicine, Indianapolis; Department of Neurology (RNA), Columbia University Irving Medical Center, New York; Institute of Neurogenetics (CK), University of Lübeck, Germany; Department of Neurology (RS-P), Mount Sinai Beth Israel, New York; and Parkinson's Disease and Movement Disorders Center (TS), Northwestern University Feinberg School of Medicine, Chicago IL.

Classifications MeSH