The commercial genetic testing landscape for Parkinson's disease

Lola Cook; Jeanine Schulze; Jennifer Verbrugge; James C. Beck; Karen S. Marder; Rachel Saunders-Pullman; Christine Klein; Anna Naito; Roy N. Alcalay

doi:10.1016/j.parkreldis.2021.10.001

The commercial genetic testing landscape for Parkinson's disease

Lola Cook (Lead / Corresponding author), Jeanine Schulze, Jennifer Verbrugge, James C. Beck, Karen S. Marder, Rachel Saunders-Pullman, Christine Klein, Anna Naito, Roy N. Alcalay, ,

MRC PPU

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Abstract

Introduction: There have been no specific guidelines regarding which genes should be tested in the clinical setting for Parkinson's disease (PD) or parkinsonism. We evaluated the types of clinical genetic testing offered for PD as the first step of our gene curation.

Methods: The National Institutes of Health (NIH) Genetic Testing Registry (GTR) was queried on 12/7/2020 to identify current commercial PD genetic test offerings by clinical laboratories, internationally.

Results: We identified 502 unique clinical genetic tests for PD, from 28 Clinical Laboratory Improvement Amendments (CLIA)-approved clinical laboratories. These included 11 diagnostic PD panels. The panels were notable for their differences in size, ranging from 5 to 62 genes. Five genes for variant query were included in all panels (SNCA, PRKN, PINK-1, PARK7 (DJ1), and LRRK2). Notably, the addition of the VPS35 and GBA genes was variable. Panel size differences stemmed from inclusion of genes linked to atypical parkinsonism and dystonia disorders, and genes in which the link to PD causation is controversial.

Conclusion: There is an urgent need for expert opinion regarding which genes should be included in a commercial laboratory multi-gene panel for PD.

Original language	English
Pages (from-to)	107-111
Number of pages	5
Journal	Parkinsonism & Related Disorders
Volume	92
Early online date	19 Oct 2021
DOIs	https://doi.org/10.1016/j.parkreldis.2021.10.001
Publication status	Published - Nov 2021

Keywords

Parkinson's disease
Genetic testing
Clinical laboratories
Multi-gene panels

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10.1016/j.parkreldis.2021.10.001Licence: CC BY-NC-ND

Final Published VersionFinal published version, 1.36 MBLicence: CC BY-NC-ND

Bench-to-Bedside Parkinson's Disease Research: Biomarkers in LRRK2 (NHS Research Scotland (NRS) and Scottish Universities Scottish Senior Clinical Academic Fellowship Scheme)
Sammler, E. (Investigator)
7/01/19 → 30/06/24
Project: Research

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title = "The commercial genetic testing landscape for Parkinson's disease",

abstract = "Introduction: There have been no specific guidelines regarding which genes should be tested in the clinical setting for Parkinson's disease (PD) or parkinsonism. We evaluated the types of clinical genetic testing offered for PD as the first step of our gene curation.Methods: The National Institutes of Health (NIH) Genetic Testing Registry (GTR) was queried on 12/7/2020 to identify current commercial PD genetic test offerings by clinical laboratories, internationally.Results: We identified 502 unique clinical genetic tests for PD, from 28 Clinical Laboratory Improvement Amendments (CLIA)-approved clinical laboratories. These included 11 diagnostic PD panels. The panels were notable for their differences in size, ranging from 5 to 62 genes. Five genes for variant query were included in all panels (SNCA, PRKN, PINK-1, PARK7 (DJ1), and LRRK2). Notably, the addition of the VPS35 and GBA genes was variable. Panel size differences stemmed from inclusion of genes linked to atypical parkinsonism and dystonia disorders, and genes in which the link to PD causation is controversial.Conclusion: There is an urgent need for expert opinion regarding which genes should be included in a commercial laboratory multi-gene panel for PD.",

keywords = "Parkinson's disease, Genetic testing, Clinical laboratories, Multi-gene panels",

author = "Lola Cook and Jeanine Schulze and Jennifer Verbrugge and Beck, {James C.} and Marder, {Karen S.} and Rachel Saunders-Pullman and Christine Klein and Anna Naito and Alcalay, {Roy N.} and Dario Alessi",

note = "Copyright {\textcopyright} 2021 The Author(s). Published by Elsevier Ltd.",

year = "2021",

month = nov,

doi = "10.1016/j.parkreldis.2021.10.001",

language = "English",

volume = "92",

pages = "107--111",

journal = "Parkinsonism & Related Disorders",

issn = "1353-8020",

publisher = "Elsevier",

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T1 - The commercial genetic testing landscape for Parkinson's disease

AU - Cook, Lola

AU - Schulze, Jeanine

AU - Verbrugge, Jennifer

AU - Beck, James C.

AU - Marder, Karen S.

AU - Saunders-Pullman, Rachel

AU - Klein, Christine

AU - Naito, Anna

AU - Alcalay, Roy N.

AU - Alessi, Dario

PY - 2021/11

Y1 - 2021/11

N2 - Introduction: There have been no specific guidelines regarding which genes should be tested in the clinical setting for Parkinson's disease (PD) or parkinsonism. We evaluated the types of clinical genetic testing offered for PD as the first step of our gene curation.Methods: The National Institutes of Health (NIH) Genetic Testing Registry (GTR) was queried on 12/7/2020 to identify current commercial PD genetic test offerings by clinical laboratories, internationally.Results: We identified 502 unique clinical genetic tests for PD, from 28 Clinical Laboratory Improvement Amendments (CLIA)-approved clinical laboratories. These included 11 diagnostic PD panels. The panels were notable for their differences in size, ranging from 5 to 62 genes. Five genes for variant query were included in all panels (SNCA, PRKN, PINK-1, PARK7 (DJ1), and LRRK2). Notably, the addition of the VPS35 and GBA genes was variable. Panel size differences stemmed from inclusion of genes linked to atypical parkinsonism and dystonia disorders, and genes in which the link to PD causation is controversial.Conclusion: There is an urgent need for expert opinion regarding which genes should be included in a commercial laboratory multi-gene panel for PD.

AB - Introduction: There have been no specific guidelines regarding which genes should be tested in the clinical setting for Parkinson's disease (PD) or parkinsonism. We evaluated the types of clinical genetic testing offered for PD as the first step of our gene curation.Methods: The National Institutes of Health (NIH) Genetic Testing Registry (GTR) was queried on 12/7/2020 to identify current commercial PD genetic test offerings by clinical laboratories, internationally.Results: We identified 502 unique clinical genetic tests for PD, from 28 Clinical Laboratory Improvement Amendments (CLIA)-approved clinical laboratories. These included 11 diagnostic PD panels. The panels were notable for their differences in size, ranging from 5 to 62 genes. Five genes for variant query were included in all panels (SNCA, PRKN, PINK-1, PARK7 (DJ1), and LRRK2). Notably, the addition of the VPS35 and GBA genes was variable. Panel size differences stemmed from inclusion of genes linked to atypical parkinsonism and dystonia disorders, and genes in which the link to PD causation is controversial.Conclusion: There is an urgent need for expert opinion regarding which genes should be included in a commercial laboratory multi-gene panel for PD.

KW - Parkinson's disease

KW - Genetic testing

KW - Clinical laboratories

KW - Multi-gene panels

U2 - 10.1016/j.parkreldis.2021.10.001

DO - 10.1016/j.parkreldis.2021.10.001

M3 - Article

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SN - 1353-8020

VL - 92

SP - 107

EP - 111

JO - Parkinsonism & Related Disorders

JF - Parkinsonism & Related Disorders

ER -

The commercial genetic testing landscape for Parkinson's disease

Abstract

Keywords

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Bench-to-Bedside Parkinson's Disease Research: Biomarkers in LRRK2 (NHS Research Scotland (NRS) and Scottish Universities Scottish Senior Clinical Academic Fellowship Scheme)

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