. 2021 Nov:92:107-111.

doi: 10.1016/j.parkreldis.2021.10.001. Epub 2021 Oct 19.

The commercial genetic testing landscape for Parkinson's disease

Collaborators, Affiliations

Collaborators

Alexis Brice⁷, Amasi Kumeh³, Andrew B West⁸, Andrew Singleton⁹, Anna Naito³, Birgitt Schüle¹⁰, Brian Fiske¹¹, Carolin Gabbert⁶, Christine Klein⁶, Connie Marras¹², Cornelis Blauwendraat⁹, Courtney Thaxton¹³, Dario Alessi¹⁴, David Craig¹⁵, Edward A Fon¹⁶, Emily Forbes¹⁷, Enza Maria Valente¹⁸, Esther Sammler¹⁴, Gill Chao¹⁹, Giulietta Riboldi²⁰, Houda Zghal Elloumi²¹, Ignacio Mata²², James C Beck³, Jamie C Fong²³, Jean-Christophe Corvol²⁴, Jeanine Schulze²⁵, Jennifer Verbrugge²⁵, Joshua Shulman²³, Judith Peterschmitt²⁶, Karen Marder²⁷, Katja Lohmann⁶, Kelly Nudelman²⁵, Lara Lange⁶, Lola Cook²⁵, Mark R Cookson⁹, Martha Nance²⁸, Matthew Farrer²⁹, Melina Grigorian¹⁹, Michael A Schwarzschild³⁰, Niccolo Mencacci³¹, Owen Ross³², Pramod Mistry³³, Priscila Hodges²⁵, Rachel Blake¹⁹, Rachel Saunders-Pullman³⁴, Roy N Alcalay²⁷, S Pablo Sardi¹⁹, Sali Farhan¹⁶, Samuel Strom¹⁹, Shalini Padmanabhan¹¹, Shruthi Mohan³⁵, Simonne Longerich³⁶, Susanne Schneider³⁷, Suzanne Lesage⁷, Tanya Bardakjian³⁸, Tatiana Foroud²⁵, Thomas Courtin⁷, Thomas Tropea³⁸, Yunlong Liu²⁵, Ziv Gan-Or¹⁶, Ali S Shalash³⁹, Anne Hall³, Avner Thaler⁴⁰, Carolyn M Sue⁴¹, Christine Klein⁶, Deborah Mascalzoni⁴², Deborah Raymond³⁴, Emilia Mabel Gatto⁴³, Gian D Pal⁴⁴, Inke König⁴⁵, Ivana Novakovic⁴⁶, Karen Marder²⁷, Marcelo Merello⁴⁷, Mehri Salari⁴⁸, Niccolo Emanuele Mencacci³¹, Nobutaka Hattori⁴⁹, Oksana Suchowersky⁵⁰, Rachel Saunders-Pullman³⁴, Roy N Alcalay²⁷, Soraya Bardien⁵¹, Sun Ju Chung⁵², Tatiana Foroud²⁵, Tatyana Simuni³¹, Timothy Lynch⁵³, Vincenzo Bonifati⁵⁴

Affiliations

¹ Department of Medical and Molecular Genetics (LC, JS, TF), Indiana University School of Medicine, Indianapolis, USA. Electronic address: lpcook@iu.edu.
² Department of Medical and Molecular Genetics (LC, JS, TF), Indiana University School of Medicine, Indianapolis, USA.
³ Parkinson's Foundation, NY, NY, USA.
⁴ Department of Neurology, Columbia University College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.
⁵ Department of Neurology, Mount Sinai Beth Israel, New York, NY, USA.
⁶ Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.
⁷ Institut Du Cerveau et de La Moelle Epinière (ICM), Paris, France.
⁸ Duke University, Durham, NC, USA.
⁹ National Institute on Aging, Bethesda, MD, USA.
¹⁰ Stanford University, Stanford, CA, USA.
¹¹ The Michael J. Fox Foundation for Parkinson's Research, NY, NY, USA.
¹² University of Toronto, Toronto, Ontario, Canada.
¹³ ClinGen Clinical Genome Resource, National Institutes of Health/University of North Carolina, Chapel Hill, NC, USA.
¹⁴ University of Dundee, Dundee, Scotland, United Kingdom.
¹⁵ University of Southern California, Los Angeles, CA, USA.
¹⁶ Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.
¹⁷ UC Health Neurosciences Center - Anschutz Medical Campus, Colorado, CO, USA.
¹⁸ IRCCS Fondazione Mondino, Italy.
¹⁹ Fulgent Genetics, Temple City, CA, USA.
²⁰ NYU Langone Health, NY, NY, USA.
²¹ GeneDx, Gaithersburg, MD, USA.
²² Cleveland Clinic, Cleveland, OH, USA.
²³ Baylor College of Medicine, Houston, TX, USA.
²⁴ Sorbonne University, Paris, France.
²⁵ Indiana University School of Medicine, Indianapolis, IN, USA.
²⁶ Sanofi, Paris, France.
²⁷ Columbia University Irving Medical Center, NY, NY, USA.
²⁸ Struthers Parkinson's Center, MN, USA.
²⁹ University of Florida, FL, USA.
³⁰ Massachusetts General Hospital/Harvard Medical School, Boston, MA, USA.
³¹ Northwestern University, Chicago, IL, USA.
³² Mayo Clinic, Rochester, Minneapolis, MN, USA.
³³ Yale University, New Haven, MA, USA.
³⁴ Mount Sinai Beth Israel, NY, NY, USA.
³⁵ University of North Carolina, Chapel Hill, NC, USA.
³⁶ Biogen, Cambridge, MA, USA.
³⁷ University of Munich, Munich, Germany.
³⁸ University of Pennsylvania, Philadelphia, PA, USA.
³⁹ Department of Neurology, Ain Shams University, Cairo, Egypt.
⁴⁰ Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
⁴¹ University of Sydney, Sydney, Australia.
⁴² EURAC Research, Bolzano, Italy.
⁴³ Sanatorio Trinidad Mitre, Buenos Aires, Argentina.
⁴⁴ Rush University Medical Center, Chicago, IL, USA.
⁴⁵ University of Leubeck, Luebeck, Germany.
⁴⁶ University of Belgrade School of Medicine, Belgrade, Serbia.
⁴⁷ FLENI, Buenos Aires, Argentina.
⁴⁸ Shahid Beheshti University of Medical Science, Tehran, Iran.
⁴⁹ Juntendo University School of Medicine, Tokyo, Japan.
⁵⁰ University of Alberta, Edmonton, Alberta, Canada.
⁵¹ University of Stellenbosch, Cape Town, South Africa.
⁵² Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
⁵³ The Dublin Neurological Institute, Dublin, Ireland.
⁵⁴ Erasmus University Medical Center, Rotterdam, Netherlands.

PMID: 34696975
PMCID: PMC8633166
DOI: 10.1016/j.parkreldis.2021.10.001

The commercial genetic testing landscape for Parkinson's disease

Lola Cook et al. Parkinsonism Relat Disord. 2021 Nov.

. 2021 Nov:92:107-111.

doi: 10.1016/j.parkreldis.2021.10.001. Epub 2021 Oct 19.

Authors

Collaborators

Alexis Brice⁷, Amasi Kumeh³, Andrew B West⁸, Andrew Singleton⁹, Anna Naito³, Birgitt Schüle¹⁰, Brian Fiske¹¹, Carolin Gabbert⁶, Christine Klein⁶, Connie Marras¹², Cornelis Blauwendraat⁹, Courtney Thaxton¹³, Dario Alessi¹⁴, David Craig¹⁵, Edward A Fon¹⁶, Emily Forbes¹⁷, Enza Maria Valente¹⁸, Esther Sammler¹⁴, Gill Chao¹⁹, Giulietta Riboldi²⁰, Houda Zghal Elloumi²¹, Ignacio Mata²², James C Beck³, Jamie C Fong²³, Jean-Christophe Corvol²⁴, Jeanine Schulze²⁵, Jennifer Verbrugge²⁵, Joshua Shulman²³, Judith Peterschmitt²⁶, Karen Marder²⁷, Katja Lohmann⁶, Kelly Nudelman²⁵, Lara Lange⁶, Lola Cook²⁵, Mark R Cookson⁹, Martha Nance²⁸, Matthew Farrer²⁹, Melina Grigorian¹⁹, Michael A Schwarzschild³⁰, Niccolo Mencacci³¹, Owen Ross³², Pramod Mistry³³, Priscila Hodges²⁵, Rachel Blake¹⁹, Rachel Saunders-Pullman³⁴, Roy N Alcalay²⁷, S Pablo Sardi¹⁹, Sali Farhan¹⁶, Samuel Strom¹⁹, Shalini Padmanabhan¹¹, Shruthi Mohan³⁵, Simonne Longerich³⁶, Susanne Schneider³⁷, Suzanne Lesage⁷, Tanya Bardakjian³⁸, Tatiana Foroud²⁵, Thomas Courtin⁷, Thomas Tropea³⁸, Yunlong Liu²⁵, Ziv Gan-Or¹⁶, Ali S Shalash³⁹, Anne Hall³, Avner Thaler⁴⁰, Carolyn M Sue⁴¹, Christine Klein⁶, Deborah Mascalzoni⁴², Deborah Raymond³⁴, Emilia Mabel Gatto⁴³, Gian D Pal⁴⁴, Inke König⁴⁵, Ivana Novakovic⁴⁶, Karen Marder²⁷, Marcelo Merello⁴⁷, Mehri Salari⁴⁸, Niccolo Emanuele Mencacci³¹, Nobutaka Hattori⁴⁹, Oksana Suchowersky⁵⁰, Rachel Saunders-Pullman³⁴, Roy N Alcalay²⁷, Soraya Bardien⁵¹, Sun Ju Chung⁵², Tatiana Foroud²⁵, Tatyana Simuni³¹, Timothy Lynch⁵³, Vincenzo Bonifati⁵⁴

Affiliations

¹ Department of Medical and Molecular Genetics (LC, JS, TF), Indiana University School of Medicine, Indianapolis, USA. Electronic address: lpcook@iu.edu.
² Department of Medical and Molecular Genetics (LC, JS, TF), Indiana University School of Medicine, Indianapolis, USA.
³ Parkinson's Foundation, NY, NY, USA.
⁴ Department of Neurology, Columbia University College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.
⁵ Department of Neurology, Mount Sinai Beth Israel, New York, NY, USA.
⁶ Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.
⁷ Institut Du Cerveau et de La Moelle Epinière (ICM), Paris, France.
⁸ Duke University, Durham, NC, USA.
⁹ National Institute on Aging, Bethesda, MD, USA.
¹⁰ Stanford University, Stanford, CA, USA.
¹¹ The Michael J. Fox Foundation for Parkinson's Research, NY, NY, USA.
¹² University of Toronto, Toronto, Ontario, Canada.
¹³ ClinGen Clinical Genome Resource, National Institutes of Health/University of North Carolina, Chapel Hill, NC, USA.
¹⁴ University of Dundee, Dundee, Scotland, United Kingdom.
¹⁵ University of Southern California, Los Angeles, CA, USA.
¹⁶ Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.
¹⁷ UC Health Neurosciences Center - Anschutz Medical Campus, Colorado, CO, USA.
¹⁸ IRCCS Fondazione Mondino, Italy.
¹⁹ Fulgent Genetics, Temple City, CA, USA.
²⁰ NYU Langone Health, NY, NY, USA.
²¹ GeneDx, Gaithersburg, MD, USA.
²² Cleveland Clinic, Cleveland, OH, USA.
²³ Baylor College of Medicine, Houston, TX, USA.
²⁴ Sorbonne University, Paris, France.
²⁵ Indiana University School of Medicine, Indianapolis, IN, USA.
²⁶ Sanofi, Paris, France.
²⁷ Columbia University Irving Medical Center, NY, NY, USA.
²⁸ Struthers Parkinson's Center, MN, USA.
²⁹ University of Florida, FL, USA.
³⁰ Massachusetts General Hospital/Harvard Medical School, Boston, MA, USA.
³¹ Northwestern University, Chicago, IL, USA.
³² Mayo Clinic, Rochester, Minneapolis, MN, USA.
³³ Yale University, New Haven, MA, USA.
³⁴ Mount Sinai Beth Israel, NY, NY, USA.
³⁵ University of North Carolina, Chapel Hill, NC, USA.
³⁶ Biogen, Cambridge, MA, USA.
³⁷ University of Munich, Munich, Germany.
³⁸ University of Pennsylvania, Philadelphia, PA, USA.
³⁹ Department of Neurology, Ain Shams University, Cairo, Egypt.
⁴⁰ Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
⁴¹ University of Sydney, Sydney, Australia.
⁴² EURAC Research, Bolzano, Italy.
⁴³ Sanatorio Trinidad Mitre, Buenos Aires, Argentina.
⁴⁴ Rush University Medical Center, Chicago, IL, USA.
⁴⁵ University of Leubeck, Luebeck, Germany.
⁴⁶ University of Belgrade School of Medicine, Belgrade, Serbia.
⁴⁷ FLENI, Buenos Aires, Argentina.
⁴⁸ Shahid Beheshti University of Medical Science, Tehran, Iran.
⁴⁹ Juntendo University School of Medicine, Tokyo, Japan.
⁵⁰ University of Alberta, Edmonton, Alberta, Canada.
⁵¹ University of Stellenbosch, Cape Town, South Africa.
⁵² Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
⁵³ The Dublin Neurological Institute, Dublin, Ireland.
⁵⁴ Erasmus University Medical Center, Rotterdam, Netherlands.

PMID: 34696975
PMCID: PMC8633166
DOI: 10.1016/j.parkreldis.2021.10.001

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

PubMed Disclaimer

Conflict of interest statement

Declaration of competing interests: None

Figures

**Figure 1.**
Monogenic Causes of Typical Parkinson’s Disease *Some researchers classify variants in this gene as major risk factors.

**Figure 2.**
Genes Offered on PD Panels Bubble plot of genes offered on general diagnostic panels of the 11 companies analyzed. Bubble size corresponds to the frequency a particular gene appears across panels. The genes *SNCA, PRKN, PINK1, PARK7* and *LRRK2* were most common and offered across all panels. GBA, a gene carrying significant risk for PD, was not consistently offered and only appeared on 8 panels, whereas other genes *FBOX07* (atypical parkinsonism) and *SLC6A3* (infantile parkinsonism-dystonia) appear more frequently.

See this image and copyright information in PMC

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The commercial genetic testing landscape for Parkinson's disease

Collaborators

Affiliations

The commercial genetic testing landscape for Parkinson's disease

Authors

Collaborators

Affiliations

Abstract

Conflict of interest statement

Figures

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Medical

Miscellaneous