Tools for communicating risk for Parkinson’s disease

Cook, Lola; Schulze, Jeanine; Uhlmann, Wendy R.; Verbrugge, Jennifer; Marder, Karen; Lee, Annie; Wang, Yuanjia; Alcalay, Roy N.; Nance, Martha; Beck, James C.

doi:10.1038/s41531-022-00432-6

Cited by 10 publications

(10 citation statements)

References 33 publications

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“…Most commercial genetic testing panels are largely limited to monogenic causes of familial PD. 18 Moreover, such panels often include genes with limited evidence or omit more recently discovered loci. By contrast, genome sequencing offers more comprehensive genetic analysis.…”

Section: Discussionmentioning

confidence: 99%

“…The available tests also vary widely in the number of genes and variants tested, frequently include loci with uncertain evidence, and do not include common genetic variants or assess a genetic risk score. 18 Compared with targeted panel assays, genome sequencing comprehensively examines both rare and common variants in most genes. In addition, results can be readily filtered and reported based on all available evidence, making possible iterative analytic updates following new discoveries and without requiring an additional blood draw or new data generation.…”

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confidence: 99%

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Genome Sequencing in the Parkinson Disease Clinic

et al. 2022

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Background and ObjectivesGenetic variants affect both Parkinson disease (PD) risk and manifestations. Although genetic information is of potential interest to patients and clinicians, genetic testing is rarely performed during routine PD clinical care. The goal of this study was to examine interest in comprehensive genetic testing among patients with PD and document reactions to possible findings from genome sequencing in 2 academic movement disorder clinics.MethodsIn 203 subjects with PD (age = 63 years, 67% male), genome sequencing was performed and filtered using a custom panel, including 49 genes associated with PD, parkinsonism, or related disorders, as well as a 90-variant PD genetic risk score. Based on the results, 231 patients (age = 67 years, 63% male) were surveyed on interest in genetic testing and responses to vignettes covering (1) familial risk of PD (LRRK2); (2) risk of PD dementia (GBA); (3) PD genetic risk score; and (4) secondary, medically actionable variants (BRCA1).ResultsGenome sequencing revealed a LRRK2 variant in 3% and a GBA risk variant in 10% of our clinical sample. The genetic risk score was normally distributed, identifying 41 subjects with a high risk of PD. Medically actionable findings were discovered in 2 subjects (1%). In our survey, the majority (82%) responded that they would share a LRRK2 variant with relatives. Most registered unchanged or increased interest in testing when confronted with a potential risk for dementia or medically actionable findings, and most (75%) expressed interest in learning their PD genetic risk score.DiscussionOur results highlight broad interest in comprehensive genetic testing among patients with PD and may facilitate integration of genome sequencing in clinical practice.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

Genome Sequencing in the Parkinson Disease Clinic

et al. 2022

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“…The 52‐item, multiple‐choice survey was developed by the MDS Task Force on Recommendations for Genetic Testing for PD 11 with six major sections (1) demographics and practice features, (2) individual and regional practices of genetic testing, (3) availability and type of genetic counseling, (4) regional policies and guidelines, (5) pre‐symptomatic testing and counseling, and (6) ethical issues and considerations (S1/S2). A non‐personalized SurveyMonkey link was emailed to 8744 MDS members on January 12, 2021 (http://www.surveymonkey.com/mp/audience) followed by an email reminder; it was closed on February 28, 2021.…”

Section: Methodsmentioning

confidence: 99%

“…We are at a juncture where the demand for genetic testing will likely rise because of both potential therapies and patient choice 7 . There is a need to determine the worldwide landscape of genetic testing and practices for PD, 11,12 with particular focus on potentially surmountable access and barriers to testing across regions and practices.…”

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confidence: 99%

International Genetic Testing and Counseling Practices for Parkinson's Disease

et al. 2023

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BackgroundThere is growing clinical and research utilization of genetic testing in Parkinson's disease (PD), including direct‐to‐consumer testing.ObjectivesThe aim is to determine the international landscape of genetic testing in PD to inform future worldwide recommendations.MethodsA web‐based survey assessing current practices, concerns, and barriers to genetic testing and counseling was administered to the International Parkinson and Movement Disorders Society membership.ResultsCommon hurdles across sites included cost and access to genetic testing, and counseling, as well as education on genetic counseling. Region‐dependent differences in access to and availability of testing and counseling were most notable in Africa. High‐income countries also demonstrated heterogeneity, with European nations more likely to have genetic testing covered through insurance than Pan‐American and Asian countries.ConclusionsThis survey highlights not only diversity of barriers in different regions but also the shared and highly actionable needs for improved education and access to genetic counseling and testing for PD worldwide. © 2023 International Parkinson and Movement Disorder Society.

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“…Currently, seven of the most commonly studied PD genes can be tested readily. 26,27 Genes associated with autosomal dominant PD include genes encoding leucine-rich repeat kinase 2 (LRRK2), 28,29 α-synuclein (SNCA), 30 and VPS35. 31,32 Genes associated with autosomal recessive PD include PRKN, PINK1, and DJ1.…”

Section: Genetic Risk Factorsmentioning

confidence: 99%

Global Epidemiology of Movement Disorders: Rare or Underdiagnosed?

O’Shea

Shih

2023

Semin Neurol

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In this manuscript, we review the epidemiology of movement disorders including Parkinson's disease (PD), atypical parkinsonism, essential tremor, dystonia, functional movement disorders, tic disorders, chorea, and ataxias. We emphasize age-, sex-, and geography-based incidence and prevalence, as well as notable trends including the rising incidence and prevalence of PD. Given the growing global interest in refining clinical diagnostic skills in recognizing movement disorders, we highlight some key epidemiological findings that may be of interest to clinicians and health systems tasked with diagnosing and managing the health of patients with movement disorders.

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Tools for communicating risk for Parkinson’s disease

Cited by 10 publications

References 33 publications

Genome Sequencing in the Parkinson Disease Clinic

Genome Sequencing in the Parkinson Disease Clinic

International Genetic Testing and Counseling Practices for Parkinson's Disease

Global Epidemiology of Movement Disorders: Rare or Underdiagnosed?

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