Literature DB >> 33968475

Genetic Testing for Parkinson Disease: Are We Ready?

Lola Cook1, Jeanine Schulze1, Catherine Kopil1, Tara Hastings1, Anna Naito1, Joanne Wojcieszek1, Katelyn Payne1, Roy N Alcalay1, Christine Klein1, Rachel Saunders-Pullman1, Tatyana Simuni1, Tatiana Foroud1.   

Abstract

PURPOSE OF REVIEW: 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. RECENT
FINDINGS: 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.
SUMMARY: 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.
© 2020 American Academy of Neurology.

Entities:  

Year:  2021        PMID: 33968475      PMCID: PMC8101316          DOI: 10.1212/CPJ.0000000000000831

Source DB:  PubMed          Journal:  Neurol Clin Pract        ISSN: 2163-0402


  28 in total

Review 1.  Global trends on fears and concerns of genetic discrimination: a systematic literature review.

Authors:  Annet Wauters; Ine Van Hoyweghen
Journal:  J Hum Genet       Date:  2016-01-07       Impact factor: 3.172

Review 2.  Epidemiology of Parkinson's disease.

Authors:  Ole-Bjørn Tysnes; Anette Storstein
Journal:  J Neural Transm (Vienna)       Date:  2017-02-01       Impact factor: 3.575

Review 3.  Genetics of Parkinson's disease.

Authors:  Christina M Lill
Journal:  Mol Cell Probes       Date:  2016-11-04       Impact factor: 2.365

4.  Distress, uncertainty, and positive experiences associated with receiving information on personal genomic risk of melanoma.

Authors:  Amelia K Smit; Ainsley J Newson; Megan Best; Caro-Anne Badcock; Phyllis N Butow; Judy Kirk; Kate Dunlop; Georgina Fenton; Anne E Cust
Journal:  Eur J Hum Genet       Date:  2018-04-30       Impact factor: 4.246

5.  Differential effects of severe vs mild GBA mutations on Parkinson disease.

Authors:  Ziv Gan-Or; Idan Amshalom; Laura L Kilarski; Anat Bar-Shira; Mali Gana-Weisz; Anat Mirelman; Karen Marder; Susan Bressman; Nir Giladi; Avi Orr-Urtreger
Journal:  Neurology       Date:  2015-02-04       Impact factor: 9.910

Review 6.  Genetic Forms of Parkinson's Disease.

Authors:  Christine Y Kim; Roy N Alcalay
Journal:  Semin Neurol       Date:  2017-05-16       Impact factor: 3.420

7.  The Promise and Pitfalls of Facebook Advertising: a Genetic Counselor's Perspective.

Authors:  Jennifer Verbrugge; Malia Rumbaugh; Lola Cook; Jeanine Schulze; Mandy Miller; Laura Heathers; Vanessa Arnedo; Maggie McGuire Kuhl; Tatiana Foroud
Journal:  J Genet Couns       Date:  2018-02-02       Impact factor: 2.537

8.  Genotype-phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review.

Authors:  Joanne Trinh; Florentine M J Zeldenrust; Jana Huang; Meike Kasten; Susen Schaake; Sonja Petkovic; Harutyun Madoev; Anne Grünewald; Shahad Almuammar; Inke R König; Christina M Lill; Katja Lohmann; Christine Klein; Connie Marras
Journal:  Mov Disord       Date:  2018-10-24       Impact factor: 10.338

9.  The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru.

Authors:  Carlos Velez-Pardo; Oswaldo Lorenzo-Betancor; Marlene Jimenez-Del-Rio; Sonia Moreno; Francisco Lopera; Mario Cornejo-Olivas; Luis Torres; Miguel Inca-Martinez; Pilar Mazzetti; Carlos Cosentino; Dora Yearout; Sarah M Waldherr; Cyrus P Zabetian; Ignacio F Mata
Journal:  Parkinsonism Relat Disord       Date:  2019-02-04       Impact factor: 4.891

10.  Novel recruitment strategy to enrich for LRRK2 mutation carriers.

Authors:  Tatiana Foroud; Danielle Smith; Jacqueline Jackson; Jennifer Verbrugge; Cheryl Halter; Leah Wetherill; Katherine Sims; Winnie Xin; Vanessa Arnedo; Shirley Lasch; Kenneth Marek
Journal:  Mol Genet Genomic Med       Date:  2015-05-06       Impact factor: 2.183

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  3 in total

1.  The understanding of Parkinson's disease through genetics and new therapies.

Authors:  Olivier Uwishema; Helen Onyeaka; Rawa Badri; Ayşe Nazlı Yücel; Ahmet Kayhan Korkusuz; Abayomi Oyeyemi Ajagbe; Amro Abuleil; Céline Chaaya; Baraa H M Alhendawi; Elie Chalhoub
Journal:  Brain Behav       Date:  2022-04-21       Impact factor: 3.405

2.  The commercial genetic testing landscape for Parkinson's disease.

Authors:  Lola Cook; Jeanine Schulze; Jennifer Verbrugge; James C Beck; Karen S Marder; Rachel Saunders-Pullman; Christine Klein; Anna Naito; Roy N Alcalay
Journal:  Parkinsonism Relat Disord       Date:  2021-10-19       Impact factor: 4.891

Review 3.  Monogenic Parkinson's Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing.

Authors:  Fangzhi Jia; Avi Fellner; Kishore Raj Kumar
Journal:  Genes (Basel)       Date:  2022-03-07       Impact factor: 4.096

  3 in total

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