Evidence-based consensus guidelines for ALS genetic testing and counseling

被引:10
|
作者
Roggenbuck, Jennifer [1 ,2 ,6 ]
Eubank, Breda H. F. [3 ]
Wright, Joshua [2 ]
Harms, Matthew B. [4 ]
Kolb, Stephen J. [2 ,5 ]
机构
[1] Ohio State Univ, Wexner Med Ctr, Dept Internal Med, Div Human Genet, Columbus, OH USA
[2] Ohio State Univ, Wexner Med Ctr, Dept Neurol, Columbus, OH USA
[3] Mt Royal Univ, Fac Hlth Community & Educ, Hlth & Phys Educ Dept, 4825 Mt Royal Gate SW, Calgary, AB, Canada
[4] Columbia Univ, Vagelos Coll Phys & Surg, Dept Neurol, New York, NY USA
[5] Ohio State Univ, Dept Biol Chem & Pharmacol, Wexner Med Ctr, Columbus, OH USA
[6] Ohio State Univ, Wexner Med Ctr, 395 W12th Ave, 7th Floor, Columbus, OH 43210 USA
来源
关键词
AMYOTROPHIC-LATERAL-SCLEROSIS; REPEAT EXPANSIONS; FRONTOTEMPORAL DEMENTIA; DELPHI TECHNIQUE; C9ORF72; DISEASE; CLASSIFICATION; MANAGEMENT; UPDATE; CARE;
D O I
10.1002/acn3.51895
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Objective: Advances in amyotrophic lateral sclerosis (ALS) gene discovery, ongoing gene therapy trials, and patient demand have driven increased use of ALS genetic testing. Despite this progress, the offer of genetic testing to persons with ALS is not yet "standard of care." Our primary goal is to develop clinical ALS genetic counseling and testing guidelines to improve and standardize genetic counseling and testing practice among neurologists, genetic counselors or any provider caring for persons with ALS. Methods: Core clinical questions were identified and a rapid review performed according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA-P) 2015 method. Guideline recommendations were drafted and the strength of evidence for each recommendation was assessed by combining two systems: the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) System and the Evaluation of Genomic Applications in Practice and Prevention (EGAPP). A modified Delphi approach was used to reach consensus among a group of content experts for each guideline statement. Results: A total of 35 guideline statements were developed. In summary, all persons with ALS should be offered single-step genetic testing, consisting of a C9orf72 assay, along with sequencing of SOD1, FUS, and TARDBP, at a minimum. The key education and genetic risk assessments that should be provided before and after testing are delineated. Specific guidance regarding testing methods and reporting for C9orf72 and other genes is provided for commercial laboratories. Interpretation: These evidence-based, consensus guidelines will support all stakeholders in the ALS community in navigating benefits and challenges of genetic testing.
引用
收藏
页码:2074 / 2091
页数:18
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