Evidence map›Paper›PMID 37691292›Full record

ArticleAnnals of clinical and translational neurology2023

Evidence-based consensus guidelines for ALS genetic testing and counseling.

Jennifer Roggenbuck, Breda H F Eubank, Joshua Wright, Matthew B Harms, Stephen J Kolb, ALS Genetic Testing and Counseling Guidelines Expert Panel

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of clinical and translational neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed, 2 pooled it
8.8field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

29 citing papers in PubMed, 2 syntheses or guidelines pooled it, 43 citations in OpenAlex.

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  18. Practice Recommendations for Genetic Testing of Ataxias.Annals of clinical and translational neurology · 2025
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 4 institutions in 2 countries.

Jennifer RoggenbuckDivision of Human Genetics, Department of Internal Medicine, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.ORCID 0000-0002-6583-9996
Breda H F EubankHealth & Physical Education Department, Faculty of Health, Community, & Education, Mount Royal University, 4825 Mount Royal Gate SW, Calgary, Alberta, Canada.
Joshua WrightDepartment of Neurology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Matthew B HarmsDepartment of Neurology, Columbia University Vagelos College of Physicians and Surgeons, New York, New York, USA.
Stephen J KolbDepartment of Neurology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
ALS Genetic Testing and Counseling Guidelines Expert Panel
The Ohio State University Wexner Medical Center · USColumbia University · USLackland Independent School District · USMount Royal University · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveAdvances 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.

methodsCore 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.

resultsA 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.

interpretationThese evidence-based, consensus guidelines will support all stakeholders in the ALS community in navigating benefits and challenges of genetic testing.

Indexed as

Amyotrophic Lateral SclerosisC9orf72 ProteinCounselingGenetic TestingHumansMeta-Analysis as TopicSystematic Reviews as TopicC9orf72 Protein

Identifiers

PMID37691292
PMCPMC10646996
OpenAlexW4386592991

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.