ReviewNeurology2016
Presymptomatic ALS genetic counseling and testing: Experience and recommendations.
Review in Neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 3 of them syntheses that pooled 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.
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.
Who cites it
38 citing papers in PubMed, 3 syntheses or guidelines pooled it, 69 citations in OpenAlex.
- Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review.Journal of neurology · 2022Pooled it
- The imaging signature of C9orf72 hexanucleotide repeat expansions: implications for clinical trials and therapy development.Brain imaging and behavior · 2021Pooled it
- The NGS technology for the identification of genes associated with the ALS. A systematic review.European journal of clinical investigation · 2020Pooled it
- Randomized Noninferiority Trial of Telephone vs In-Person Disclosure of Germline Cancer Genetic Test Results.Journal of the National Cancer Institute · 2018Trial
- Longitudinal plasma proteomics predict phenoconversion to clinically manifest ALS.Nature medicine · 2026Article
- Age-based risk estimates for C9orf72RE-related diseases: Theoretical developments and added value for genetic counseling.PLoS genetics · 2026Article
- Reasons for and against presymptomatic genetic testing in frontotemporal dementia: a qualitative study.Human genetics · 2026Article
- A Qualitive Investigation of Geographic Disparities in Genetic Testing and Care Access for Amyotrophic Lateral Sclerosis: Insights From Patient Journey Mapping.Patient preference and adherence · 2026Article
- Update and recommendations on genetic testing for amyotrophic lateral sclerosis in clinical practice: a Brazilian expert view.Frontiers in neurology · 2026Review
- Disclosure of onset-predictive biomarker results to research participants at risk of genetic frontotemporal dementia: a European perspective.Alzheimer's research & therapy · 2025Review
- Predicting Phenoconversion to Clinically Manifest ALS: Results of a Large-Scale Proteomic Study.medRxiv : the preprint server for health sciences · 2025Article
- Practice Recommendations for Genetic Testing of Ataxias.Annals of clinical and translational neurology · 2025Review
- Proposed Research Criteria for Mild Motor Impairment as a Prodromal Syndrome in Amyotrophic Lateral Sclerosis.Neurology · 2025Article
- Prevalence of SOD1 and C9orf72 Variants Among French ALS Population: The GENIALS Study.European journal of neurology · 2025Article
- Access for ALL in ALS: A large-scale, inclusive, collaborative consortium to unlock the molecular and genetic mechanisms of amyotrophic lateral sclerosis.Muscle & nerve · 2024Review
- Body mass index is lower in asymptomaticAmyotrophic lateral sclerosis & frontotemporal degeneration · 2024Article
- ALS Identified: two-year findings from a sponsored ALS genetic testing program.Annals of clinical and translational neurology · 2024Article
- Evaluation of an educational conference for persons affected by hereditary frontotemporal degeneration and amyotrophic lateral sclerosis.PEC innovation · 2023Article
- Evidence-based consensus guidelines for ALS genetic testing and counseling.Annals of clinical and translational neurology · 2023Article
- Incorporating Genetic Testing Into the Care of Patients With Amyotrophic Lateral Sclerosis/Frontotemporal Degeneration Spectrum Disorders.Neurology. Clinical practice · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
Remarkable advances in our understanding of the genetic contributions to amyotrophic lateral sclerosis (ALS) have sparked discussion and debate about whether clinical genetic testing should routinely be offered to patients with ALS. A related, but distinct, question is whether presymptomatic genetic testing should be offered to family members who may be at risk for developing ALS. Existing guidelines for presymptomatic counseling and testing are mostly based on small number of individuals, clinical judgment, and experience from other neurodegenerative disorders. Over the course of the last 8 years, we have provided testing and 317 genetic counseling sessions (including predecision, pretest, posttest, and ad hoc counseling) to 161 first-degree family members participating in the Pre-Symptomatic Familial ALS Study (Pre-fALS), as well as testing and 75 posttest counseling sessions to 63 individuals with familial ALS. Based on this experience, and the real-world challenges we have had to overcome in the process, we recommend an updated set of guidelines for providing presymptomatic genetic counseling and testing to people at high genetic risk for developing ALS. These recommendations are especially timely and relevant given the growing interest in studying presymptomatic ALS.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.