ArticleAmyotrophic lateral sclerosis & frontotemporal degeneration2019
Lack of consensus in ALS genetic testing practices and divergent views between ALS clinicians and patients.
Article in Amyotrophic lateral sclerosis & frontotemporal degeneration, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
What it found
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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
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 24 citations in OpenAlex.
- Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review.Journal of neurology · 2022Pooled it
- Mainstreaming genetics and genomics: a systematic review of the barriers and facilitators for nurses and physicians in secondary and tertiary care.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Pooled it
- A changed landscape: five-year retrospective on the paradigm shift in genetic testing practices for ALS in Canada.European journal of human genetics : EJHG · 2026Article
- A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare Diseases.Molecular genetics & genomic medicine · 2025Review
- Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members.European journal of human genetics : EJHG · 2025Review
- Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- 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
- Genetic counseling and diagnostic genetic testing for familial amyotrophic lateral sclerosis and/or frontotemporal dementia: A qualitative study of client experiences.Journal of genetic counseling · 2022Article
- The importance of offering early genetic testing in everyone with amyotrophic lateral sclerosis.Brain : a journal of neurology · 2022Article
- Genetic testing in motor neurone disease.Practical neurology · 2022Review
- Views and experiences of palliative care clinicians in addressing genetics with individuals and families: a qualitative study.Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer · 2022Article
- Article
- Amyotrophic Lateral Sclerosis Genetic Access Program: Paving the Way for Genetic Characterization of ALS in the Clinic.Neurology. Genetics · 2021Article
- Review
- Incidence of pathogenic, likely pathogenic, and uncertain ALS variants in a clinic cohort.Neurology. Genetics · 2020Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
Recent advances in ALS gene discovery have both empowered and challenged clinicians providing evaluation and care for persons with ALS, many of whom seek an answer as to the cause of their condition. In order to study clinician practices and attitudes towards genetic testing, we surveyed members of the Northeast ALS Consortium, an international group of specialist ALS clinicians; responses were received from 80 of 255 (response rate = 31.4%). While 92.3% indicated they offered genetic testing to patients with familial ALS, 57.0% offered testing to patients with ALS and a family history of dementia, and 36.9% offered testing to patients with sporadic ALS, revealing a lack of consensus with respect to the approach to the typical ALS patient encountered in clinical practice. In addition, comparison of clinician and patient attitudes towards genetic testing revealed that clinicians valued the scientific potential of testing, but were less likely to say they would have testing themselves, or to see the value in testing for family members. People with ALS were more likely to see value of testing for themselves and for family members, and less likely to strongly value the scientific potential of testing.
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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.