ArticleGenetics in medicine : official journal of the American College of Medical Genetics2011
Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review.Journal of neurology · 2022Pooled it
- Reasons for and against presymptomatic genetic testing in frontotemporal dementia: a qualitative study.Human genetics · 2026Article
- Predictive genetic testing in amyotrophic lateral sclerosis (ALS): Experiences of decision-making and engagement with UK genetic counseling services.Journal of genetic counseling · 2026Article
- Experiences of predictive genetic testing in inherited motor neuron disease: Findings from a qualitative interview study.Journal of genetic counseling · 2025Article
- Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members.European journal of human genetics : EJHG · 2025Review
- Enhancing Clinical Infrastructure for the Delivery of Intrathecal and Genetic Therapies: A Qalsody (Tofersen) Model for Patients WithNeurology. Clinical practice · 2024Article
- Fluctuating salience in those living with genetic risk of motor neuron disease: A qualitative interview study.Health expectations : an international journal of public participation in health care and health policy · 2024Article
- Evidence-based consensus guidelines for ALS genetic testing and counseling.Annals of clinical and translational neurology · 2023Article
- Design of a Randomized, Placebo-Controlled, Phase 3 Trial of Tofersen Initiated in Clinically Presymptomatic SOD1 Variant Carriers: the ATLAS Study.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2022Article
- Preventing amyotrophic lateral sclerosis: insights from pre-symptomatic neurodegenerative diseases.Brain : a journal of neurology · 2022Article
- Predictive testing for neurodegenerative diseases in the age of next-generation sequencing.Journal of genetic counseling · 2020Article
- Predictive Genetic Counseling for Neurodegenerative Diseases: Past, Present, and Future.Cold Spring Harbor perspectives in medicine · 2020Review
- Review
- Review
- The genetics and neuropathology of neurodegenerative disorders: perspectives and implications for research and clinical practice.Acta neuropathologica · 2012Article
- "What does it mean?": uncertainties in understanding results of chromosomal microarray testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2012Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
purposeThe Pre-familial Amyotrophic Lateral Sclerosis (Pre-fALS) study is a longitudinal study of individuals potentially at risk for developing familial amyotrophic lateral sclerosis. Our goals were to (1) explore participants' decisions of whether to learn results of presymptomatic testing or not; (2) understand the psychosocial impact of these decisions; and (3) assess preferences for receiving results by telephone or in person.
methodsThe sample for this substudy comprised 20 participants drawn randomly from autosomal dominant mutant superoxide dismutase 1 families in the Pre-fALS study. Twenty participants completed a semistructured phone interview; prominent themes were identified and rated.
resultsFourteen participants chose to learn results; six had mutant superoxide dismutase 1 and eight had wild-type superoxide dismutase 1. Of the six who initially elected nondisclosure, three were reconsidering their decision. Regardless of the results and method of counseling, participants had adapted well, at least in the short term.
conclusionWe recommend that (1) those considering presymptomatic genetic testing should undergo professional counseling to help decide whether to learn results; (2) discussion should include the option of telephone genetic counseling for those without easy access to in-person counseling; and (3) those who initially decline to learn results should be offered the opportunity to learn their mutation status as their decision evolves.
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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.