Trial reportAmerican journal of human genetics1994
Proceed with care: direct predictive testing for Huntington disease.
Trial report in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 24 papers, 1 of them a synthesis 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
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 107 citations in OpenAlex.
- ACMG/ASHG statement. Laboratory guidelines for Huntington disease genetic testing. The American College of Medical Genetics/American Society of Human Genetics Huntington Disease Genetic Testing Working Group.American journal of human genetics · 1998Guideline
- Huntington's Disease Pathogenesis: Two Sequential Components.Journal of Huntington's disease · 2021Review
- Oncology Clinic-Based Hereditary Cancer Genetic Testing in a Population-Based Health Care System.Cancers · 2020Article
- Improving follow up after predictive testing in Huntington's disease: evaluating a genetic counselling narrative group session.Journal of community genetics · 2020Article
- Genetic Counseling in Huntington's Disease: Potential New Challenges on Horizon?Frontiers in neurology · 2019Article
- Therapeutic approaches to Huntington disease: from the bench to the clinic.Nature reviews. Drug discovery · 2018Review
- When access is an issue: exploring barriers to predictive testing for Huntington disease in British Columbia, Canada.European journal of human genetics : EJHG · 2013Article
- Medical ethics for the genome world: a paper from the 2007 William Beaumont hospital symposium on molecular pathology.The Journal of molecular diagnostics : JMD · 2008Review
- Nationwide survey on predictive genetic testing for late-onset, incurable neurological diseases in Japan.Journal of human genetics · 2007Article
- The psychological dimension of informed consent: dissonance processes in genetic testing.Journal of genetic counseling · 2003Article
- The spinocerebellar ataxias: order emerges from chaos.Current neurology and neuroscience reports · 2002Review
- Psychological effect of genetic testing for Huntington's disease: an update of the literature.The Western journal of medicine · 2001Review
- Genetic counselling for schizophrenia in the era of molecular genetics.Canadian journal of psychiatry. Revue canadienne de psychiatrie · 2001Review
- Paradox of a better test for Huntington's disease.Journal of neurology, neurosurgery, and psychiatry · 2000Article
- Psychological impact of genetic testing for Huntington's disease: an update of the literature.Journal of neurology, neurosurgery, and psychiatry · 2000Review
- Evaluation of a counselling protocol for predictive genetic testing for hereditary non-polyposis colorectal cancer.Journal of medical genetics · 2000Article
- Genetic screening with the DNA chip: a new Pandora's box?Journal of medical ethics · 1999Article
- Bioethics for clinicians: 14. Ethics and genetics in medicine.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 1998Review
- Prediction of psychological functioning one year after the predictive test for Huntington's disease and impact of the test result on reproductive decision making.Journal of medical genetics · 1996Article
- Update on genetics of Huntington's disease: availability of direct and accurate predictive test.Italian journal of neurological sciences · 1996Article
Corrections and comments
- Erratum issued
Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The cloning of the Huntington disease (HD) gene allows highly accurate predictive testing using direct analysis of the CAG repeat. This new test provides results with almost complete certainty but poses unique counseling issues related to direct testing for an adult-onset disease. These include testing individuals who are at 25% risk, without the need for blood from a 50% at risk relative; the assessment of symptomatic individuals; the need for ongoing counseling despite simplification of laboratory procedures; and counseling of persons from families who represent a new mutation for HD. This paper describes protocols for direct predictive testing for adult and prenatal assessment, on the basis of the experience of the Canadian Collaborative Study on Predictive Testing (CCSPT). Over the past 8 years, we have provided > 400 results by using linked markers and, more recently, 416 results by using direct assessment of CAG expansion in the HD gene. The vast majority (86%) of requests for direct predictive testing have been from persons who have not previously received results by using linked markers. Despite the ability to now directly assess for the mutation associated with HD, we still recommend assessment of DNA from an affected relative, as this may significantly enhance the accuracy of information to be provided to the at-risk individual. Distance from a genetics center has previously limited the availability of testing, and therefore we have developed approaches to providing predictive testing in the patient's own community.
Indexed as
Identifiers
7942838PMC1918294W1520786604What 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.