ArticleEuropean journal of human genetics : EJHG2009
Problems assessing uptake of Huntington disease predictive testing and a proposed solution.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.
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Who cites it
22 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Variation in the reported prevalence of Huntington's disease: a systematic review and guide to interpretation.Journal of neurology · 2025Pooled it
- Prenatal Testing for Adult-Onset Conditions: the Position of the National Society of Genetic Counselors.Journal of genetic counseling · 2016Guideline
- An examination of criminal offenders with dementia in Australian courts.Psychiatry, psychology, and law : an interdisciplinary journal of the Australian and New Zealand Association of Psychiatry, Psychology and Law · 2025Article
- How Many People Have a Huntington's Disease Expansion: A Population-Based Prevalence Study in Northern Scotland.Neuroepidemiology · 2025Article
- Novel drug candidates targeting Alzheimer's disease: ethical challenges with identifying the relevant patient population.Journal of medical ethics · 2021Article
- Analysis of Nationwide Data to Determine the Incidence and Diagnosed Prevalence of Autosomal Dominant Polycystic Kidney Disease in the USA: 2013-2015.Kidney diseases (Basel, Switzerland) · 2019Article
- Ethics in genetic counselling.Journal of community genetics · 2019Review
- Presymptomatic testing of those at 25% risk of autosomal dominant neurodegenerative disease- testing team beware.European journal of human genetics : EJHG · 2019Article
- Ethical issues in neurogenetics.Handbook of clinical neurology · 2018Review
- Prevalence of autosomal dominant polycystic kidney disease in the European Union.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2017Article
- Prenatal testing in Huntington disease: after the test, choices recommence.European journal of human genetics : EJHG · 2016Article
- 22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium.European journal of human genetics : EJHG · 2016Article
- CAG repeat size in Huntingtin alleles is associated with cancer prognosis.European journal of human genetics : EJHG · 2016Article
- The Spectrum of Caregiving in Palliative Care for Serious, Advanced, Rare Diseases: Key Issues and Research Directions.Journal of palliative medicine · 2016Article
- Incidental findings of uncertain significance: To know or not to know--that is not the question.BMC medical ethics · 2016Article
- Everyday cognition in prodromal Huntington disease.Neuropsychology · 2015Article
- The "right not to know" in the genomic era: time to break from tradition?The American journal of bioethics : AJOB · 2014Article
- A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases.Progress in neurobiology · 2013Review
- Characterization of depression in prodromal Huntington disease in the neurobiological predictors of HD (PREDICT-HD) study.Journal of psychiatric research · 2013Article
- How do partners find out about the risk of Huntington's disease in couple relationships?Journal of genetic counseling · 2013Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The uptake of predictive testing for Huntington disease informs our understanding of decision making by those at risk and assists with planning for service provision. Uptake figures have been reported from several centers based on the total number of people who have undertaken predictive testing as a percentage of those estimated to be at 50% risk in the region. This method produced a figure of 35% from our own service, much higher than observation of the local pedigrees indicated, and higher than other published reports. We have identified some errors in the commonly used formula. The major errors are the use of the cumulative total of those who have had testing with a static denominator of those at 50% risk, and the failure to exclude from the at-risk group those who are too young and therefore ineligible to test.We report data from the Huntington Disease Register of Victoria and estimate the prevalence to be 8 per 100,000 in 1999. Additional data on individuals at risk were collated. We found that for every diagnosed person there were 4.2 individuals at 50% risk, a lower ratio than one to five hypothesized in the literature. We examined these ratios in the context of uptake.Significantly, we provide a solution to the calculation of uptake with a formula that factors in a dynamic denominator and corrects for the number of years testing has been offered. Using this formula, we calculated an uptake of 13.0-15.4% for the state of Victoria, Australia. This formula can be used to compare uptake across different centers.
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