Journal of clinical and experimental neuropsychology, 2016
Huntington disease (HD) is a neurodegenerative condition with prominent motor (including oculomot... more Huntington disease (HD) is a neurodegenerative condition with prominent motor (including oculomotor), cognitive, and psychiatric effects. While neuropsychological deficits are present in HD, motor impairments may impact performance on neuropsychological measures, especially those requiring a speeded response, as has been demonstrated in multiple sclerosis and schizophrenia. The current study is the first to explore associations between oculomotor functions and neuropsychological performance in HD. Participants with impaired oculomotor functioning performed worse than those with normal oculomotor functioning on cognitive tasks requiring oculomotor involvement, particularly on psychomotor speed tasks, controlling for covariates. Consideration of oculomotor dysfunction on neuropsychological performance is critical, particularly for populations with motor deficits.
ABSTRACT Background Genetic discrimination (defined as the denial of rights, privileges, or oppor... more ABSTRACT Background Genetic discrimination (defined as the denial of rights, privileges, or opportunities, or other adverse treatment based solely on genetic information) is of concern to individuals at risk for developing Huntington disease (HD). Some prior surveys of genetic discrimination have included an examination of the prevalence of worry about genetic discrimination as contrasted to the prevalence of discriminatory experiences. The International RESPOND-HD (I-RESPOND-HD) survey compares and contrasts these two distinct psychological and experiential traits. Methods A total of 433 persons completed the I-RESPOND-HD survey examining the perceptions and experience of genetic discrimination. Participants had previously undergone predictive testing for the genetic mutation that causes HD (PREDICT-HD; n = 310), or had a 50% risk for developing HD due to family history but had chosen not to be tested (PHAROS; n = 123). Respondents lived in the United States (n = 293), Australia (n = 93), or Canada (n = 46). Using qualitative and quantitative assessments, the survey instrument provides a comprehensive set of questions designed to elicit descriptions of the perception of genetic discrimination and how such discrimination might negatively influence respondents (worry). Results Participants self-report a much higher rate of worry about genetic discrimination than actual discriminatory events. Overall, 51.2% of respondents report worrying about the possibility of discrimination within relationships, but only 32.9% actually experienced such discrimination within their personal relationships. Participants similarly reported a higher rate of worry than actual discrimination in the context of insurance (70.0% worried, 25.9% experienced), employment (44.0% worried, 6.5% experienced), and in other transactions (33.3% worried, 4.6% experienced). Conclusion Individuals at risk for HD worry about potential discrimination at a rate higher than that at which they experience such incidents. This exaggerated worry may motivate them to place subtle and/or overt limits on themselves, such as keeping their family history a secret, abstaining from genetic testing, or passing by opportunities to change employers.
European journal of human genetics : EJHG, Jan 4, 2015
The Diagnostic and Statistical Manual for Mental Disorders, Fifth Edition (DSM-5), recommends the... more The Diagnostic and Statistical Manual for Mental Disorders, Fifth Edition (DSM-5), recommends the World Health Organization Disability Assessment Schedule (WHODAS) 2.0 for routine clinical use. We tested the utility of the 12-item WHODAS 2.0 in prodromal Huntington disease. Using data from 726 participants and 630 companions over a 3-year follow-up, linear mixed models were fitted to test (1) baseline and longitudinal differences by progression group; (2) participant and companion differences within each group; and (3) sensitivity of the 12-item WHODAS in comparison to the 36-item WHODAS and the Total Functional Capacity (TFC) score from the Unified Huntington's Disease Rating Scale. Participants showed baseline group differences whereas companions showed baseline and longitudinal group differences. Companions reported worse functional decline over time than participants as the disease progresses. The 12-item WHODAS detected longitudinal change better than the 36-item WHODAS and...
Journal of Neurology, Neurosurgery & Psychiatry, 2014
Aims This retrospective study aims to ascertain HD causes and places of death in a European Hunti... more Aims This retrospective study aims to ascertain HD causes and places of death in a European Huntington's disease cohortthe REGISTRY. Methods REGISTRY, the European HD Network's prospective observational study, was used for data collection from 2001 to 2013. Our study population consisted of manifest HD patients having attended more than one study visit. For deceased subjects data was extracted from the death report form and incorporated information such as cause and place of death. Statistical analysis included descriptive statistics and survival analysis through Kaplan Meier estimates of median survival time using SPSS and R software. Results A total of 5164 participants were analysed (50.9% women and 98.1% Caucasians). At the end of the study period there were 533 deaths (10.3% of cases). For deceased subjects, the median age of diagnosis was 49 years (9-85) and the median age of death was 58 years (16-93). The most frequent cause of death was pneumonia (25.6%) followed by: other infections (9.1%), suicide (8.6%), cancer (4.4%), stroke (3.4%), and trauma (1.2%). The cause of death was undetermined in 47.7% of deaths. The most frequent place of death was the hospital (29.8%) followed by: home (23.9%), nursing houses (19.8%), and hospice care facilities (3.3%). The place of death was undetermined in 23.1% of deaths. The median survival time as time from diagnosis to death was 24 years (95% CI: 20.8-27.2); and as time from symptom onset to death was 35 years (95% CI: 29.2-40.8). Conclusion In the REGISTRY cohort HD patients succumb to the same conditions shown in former HD and other neurodegenerative diseases studies. Still, our results show HD has its own natural history, being the age of death and the survival after the diagnosis unique among neurodegeneration.
Background Although the association between cytosine-adenine-guanine (CAG) repeat length and age ... more Background Although the association between cytosine-adenine-guanine (CAG) repeat length and age at onset of Huntington's disease is well known, improved prediction of onset would be advantageous for clinical trial design and prognostic counselling. We compared various measures for tracking progression and predicting conversion to manifest Huntington's disease. Methods In this prospective observational study, we assessed the ability of 40 measures in fi ve domains (motor, cognitive, psychiatric, functional, and imaging) to predict time to motor diagnosis of Huntington's disease, accounting for CAG repeat length, age, and the interaction of CAG repeat length and age. Eligible participants were individuals from the PREDICT-HD study (from 33 centres in six countries [USA, Canada, Germany, Australia, Spain, UK]) with the gene mutation for Huntington's disease but without a motor diagnosis (a rating below 4 on the diagnostic confi dence level from the 15-item motor assessment of the Unifi ed Huntington's Disease Rating Scale). Participants were followed up between September, 2002, and July, 2014. We used joint modelling of longitudinal and survival data to examine the extent to which baseline and change of measures analysed separately was predictive of CAG-adjusted age at motor diagnosis. Findings 1078 individuals with a CAG expansion were included in this analysis. Participants were followed up for a mean of 5•1 years (SD 3•3, range 0•0-12•0). 225 (21%) of these participants received a motor diagnosis of Huntington's disease during the study. 37 of 40 cross-sectional and longitudinal clinical and imaging measures were signifi cant predictors of motor diagnosis beyond CAG repeat length and age. The strongest predictors were in the motor, imaging, and cognitive domains: an increase of one SD in total motor score (motor domain) increased the risk of a motor diagnosis by 3•07 times (95% CI 2•26-4•16), a reduction of one SD in putamen volume (imaging domain) increased risk by 3•32 times (2•37-4•65), and a reduction of one SD in Stroop word score (cognitive domain) increased risk by 2•32 times (1•88-2•87). Interpretation Prediction of diagnosis of Huntington's disease can be improved beyond that obtained by CAG repeat length and age alone. Such knowledge about potential predictors of manifest Huntington's disease should inform discussions about guidelines for diagnosis, prognosis, and counselling, and might be useful in guiding the selection of participants and outcome measures for clinical trials.
The past decade has witnessed an explosion of evidence suggesting that many neurodegenerative dis... more The past decade has witnessed an explosion of evidence suggesting that many neurodegenerative diseases can be detected years, if not decades, earlier than previously thought. To date, these scientific advances have not provoked any parallel translational or clinical improvements. There is an urgency to capitalize on this momentum so earlier detection of disease can be more readily translated into improved health-related quality of life for families at risk for, or suffering with, neurodegenerative diseases. In this review, we discuss health-related quality of life (HRQOL) measurement in neurodegenerative diseases and the importance of these "patient reported outcomes" for all clinical research. Next, we address HRQOL following early identification or predictive genetic testing in some neurodegenerative diseases: Huntington disease, Alzheimer's disease, Parkinson's disease, Dementia with Lewy bodies, frontotemporal dementia, amyotrophic
, 3 and the I-RESPOND-HD Investigators of the Huntington Study Group Aims: A family history of Hu... more , 3 and the I-RESPOND-HD Investigators of the Huntington Study Group Aims: A family history of Huntington disease (HD) or receiving results of HD predictive genetic testing can influence individual well-being, family relationships, and social interactions in positive and negative ways. The aim of this study was to examine benefits reported by people with an HD family history or those who have undergone predictive HD testing, as well as the personal variables associated with perceived benefits. Methods: Seventy-four of 433 people completing the International Response of a Sample Population to HD risk (I-RESPOND-HD) survey reported benefits. Knowledge and understanding was perceived as the most common benefit from participants in both groups. The next most frequent perceived benefits from a family history were connecting with others and achieving life meaning and insights. The next most common perceived benefits from genetic testing were life planning and social support. The least common perceived benefit for both groups was renewed hope and optimism. Older age and spirituality were significantly associated with benefits in both groups. Conclusions: Perceptions of benefit may not be as likely until later years in people with prodromal HD. A developed sense of spirituality is identified as a personal resource associated with the perception of benefit from genetic testing for HD. Associations among spirituality, perceived benefits, and other indicators of personal and family well-being may be useful in genetic counseling and health care of people with prodromal HD.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2008
Potential discrimination from genetic testing may undermine technological advances for health car... more Potential discrimination from genetic testing may undermine technological advances for health care. Researching long‐term consequences of testing for genetic conditions that may lead to discrimination is a public health priority. The consequences of genetic discrimination generate social, health, and economic burdens for society by diminishing opportunities for at‐risk individuals in a range of contexts. The current study objective was to investigate perceptions of genetic stigmatization and discrimination among persons who completed predictive testing for Huntington's disease (HD). Using semi‐structured interviews and computerized qualitative analysis, the perceptions of 15 presymptomatic persons with a positive gene test predicting HD were examined with regard to differential treatment following testing. The sample comprised 11 women and 4 men, mostly married (73%), aged between 22 and 62 years, with an average education of 14.6 years (SD ± 2.57) and residing in urban, rural a...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2010
Genetic discrimination may be experienced in the day‐to‐day lives of people at risk for Huntingto... more Genetic discrimination may be experienced in the day‐to‐day lives of people at risk for Huntington disease (HD), encompassing occurrences in the workplace, when seeking insurance, within social relationships, and during other daily encounters. At‐risk individuals who have tested either positive or negative for the genetic expansion that causes HD, as well as at‐risk persons with a 50% chance for developing the disorder but have not had DNA testing completed the International RESPOND‐HD (I‐RESPOND‐HD) survey. One of the study's purposes was to examine perceptions of genetic stigmatization and discrimination. A total of 412 out of 433 participants provided narrative comments, and 191 provided related codable narrative data. The core theme, Information Control, refers to organizational policies and interpersonal actions. This theme was found in narrative comments describing genetic discrimination perceptions across employment, insurance, social, and other situations. These reports ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2010
Genetic discrimination—defined as the denial of rights, privileges, or opportunities or other adv... more Genetic discrimination—defined as the denial of rights, privileges, or opportunities or other adverse treatment based solely on genetic information (including family history)—is an important concern to patients, healthcare professionals, lawmakers, and family members at risk for carrying a deleterious gene. Data from the United States, Canada, and Australia were collected from 433 individuals at risk for Huntington disease (HD) who have tested either positive or negative for the gene that causes HD and family members of affected individuals who have a 50% risk for developing the disorder but remain untested. Across all three countries, a total of 46.2% of respondents report genetic discrimination or stigma based on either their family history of HD or genetic testing for the HD gene mutation. We report on the overall incidence of discrimination and stigma in the domains of insurance (25.9%), employment (6.5%), relationships (32.9%), and other transactions (4.6%) in the United States...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2010
Genetic discrimination—defined as the denial of rights, privileges, or opportunities or other adv... more Genetic discrimination—defined as the denial of rights, privileges, or opportunities or other adverse treatment based solely on genetic information (including family history)—is an important concern to patients, healthcare professionals, lawmakers, and family members at risk for carrying a deleterious gene. Data from the United States, Canada, and Australia were collected from 433 individuals at risk for Huntington disease (HD) who have tested either positive or negative for the gene that causes HD and family members of affected individuals who have a 50% risk for developing the disorder but remain untested. Across all three countries, a total of 46.2% of respondents report genetic discrimination or stigma based on either their family history of HD or genetic testing for the HD gene mutation. We report on the overall incidence of discrimination and stigma in the domains of insurance (25.9%), employment (6.5%), relationships (32.9%), and other transactions (4.6%) in the United States...
Journal of clinical and experimental neuropsychology, 2016
Huntington disease (HD) is a neurodegenerative condition with prominent motor (including oculomot... more Huntington disease (HD) is a neurodegenerative condition with prominent motor (including oculomotor), cognitive, and psychiatric effects. While neuropsychological deficits are present in HD, motor impairments may impact performance on neuropsychological measures, especially those requiring a speeded response, as has been demonstrated in multiple sclerosis and schizophrenia. The current study is the first to explore associations between oculomotor functions and neuropsychological performance in HD. Participants with impaired oculomotor functioning performed worse than those with normal oculomotor functioning on cognitive tasks requiring oculomotor involvement, particularly on psychomotor speed tasks, controlling for covariates. Consideration of oculomotor dysfunction on neuropsychological performance is critical, particularly for populations with motor deficits.
ABSTRACT Background Genetic discrimination (defined as the denial of rights, privileges, or oppor... more ABSTRACT Background Genetic discrimination (defined as the denial of rights, privileges, or opportunities, or other adverse treatment based solely on genetic information) is of concern to individuals at risk for developing Huntington disease (HD). Some prior surveys of genetic discrimination have included an examination of the prevalence of worry about genetic discrimination as contrasted to the prevalence of discriminatory experiences. The International RESPOND-HD (I-RESPOND-HD) survey compares and contrasts these two distinct psychological and experiential traits. Methods A total of 433 persons completed the I-RESPOND-HD survey examining the perceptions and experience of genetic discrimination. Participants had previously undergone predictive testing for the genetic mutation that causes HD (PREDICT-HD; n = 310), or had a 50% risk for developing HD due to family history but had chosen not to be tested (PHAROS; n = 123). Respondents lived in the United States (n = 293), Australia (n = 93), or Canada (n = 46). Using qualitative and quantitative assessments, the survey instrument provides a comprehensive set of questions designed to elicit descriptions of the perception of genetic discrimination and how such discrimination might negatively influence respondents (worry). Results Participants self-report a much higher rate of worry about genetic discrimination than actual discriminatory events. Overall, 51.2% of respondents report worrying about the possibility of discrimination within relationships, but only 32.9% actually experienced such discrimination within their personal relationships. Participants similarly reported a higher rate of worry than actual discrimination in the context of insurance (70.0% worried, 25.9% experienced), employment (44.0% worried, 6.5% experienced), and in other transactions (33.3% worried, 4.6% experienced). Conclusion Individuals at risk for HD worry about potential discrimination at a rate higher than that at which they experience such incidents. This exaggerated worry may motivate them to place subtle and/or overt limits on themselves, such as keeping their family history a secret, abstaining from genetic testing, or passing by opportunities to change employers.
European journal of human genetics : EJHG, Jan 4, 2015
The Diagnostic and Statistical Manual for Mental Disorders, Fifth Edition (DSM-5), recommends the... more The Diagnostic and Statistical Manual for Mental Disorders, Fifth Edition (DSM-5), recommends the World Health Organization Disability Assessment Schedule (WHODAS) 2.0 for routine clinical use. We tested the utility of the 12-item WHODAS 2.0 in prodromal Huntington disease. Using data from 726 participants and 630 companions over a 3-year follow-up, linear mixed models were fitted to test (1) baseline and longitudinal differences by progression group; (2) participant and companion differences within each group; and (3) sensitivity of the 12-item WHODAS in comparison to the 36-item WHODAS and the Total Functional Capacity (TFC) score from the Unified Huntington's Disease Rating Scale. Participants showed baseline group differences whereas companions showed baseline and longitudinal group differences. Companions reported worse functional decline over time than participants as the disease progresses. The 12-item WHODAS detected longitudinal change better than the 36-item WHODAS and...
Journal of Neurology, Neurosurgery & Psychiatry, 2014
Aims This retrospective study aims to ascertain HD causes and places of death in a European Hunti... more Aims This retrospective study aims to ascertain HD causes and places of death in a European Huntington's disease cohortthe REGISTRY. Methods REGISTRY, the European HD Network's prospective observational study, was used for data collection from 2001 to 2013. Our study population consisted of manifest HD patients having attended more than one study visit. For deceased subjects data was extracted from the death report form and incorporated information such as cause and place of death. Statistical analysis included descriptive statistics and survival analysis through Kaplan Meier estimates of median survival time using SPSS and R software. Results A total of 5164 participants were analysed (50.9% women and 98.1% Caucasians). At the end of the study period there were 533 deaths (10.3% of cases). For deceased subjects, the median age of diagnosis was 49 years (9-85) and the median age of death was 58 years (16-93). The most frequent cause of death was pneumonia (25.6%) followed by: other infections (9.1%), suicide (8.6%), cancer (4.4%), stroke (3.4%), and trauma (1.2%). The cause of death was undetermined in 47.7% of deaths. The most frequent place of death was the hospital (29.8%) followed by: home (23.9%), nursing houses (19.8%), and hospice care facilities (3.3%). The place of death was undetermined in 23.1% of deaths. The median survival time as time from diagnosis to death was 24 years (95% CI: 20.8-27.2); and as time from symptom onset to death was 35 years (95% CI: 29.2-40.8). Conclusion In the REGISTRY cohort HD patients succumb to the same conditions shown in former HD and other neurodegenerative diseases studies. Still, our results show HD has its own natural history, being the age of death and the survival after the diagnosis unique among neurodegeneration.
Background Although the association between cytosine-adenine-guanine (CAG) repeat length and age ... more Background Although the association between cytosine-adenine-guanine (CAG) repeat length and age at onset of Huntington's disease is well known, improved prediction of onset would be advantageous for clinical trial design and prognostic counselling. We compared various measures for tracking progression and predicting conversion to manifest Huntington's disease. Methods In this prospective observational study, we assessed the ability of 40 measures in fi ve domains (motor, cognitive, psychiatric, functional, and imaging) to predict time to motor diagnosis of Huntington's disease, accounting for CAG repeat length, age, and the interaction of CAG repeat length and age. Eligible participants were individuals from the PREDICT-HD study (from 33 centres in six countries [USA, Canada, Germany, Australia, Spain, UK]) with the gene mutation for Huntington's disease but without a motor diagnosis (a rating below 4 on the diagnostic confi dence level from the 15-item motor assessment of the Unifi ed Huntington's Disease Rating Scale). Participants were followed up between September, 2002, and July, 2014. We used joint modelling of longitudinal and survival data to examine the extent to which baseline and change of measures analysed separately was predictive of CAG-adjusted age at motor diagnosis. Findings 1078 individuals with a CAG expansion were included in this analysis. Participants were followed up for a mean of 5•1 years (SD 3•3, range 0•0-12•0). 225 (21%) of these participants received a motor diagnosis of Huntington's disease during the study. 37 of 40 cross-sectional and longitudinal clinical and imaging measures were signifi cant predictors of motor diagnosis beyond CAG repeat length and age. The strongest predictors were in the motor, imaging, and cognitive domains: an increase of one SD in total motor score (motor domain) increased the risk of a motor diagnosis by 3•07 times (95% CI 2•26-4•16), a reduction of one SD in putamen volume (imaging domain) increased risk by 3•32 times (2•37-4•65), and a reduction of one SD in Stroop word score (cognitive domain) increased risk by 2•32 times (1•88-2•87). Interpretation Prediction of diagnosis of Huntington's disease can be improved beyond that obtained by CAG repeat length and age alone. Such knowledge about potential predictors of manifest Huntington's disease should inform discussions about guidelines for diagnosis, prognosis, and counselling, and might be useful in guiding the selection of participants and outcome measures for clinical trials.
The past decade has witnessed an explosion of evidence suggesting that many neurodegenerative dis... more The past decade has witnessed an explosion of evidence suggesting that many neurodegenerative diseases can be detected years, if not decades, earlier than previously thought. To date, these scientific advances have not provoked any parallel translational or clinical improvements. There is an urgency to capitalize on this momentum so earlier detection of disease can be more readily translated into improved health-related quality of life for families at risk for, or suffering with, neurodegenerative diseases. In this review, we discuss health-related quality of life (HRQOL) measurement in neurodegenerative diseases and the importance of these "patient reported outcomes" for all clinical research. Next, we address HRQOL following early identification or predictive genetic testing in some neurodegenerative diseases: Huntington disease, Alzheimer's disease, Parkinson's disease, Dementia with Lewy bodies, frontotemporal dementia, amyotrophic
, 3 and the I-RESPOND-HD Investigators of the Huntington Study Group Aims: A family history of Hu... more , 3 and the I-RESPOND-HD Investigators of the Huntington Study Group Aims: A family history of Huntington disease (HD) or receiving results of HD predictive genetic testing can influence individual well-being, family relationships, and social interactions in positive and negative ways. The aim of this study was to examine benefits reported by people with an HD family history or those who have undergone predictive HD testing, as well as the personal variables associated with perceived benefits. Methods: Seventy-four of 433 people completing the International Response of a Sample Population to HD risk (I-RESPOND-HD) survey reported benefits. Knowledge and understanding was perceived as the most common benefit from participants in both groups. The next most frequent perceived benefits from a family history were connecting with others and achieving life meaning and insights. The next most common perceived benefits from genetic testing were life planning and social support. The least common perceived benefit for both groups was renewed hope and optimism. Older age and spirituality were significantly associated with benefits in both groups. Conclusions: Perceptions of benefit may not be as likely until later years in people with prodromal HD. A developed sense of spirituality is identified as a personal resource associated with the perception of benefit from genetic testing for HD. Associations among spirituality, perceived benefits, and other indicators of personal and family well-being may be useful in genetic counseling and health care of people with prodromal HD.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2008
Potential discrimination from genetic testing may undermine technological advances for health car... more Potential discrimination from genetic testing may undermine technological advances for health care. Researching long‐term consequences of testing for genetic conditions that may lead to discrimination is a public health priority. The consequences of genetic discrimination generate social, health, and economic burdens for society by diminishing opportunities for at‐risk individuals in a range of contexts. The current study objective was to investigate perceptions of genetic stigmatization and discrimination among persons who completed predictive testing for Huntington's disease (HD). Using semi‐structured interviews and computerized qualitative analysis, the perceptions of 15 presymptomatic persons with a positive gene test predicting HD were examined with regard to differential treatment following testing. The sample comprised 11 women and 4 men, mostly married (73%), aged between 22 and 62 years, with an average education of 14.6 years (SD ± 2.57) and residing in urban, rural a...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2010
Genetic discrimination may be experienced in the day‐to‐day lives of people at risk for Huntingto... more Genetic discrimination may be experienced in the day‐to‐day lives of people at risk for Huntington disease (HD), encompassing occurrences in the workplace, when seeking insurance, within social relationships, and during other daily encounters. At‐risk individuals who have tested either positive or negative for the genetic expansion that causes HD, as well as at‐risk persons with a 50% chance for developing the disorder but have not had DNA testing completed the International RESPOND‐HD (I‐RESPOND‐HD) survey. One of the study's purposes was to examine perceptions of genetic stigmatization and discrimination. A total of 412 out of 433 participants provided narrative comments, and 191 provided related codable narrative data. The core theme, Information Control, refers to organizational policies and interpersonal actions. This theme was found in narrative comments describing genetic discrimination perceptions across employment, insurance, social, and other situations. These reports ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2010
Genetic discrimination—defined as the denial of rights, privileges, or opportunities or other adv... more Genetic discrimination—defined as the denial of rights, privileges, or opportunities or other adverse treatment based solely on genetic information (including family history)—is an important concern to patients, healthcare professionals, lawmakers, and family members at risk for carrying a deleterious gene. Data from the United States, Canada, and Australia were collected from 433 individuals at risk for Huntington disease (HD) who have tested either positive or negative for the gene that causes HD and family members of affected individuals who have a 50% risk for developing the disorder but remain untested. Across all three countries, a total of 46.2% of respondents report genetic discrimination or stigma based on either their family history of HD or genetic testing for the HD gene mutation. We report on the overall incidence of discrimination and stigma in the domains of insurance (25.9%), employment (6.5%), relationships (32.9%), and other transactions (4.6%) in the United States...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2010
Genetic discrimination—defined as the denial of rights, privileges, or opportunities or other adv... more Genetic discrimination—defined as the denial of rights, privileges, or opportunities or other adverse treatment based solely on genetic information (including family history)—is an important concern to patients, healthcare professionals, lawmakers, and family members at risk for carrying a deleterious gene. Data from the United States, Canada, and Australia were collected from 433 individuals at risk for Huntington disease (HD) who have tested either positive or negative for the gene that causes HD and family members of affected individuals who have a 50% risk for developing the disorder but remain untested. Across all three countries, a total of 46.2% of respondents report genetic discrimination or stigma based on either their family history of HD or genetic testing for the HD gene mutation. We report on the overall incidence of discrimination and stigma in the domains of insurance (25.9%), employment (6.5%), relationships (32.9%), and other transactions (4.6%) in the United States...
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Papers by Cheryl Erwin