ArticleGenetics in medicine : official journal of the American College of Medical Genetics2011
Why is genetic screening for autosomal dominant disorders underused in families? The case of hereditary hemorrhagic telangiectasia.
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 21 papers, 5 of them syntheses that pooled it.
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Who cites it
21 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- A systematic review of knowledge, attitude and practice of pharmacogenomics in pediatric oncology patients.Pharmacology research & perspectives · 2023Pooled it
- Demographic Characteristics Associated With Perceptions of Personal Utility in Genetic and Genomic Testing: A Systematic Review.JAMA network open · 2023Pooled it
- A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease.European journal of human genetics : EJHG · 2022Pooled it
- Personal utility in genomic testing: a systematic literature review.European journal of human genetics : EJHG · 2017Pooled it
- Global trends on fears and concerns of genetic discrimination: a systematic literature review.Journal of human genetics · 2016Pooled it
- Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance ofNeurology. Genetics · 2025Review
- Community-oriented, hospital level genetics: a new approach to improve access for underserved communities.Pediatric research · 2025Article
- Pharmacogenomics in pediatric oncology: Australian adolescent or young adult and caregiver perspectives.Genetics in medicine open · 2025Article
- Mapping the journey of patients and care partners living with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: developing a framework for improvements in care.Neurodegenerative disease management · 2024Article
- Article
- Uptake and predictors of colonoscopy use in family members not participating in cascade genetic testing for Lynch syndrome.Scientific reports · 2020Article
- Delivery Of Cascade Screening For Hereditary Conditions: A Scoping Review Of The Literature.Health affairs (Project Hope) · 2018Article
- Consumer attitudes towards the establishment of a national Australian familial cancer research database by the Inherited Cancer Connect (ICCon) Partnership.Journal of community genetics · 2018Article
- Health screening behaviors among adults with hereditary hemorrhagic telangiectasia in North America.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Life experiences of individuals with hereditary hemorrhagic telangiectasia and disclosing outside the family: a qualitative analysis.Journal of community genetics · 2016Article
- Public awareness of genetic nondiscrimination laws in four states and perceived importance of life insurance protections.Journal of genetic counseling · 2015Article
- Access to personalized medicine: factors influencing the use and value of gene expression profiling in breast cancer treatment.Current oncology (Toronto, Ont.) · 2014Article
- The use of US health insurance data for surveillance of rare disorders: hereditary hemorrhagic telangiectasia.Genetics in medicine : official journal of the American College of Medical Genetics · 2014Article
- Optimal management of hereditary hemorrhagic telangiectasia.Journal of blood medicine · 2014Review
- Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families.Clinical genetics · 2013Article
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
purposeAppropriate management of autosomal dominant disorders reduces morbidity and mortality but relies on identifying which family members are affected. Genetic testing may identify relatives needing follow-up but is underused. We conducted this study to identify barriers to genetic testing for one disorder, hereditary hemorrhagic telangiectasia.
methodsSurveys and online discussion groups with people from hereditary hemorrhagic telangiectasia families.
resultsMultiple barriers to hereditary hemorrhagic telangiectasia genetic testing were identified including lack of knowledge about genetic testing, problems with access, and emotional barriers. Many participants did not understand the rationale for hereditary hemorrhagic telangiectasia testing or benefits of early detection; believed that genetic testing is expensive and not covered by insurance; and believed that primary care providers do not know how to order genetic testing. Access to hereditary hemorrhagic telangiectasia testing is limited by distance from a hereditary hemorrhagic telangiectasia center or a genetics clinic. Emotional barriers include fear of insurance discrimination; denial of having hereditary hemorrhagic telangiectasia or being at risk; and guilt and stigma.
conclusionVoluntary disease organizations should develop and disseminate brief educational materials that describe the rationale for genetic testing and emphasize the benefits of early detection and treatment. In addition, laboratories offering genetic testing should provide support for primary care physicians to order and interpret genetic tests.
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