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Genetic testing?
September 02, 2008Frequently, autopsy becomes the principal diagnostic tool when macro and microscopic analyses provide a conclusive diagnosis in cardiomyopathies. However, on average one third of autopsies do not identify a pathologically defined cause of death and these deaths are classified as "natural" or arrhythmogenic. In the athlete, the most common causes of sudden cardiac death are of inherited origin. This represents a tremendous burden to families, community and health care.
There has been considerable progress in the understanding of these genetic components thanks to research in familial forms of sudden death. Because these inherited diseases may remain undetected by conventional clinical investigations, genetic testing has been recently added to the clinical tools, improving significantly the detection of those individuals at risk. With that new information the physician, the proband and his family members can make an informed decision regarding their care and in the case of athletes, regarding continuation of competitive training.
While genetic technology has become essential to the diagnosis and subsequent prevention strategies in carriers with borderline or abnormal phenotypes, the use of this technology to guide clinical decisions in asymptomatic genetic carriers with normal phenotype is not without controversy.
These diseases have a low penetrance, indicating that only a small percentage of individuals with the genetic defect will develop the clinical features of the disease. Though to the physician genetic data are compelling evidence of having a risk for the development of the disease, and in several instances they tend to be overly aggressive with therapies. Genetic technology is useful to identify those at risk and those spared, but the clinical decisions have to be based on the clinical parametres and not solely on genetic testing.
European Society of Cardiology
These diseases have a low penetrance, indicating that only a small percentage of individuals with the genetic defect will develop the clinical features of the disease. Though to the physician genetic data are compelling evidence of having a risk for the development of the disease, and in several instances they tend to be overly aggressive with therapies. Genetic technology is useful to identify those at risk and those spared, but the clinical decisions have to be based on the clinical parametres and not solely on genetic testing.
European Society of Cardiology
Genetic Testing Current Events and Genetic Testing News RSSM.I.N.D. Institute researchers call for fragile X testing throughout the lifespan
Writing in this week's Journal of the American Medical Association, UC Davis M.I.N.D. Institute researchers urge physicians to test for mutations of the fragile X gene in patients of all ages.
Bipolar disorder genes, pathways identified by Indiana University neuroscientists
Neuroscientists at the Indiana University School of Medicine have created the first comprehensive map of genes likely to be involved in bipolar disorder.
Washington University scientists first to sequence genome of cancer patient
For the first time, scientists have decoded the complete DNA of a cancer patient and traced her disease - acute myelogenous leukemia - to its genetic roots.
Jefferson Department of Surgery announces new pancreas tumor registry
Charles J. Yeo, M.D., Samuel D. Gross Professor and Chair, Department of Surgery at Jefferson Medical College of Thomas Jefferson University, announces the establishment of the new Jefferson Pancreas Tumor Registry (JPTR).
Clue to genetic cause of fatal birth defect
A novel enzyme may play a major role in anencephaly, offering hope for a genetic test or even therapy for the rare fatal birth defect in which the brain fails to develop, according to a study from researchers at the University of Illinois at Chicago College of Medicine.
Researchers Evaluate Cost-Effectiveness of Genetic Screening to Guide Initial HIV Treatment
A major study from a team of researchers from Weill Cornell Medical College and Massachusetts General Hospital has found that a recent change to HIV-treatment guidelines recommending genetic screening is cost-effective under certain conditions.
New results help predict treatment response in colorectal cancer
Genetic testing can identify a group of patients with advanced colorectal cancer who are likely to survive on average twice as long if treated with the drug cetuximab, late breaking results show.
Risk of breast cancer mutations underestimated for Asian women, Stanford study shows
Oncologist Allison Kurian, MD, and her colleagues at the Stanford University School of Medicine were perplexed. Computer models designed to identify women who might have dangerous genetic mutations that increase their risk of breast and ovarian cancer worked well for white women. But they seemed to be less reliable for another ethnic group.
No need for gene screens in breast cancer families
Research reported today should provide relief to women who are worried after a relative's breast cancer diagnosis. The study in the open access journal BMC Cancer shows that a family history of breast cancer does not give a useful indication of the likelihood that a woman will develop it herself at an early age.
Predicting the risk of a common fungal infection after stem cell transplantation
In silico genetic analysis in mice has led to the discovery of a gene affecting susceptibility to a severe fungal infection in transplant recipients.
More Genetic Testing Current Events and Genetic Testing News Articles
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| Risky Business: Genetic Testing and Exclusionary Practices in the Hazardous Workplace (Cambridge Studies in Philosophy and Public Policy) by Elaine Draper At a time when more corporate employers are using genetic information as a cornerstone of their hiring practices, when workers find their chromosomes considered alongside their resumes, the ramifications of genetic testing demand further examination. Risky Business analyzes health screening in the workplace--three major types of testing are examined: genetic screening in which job applicants... |
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