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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 RSSAutism Consortium symposium draws record number of researchers, advocates, parents for autism update
The Autism Consortium, an innovative collaboration of researchers, clinicians, funders and families dedicated to catalyzing research and enhancing clinical care for autism spectrum disorders (ASDs), held its fourth annual symposium on October 28th, 2009, at Harvard Medical School in Boston.
Experts unveil new CVD guidelines and position papers
Several new guidelines and position papers offering the most up to date information to ensure that clinicians practice evidence-based medicine were released at the Canadian Cardiovascular Congress 2009 this week.
1 shot of gene therapy and children with congenital blindness can now see
Born with a retinal disease that made him legally blind, and would eventually leave him totally sightless, the nine-year-old boy used to sit in the back of the classroom, relying on the large print on an electronic screen and assisted by teacher aides.
Gene mingling increases sudden death risk
A multi-national research team has discovered that two genetic factors converge to increase the risk of sudden cardiac death.
Dartmouth researchers get personal with genetics
Two recent studies by Dartmouth researchers use individual genetic data to reveal the powers and limits of our current understanding of how the genome influences human health and what genes can reveal about the ancestry of the people of New Hampshire.
Fear of insurance rejection deters potentially life saving genetic tests for bowel cancer
An Australian study of families with genetic risk of bowel cancer has found that 50 percent of participants declined genetic testing when informed of insurance implications.
Race/ethnicity, family income and education associated with sugar consumption
The intake of added sugars in the United States is excessive, estimated by the US Department of Agriculture in 1999-2002 as 17% of calories a day.
Genetic Testing May Be Valuable in Treating Colorectal Cancer
For the 29,000 patients in the United States with metastatic colorectal cancer, chemotherapy with irinotecan is a standard treatment that has been shown to improve survival.
Scientists discover gene mutation responsible for hereditary neuroendocrine tumor
University of Utah researchers and their colleagues have identified the gene that is mutated in a hereditary form of a rare neuroendocrine tumor called paraganglioma (PGL).
Pre-chewed food could transmit HIV
Researchers have uncovered the first cases in which HIV almost certainly was transmitted from mothers or other caregivers to children through pre-chewed food.
More Genetic Testing Current Events and Genetic Testing News Articles
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To Test or Not to Test: A Guide to Genetic Screening and Risk (Thorndike Large Print Health, Home and Learning) by Doris Teichler Zallen (Author) Tests are a standard part of modern medicine. We willingly screen our blood, urine, vision, and hearing, and submit to a host of other exams with names so complicated that we can only refer to them by their initials: PET, ECG, CT, and MRI. Genetic tests of our risks for disease are the latest trend in medicine, touted as an approach to informed and targeted treatment. They offer hope for some, but also raise medical, ethical, and psychological concerns for many including when genetic information is worth having. To Test or Not to Test arms readers with questions that should be considered before they pursue genetic screening, about the information genetic testing can provide, and general logistical questions about risk and timing of testing. Do the benefits of having the... |
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BioPet DNA Breed Identification Kit by BioPet Vet Lab Advances in DNA testing technology mean that it has become possible to identify the ancestry of any dog by performing a simple test using a cheek swab. The DNA required for the test to be run is isolated from cells that are trapped on the DNA ID Card. All cells carry the same genetic material, regardless of type or location in the animal. Taking a cheek swab is therefore the easiest way to obtain the samples needed for testing. |
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Genetic Testing for Hereditary Cancer Risk Now that there are tests that reveal a possible hereditary predisposition to certain cancers, is this testing appropriate for everyone? This talk will address the big questions surrounding genetic testing for hereditary cancer risks. Speaker: James Ford, MD, Assistant Professor of Medicine (Oncology) and of Genetics and by courtesy, of Pediatrics, Stanford University School of Medicine. This product is manufactured on demand using DVD-R recordable media. Amazon.com's standard return policy will apply. |
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DNAffirm Genetic Cancer Scan Testing Kit by Viaguard This is an easy to use at home sample collection kit. You submit swabs of your inside cheeks to the Viaguard lab and receive a confidential report in 25 days. This test encourages understanding risk and empowering prevention via early detection. This test identifies genetic variants linked to the following carcinomas: Breast Cancer,Skin Cancer, Lung Cancer, Colorectal Cancer, Bladder Cancer, Prostate Cancer, and Thyroid Cancer Genotyping technologies have enabled scientists to find variants in the sequence of the human genome linked to a predisposition for a range of carcinomas. The genetic test perfomed in this cancer scan are risk tests, more analogous to biomarker risk tests such as LDL-Cholesterol and PSA, rather than a definitive Mendelian genetic test, like for Huntington's... |
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Genetic Testing: Care, Consent and Liability by Neil F. Sharpe (Author), Ronald F. Carter (Author) A complete review of the issues with specific recommendations and guidelines. With over 1,000 tests commercially available, genetic testing is revolutionizing medicine. Health care professionals diagnosing and treating patients today must consider genetic factors, the risks and limitations of genetic testing, and the relevant law. Genetic Testing: Care, Consent, and Liability offers the only complete, practical treatment of the genetic, clinical, ethical, and legal issue surrounding genetic testing. The authors present protocols, policies, and models of care that are currently in use, and explain the legal framework for genetic testing and counseling that has developed in North America, particularly with regard to the law of medical malpractice. This... |
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Testing For Hereditary Risk of Breast & Ovarian Cancer Also With: Myriad (Primary Contributor) Testing For Hereditary Risk of Breast & Ovarian Cancer: Is It Right For You? An informational program for people considering hereditary cancer testing. 2001. | |
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Google Me Directed By: Jim Killeen |
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Nutrigenomics Educational Starter Packet by Holistic Health Provides background information on the value and usefullness of genetic testing as well as specific recommendations for analyzing and comprehending gene mutations. This Educational Starter Pack includes: - Genetic ByPass book - 2 DVD Set which includes: 1 DVD - Personalized Medicine (GRI Apr 05 Conference) 1 DVD - Implications of Genetic Testing for Alternative Healthcare (ACAM May 05 Conference) The Role of Genetic Testing in Alternative Healthcare (ACAM Nov 05 Conference) |
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Quality of Life and Human Difference: Genetic Testing, Health Care, and Disability (Cambridge Studies in Philosophy and Public Policy) by David Wasserman (Editor), Jerome Bickenbach (Editor), Robert Wachbroit (Editor) The role of quality assessments in social policy, especially health policy, and ethical and social issues raised by prenatal testing for disability are discussed in this analysis. A theme of the literature has been the role played by controversial assumptions about the quality of life of people with disabilities. This book turns the perspectives of disability scholars to issues that have largely been the province of health methodology, policy and philosophy, while re-directing philosophical policy analysis to problems that have largely been the province of disability scholarship. |
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Molecular Genetic Testing In Surgical Pathology by Lippincott Williams & Wilkins Molecular Genetic Testing in Surgical Pathology : Molecular Genetic Testing in Surgical Pathology Pub Date: December 2005 Product Type: Print Author/s: John D Pfeifer MD, PhD Written by experts from Washington University School of Medicine, this text is a thorough review of the specific molecular genetic techniques that can provide diagnostically useful molecular genetic information on tissue samples-including cytogenetics, fluorescence in situ hybridization (FISH), PCR, electrophoresis and hybridization analysis, DNA sequence analysis, and microarrays. The first part of the book describes each technique, indicates its advantages, disadvantages, capabilities, and limitations, and systematically addresses sensitivity and specificity issues. Subsequent chapters,... |
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