Articles tagged with Genetic Testing
A one-year study found that specialists in dysmorphology are recognized by their peers for knowledge and authority, despite the increasing use of genetic testing. Laboratory tests do not replace clinical expertise, but rather complement it with techniques such as photographs and family trees.
Researchers used a custom-built small animal imaging system to demonstrate gene expression in mice with cystic fibrosis. The results show promise for novel gene delivery methods and potential treatments for the debilitating disease.
The UT Southwestern Medical Center team developed a blood test that can detect amplification of the HER-2 gene in circulating cells associated with breast cancer. This detection could enable personalized treatment decisions for patients with HER-2 amplified tumors.
A study found that 18% of early-onset Parkinson's disease patients have a single parkin gene mutation, raising questions about the clinical implications of this finding. The study's results challenge the long-held assumption that two mutations are required to develop Parkinson's disease.
Researchers identified the NIPBL gene on chromosome 5 as the cause of Cornelia de Lange syndrome, a condition characterized by mental retardation, impaired growth, and heart defects. The discovery may lead to genetic tests for confirmation and comfort for families affected by the disease.
Researchers identified a 23-gene signature that can predict disease recurrence in Dukes' B colon cancer patients with high accuracy. The study's findings have significant implications for personalized therapy decisions and could lead to improved patient outcomes.
Research suggests that women with BRCA1 or BRCA2 mutations are more likely to choose double mastectomy, with 48% of those who tested positive opting for the surgery compared to 24% without a mutation. Genetic counseling and testing can help patients make informed decisions about their treatment.
A study found that breast cancer patients with BRCA 1/2 mutations are twice as likely to opt for a double mastectomy after receiving genetic counseling and testing. Genetic counseling and testing have been shown to significantly impact treatment decisions among high-risk patients.
Researchers have discovered a new hereditary cancer mutation associated with an increased risk of colon, endometrial and ovarian cancers. The mutation was found in descendants of a German immigrant who arrived in the US in 1727.
The authors argue that genetic testing poses no new ethical issues compared to existing practices, but the inconsistency in disclosure of results is unjustifiable. Genetic tests may soon be linked to lifestyle and future health, making them inappropriate for premium assessment if not disclosed equally.
Researchers developed a genetic test to distinguish African elephant tusks from different parts of Africa, with 80-95% accuracy. This test can help law enforcers pinpoint where poaching is heaviest, increasing ivory seizure rates and deterring poachers.
Nutritional genomics research aims to create personalized diets based on genetic make-up, but raises concerns about ethics, accessibility and regulation. The study suggests that a detailed examination of its moral implications is needed before widespread market introduction.
Lab Tests Online offers a comprehensive resource for patients seeking information on lab tests, including explanations of test results and personalized responses from clinical laboratory scientists. The site also integrates with other reputable sources like NIH's Medline Plus.
Researchers found that prenatal HLA typing can identify compatible donors, enabling early treatment for affected fetuses. The technique has the potential to save thousands of lives by treating a common blood disorder with bone marrow transplantation.
A new study has identified a special type of idiopathic hypereosinophilic syndrome (HES) that can be diagnosed with a tryptase blood test and treated successfully with imatinib. The disease, characterized by an overabundance of white blood cells called eosinophils, can cause severe organ damage and is often fatal.
Researchers at NIST are developing tiny lab-on-chip devices to automate material formulation testing, reducing trial-and-error exercises. The project aims to improve paints, shampoos, and other emulsions with real-time image measurement techniques, extending microfluidic system capabilities.
A study by the University of Texas M. D. Anderson Cancer Center reveals a strong correlation between the loss of AP-2( transcription factor and the progression of different human gliomas. The findings suggest that this gene acts as a tumor suppressor, controlling various genes involved in cell proliferation and invasion.
A new study identifies a genetic marker in blood samples that may indicate an increased risk of colon cancer. The researchers found that individuals with a family history of colon cancer, polyps, or personal history of the disease were more likely to have this marker in their blood.
A recent study by Penn researchers refutes prior research findings on the mental health impact of genetic testing for breast cancer. The study found that genetic testing is a tool for establishing truth and examining health strategies, rather than a source of anxiety.
A recent study by W. Allen Hogge, M.D., found that nearly 56% of miscarriages are caused by chromosomal abnormalities, with higher rates among women over 35. The study recommends regular karyotyping tests after the second loss and more advanced testing only when no genetic abnormality is found.
Pittsburgh researchers identify a genetic change in the UMOD gene responsible for two juvenile onset renal diseases, FJHN and MCKD2. The discovery enables testing of clinically unaffected family members, allowing for early intervention and potential prevention of kidney disease progression.
A new genetic test can identify patients with diabetes at high risk for heart disease, potentially saving lives through early intervention. Researchers analyzed the haptoglobin gene in a population-based study and found that individuals with one form of the gene were five times more likely to develop heart disease.
Researchers from Brazil have developed a genetic technique that can accurately sex ostrich chicks as young as five days old using feather samples. The new method involves polymerase chain reaction (PCR) and has been shown to agree with traditional surgical methods, opening up new possibilities for commercial ostrich breeders.
The study provides strongest support for mutation accumulation (MA) theory, proposing that aging results from accumulated mutations of genes kept in check early in life. This theory suggests that genes associated with diseases like Huntington's and cancer have noticeable effects late in life.
A meta-analysis of 31 studies found the California Verbal Learning Test to be the most accurate predictor of Alzheimer's type dementia. Researchers also discovered that odor identification tests can identify preclinical Alzheimer's in individuals with the ApoE gene more effectively than neuroimaging measures.
Researchers created a DNA fin test that accurately identifies six shark species commonly caught in North Atlantic waters. The test uses polymerase chain reaction and has implications for shark fisheries and trade monitoring, facilitating better recordkeeping and conservation efforts.
A new virtual clinic, developed by Dartmouth Medical School, aims to improve understanding of genetic testing and services among non-geneticists. The program uses interactive multimedia and expert simulations to train healthcare providers on genetics in clinical practice, working with labs and genetic counselors.
A study found that consuming more calories and fats may be linked to a higher risk of developing Alzheimer's disease. The research, published in the Archives of Neurology, followed 980 elderly individuals for an average of four years and recorded their calorie intake.
Researchers have developed a new genetic shark-identification test that is quick, accurate and relatively cheap. The test has been evaluated on 33 closely-related known species and found to be nearly 100% accurate, with an average accuracy of over 99%, according to Shivji and his colleagues.
A Cardiff-based team investigates the impact of genetic testing on insurance costs and behavior in the UK. They gather data on families affected by inherited diseases to determine the potential for adverse selection and its effect on insurance claims and premiums.
Two studies found high discordance between local laboratory tests and central testing facilities, raising concerns about patient eligibility for trastuzumab trials. These discrepancies could lead to unnecessary costs and cardiotoxicity. Trials have since modified their criteria to require central laboratory testing to confirm HER2 status.
Mayo Clinic researchers have found a renewed use for a test to identify patients at risk of long QT syndrome, a genetic condition that can cause sudden death. The study used epinephrine infusion and electrocardiogram monitoring to detect a specific response in people with long QT syndrome 1, a subtype of the condition.
Researchers identified a novel gene alteration that contributes to colon cancer growth, suggesting a new target for diagnosis and treatment. The discovery also hints at the possibility of reversing methylation-based tumor progression, potentially leading to a non-invasive diagnostic test.
A genetic test for a cell-proliferation enzyme variant may predict poorer outcomes in children with acute lymphoblastic leukaemia, prompting individualized treatment approaches. The study found that children homozygous for the triple repeat were four times more likely to have a poor outcome.
Researchers found that women who received predictive genetic testing for hereditary breast and ovarian cancer took practical measures, such as regular medical exams, rather than experiencing significant distress. About 10% opted for prophylactic mastectomy, while 37% had already undergone oophorectomy before testing.
Researchers have identified key genes associated with cardiac hypertrophy, hypertension, and dilated cardiomyopathy. Genetic testing is also being developed to predict susceptibility to coronary artery disease, offering new avenues for preventive medicine.
A multicentric study has identified an excess of allele1 for the GABRA3 gene in patients with bipolar disorder. This finding suggests a potential link between genetic variations and the development of manic-depressive illness.
A new test has detected colon cancer gene mutations in about 60% of early-stage colorectal cancer patients, with no false positive tests in healthy individuals. The test's high accuracy and low risk of false positives make it a promising tool for early detection and prevention.
A genetic test targeting cattle could help control sleeping sickness by detecting the SRA gene, which allows T b rhodesiense to survive in human serum. The test has potential for targeted control of T b rhodesiense in livestock reservoirs, reducing public health burden.
A new test standard developed by NIST increases the accuracy of paternity testing through the use of 20 markers on the Y chromosome. The test helps simplify and validate DNA identification processes in forensic and human ID tests.
Researchers found transgenic DNA in four out of six native Mexican corn samples, including the presence of a popular insecticidal bacterium. The contamination is believed to have occurred through multiple pollinations over time, threatening the region's diverse genetic heritage.
Scientists have found a gene responsible for a rare form of hereditary spastic paraplegia, a condition that slowly robs children of their ability to walk. The discovery has opened the door to better diagnosis and treatment of the disorder, as well as insights into other spinal cord problems.
A new genetic testing service using quantitative fluorescence PCR has been implemented in the UK NHS, providing rapid diagnosis of fetal genetic abnormalities. The service has shown high accuracy and efficiency, with all tested samples yielding results within 1.25 working days.
Researchers identify Dmrt1 as a crucial gene for normal mammalian testis development, providing insights into human testicular degeneration syndrome. The discovery also highlights surprising molecular conservation between vertebrates and invertebrates.
The International Olympic Committee has discontinued gender testing at the Summer Olympics on a trial basis, supported by Yale physician Myron Genel. The tests were found to be inaccurate and potentially harmful to women with disorders of sexual development, who may have failed due to rare genetic abnormalities.
A new study found that cancer genetic testing can impact marital satisfaction, with couples experiencing increased anxiety and distress when discussing the process. Supportive spouses play a crucial role in mitigating these effects, while unsupportive responses can exacerbate relationship strain.
Researchers at Ohio State University have developed a new technique to improve the accuracy of genetic testing for cancer and inherited diseases. The method separates human chromosomes and allows for independent analysis of each copy, detecting key mutations that were previously missed.
Researchers at Johns Hopkins Medicine have developed a technology called Conversion that dramatically improves the accuracy of genetic tests for cancer risk. The technology separates alleles, allowing for individual analysis and detection of previously missed genetic alterations.
Researchers developed a new laboratory method to improve genetic diagnostic tests for colon cancer and inherited diseases. The technique detects defective genes that are masked when one copy is normal, increasing the accuracy of testing. This could lead to increased detection rates for many genetic diseases.
Scientists from the University of Wisconsin-Madison have developed a new surface chemistry that simplifies DNA computing and enables scaling up to tackle complex problems. This breakthrough demonstrates DNA computing's potential to surpass conventional computers in information storage and processing capabilities.
Researchers at Cold Spring Harbor Laboratory identified eight previously unknown genes associated with prostate cancer. The study's 'guilt-by-association' method used statistical analysis to link genes mimicking PSA activity to the disease.
A recent Yale Cancer Center study reveals that many experienced cancer genetic counselors would pursue genetic testing for BRCA or HNPCC mutations despite concerns about discrimination. However, the majority would not bill insurance companies or use aliases, and would only share test results with physicians.
A team of researchers has identified a genetic link on mouse Chromosome 19 that controls inherited susceptibility to testicular cancer. The discovery uses a new genetic technique called chromosome substitution, which may lead to improved understanding and treatment options for the disease.
A NIAAA-led study confirms that environmental factors can significantly impact the behavior of genetically identical mice, challenging traditional assumptions about genetic determinism. The research highlights the need for laboratories to replicate tests locally and standardize behavioral tests to minimize environmental influences.
Campylobacter is a leading cause of food poisoning, but lacked a reliable test until now. Researchers have developed a quick DNA test that can identify the bacterium in eight hours, and a scanner to detect faecal contamination on meat.
Researchers found that combining the Apolipoprotein E (ApoE) genetic test with clinical examinations significantly improved diagnosis accuracy for Alzheimer's disease. The study showed a 45% to 16% reduction in false positive diagnoses, emphasizing the potential of ApoE testing as a diagnostic aid.
A study found that 81% of women at risk for breast cancer planned to undergo genetic testing, driven by perceived benefits such as increased breast self-examination and better treatment options. Counseling is crucial to help them make informed decisions and manage potential psychological reactions.
Virginia Tech Professor Doris Teichler Zallen explains the options, limitations, and problems of genetic testing for disorders like Alzheimer's, breast cancer, and muscular dystrophy. She highlights the need for informed consumers to weigh the benefits and risks of testing against their personal values and circumstances.
A recent study by Johns Hopkins Medicine reveals that many patients undergoing gene testing for cancer susceptibility are not adequately informed about the test's benefits and limitations. The survey found that only 19% of patients received genetic counseling prior to testing, and 17% provided written informed consent.
The new test developed by Prof. Roald Nezlin of the Weizmann Institute solves a problem with standard tests by measuring the quantity of DNA in harmful complexes, indicating effective treatment. This approach could also be used to measure antibody complexes involved in other autoimmune diseases.