Articles tagged with Genetic Testing
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Researchers found a group of seven genes that significantly impact platelet clumping, offering new targets for developing diagnostic tests and treatments for arterial disease. The study used data from two large studies to identify the genetic factors behind blood clotting, providing insights into promoting healing and stalling disease ...
A consensus statement recommends chromosomal microarray (CMA) as the new standard practice for genetic evaluation of children with unexplained developmental delay, autism or birth defects. CMA consistently has a diagnostic yield of 15 to 20 percent, compared to five percent with G-banded karyotyping.
A recent White Paper report by the American Society of Human Genetics (ASHG) highlights issues with genetic ancestry testing, including imprecise definitions and lack of standard guidelines. The task force recommends a collaborative approach among stakeholders to address concerns and develop best practices.
A Brandeis biochemist confirms Darwin's theory of universal common ancestry using a large-scale, quantitative test. The study finds that all life forms share a genetic heritage from single-celled microorganisms to humans, supporting UCA millions of times over alternative theories.
A breakthrough finding from Tel Aviv University may lead to earlier diagnosis, more effective intervention, and perhaps even a cure for multiple sclerosis. Researchers have uncovered new ways of detecting MS in the blood through their research at Sheba Medical Center, allowing for potential early treatment.
A genetic study of island lizards reveals they freely exchange genes, contradicting the prediction that geographical isolation would lead to separate species. The findings suggest ecological speciation due to differences in environmental conditions may play a crucial role in speciation.
Researchers found a gene expression test reduced biopsies and was safe, resulting in similar two-year outcomes as traditional biopsies, and was preferred by patients. The test measures 11 genes associated with heart transplant rejection, reducing the need for invasive heart muscle biopsies.
A recent study found that a gene variant associated with the COMT gene may help protect against decline in cognitive function among older adults. The Val variant showed a protective effect on thinking skills, outperforming those without the variant by up to 45%.
Exclusive licenses to gene patents hinder competition and innovation in genetic testing, according to researchers at the Duke Institute for Genome Sciences & Policy. The findings suggest that overly broad patent claims are the primary issue, rather than patents themselves.
Researchers from Duke University found that exclusive patents in gene testing slow promising new technologies and business models. The studies examined genetic risk testing for 10 clinical conditions, including breast and colon cancer.
Researchers at NYU Langone Health have developed a powerful new method to investigate the discrete steps necessary to turn on individual genes. The finding allows scientists to examine the unfolding of DNA, a process required for gene activation, which breaks down in diseases like cancer.
A large study finds that chromosomal microarray analysis has about three times the detection rate for genetic changes related to autism spectrum disorders (ASDs) than standard tests. The test detects tiny sub-microscopic deletions or duplications of DNA sequences, offering greater resolution than standard karyotyping.
The Autism Consortium study reveals that chromosomal microarray analysis (CMA) has the highest detection rate among clinically available genetic tests for autism spectrum disorders. CMA identified 18.2% of patients with deletions or duplications, compared to 2.23% and 0.46% for standard testing methods. The study recommends CMA as part...
The discovery reveals QPD is caused by an extra copy of the PLAU gene, leading to overproduction of an enzyme that accelerates blood clot breakdown. This breakthrough genetic test will uncover many more cases and provide fundamental insights into how the uPA gene is controlled.
A new genetic test has been developed by CAMH scientists Dr. John Vincent and Dr. Muhammad Ayub to analyze CC2D2A gene mutations causing about 10% of intellectual disability cases. The test aims to provide more accurate diagnosis and offer appropriate genetic counseling for affected families.
Researchers found a strong association between the DRD4 gene and novelty seeking behavior in great tits, but results varied across different populations. The study's findings mirror those of human research, suggesting that genetic factors may play a role in shaping personality traits.
A new approach to smoking cessation uses individualized risk assessments to motivate smokers to quit. Studies show that tests like Respiragene improve quit rates by providing smokers with personalized information about their risk of lung cancer and other smoking-related diseases.
A new study from UC Davis Health System identifies a key protein called SynDIG1 that plays a crucial role in creating and sustaining synapses, essential for learning, memory, and perception. The research fills a major gap in understanding the molecular foundations of higher cognitive abilities and brain disorders.
A new study with Brazilian dwarves suggests human growth hormone deficiency has no effect on normal lifespan. Contrary to previous claims, HGH levels do not seem to positively or negatively impact lifespan.
Duke University is developing a rapid and accurate genomic-based diagnostic test to determine radiation exposure from a dirty bomb or nuclear attack. The test, which uses a signature of gene expression, shows over 90% accuracy in diagnosing radiation status.
A landmark study by Dr. Kathy Albain of Loyola University Health System found that chemotherapy improves survival in postmenopausal breast cancer patients, while a multigene test can identify those who may not benefit from chemotherapy. The study established the standard of care for tamoxifen treatment in relation to chemotherapy.
The study utilizes a viral-based gene transfer system to make Nerve Growth Factor (NGF), which helps maintain nerve cell survival in the brain. Participants will receive CERE-110 via neurosurgery or placebo surgery and undergo thorough medical examinations and cognitive testing.
Researchers analyzed patients with a syndrome similar to NF1 and found that diagnosis may be difficult due to shared clinical findings. The study highlights the importance of molecular genetic testing to resolve diagnoses in cases of uncertainty.
Researchers at the University of Oregon and University of Rochester discovered a compound that reverses genetic defects in RNA leading to type 1 myotonic dystrophy. The compound, pentamidine, disrupts complexes formed by expanded repeats and protein molecules, allowing proper splicing errors to be rescued.
A Mayo Clinic study found that genetic testing results are not binary but probabilistic, requiring physicians to meticulously interpret test results. The study also showed that about 4% of healthy Caucasian volunteers have rare variants present in the background noise of genetic tests.
A study by UC Irvine neuroscientists found that people with a particular gene variant performed more than 20 percent worse on a driving test than those without it. The variant limits the availability of brain-derived neurotrophic factor, which keeps memory strong.
Women without HOXA13 gene mutations do not need x-rays and tests for hand-foot genital syndrome, according to a new study. Hand-foot genital syndrome affects reproductive and urinary systems development.
Two studies by Dartmouth researchers analyzed how personal genetic testing companies use genome data to judge customer health, finding the knowledge base is still in its infancy. The authors also used genetic data to reveal ancestry information, discovering six subgroups of people with distinct genetic backgrounds.
The introduction of new prenatal tests for Down syndrome has led to a steady decrease in births of babies with the condition since their introduction. Experts argue that existing tests may not be providing accurate information, leading to difficult conversations between physicians and expectant parents. To address this, researchers are...
A new cost-effectiveness study found that genetic testing for metastatic colorectal cancer patients may be beneficial if it leads to nearly as effective dose-reduced treatment, improving life expectancy and reducing healthcare costs. The test identifies patients with a specific DNA variation that increases the risk of severe neutropenia.
The American College of Clinical Pharmacology warns of the lack of supervision in direct-to-consumer genetic testing, emphasizing the need for clinical pharmacologists to educate patients on potential risks and limitations. Effective government regulation and professional guidance are crucial to ensure safe and informed decision-making.
Researchers tested individuals with a parent with Alzheimer's disease and found that learning their genetic risk did not result in lasting psychological harm. Genetic counseling helped put the test results into context, reducing distress levels.
A Stanford bioethicist and colleagues argue that the lack of federal regulation in genetic ancestry testing poses significant ethical concerns, including potential misuse and a lack of informed consent. The authors call for stronger oversight and industry standards to protect vulnerable groups.
A UCLA study found that most cancer patients with ocular melanoma would want genetic testing to predict metastasis risk, regardless of treatment availability. The test results showed little impact on quality of life or depression symptoms, suggesting it could provide a valuable tool for planning and emotional preparation.
A new study published in Journal of General Internal Medicine found that few women with family histories of hereditary breast or ovarian cancer are discussing genetic testing with their physicians. Most high-risk women are unaware of the available test or have not discussed it with their clinician.
Researchers identified a new strain of Chlamydia that spread rapidly across Sweden due to an evolutionary 'hiccup' in its genetic code, allowing it to evade most established diagnostic tests. The study provides valuable insights into the evolution of the bacterium and highlights the need for updated diagnostic tools.
A new study by researchers at the Lombardi Comprehensive Cancer Center found that mothers who disclose their BRCA1 or BRCA2 genetic alterations to their children experience a more open parent-child communication relationship. Mothers are more likely to discuss test results with their children, especially when testing reveals no alterat...
Boys with Duchenne Muscular Dystrophy symptoms show signs for over a year before diagnosis and disease-specific treatment, highlighting the need for early detection and intervention. A simple and inexpensive blood test could accelerate this process, enabling timely treatment and improving outcomes.
Researchers discovered a genetic variant that can predict patients' risk of developing shock and kidney failure after heart surgery. Patients with the 'LL' gene variant are more likely to experience these complications and may not respond well to standard treatments, highlighting the potential benefits of personalized medicine.
A gene test can help predict patients' risk of shock and kidney failure after heart surgery by identifying genetic differences in the COMT enzyme. This knowledge can guide treatment to prevent complications.
Researchers propose trial designs to investigate the impact of physical activity and weight control on breast cancer risk, with potential causal relationships. Clusterin is identified as a tumor suppressor gene in mouse models of neuroblastoma, where its expression affects tumor growth and metastasis.
Researchers created a cell culture model that accurately mimics HCN channel function in whole mammalian hearts, enabling the genetic reprogramming of individual channels. This breakthrough facilitates the development of practical biological pacemakers by allowing for rapid assessment of channel mutations before animal testing.
Researchers at UCLA have identified a gene mutation responsible for short-rib polydactyly syndrome, a deadly disorder that kills newborn babies. The discovery will allow for earlier testing of embryos at risk for the disease, potentially saving lives and reducing the emotional burden on families.
Dr. Roberta A. Pagon, a renowned medical geneticist, has received the March of Dimes/Colonel Harland Sanders Award for her groundbreaking work in developing the public database genetests.org, which helps doctors analyze genetic tests for making informed medical decisions.
The new center aims to prevent, treat, or cure Huntington's disease by 2020 through cutting-edge research and collaboration with pharmaceutical companies. Investigators will focus on identifying potential drug targets and developing innovative technologies to modulate the disease.
A new study by UT Southwestern Medical Center researchers has pinpointed damage inside the brains of Gulf War syndrome patients, linking their illness to chemical exposures. The research identifies areas of the brain that function abnormally, including the basal ganglia, hippocampus, and thalamus.
A Special Report in The Lancet Oncology explores the complexities of sharing genetic information with close relatives to prevent breast cancer. Experts weigh the pros and cons of adjusting the law, considering patient confidentiality, personal privacy, and the potential benefits of early interventions.
A study found that parents of children with genetic conditions are avoiding subsequent pregnancies instead of undergoing pre-natal testing or abortion. This 'ambivalent' response is rooted in a deep-seated concern about the limitations of new reproductive technologies and the risks involved.
A study published in PLoS Genetics found that genetic screening for diseases like cancer and heart disease may not accurately predict individual risk due to limited genetic variants associated with each condition. This limits the effectiveness of personalized genetic testing currently offered by companies.
A study found that consumers desire more genetic testing for life-altering conditions such as mental retardation, blindness, and cancer, but are less interested in prenatal testing for traits like superior intelligence or athletic ability. The study suggests that consumers prioritize screening for diseases over enhancements.
New analysis by University of Cincinnati researchers found that genetic testing to guide initial dosing of warfarin may not be worth the costs for typical patients. However, it could be beneficial for those at high risk of major bleeding. The study suggests that testing should be done in-house and at lower cost without delays.
A recent Ontario study found that only 19% of women with invasive ovarian cancer were referred for genetic testing of BRCA1 and BRCA2 genes, highlighting a lack of awareness about the risks and benefits of genetic testing. This omission puts family members at risk as they are unaware of their potential cancer risk.
New guidelines developed by the American Academy of Neurology identify a combination of blood tests and other specialized assessments as the most helpful for finding the cause of neuropathy. These tests can often point to common causes of neuropathy, such as diabetes or heredity.
Research by the M.I.N.D. Institute shows that mutations of the fragile X gene cause a range of diseases, including neurodevelopmental delays, autism, infertility, and neurodegenerative disease in older adults. The institute urges testing for all patients who show signs of diseases linked to FMR1 mutations.
A new microarray analysis technique improved prenatal diagnosis for detecting chromosomal abnormalities in 300 cases at Baylor College of Medicine. The test identified 58 copy number variations, including 15 significant findings that would have been missed otherwise.
A randomized trial of over 36,000 postmenopausal women found no association between calcium and vitamin D supplementation and reduced breast cancer risk. The findings challenge previous observational studies suggesting a potential link between vitamin D levels and breast cancer incidence.
DeCODE's DNA-based risk tests have been shown to increase accuracy of MI risk prediction by measuring genetic markers on chromosomes 9p21 and 4q25. These tests provide a new tool for improving screening, prevention, and treatment of cardiovascular conditions.
deCODE's DNA-based tests measure genetic markers linked to increased cardiovascular conditions' risk. These tests provide doctors with a new tool for improving screening, prevention, and treatment.
A team at Montana State University has discovered a fungus that produces diesel fuel, which could offer an alternative to fossil fuels. The fungus, called Gliocladium roseum, can grow in cellulose and produce medium-chain hydrocarbons.
Researchers developed a simple blood test that measures inflammatory gene expression to evaluate cystic fibrosis patients' response to therapy. The test identified genes CD36, CD64, and ADAM9 as accurate biomarkers for therapeutic response.