Articles tagged with Genetic Testing
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The study found that copy number variant (CNV) genetic testing can help diagnose and treat autism more effectively. CNV testing uncovered dozens of cases where autism-linked gene changes were associated with additional health risks warranting medical attention.
Researchers have identified a new genetic brain disorder associated with degeneration of the central and peripheral nervous systems, caused by a mutation in the CLP1 gene. The condition is characterized by reduced brain size, sensory and motor defects, seizures, brain atrophy, and neuronal death.
Researchers developed a genetic signature to identify men at high risk of prostate cancer recurrence after surgery or radiotherapy. The test uses DNA analysis from biopsy tissue and shows promise in predicting treatment failure with close to 80% accuracy.
Researchers develop genetically engineered mice with inherited brachyury gene change to study chordoma development. The mice will be made available to scientists through The Jackson Laboratory's repository.
Researchers at Dartmouth's Norris Cotton Cancer Center have compiled a review of genetic-based testing in breast cancer diagnosis and treatment. Genomic testing enables personalized therapy, increasing precision and success rates for patients.
Researchers found a rare hereditary syndrome associated with a 31% risk of disease in never-smokers carrying the germline EGFR T790M mutation. The study highlights the need for increased surveillance and screening for affected carriers, regardless of smoking status.
The Milieu Interieur Project characterizes healthy human immune responses using TruCulture technology, a proprietary blood collection system. The study reveals unique patterns of immune responses to complex stimuli, shedding light on genetic and environmental causes of immune variations.
A new non-invasive genetic test detected 92% of colon cancer cases, outperforming a traditional fecal immunochemical test in asymptomatic participants. The test's high sensitivity could lead to increased screening rates and reduced deaths from colorectal cancer.
A team of researchers from Ben-Gurion University has identified a severe genetic disease affecting Moroccan Jews, characterized by brain atrophy and mental retardation. The disease, PCCA2, is caused by two mutations in the VPS53 gene and can be eradicated through carrier testing.
A new study led by the University of South Florida found that molecular subtyping can better identify women at high risk of recurrence. The method classifies breast cancer tumors into four genetically-distinct categories, providing valuable information for personalized treatment decisions.
A new software system, XMLMATE, uses genetic algorithms to detect software errors, covering almost twice as many fatal errors as similar test methods. The system can be applied to various programming languages and applications, including computer networks, websites, and operating systems.
The PROCEDE 500 study demonstrates that the Prolaris test provides personalized risk assessment for prostate cancer patients, leading to significant changes in treatment plans. The study found a 50% reduction in surgical interventions and a 30% reduction in radiation treatment.
The 'Viewpoint' article highlights the complexity of developing genome-based therapeutics and companion diagnostics, which depend on multiple genetic tests. The authors argue for a unified plan to co-develop and co-submit diagnostic tests that predict drug benefit, addressing regulatory, business, and economic challenges.
A phase II clinical trial found creatine safe and well-tolerated by most participants, with neuroimaging showing a treatment-associated slowing of regional brain atrophy. The study also enrolled participants without knowing their genetic status, allowing them to participate while respecting their autonomy.
A panel of 35 genetically characterized DNA samples is now publicly available to help standardize Rett syndrome testing and improve diagnostic accuracy. The collection contains a wide variety of MECP2 mutations associated with most cases of the disorder.
A national poll shows that only 35% of respondents would seek aggressive preventive treatment if they had a family history of cancer and genetic testing indicated a predisposition to cancer. Despite current laws prohibiting discrimination, concerns about employment and insurability remain a major barrier to genetic testing.
Researchers used preimplantation genetic diagnosis (PGD) to identify mutation-free embryos and conceive healthy twins after a woman was diagnosed with a fatal genetic disorder. The treatment allowed for selective implantation of two mutation-free embryos, resulting in the birth of healthy twins.
The PROCEDE 500 clinical utility study demonstrates the significant clinical value of Prolaris to physicians treating men with prostate cancer. The test accurately predicts prostate cancer-specific death and metastases, guiding treatment decisions and reducing therapeutic burden on patients.
Researchers at USC identify a gene that delays aging effects depending on dietary intake, suggesting a genetic basis for individual nutritional needs. This breakthrough may lead to tailored diets based on an individual's genetic makeup, potentially enhancing overall health and longevity.
A new study published in the Journal of Clinical Oncology found that telephone genetic counseling is comparable to in-person counseling. The study, led by Georgetown University Medical Center, involved 669 women and showed that phone counseling reduces costs and expands access to genetic testing for rural areas.
Researchers have created a test called MACRO that can flag about 97% of known commercialized modifications, making it easier for policymakers to monitor genetically modified (GM) foods. The new method combines two well-known genetic methods and can be easily expanded to include future GM crops.
Scientists at MD Anderson Cancer Center discovered that exosomes, tiny particles shed by cancer cells, contain the entire genetic blueprint of cancer cells. This finding could lead to a blood test that detects cancer gene defects and helps physicians treat patients earlier.
Researchers at The Feinstein Institute for Medical Research have discovered a genetic overlap between schizophrenia and general cognitive ability. This finding provides molecular confirmation of the overlap, revealing that patients with schizophrenia also experience reduced cognitive abilities.
A Fox Chase Cancer Center study found that relatives of patients who undergo genetic testing often misinterpret the results, with over one-quarter reporting incorrect interpretations. This can lead to a lack of understanding about their own genetic risks and missed opportunities for cancer prevention.
A new disease related to NKH has been discovered through genetic research led by University of Colorado professor Johan Van Hove. The variant, also known as non-ketotic hyperglycinaemia, shares similar symptoms with NKH and was found in eight patients from around the world.
A brain reward gene variant has been linked to childhood obesity and tasty food choices, especially in girls, according to a new study. The genetic predisposition combines with environmental stress and emotional well-being to drive consumption of foods that promote obesity.
A national survey of pediatricians found that many order few genetic tests, don't discuss risks and benefits, and take limited family histories. The study highlights the need for robust education, access to resources, and improved electronic health records systems to enhance integration of genetic medicine into routine primary care.
A new gene therapy has shown promising results in reversing heart failure by delivering the SUMO-1 gene directly to the heart. In preclinical testing, the therapy improved cardiac function, reduced heart volumes, and enhanced blood flow compared to other treatments.
A new study finds that 65% of Americans agree clinicians should be involved in explaining DTC genetic test results. This concern is shared by physician groups and medical journals, highlighting the importance of doctor guidance on interpreting genetic risks.
Researchers used a genomic sequencing approach to evaluate all 24 genes implicated in breast cancer in women with normal BRCA genes. The study found that over 25% of these patients carried cancer-predisposing mutations in genes other than BRCA1 or BRCA2.
A study led by a CU School of Medicine researcher has confirmed the Gene Expression Classifier (GEC) test can accurately identify benign thyroid nodules, significantly reducing the need for unnecessary surgeries. The test was found to have a very high negative predictive value, with only one nodule out of 71 identified as cancerous.
Researchers have identified the genetic basis for resistance to amitraz in cattle ticks, which can cause devastating diseases. The discovery paves the way for a new genetic test that will help farmers make informed management decisions.
A new diagnostic test for detecting BRCA1 and BRCA2 mutations has been developed using second-generation sequencing technology. The test is as sensitive as standard methodology but has the potential to improve efficiency and productivity in genetic testing laboratories.
Researchers have pinpointed a specific gene responsible for Prader-Willi syndrome, an imprinted disease affecting muscle tone, feeding difficulties, and intellectual disability. The study identified mutations in the MAGEL2 gene, which was found in three additional patients with similar symptoms.
A genomic test developed by researchers at Duke University Medical Center shows over 90% accuracy in distinguishing between viral and bacterial infections. The test detects a specific genetic signature expressed by the immune system in response to viruses, providing a potential new method for diagnosing infectious diseases.
New rapid diagnostic tests have been shown to diagnose drug-resistant tuberculosis (TB) in a quarter of the time taken by current methods. The three new tests - pyrosequencing, HAIN line probe test, and microscopic observation drug susceptibility (MODS) test - produced similar results to standard testing with 95-98% accuracy.
A new study found that genetic testing for weight gain risk does not deter people from weight loss efforts, but rather alleviates emotional stress and stigma associated with weight control. The results suggest that individuals recognize the importance of both genetics and behavior in maintaining a healthy weight.
A University of Michigan biologist and colleague challenge the notion that genetic reproductive barriers are a driving force behind speciation. Their study found no evidence that genetic barriers to reproduction predict the rate at which new species form in nature.
A case study published in the Medical Journal of Australia reveals that life insurance companies have made incorrect risk-assessment judgments based on genetic information. The authors call for a more collaborative approach between industry, government, and researchers to address these issues.
A new PRA gene has been identified in the Phalene and Papillon dog breeds, causing progressive blindness in dogs. The CNGB1 mutation is linked to human retinitis pigmentosa, highlighting the shared genetic etiology of canine and human diseases. Genetic testing can help breeders avoid affected puppies and provide a diagnostic tool.
Researchers have developed a new diagnostic approach combining antibody and genetic tests to detect coeliac disease in Australians. The study found that more than half of the population has genetic risk factors for developing coeliac disease.
Researchers found genetic associations for four odors: malt, apple, blue cheese, and β-ionone. The study suggests that individual sensitivities to these compounds determine unique smells experienced in foods and drinks.
Researchers will use whole genome sequencing to inform couples about reproductive risks before they conceive, testing for rare diseases like Tay-Sachs and Canavan. The study aims to provide accurate genetic information to help couples make informed reproductive decisions.
A study by Stanford researchers found that genetic testing improved student learning in a personalized medicine class. Students who had their genome tested as part of the course showed a 31% increase in knowledge compared to those who didn't undergo testing.
A team of Harvard scientists has identified genetic areas in the genome that may help protect against cholera by regulating immune system functions and fluid loss. The study's findings suggest a new approach to understanding host immunity and developing vaccines and therapies for this deadly disease.
A study by Loyola University Chicago Stritch School of Medicine researcher Katherine Wasson and colleagues provides insight into how primary care patients experience genetic testing. Most participants found results easy to understand with the help of a genetic counselor, but few could interpret them on their own.
A study from Georgetown University Medical Center found that more than half of mothers disclose their genetic test results to their children, especially teenagers. Mothers who don't share the information with their children tend to be unsatisfied with their decision.
A recent study suggests that genetic risk assessments could predict which children with asthma are likely to grow out of the condition. The analysis of data from a 40-year longitudinal study revealed that higher-risk genetic variants linked to asthma were associated with a greater likelihood of developing life-long-persistent asthma.
At least half of birth-related deafness and many progressive hearing losses have a genetic basis. New sequencing technologies identify 1,000 mutations linked to hearing loss in 64 human genes. This knowledge will lead to practical treatments and effective genetic counseling.
Researchers at Tel Aviv University found that mannitol prevents clumps of α-synuclein protein from forming in the brain, a process characteristic of Parkinson's disease. Mannitol has been shown to reduce aggregates of α-synuclein in genetically-altered flies and mice.
A new genetic test can accurately identify benign thyroid nodules in nearly all cases, potentially saving thousands of surgeries and eliminating the need for permanent hormone supplementation. This breakthrough test could have a major impact on healthcare costs and complications related to unnecessary medical procedures.
Researchers have identified a new biomarker for colorectal cancer detection using serum DNA analysis, detecting 87% of all stages of CRC cases. The SDC2 methylation test has high sensitivity and specificity, making it a promising non-invasive alternative to colonoscopy.
A new study reveals low uptake of genetic testing for cancer-causing mutations in affected families in France. Despite steady increase in tests for BRCA1/2, MMR mutation testing remains under-used, putting whole families at risk.
A new DNA test has been developed to identify kangaroo species from their droppings, providing valuable information for population management and conservation. The test has already identified several species outside of their known range, with implications for biodiversity management and climate change impacts.
Researchers found individuals with autism spectrum disorders have significantly decreased metabolism of amino acid L-tryptophan, leading to potential early blood screening tests. The study also identified genes involved in L-tryptophan metabolism, paving the way for therapeutic options.
Researchers have identified a genetic marker that can improve the predictability of warfarin dosing in African Americans, with potential benefits for patient safety. The study found that individuals carrying a specific polymorphism may require lower doses of the blood-thinning medication.
A large multi-generational family study has identified a genetic mutation that increases the risk of developmental dysplasia of the hip (DDH). The researchers found a common variant co-inherited by all affected family members, which may affect cartilage formation and delay development.
A large scientific study has discovered two new genes associated with severe seizure disorders in infants and children. The finding will lead to new tests to diagnose these conditions and promises to improve outcomes for affected families.
A pan-European study found that certain signs of motor disorders can appear years before the actual disease manifests. The researchers detected these signs using a mathematical model and extensive tests, including standardized tests of muscular coordination and magnetic resonance imaging.
A new paper in Science pushes back against recent recommendations from the American College of Medical Genetics and Genomics, arguing that returning genetic incidental findings without patient consent violates basic human rights. The authors urge patients' autonomy to remain firmly in place as science advances.