Articles tagged with Genetic Testing
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.
The University of Maryland Medical Center is now offering genetic testing to help doctors determine the best medication for each patient, based on their unique genetic makeup. This personalized medicine initiative aims to improve the quality of care provided to cardiac patients.
A nationwide study will examine the influence of genetic testing on clinical treatment decisions among breast cancer patients and their doctors. The 5-year American BRCA Outcomes Among the Recently Diagnosed (ABOARD) study will follow 5,000 Aetna members and provide critical information to improve personalized health care.
A new study from Northwestern University suggests that personalized PSA testing can help reduce the number of men who undergo unnecessary biopsies. Genetic correction of PSA levels using genetic variants has been shown to change the outcome for 17 men, and could potentially prevent 15-20% of prostate biopsies annually.
A study found that only 53% of newly diagnosed breast cancer patients who were at high risk of carrying a BRCA 1 or BRCA 2 mutation received a recommendation for genetic testing. Women who were older, had lower income, and were employed were less likely to receive the recommendation.
Researchers identified frequent patient-to-patient transmission of multidrug-resistant M abscessus subspecies massiliense despite strict infection control measures. Whole genome sequencing and antimicrobial susceptibility testing revealed clusters of genetically identical strains, suggesting widespread cross-infection.
PhenoDB is a new online database that enables clinicians to document cases of unusual genetic diseases, which can then be analyzed by researchers. The database captures standardized information about a person's phenotype, including symptoms and family history, to help understand the genetic variations involved.
Researchers validate resveratrol's direct activation of SIRT1, a protein promoting health and longevity. The study suggests potent drugs may treat and prevent age-related diseases.
A genetic mutation causing Pompe disease has been found in both humans and dogs. A genetic test can now diagnose canine Pompe disease, allowing for the identification of affected individuals and their breeding lines. This breakthrough could lead to improved treatment options and disease management.
The novel TP PCR test yields accurate results without unnecessary additional testing, improving diagnosis and prognosis by accurately sizing the genetic abnormality characteristic of HD. The test correctly sized 240 of 246 samples, including those with a wide range of CAG repeats.
Researchers identified a protective effect of excessive threat vigilance on PTSD development in infantry soldiers during combat deployment. The study found that genetic variations in the serotonin transporter gene were associated with this behavior, which can be trained through attention bias modification to reduce PTSD risk.
A study found that genetic testing revealed high-risk mutations in individuals but prompted them to take positive steps, including follow-up visits with a doctor and discussions with family members. The test results also led to a 'cascade effect' where relatives were subsequently tested and discovered they too had the mutation.
A study published in PLOS Medicine found that whole genome sequencing is more effective at tracing TB outbreaks than standard genotyping tests. The new test revealed that first outbreak isolates were falsely clustered by classical genotyping, providing valuable insights into the evolution of M. tuberculosis.
Researchers at Joslin Diabetes Center have successfully generated human induced pluripotent stem cells (hiPSCs) from patients with maturity onset diabetes of the young (MODY), a rare form of diabetes. The hiPSCs offer a powerful tool for studying the genetic mechanisms underlying MODY and testing potential treatments.
Researchers identified 24 new copy number variants with strong links to autism, providing potential genetic diagnosis for up to 10-12% of children with ASD. The study validates the genetic markers used in a commercial test, advancing early detection and treatment methods.
A five-year NIH grant supports a program to develop resident genomic pathology curriculum, expanding pathologists' role in interpreting and acting on genomics data. The initiative aims to bridge the gap between genetic research and practical application in patient care.
Researchers at the Kimmel Cancer Center at Jefferson developed diagnostic and prognostic genetic tests to better predict prostate cancer survival outcomes. The tests distinguish clinically-relevant cancers from normal prostate tissue in men with elevated PSA levels, offering a superior alternative to existing gene tests and the Gleason...
Researchers have discovered a rapid and reliable test using next-generation real-time PCR systems to detect Shiga toxin-producing E. coli in ground beef. This new method is expected to increase food safety by providing faster, easier, and more reproducible results.
Researchers have developed a novel method for screening ALK fusions in non-small cell lung carcinoma (NSCLC) that is sensitive, specific, and economical. The new test offers a high-throughput and cost-effective screening modality compared to existing tests.
A new microarray analysis has proven 40% more effective in identifying genetic causes of stillbirth than traditional karyotyping testing. The study, conducted by researchers at the University of Texas Medical Branch, provides strikingly more information for families seeking closure.
A genetic variation in the vitamin D receptor has been linked to a decreased risk of developing osteoporosis, according to a meta-analysis of 26 studies. The study suggests that individuals with this variation may have a significantly lower risk of bone mineral density loss.
Research suggests that perfect pitch is associated with a large memory span for speech sounds, facilitating early associations between pitches and spoken languages. Musically trained individuals from non-tonal languages can acquire absolute pitch, but it remains a rare talent.
A new genetic test has been developed to predict which patients with heart failure will respond best to the beta-blocker drug bucindolol. The test, based on two specific genes, analyzes a small blood sample and can identify individuals who are likely to benefit from the treatment.
A new study by 23andMe finds that combining family history with genetic testing provides the most accurate predictions for complex diseases. For highly common conditions like coronary artery disease, family history is essential, while genetic tests offer more value for less common diseases.
Researchers identified a genetic signature that distinguishes patients with complicated sarcoidosis from those with a more benign form. The 20-gene pattern can be used to identify patients at risk of serious complications and potentially life-threatening disease.
A new study has documented the experiences of women receiving abnormal prenatal chromosomal microarray testing results, revealing a range of negative reactions. The research highlights the importance of providing emotional support and nuanced counseling to help parents navigate the ambiguities of genetic testing.
A new genetic test developed by University of Melbourne researchers can predict the risk of developing Autism Spectrum Disorder (ASD) with over 70% accuracy in people of central European descent. The test identifies genetic markers that either contribute to or protect an individual from developing ASD, allowing for early interventions ...
Scientists have discovered a way to screen people for Mad Cow disease using a simple blood test, which could help boost critical blood stocks. The breakthrough involves recognizing specific 'signature genes' in the blood stream.
A recent study found that Magellanic penguins' high genetic variation in the MHC genome region is maintained by balancing selection, which favors heterozygous individuals with increased fitness. The study tested whether mate choice or genetic selection based on disease exposure drives this diversity.
A novel blood test can predict which heart failure patients are at risk of sudden death and may benefit from implantable cardioverter defibrillators (ICDs). The test measures changes in the SCN5A gene, which is involved in electrical activity in the heart.
Researchers at Ruhr-University Bochum found that acute stress increases DNA methylation of the oxytocin receptor gene, leading to excessive receptor production. This change may contribute to the development of chronic diseases such as cancer or depression.
The widespread adoption of prenatal whole genome sequencing could lead to increased anxiety in parents, altering societal views on normalcy and potentially influencing reproductive decisions. Additionally, the technology may impact child-rearing practices and the interests of children themselves.
A study published in PLoS ONE revealed the genetic cause of a severe skeletal disease in Brazilian Terrier puppies, caused by a mutation in the GUSB gene. The discovery enables the development of a DNA test to identify carriers, allowing breeders to systematically eliminate the disease from breeding programs.
Researchers at Wayne State University are working on a new technique to analyze fetal chromosomes in the first trimester, which could lead to healthier outcomes for mothers and babies. The approach involves collecting placental cells from the cervix using a safe and non-invasive method.
Researchers discovered a significant correlation between the number of colorectal polyps and genetic mutations, particularly in individuals with multiple adenomas. The study suggests that genetic evaluation for APC and MUTYH mutations may be considered in individuals with 10 or more adenomas.
Researchers at Brigham and Women's Hospital are conducting a new study, REVEAL, which will provide genetic testing and Alzheimer's risk estimates for individuals with mild cognitive impairment. The goal is to evaluate how well participants understand the risk information and adjust their behavior in response.