Articles tagged with Genetic Testing
Researchers found that serum neurofilament levels are significantly higher in patients with frontotemporal dementia than those with psychiatric disorders. This biomarker shows promise for differential diagnosis and prognostication of the disease.
A new breeding method uses genetic profiles to predict disease resistance in beans, speeding up the process and reducing pesticide use. The method has been applied to 316 varieties of beans and shows promise for increasing crop yields and improving food security in Africa and Latin America.
A study supports genetic testing for all metastatic breast cancer patients to identify additional patients with increased risk of certain mutations. This strategy may also help determine response to targeted therapies such as PARP inhibitors for HER2/ERBB2 negative breast cancer.
A recent study found that fewer than 4% of relatives receive information on family screening that could prevent further deaths. Early systematic investigations are crucial to understanding the underlying cause of sudden cardiac arrest, but often lack core testing such as CT scans and echocardiography.
Researchers at Brown University developed a simple method to isolate trophoblast cells from cervical swabs, which carry the complete fetal genome. This technique enables less invasive diagnosis of genetic disorders in developing fetuses, increasing the proportion of trophoblasts by 700%.
VTT scientists developed a genetic test to detect diastatic yeasts, which cause off-flavours, increased alcohol, and over-carbonation. The new method differentiates between problematic and harmless strains, offering breweries savings in time and cost.
New USPSTF recommendations for BRCA1/2 genetic testing are beneficial, increasing use of genetic counseling and testing for those with high risk. However, concerns remain about large-panel genetic tests, direct-to-consumer multi-panel tests, and racial and socioeconomic disparities in genetic testing uptake.
Researchers found EV RNA in CSF of 4 out of 567 total confirmed AFM cases, but significantly higher antibodies to EV peptides in 11 of 14 AFM patients. The study suggests enterovirus infection as a cause for acute flaccid myelitis (AFM) in children.
FutureNeuro researchers integrated genomics data into the Irish National Epilepsy Electronic Patient Record system, enabling personalized treatment plans for individuals with unknown cause epilepsy. The new system facilitates multidisciplinary meetings and review of genomic test results to determine genetic causes, leading to better di...
Researchers discovered 43 specific genetic mutations required for leukemia development in children with Down syndrome. The study identified additional genetic changes transforming preleukaemic cells into leukaemic ones.
Researchers create a genetic map of three vegetables, revealing new insights into their origins and potential for improvement. By tracing the evolutionary history of canola, rutabaga, and Siberian kale, scientists identify genes that could lead to more nutritious and resilient crops.
A new special report by The Hastings Center examines the psychosocial impacts of genetic information, highlighting both potential harms and limitations. Studies suggest that genetic testing can have negative effects on individuals and families, particularly in contexts where stigmatization or anxiety is heightened.
Researchers reviewed gene sequences of over 70,000 people and found that only 5% of patients with a TTN gene mutation developed dilated cardiomyopathy. Despite this, subtle differences in heart function were detected in those with the mutations, suggesting that pinpointing these genes may not be a reliable predictor of heart disease.
A recent study calling for expanded genetic testing for hereditary breast cancer has been criticized by researchers at the University of Cambridge. The criticism highlights methodological flaws in the study and potential conflicts of interest among its authors, leading to concerns about the accuracy and practicality of such tests.
A new test may improve the accuracy of selecting healthy embryos for IVF by analyzing DNA leaked from human blastocysts. The test, known as niPGT-A, outperformed current PGT-A methods with a lower false positive rate.
A new noninvasive test for genetic disorders in embryos resulted in fewer false negatives and was less prone to errors compared to traditional trophectoderm biopsy. The study tested 52 human blastocysts and found the method to be more reliable with no false positives detected.
A study found that 94% of patients who underwent embryo genetic testing before IVF were glad to have the information, despite potentially disappointing results. The research suggests that even after a negative outcome, most women value the knowledge gained from embryo testing for reproductive planning.
A new non-invasive prenatal test has been developed to diagnose sickle cell disease in unborn babies. The test uses cell-free fetal DNA and has shown promising results, with successful diagnoses achieved in 21 out of 24 pregnancies. Further development and validation are needed before the test can be introduced into clinical practice.
Broad-spectrum genomic testing can identify genetic markers that respond to targeted therapies for specific cancer-causing mutations. This technology has connected patients with life-saving clinical trials and medications.
A new research study uses polygenic risk scores to predict heart disease risk in French Canadians, with high accuracy and sensitivity, similar to other populations. The score can identify individuals at high risk for cardiac disease, allowing for early detection and effective therapeutic interventions.
New guidelines recommend nucleic-acid amplification tests (NAAT) for diagnosing Clostridioides difficile infection. NAAT testing practices are considered the most effective, with a recommended algorithm combining GDH/TOXIN/NAAT tests.
A survey of community oncologists found significant knowledge gaps in using genetic testing to decide cancer treatment. Researchers urge immediate education on molecular profiling to direct targeted therapies.
A new study reveals that up to 90% of individuals at risk for Huntington's disease choose not to take a gene test, primarily due to uncertainty about treatment options and the inability to undo the knowledge. The study suggests that supportive counseling is necessary to help these individuals make informed decisions.
Researchers at the University of Cambridge have developed a new test that can reliably predict the future course of inflammatory bowel disease in individuals. The accuracy of the test is comparable to similar biomarkers used in cancer, with an accuracy rate of 90-100% in correctly identifying patients who do not require multiple treatm...
Researchers used genetic maps to identify genes controlling fiber length in Sealand cultivars, which improved fiber quality while maintaining or increasing yields. This breakthrough could help breeders overcome the yield vs quality challenge in cotton breeding.
TeraPCA, a new tool developed by Purdue University researchers, is designed to analyze large genetic datasets more efficiently. By making approximations of top principal components and leveraging multithreading, TeraPCA can process data in five or six hours compared to two days with existing methods.
A study found that poor sense of smell is associated with a 46% higher mortality rate at year 10 and 30% higher mortality rate at year 13 compared to those with good olfaction. The association could not be explained by demographic characteristics, lifestyle, or comorbid conditions.
A new UCL-led study investigates three genetic markers that influence cannabis addiction. Researchers found differences in cognitive mechanisms and identified a specific gene associated with increased craving and attraction to cannabis-related imagery.
A new genetic test, known as the Obesity Genome-wide Polygenic Score (GPS), has been developed to predict an individual's risk of developing severe obesity. The test uses a genetic score based on over 2 million variations in a person's genetic code and shows high predictive power.
The article discusses the potential of liquid biopsy in cancer diagnosis, focusing on targeted disease diagnosis and detection of cancer biomarkers. Researchers have successfully detected specific genetic mutations using digital PCR, identifying promising biomarkers for various cancers, including melanoma and lung squamous cell carcinoma.
A recent study found that fewer than a quarter of breast cancer patients and a third of ovarian cancer patients underwent genetic testing for cancer-associated mutations. The research, which analyzed data from over 83,000 women diagnosed with breast or ovarian cancer in California and Georgia between 2013 and 2014, revealed substantial...
A Vanderbilt University Medical Center research team successfully developed a protective antibody-based treatment against the Zika virus, completing the challenge in just 12 days. The breakthrough could pave the way for rapid deployment of treatments to prevent outbreaks and pandemics worldwide.
EpiSign analyzes DNA methylation patterns to diagnose or resolve variants of uncertain significance in patients with genetic disorders and congenital anomalies. The test has identified unique epigenetic signatures for 19 genetic disorders, including those associated with intellectual disability and congenital anomalies.
A new computational model facilitates diagnosis of previously unsolved cases of neurodevelopmental and congenital abnormalities by examining DNA methylation. The test resolved dozens of new cases, providing a specific diagnosis that can help predict the course of the disease.
The revised guidelines address pharmacogenetics, diagnosis of mental disorders with new molecular genetic technologies, and ethical challenges of genetic testing in psychiatric patients. Key findings include a lack of consensus on CNV testing in adults with mental illness and the need for more research to identify relevant genes.
Researchers developed a simple and inexpensive way to measure C-peptide, allowing clinicians to accurately diagnose type of diabetes and tailor treatment. The test has been used on over 750 patients with Type 1 diabetes diagnosis and shown that some have other types of diabetes, enabling them to stop insulin treatment.
The new rapid genetic test detects the Macrolide efflux gene A, which causes resistance to erythromycin and azithromycin. The test works as accurately as culture-based methods but gives results in minutes, improving point-of-care diagnostics and potentially leading to better outcomes.
Researchers analyzed blood samples collected between March 2016 and June 2017, identifying 40 samples positive for Chikungunya virus. The study suggests the virus may have circulated as early as 2012 and was likely imported from Central Africa.
Researchers developed a non-invasive blood test to map fetal genomes and detect genetic disorders with high accuracy. The test can identify countless diseases caused by small impairments in the fetal genome, offering a safe and simple procedure for parents-to-be.
Scientists used genome sequencing to improve diagnoses of abnormalities in developing babies picked up during ultrasound scans, with a 10% increase in accurate diagnoses. The study supports the mainstream use of genetic testing to provide clearer answers for parents about their child's condition.
A team of researchers has found that the four gap genes in Drosophila embryos can be jointly decoded into an optimal specification of position, suggesting that cell identities are established close to optimally. The study challenges the traditional textbook model of how positional information is conveyed in the embryo.
A new prenatal genetic testing approach has been shown to improve the diagnosis of fetal anomalies, identifying a significant cause in nearly half of affected pregnancies. The technique, known as whole exome sequencing, offers a valuable addition to standard prenatal tests, providing clear diagnoses and easing parental fears.
A new esophageal cancer screening test called EsophaCap has been developed using genetic biomarkers to detect the deadly disease. The test involves swallowing a small capsule that dissolves into a sponge, which collects genetic material from the entire length of the esophagus and is then sent for analysis.
A new study found that African-American women are less likely than white women to pursue potentially life-saving preventive care due to racial disparities in healthcare. High-risk black women were also less aware of their options and at a disadvantage when it came to getting access to information about prevention.
Pharmacogenetic testing, which maps a person's genetic makeup, can ensure patients receive effective and safe medications. This technology has the potential to deliver an economic benefit of $12 billion over five years to the national health system in Australia.
The American College of Medical Genetics and Genomics (ACMG) has released new guidelines to help providers develop policies/procedures for re contacting patients after revising genomic test results. The guidelines aim to address the complex questions surrounding patient re contact, including legal, ethical, and practical issues.
Over two decades, medical marketing in the US has seen a dramatic increase from $17.7 billion to $29.9 billion, with TV and digital advertising driving the largest growth. However, oversight of these activities has remained limited, despite significant spending and promotional efforts by drug companies.
A new study finds that genetic testing for breast cancer does not cause excessive anxiety, even with ambiguous results. Researchers surveyed 1,063 women and found that the type of test or result did not significantly impact worry levels.
A new study found that genes cause about 1 in 10 cases of chronic kidney disease in adults, and identifying the responsible gene has a direct impact on treatment. DNA testing reclassified the cause of kidney disease in 1 out of 5 individuals with a genetic diagnosis.
Estonian scientists have developed a genetic testing technology called TAC-seq, which enables precise analysis of clinical biomarkers at the single-molecule level. This method raises the precision of biomarker analysis and is poised to make it more affordable.
A Genetic Data Protection Act is needed to control access to medical genetic data by law enforcement agencies, according to a University of Queensland analysis. The researchers warn that current laws do not fit well with genetic data, putting vulnerable individuals and their descendants at risk.
Researchers developed SPAEML, a statistical approach that can accurately detect the underpinnings of simulated complex traits. The method was tested on datasets similar to Alzheimer's disease and flower structure in corn, identifying simulated markers and distinguishing between additive and interacting loci.
The Translational Genomics Research Institute (TGen) has received a $10,000 grant from PayPal Gives to support the cost of genetic testing for low-income children with rare disorders. The grant will help TGen's Center for Rare Childhood Disorders provide state-of-the-art genetic testing and potentially save the lives of fragile children.
An international study has discovered 35 kidney genes linked to chronic kidney disease risk, bringing a step closer to understanding, diagnosing, and preventing the disease. The study used next-generation RNA sequencing on one of the largest collections of human kidneys.
A study suggests that pharmacogenetic tests don't provide significant benefits in selecting antidepressant or antipsychotic medications. Instead, understanding drug metabolism can predict which drugs are likely to work well for individual patients.
A new study from UT Southwestern found that nearly a third of children with epilepsy had a change in diagnosis based on new data, leading to more effective treatments. The research calls for regular reviews of gene tests to ensure diagnoses and treatments are based on the latest discoveries.
Researchers discovered that even tiny genetic variations between plants can significantly improve their combined yield when grown together in mixed communities. By analyzing the genetic makeup of different plant crosses, they identified key genes responsible for enhancing team performance.
Researchers at Boston University School of Medicine discovered a strong link between chronic inflammation and increased risk for Alzheimer's disease in ApoE4 carriers. Sequential measurements of C-reactive protein revealed that ApoE4 linked with chronic low-grade inflammation significantly increases AD risk.
A new study found that consumer genomic databases can identify nearly anyone in a population once genetic data covers 2%, raising significant privacy concerns. The results highlight the power of rapidly growing consumer genomic datasets and suggest a need for policies to ensure genetic privacy.
A study by Stanford Medicine and the Undiagnosed Disease Network has diagnosed over 100 patients with previously unknown ailments, providing actionable information for treatment. The network, created in 2014, uses a combination of traditional medicine and cutting-edge genomic technologies to solve mysterious cases.