Articles tagged with Genetic Testing
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 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.
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.
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.
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.
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 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.
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.
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 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.
Researchers sequenced 141,431 women's genomes using non-invasive prenatal testing data, identifying patterns in ethnic groups' evolutionary history and novel genetic loci linked to height and BMI. The study provides insights into disease risk and epidemiology in Chinese populations.
Researchers analyzed 141,431 genomes from Chinese expectant mothers to discover associations between genes and birth outcomes, including twins and age at first pregnancy. The study also identified genes linked to infectious diseases, height, and body mass index.
According to Dr. Holly Pederson, genetic testing can help identify patients at risk of breast cancer and reduce their chances of survival. The presentation highlights the importance of early screening and advances in cancer genetics, making it possible to save lives through preventive medications and surgical procedures.
A new poll by Michigan Medicine found that over half of older adults (50-64) are interested in DNA testing to guide medical care, understand health risks or know their ancestry. However, two-thirds expressed concern that genetic testing could lead to worrying about future health.
A new model is proposed to generate ongoing automated updates for genetic test results, allowing clinicians to better communicate relevant information to patients. This could enable personalized medicine by providing continuous interaction between clinics and labs, reanalysis of changing data, and more accurate diagnoses.
Researchers found that epigenetic changes in genes related to dopamine neurotransmission are associated with lower IQ test results. The study suggests environmentally-induced gene activity plays a significant role in intelligence.
Researchers have identified four children with inherited mutations in NDUFA6, a building block of complex I, leading to mitochondrial diseases. The discovery paves the way for earlier diagnosis and potential prevention of this devastating condition.
A new study found that nearly half of a patient's first-degree relatives chose to undergo low-cost genetic testing after being contacted by a genetic testing laboratory. This 'cascade' testing helped identify healthy people at risk of cancer, with about 12% of those tested then inviting additional relatives to be tested.
A study published in Science Translational Medicine shows that PGDx's CerebroTM technology can detect tumor-specific mutations with higher sensitivity and positive predictive value compared to existing methods. This improvement is crucial for accurate treatment decisions, particularly for biomarkers like tumor mutation burden.
The NSF's EDGE program awards $10 million to develop genomic tools that can identify mechanisms determining how genes affect organisms' physical and functional characteristics. Researchers will create innovative tools to predict phenotype, contributing to 'Understanding the Rules of Life' and various societal benefits.
The NSF's EDGE program has awarded $10 million to develop genomic tools that will enable researchers to identify mechanisms determining gene function in organisms. This research aims to advance efforts to predict phenotype by developing enhanced genomic tools and infrastructure, contributing to understanding the rules of life.
Scott Juntti, UMD professor, develops genomic tools for testing genes' impact on organism traits in cichlid fish. The goal is to predict an organism's phenotype by understanding the sets of rules that govern genetic variation.