Articles tagged with Genetic Testing
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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.
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.
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.
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.
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.
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.
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 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.
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.
A new chemical compound has been developed and tested by scientists at the University of Huddersfield, which attracts vulnerable cancer cells while leaving healthy cells untouched. The compound contains ruthenium and is showing promising results in laboratory tests.
A recent study found that only 8% of disabled or older women who qualified for Medicare received BRCA1 and BRCA2 testing between 2000 and 2014. Women with these mutations are at higher risk for developing second breast cancer and ovarian cancer, making timely testing crucial for informed decision-making.
A new method for screening frogs has been developed by an undergraduate researcher, allowing scientists to detect the deadly pathogen Perkinsea. The test, using qPCR assay, found that 25% of sampled frogs were infected, with the highest prevalence in Gold Head Branch State Park.
Researchers have developed high-tech tools to identify the genetic cause of early childhood seizures, a rare disease that can lead to intellectual impairment and early death. The new approach uses computational tools to analyze genetic data and pinpoint changes in the genome responsible for disease development.
A CU Cancer Center study found that common laboratory tests used to determine ROS1 status in lung cancer have inherent limitations, leading to false-negative results. The study highlights the need for multiple testing methods and secondary analysis to confirm results, particularly for patients with suspicious symptoms or unusual profiles.
A new study has identified specific genes, including BARD1, BRCA1, BRCA2, PALB2, and RAD51D, that are associated with an increased risk for triple-negative breast cancer. The study suggests potential revisions to guidelines for genetic testing and may lead to better prevention strategies.
A new diagnostic test could help distinguish Kawasaki Disease from other conditions, enabling earlier diagnosis and treatment. The test targets a specific pattern of host gene expression in whole blood.
Researchers developed a diagnostic test using needle biopsies to detect malignant hyperthermia, a fatal genetic condition caused by muscle protein mutations. The new test is less invasive and can be performed on children, providing potential early diagnosis.
Scientists have discovered that CRISPR/Cas9 gene editing can cause extensive mutations, including DNA deletions and insertions, leading to major implications for its use in gene therapies. The study highlights the need for specific testing and caution when using CRISPR/Cas9 in therapeutic applications.
Researchers from the University of South Australia have developed a lab-on-a-chip technology that can detect a wide range of fetal genetic abnormalities in early pregnancy. The non-invasive test uses blood samples to isolate fetal cells, providing more information for families and healthcare providers.
A new study found that surgeons have a substantial impact on genetic testing rates among breast cancer patients who need it. High-volume surgeons were more likely to refer patients for testing, while those with lower volumes saw less of a correlation between risk factors and testing rates.
An expert panel found that only one (SCN5A) of the 21 genes typically included on a BrS genetic test has a definitive disease association. The panel disputed the associations with 20 other genes, which could lead to undue harm in patients and family members.
A new study using fruit flies identifies complex gene interactions underlying a common cause of autism. The research reveals that multiple genes interact to modulate variable symptoms, challenging the traditional single-gene approach.
Research found people selectively identify with ethnicities they view as positive while disregarding others. White respondents were more likely to embrace new racial identities if they felt others would still accept them.
A new lab diagnosis guide from IDSA and ASM aims to help healthcare providers accurately diagnose infectious diseases with rapid molecular testing. The guide provides detailed guidance on test selection, specimen collection, and laboratory management to ensure accurate diagnosis and treatment.
Researchers have developed a technique to determine the significance of gene variants of uncertain significance in patients with suspected heart conditions. By using advanced genetic-editing tools and stem cell technology, they were able to confirm that a patient had a mild case of long QT syndrome and rule out another condition.
Researchers found six genes with mutations that substantially increase a person's risk for pancreatic cancer, even in those without family history. The study recommends genetic testing for all pancreatic cancer patients as the new standard of care.
Researchers used whole exome sequencing and whole genome sequencing to detect genetic causes of neonatal death in unexplained cases. The study found a genetic cause in 23% of prospective cohort samples and strong candidates in 18% of retrospective cohort samples.
A rapid test can distinguish infants with a specific genetic change from those without it, allowing tailored prescribing and preventing antibiotic-related deafness. The test uses a cheek swab and can produce results in around 40 minutes.
Cardiovascular expert Robert Myerburg argues that routine electrocardiogram (ECG) screening for asymptomatic adults may not be effective in improving health outcomes due to high false positive rates. For higher-risk patients, he advocates for focusing on treatable risk factors and individualized risk assessment.
A new diagnostic test that uses a simple nasal brush to identify mild to moderate asthma has been developed by Mount Sinai researchers. The test, which uses machine learning algorithms and RNA sequencing, can differentiate asthma from other respiratory conditions and is less expensive than traditional pulmonary function testing.
A randomized, controlled trial found that 77% of patients who received remote phone or video counseling sessions underwent genetic testing, compared to just six percent in the usual care group. The study also highlights the importance of addressing disparities in genetic testing and knowledge among community practice patients.
Researchers have discovered a genetic link between alcohol consumption and heart failure, specifically in individuals with a faulty titin gene. The study found that even moderate amounts of alcohol intake can worsen the condition by reducing heart output in patients with dilated cardiomyopathy caused by the faulty gene.
Next-generation sequencing (NGS) testing for all known lung cancer-related gene changes at diagnosis is more cost-effective and faster than testing one or a limited number of genes. This approach can save up to $2.1 million for Medicare and $250,000 for commercial insurance providers.
A challenge to Canada's Genetic Non-Discrimination Act could lead to widespread genetic discrimination if the law is overturned. The act protects genetic test information from being required in contracts or by employers and insurers.
A study found that multigene testing is more likely to identify disease-associated genetic variants than BRCA-only testing, but may reveal mutations of uncertain clinical significance. The shift reflects a growing acceptance of multigene panel tests as a more clinically useful option for patients and their relatives.
A new diagnostic technique has been successfully tested at the University of Bradford, allowing for the isolation of responses from S-cone photoreceptors. This breakthrough could help in the diagnosis of diseases such as Types 1 and 2 diabetes, glaucoma, and high blood pressure.
A team of scientists has established a pig model of Huntington's disease using genetic engineering technology, offering a practical way to test treatments. The pig model closely matches human symptoms and provides advantages over existing mouse models in terms of size and delivery of treatments.
A new study reveals that mitochondrial disease patients often undergo more than eight physician visits and experience multiple misdiagnoses before being correctly diagnosed. The most common misdiagnosis was for psychiatric disorder, followed by fibromyalgia and chronic fatigue syndrome.