Articles tagged with Genetic Testing
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 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.
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.
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.
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.
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.
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.
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.
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.
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 hybrid chickadees have marked deficiencies in learning and memory compared to their pure species parents. This discovery provides a new mechanism by which hybrids can have low fitness, potentially leading to cascading effects on species apart.
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.
A recent study found that up to 40% of direct-to-consumer genetic tests provide incorrect readings in raw data. The findings highlight the importance of seeking clinical test validation to ensure accurate patient care.
A new study published in PLOS Genetics has identified a mutation in the muskelin 1 gene that causes lethal acrodermatitis, a deadly skin condition in bull terriers. The discovery enables veterinarians to test for the disease and prevent breeding of affected dogs.
Scientists developed a first laboratory test to pick up traces of manatee's genetic material in waterways. The innovative environmental DNA test can reveal whether one or more of the elusive marine mammals has been in the area within the past month.
A new study found that nearly half of women with breast cancer who should undergo genetic testing did not receive it. Genetic counselors were underutilized, with only half of those in the high-risk group receiving counseling before surgery.
The Genomic Ascertainment Cohort (TGAC) will allow researchers to recall genotyped individuals and investigate the influence of their genes and gene variants on phenotypes. The NIH will establish a new database of 10,000 human genomes and exomes, enabling predictions of conditions caused by specific genes or variants.
Researchers at the University of Melbourne identified 24 previously unknown epigenetic changes that alter a woman's risk of breast cancer and can be passed down through generations. These changes, related to DNA methylation, were found in only approximately 20% of women with familial breast cancer who underwent genetic testing.
The Association for Molecular Pathology (AMP) has published consensus-based recommendations for clinical CYP2C19 genotyping allele selection. The guidelines aim to standardize testing across laboratories and improve concordance, enabling better patient care.
Researchers found that patients at risk of inherited heart disease often don't understand the implications of genetic test results, leading to psychological and behavioral changes. This study highlights the need for better communication around cardiac genetic counseling prior to testing.
Researchers have developed a CRISPR-based diagnostic tool called SHERLOCK, which has been enhanced to detect multiple targets at once and show results on a paper strip. The new feature increases sensitivity 100-fold, allowing for the detection of low concentrations of genetic material in samples.
A global survey of genetic testing labs reveals inconsistent protocols for analyzing BRCA genes, which could impact cancer susceptibility. The study calls for global best-practice guidelines to ensure consistency in test results.
A new study from Ohio State University found that women whose family members or friends died of cancer are more likely to approach breast cancer prevention aggressively. Women with traumatic experiences perceive breast cancer as a death sentence, while those with positive experiences see it as a hardship that can be overcome.
The new guidelines update the 2013 recommendations to include genetic alterations driving lung cancer and new drugs to target these alterations. Testing for ROS1 in all cases of lung adenocarcinoma is now recommended, as well as using circulating tumor DNA and cytology specimens when tissue is unavailable.
Researchers at Mayo Clinic developed a new test that can establish which inherited BRCA2 gene mutations increase the risk of breast or ovarian cancer. The study identified 54 pathogenic mutations and expanded the list of neutral mutations, providing better decision-making options for patients with genetic testing results.
A genetic ancestry test more accurately identified patients at risk for bleeding stroke than traditional self-reports of race or ethnicity, according to a new study. The test was particularly effective in identifying four known risk factors for stroke, including diabetes and high blood pressure, in black and Hispanic populations.
A study by UNIGE and UNIL researchers found that individuals with Down syndrome have an excellent genome, better than the average genome of people without the genetic abnormality. This high-quality genome may compensate for the disabilities caused by the extra chromosome 21, enabling some fetuses to reach full term and grow up to old age.
A new mathematical tool, based on Bayes' Theorem, was developed to validate and improve methods for interpreting clinical genetic test results. The tool assessed the rigor of widely-used approaches and found that a system of 18 rules is statistically sound and objectively strong.
A new review examines the quality-of-life consequences of genetic testing and risk-reducing surgery, finding that procedures can decrease cancer anxiety but are associated with short- and long-term complications.
Researchers developed a new approach to detecting the cause of intracerebral hemorrhage (ICH), the deadliest form of stroke. Combining a blood test with a brain scan can accurately spot cerebral amyloid angiopathy (CAA), a condition linked to ICH and increased risk of further strokes and dementia.