Articles tagged with Genetic Testing
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.
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 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.
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.
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 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.
The Genetic Information Nondiscrimination Act (GINA) created an individual access right to genomic data, but its implementation has been marred by controversy and conflicting regulations. Bioethicists and safety regulators have raised concerns about the misuse of genetic data, while lawmakers argue that GINA solves a non-existent problem.
A new study by MIT professor Catherine Tucker reveals that policies emphasizing patient control of genetic data lead to an increase in the number of tests performed, while those focusing on privacy risks result in a reduction. Researchers found that guarantees about data use had no effect.
A blood-based precision medicine test incorporating age, sex, and gene expression score (ASGES) helped evaluate older outpatients with symptoms of obstructive coronary artery disease. The study found higher incidence of major adverse cardiovascular events in those with high ASGES scores compared to low ASGES scores
Researchers identified an association between a specific SLC6A15 polymorphism and resting-state brain function in multiple brain regions in patients with MDD. The study suggests a potential genetic link to the development of major depressive disorder.
Researchers at Oregon State University found notable differences in the taste of beers malted from two barley varieties, revealing novel flavors that carry through malting and brewing into beer. The study's results have significant implications for the brewing industry, particularly for beer connoisseurs.
A study analyzing BRCA testing trends from 2003 to 2014 found a significant spike in testing following the publication of Angelina Jolie's op-ed on gene testing. The test increased 80-fold, with rural areas showing higher follow-up surgical procedure rates compared to urban areas.
Adolescents display nuanced views on pediatric genetic testing for adult-onset conditions, with approximately half agreeing to defer testing. Students' opinions were influenced by the preventability of the condition, with those focused on early-onset diseases supporting deferral and those on preventable conditions opposing it.
Researchers have discovered a new genetic signature for autism by analyzing the genomes of 516 autistic children and their families. The study found that individuals with autism are more likely to have multiple genetic variations, suggesting a complex interplay between genes in the development of the disorder.
A large-scale Canadian study found that nearly one percent of the population has elevated antibodies indicating celiac disease. Despite a strong genetic link to Caucasians, South Asian individuals were surprisingly affected by a specific genetic variant, suggesting other factors may play a role in who develops the disease.
A genetic test developed by UPMC scientists proved highly sensitive in detecting pancreatic cysts associated with aggressive pancreatic cancer. The test, PancreaSeq°, correctly classified patients with intraductal papillary mucinous neoplasm (IPMN) and identified cysts that would progress to cancer with 100% accuracy.
Researchers used gene therapy to express melanopsin in mouse retinas, restoring visual function and improving pupil constriction. The treatment was effective for up to 15 months, showing enhanced visual responses and light avoidance behaviors.
The partnership between genetic testing companies and orphan drug developers has both positive and negative implications. On the one hand, it can lead to faster diagnosis and treatment of rare diseases. However, there are also concerns over patient privacy and potential price-gouging due to rising healthcare costs.
A new study published in the Journal of the American Medical Association found that genetic testing can help set safe doses of common blood thinner warfarin. The study showed that patients who received warfarin dosing guided by their genetic makeup had a 27% reduction in adverse events, including bleeding and blood clots.
A new polygenic hazard score test combines 31 genetic variants and APOE E4 to predict Alzheimer's risk in cognitively normal older adults, outperforming traditional APOE E4 testing. The test identifies high-risk individuals with early cognitive decline and higher amyloid plaque levels.
Scheme Lab develops a portable DNA sequencing kit for rapid detection of genetic variations in meat quality, seedlings, and plants. The 'point-of-care' test can be used anywhere - in factories, on farms, or at home.
A new study by USC researchers suggests that the TOMM40 gene, neighboring ApoE4 on chromosome 19, has a significant influence on late-life development of dementia and Alzheimer's. The research found that a TOMM40 variant was more influential than ApoE4 in decline of immediate memory.