Articles tagged with Genetic Testing
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A state-of-the-art molecular genetic test, exome sequencing, has been found to greatly improve the diagnosis of neurogenetic disorders in children and adults. The test can identify disorders that may have gone undiagnosed for years with greater speed and accuracy.
A team led by Professor Fritz Roth found that bakers' yeast can identify harmful genetic mutations more reliably than leading algorithms. By testing the effects of human mutations in yeast, they identified 62% of disease variants as damaging, outperforming computational methods.
A study of over 30,000 women found that genetically elevated maternal body mass index and blood glucose levels are associated with higher offspring birth weight. In contrast, elevated maternal systolic blood pressure is linked to lower birth weight.
Patients with rare disorders are sharing health information through the MyGene2 web tool, which helps researchers and clinicians identify genetic causes. The tool improves diagnosis and treatment options by connecting patients with similar profiles and providing a platform for data analysis.
Researchers linked high C-Reactive Protein levels to increased ischemic stroke risk, identifying gene variations that drive these risks. A new discovery may allow doctors to predict patients' risk of having a second stroke using a commonly performed blood test and their genetic profile.
A clinical study from Mayo Clinic found whole-exome sequencing to be a viable diagnostic approach for identifying rare genetic conditions, resolving diagnostic odysseys and improving patient management. The study reported a success rate of 29%, twice that of conventional genetic evaluations, with insurance coverage existing for the test.
Researchers identified a novel syndrome resulting from multiple genomic lesions in two male siblings with similar phenotypic features. Whole exome sequencing and cytogenetic testing revealed terminal duplications of Chromosome 16q and deletions of Chromosome 5p, which likely contribute to the complex clinical presentation.
Direct-to-consumer genetic testing raises concerns about physicians' preparedness to discuss test results and potential downstream effects on the healthcare system. A study found that only a minority of consumers share their results with their doctor, often due to physician's inability to answer questions and address patient concerns.
A recent study published in Scientific Reports found that consuming dried plums can protect against bone loss caused by ionizing radiation. The researchers tested mice using different interventions and found that dried plum was most effective in reducing the breakdown of bone and preventing spongy bone effects.
Rates of BRCA testing have increased among young women with breast cancer, with 87% reporting testing within a year after diagnosis. The high frequency is attributed to comprehensive genetic counseling services available at cancer centers.
Researchers at Case Western Reserve University have received funding for innovative diagnostic devices targeting three major blood disorders: malaria, cystic fibrosis, and sickle cell anemia. The technologies aim to improve diagnosis speed, accuracy, and accessibility in resource-constrained settings.
The UPMC-developed GlioSeq test provides rapid and accurate profiling of genetic abnormalities in brain tumors, guiding treatment planning. This next-generation sequencing test identifies previously known alterations as well as new molecular markers, enabling personalized management of patients.
Researchers used whole-transcriptome sequencing to screen for blood-borne diseases in wild lemurs and found several strains of parasites similar to those causing Lyme disease. The approach could pave the way for earlier detection of future outbreaks of zoonotic diseases that move between animals and people.
A study found that genes associated with diseases like Alzheimer's, schizophrenia, and autism also impact cognitive functions. Researchers analyzed data from 100,000 people in the UK Biobank to discover shared genetic influences between health and thinking skills.
Recent studies present new data on the myRisk Hereditary Cancer test, highlighting its ability to identify patients with deleterious mutations who may have been missed by traditional genetic testing. The test demonstrated a significant increase in identifying BRCA-related mutations among those tested without BRCA1/2 results.
Researchers at the University of Exeter have created a genetic test to identify young adults at risk of type 1 diabetes. The new tool combines genetic variants to provide a single score, helping doctors diagnose and treat patients more effectively.
A consensus statement by 22 experts rejects the use of genetic testing to spot sporting talent or boost performance in children and young athletes. The limited scientific data on genetics of sports performance is insufficient to support these commercial tests.
A new blood test for prostate cancer significantly improves detection of aggressive cancer, reducing false positives and unnecessary biopsies. The STHLM3 test analyzes protein markers, genetic data, and clinical information to detect cancers in men with low PSA values.
A new blood test has been developed to detect foetal blood group, sex, and genetic conditions in unborn babies with high accuracy. The test is non-invasive and costs a fraction of traditional amniocentesis tests.
QUT scientists have discovered a gene in the Pitjuri plant that allows it to rapidly grow and survive in harsh conditions, including space. This discovery could lead to growing food in space and has implications for future genetic research.
Patients prefer receiving test results through password-protected websites or portals, with non-HIV STI and genetic test results being highly preferred. Only half of participants signed up for available patient portals, highlighting a need for improved doctor-patient communication.
Researchers found that adding a long-acting beta-agonist (LABA) to an inhaled corticosteroid (ICS) did not improve asthma control in black adults, contradicting national treatment recommendations. Genetic variants were also not associated with differential responses to therapy.
A study found that nearly three quarters of doctors surveyed wouldn't refer children with multiple developmental delays to a genetics specialist. This may delay diagnosis and treatment of genetic disorders, which can be treated earlier.
Researchers found that patients whose genomes were sequenced incurred a cost of $719 in follow-up tests and care over the following year, compared to $430 for standard treatment. The study suggests that genome sequencing may offset future costs through prevention or early treatment, but further analysis is needed.
A survey of 282 adolescents aged 12-18 found that most prefer to know secondary genetic findings, even if not medically actionable until adulthood. The main reasons cited were future planning and reducing anxiety, with some respondents expressing concern about introducing stress in their family.
Scientists have created a nematode model using Caenorhabditis elegans to study cardiac arrhythmias. The model uses the nematode's feeding apparatus, which resembles the mammalian heart's muscle cells, to test substances for treating genetic arrhythmias.
A study of commercially insured women found that most did not receive genetic counseling after BRCA testing, with lack of clinician recommendation being the main reason. Women who received counseling had greater knowledge and satisfaction with their test results.
A national study by University of South Florida researchers and Aetna found that only 36.8% of women received genetic counseling before BRCA testing, with Obstetrician/Gynecologists having the lowest rates. Women who received counseling demonstrated greater knowledge and satisfaction.
A new test called ViroCap can detect viruses at low levels and identify variant strains, making it especially useful in situations where diagnosis remains elusive. The test increases sensitivity by 52% compared to standard testing, providing detailed genetic information about viral subtypes.
A new study using competing mice reveals genetic mutations can impair reproduction and territory control, contrary to previous assumptions of redundant gene functions. The mouse barn test provides a sensitive tool for assessing fitness consequences of gene changes in natural environments.
A breakthrough genetic testing method called VirCapSeq-VERT has been developed to detect and sequence viral infections. The platform enables simultaneous testing for hundreds of different viruses and provides near-complete genome sequencing.
Recent advances in genetic testing are providing new insights into pediatric epilepsy, enabling timely diagnosis of potential genetic disorders. This can lead to optimized treatment and reduced costs for families, as well as reduced anxiety associated with unknown cause cases.
The Hastings Center has received a $1.1 million NIH grant to conduct an ethical analysis of next-generation prenatal genetic tests, informing clinical guidelines and policy recommendations. The project aims to identify principles and values guiding the use of these tests, as well as policies needed to support their ethical use.
The European Cardiomyopathy Registry Pilot study found that nearly 60% of patients with arrhythmogenic right ventricular cardiomyopathy received implantable cardioverter-defibrillators, a common yet underutilized treatment strategy. Genetic testing was also widely used, with over half of tests yielding positive results.
A study found that two newer genetic testing technologies can identify genetic mutations potentially linked to autism in children with certain physical anomalies. The findings suggest that medical evaluation of ASD children may help identify populations more likely to achieve a molecular diagnosis.
Babies diagnosed with diabetes are now immediately tested for all 22 genetic causes, reducing referral time from over four years to under two months. This early comprehensive gene testing provides accurate information on clinical features that haven't yet developed, enabling doctors to anticipate and prevent medical problems.
A study found that multigene panel testing identified harmful mutations in moderate-risk genes and Lynch syndrome genes among 3.8% of women negative for BRCA1 and BRCA2 mutations. The test also recommended additional disease-specific screening and prevention measures for mutation-positive cases.
A new genetic test developed at Stanford University School of Medicine can accurately pinpoint the likely genetic causes of heart conditions in just a couple of days. The test uses a streamlined assay that looks at just 88 genes known to carry mutations that cause heart problems, and costs about $100.
A new test developed by UBC researchers allows physicians to measure the effects of gene silencing therapy in Huntington's disease. The test detects small amounts of toxic protein and can be used to follow changes in brain levels over time.
The American College of Medical Genetics and Genomics has released a new 'Scope of Practice' document to clarify the changing role of medical genetics specialists. The document defines the specialty's scope, including genetic consultations, counseling, testing, and education.
A pilot study in Parkinson's disease suggests that remote recruitment and conduct of research visits is feasible and well-received by participants. The study leverages direct-to-consumer genetic testing and telemedicine to diagnose and treat diseases, potentially increasing participation in clinical research and accelerating diagnosis.
Researchers detected four known genetic mutations causing thoracic aortic aneurysms and identified 22 previously unknown variants contributing to the condition. This technology enabled personalized care, including preventive surgery and more frequent imaging tests for patients with high-risk mutations.
A study published in JAMA reveals that noninvasive prenatal testing for fetal chromosome abnormalities can detect underlying conditions in the mother, including cancer. The test analyzes placental and maternal DNA to identify chromosomal abnormalities, but may also reveal undiagnosed cancers in mothers.
A team of Pitt scientists has developed consensus guidelines for thyroid cancer molecular testing to help clinicians make informed decisions about diagnosing the condition. The new guidelines incorporate newly available tests that better incorporate personalized medicine into diagnosing thyroid cancer.
The American Society of Human Genetics recommends genetic testing for children only when results could have an immediate impact on healthcare decisions. Predictive testing is particularly complicated and may affect family relationships and mental health. ASHG advises against direct-to-consumer DNA testing, especially in healthy children.
A new study uses massively parallel gene function assays to characterize nearly 2000 BRCA1 variants, providing a potential solution for sorting out harmful and harmless variants. The approach demonstrates promise but is not yet ready for use in the clinic.
Researchers from the UCL Institute of Child Health and Great Ormond Street Hospital found non-invasive prenatal testing to be highly effective and acceptable to parents. Over 2,500 women underwent NIPT for high and medium risk pregnancies with Down's syndrome, showing a sharp decrease in invasive tests and increased detection rates.
Researchers at the University of Toronto have identified a possible way to predict if an individual is genetically prone to ALS by analyzing DNA repeats in the C9orf72 gene. The study found that a certain number of repeats, when modified with methyl groups, can cause the disease.
A new report recommends that Congress authorize the development of nationally scaled genomic data systems for patient safety, public health, and scientific advancement. The authors argue that existing regulatory resources are insufficient to assure patients of maximal benefits from genomic testing.
While advances in technology have made multigene testing useful in predicting breast cancer risk, clinicians need awareness of its limitations. Recent studies suggest that low-cost genetic testing solutions may cause undue anxiety and stress due to lack of information about many genetic variants.
The Prolaris test helps physicians determine the aggressiveness of prostate cancer, enabling personalized treatment plans. In a clinical validation study, the test showed that at the active surveillance threshold, predicted 10-year survival rates were 97% and risk of mortality was 3%.
Researchers have developed a new assay that simplifies gene sequencing analysis, making it easier and less expensive. This tool can help identify relevant genetic variants associated with FDA-approved drugs or investigational therapies, potentially leading to personalized treatment strategies.
Researchers have developed a method using bacteria to test for pollutants in water and soil, detecting uranium and nitrate pollution. The test can be done overnight for up to 100 samples and is showing promise in predicting oil spills.
A study at Children's Mercy Hospital demonstrates the potential of rapid whole-genome sequencing in diagnosing genetic diseases in critically ill infants. The STAT-Seq test improved diagnosis rates to over half, leading to refined clinical care and improved treatment outcomes.
Researchers at the University of Huddersfield have developed a solution to distinguish between the DNA of identical twins using high-resolution melt curve analysis (HRMA). The technique exploits differences in DNA methylation patterns caused by environmental factors, enabling forensic investigators to accurately identify guilty parties.
A genetic test that can identify desirable and undesirable bee subspecies has been created to improve biosecurity of honey bees worldwide. The test uses 95 genetic mutations that distinguish between African and European honey bees.
The Alana Foundation has awarded $1.7 million to Case Western Reserve University and MIT to advance research on new chemical compounds for treating Down syndrome. The study will test the effects of these compounds on cells involved in cognitive function, aiming to improve cognitive abilities in individuals with the condition.
A genetic test has been developed to identify 'killer' bees, allowing for the safe import of Varroa-resistant honeybees from countries where killer bees are present. This technology is crucial for preventing losses in Australia's $4-6 billion crop industry relying on honeybee pollination.
A study of oncologists in Europe, Asia, and the US found that nearly one in four patients with advanced lung cancer began treatment without knowing their EGFR mutation status. This lack of testing may compromise treatment outcomes and access to effective therapies.
Scientists at TGen discovered the likely cause of severe muscle weakness in six previously undiagnosed children using state-of-the-art genetic technology. The researchers identified pathogenic variants in genes such as CACNA1S, RYR1, COL6A3, and COL6A6, providing new insights into rare myopathies.