Articles tagged with Genetic Testing
Researchers tested 27 published diagnostic PCR assays and found seven with potential sequence mismatch issues that may lead to underperforming or false-negative COVID-19 test results. This study highlights the importance of re-evaluating current tests periodically to ensure their efficacy in detecting circulating variants of the virus.
Clinical genetics services are struggling to cope with the influx of direct-to-consumer (DTC) genetic testing referrals, with many GPs ill-equipped to interpret results. The lack of resources and funding is exacerbating the issue, with only 10% of DTC test results validated.
A new study suggests that genetic testing for acute myeloid leukemia (AML) can be delayed without negatively impacting patient outcomes. For stable patients, waiting a week or more for test results allows doctors to assign the correct subgroup and select targeted treatment.
A new clinical trial has validated a remote genetic counseling approach, enabling women to assess their cancer risk from the comfort of their own homes. The study showed that skipping personalized counseling did not increase patients' distress and may lead to increased access for genetic testing.
The interface of genomic information with the electronic health record emphasizes the importance of patient autonomy, access, and privacy in integrating genomic data into EHRs. The document provides guidelines on data storage, access, and usage, aiming to optimize benefits while minimizing harm, and recommends standards for interoperab...
A new assay has been developed to improve prenatal detection of alpha-thalassemia, allowing for clinical diagnosis and large-scale population screening. The one-step nested asymmetric PCR melting curve analysis assay shows high sensitivity and specificity, and can be completed in under 2.5 hours.
A new testing system developed by researchers at the University of Chicago can quantify bacteria, antibiotic-resistant genes, and immune molecule levels in sepsis patients, predicting patient outcomes with high accuracy. This innovative approach enables personalized treatment strategies and may improve patient survival rates.
The International Association for the Study of Lung Cancer found that molecular testing rates for lung cancer are less than 50% in most countries. The most frequent barrier to testing was cost, followed by quality/standards and access.
The new peer-reviewed journal Forensic Genomics will document advances in genetic testing and genome sequencing to support human identification. The Journal will accept original research papers and genealogical research on DNA testing technologies, algorithms, artificial intelligence, and genealogical methods.
The American College of Medical Genetics and Genomics has released an updated technical standard for CFTR variant testing, incorporating revised information about cystic fibrosis and the CFTR gene. The new guidelines aim to improve the accuracy and efficiency of genetic screening and diagnosis.
A study analyzing data from the Rhode Island Consortium for Autism Research and Treatment found that only 3% of individuals diagnosed with autism spectrum disorder reported having fully received clinical genetic tests recommended by medical professional societies. The study reveals a dissonance between professional recommendations and ...
A study of nearly 1,300 individuals with ASD found that many receive recommended genetic tests, but factors such as insurance coverage and provider recommendations influence the rates. The findings highlight the importance of personalized approach to genetic testing for individuals with ASD.
Researchers have developed a test to identify lobster hybrids resulting from crossbreeding between European and American lobsters, posing a potential threat to conservation efforts. The study highlights the importance of genetics in distinguishing hybrid lobsters that may spread unwanted genes across native populations.
A recent study found that nearly 1% of the population carry genetic variants substantially increasing CVD and cancer risk. However, relying on family history alone may fail to identify high-risk individuals, highlighting the need for broader genetic testing populations.
A new study found that commercially available genetic tests for determining hemp plant sex may not be accurate, which could increase yields and reduce prices of CBD production. Researchers at Salisbury University tested three primer pairs and found two to be effective in identifying male seedlings.
A new study has investigated the role of pet care in the spread of multidrug-resistant organisms (MDROs) among hospital patients. The research found no significant difference in pet care or closeness of contact to pets between MDRO-positive and MDRO-negative patients, with only a small percentage of pet owners and their pets infected.
A recent study found disease-causing E. coli in recreational waters across Ireland, including those rated excellent under EU criteria. The research highlights the limitations of current water quality assessments, which only consider total E. coli counts without accounting for pathogenic variants.
A new high-resolution melting analysis-based test (HRM) has been developed to improve the diagnosis of recurrent pregnancy loss (RPL), a condition affecting approximately five percent of women. The test is accurate, rapid, and cost-effective, offering better value than current genetic testing methods.
A new genome editing system has been developed to enhance the efficiency of an error-free DNA repair pathway, which could help improve agronomic traits in multiple crops. The system uses Cas9 and VirD2 to facilitate homology-directed repair, increasing the rate of precise genetic modifications.
A clinical trial using genetic testing to guide antiplatelet medication found a 34% reduction in serious cardiovascular events at one year, as well as a significant decrease in the number of events per patient. This finding suggests that genetically guided therapy may be beneficial for patients with specific genetic variants.
A study on the parasitic lancet fluke Dicrocoelium dendriticum found that genetically identical brain flukes are often present in both ant brains and abdomens, suggesting kin selection plays a key role in its evolution. This manipulation of host behavior supports an altruistic strategy, where clonemates are cotransmitted into ants.
A study by Mayo Clinic researchers suggests that all women with a breast cancer diagnosis under the age of 66 be offered germline genetic testing. This approach would identify 98% of women with BRCA1 and BRCA2 mutations, while avoiding testing of 20% of all breast cancers.
The Roberts Individualized Medical Genetics Center at Children's Hospital of Philadelphia has developed a centralized genetic testing model that has improved diagnosis and patient outcomes. The center's success highlights the importance of standardizing genetic testing across different clinical disciplines.
The Clinic for Special Children's SMA Prevention Readiness program successfully identified 318 carriers and 9 affected couples, treating 3 infants with gene therapy. The program's cascade testing approach was effective in detecting genetic risk, leveraging funding from biotech company AveXis.
A study published in the Journal of the American Medical Association found that genetic tests for heart disease risk had only modest improvement over conventional testing. The test analyzed thousands of genetic variants linked to heart health but did not significantly enhance predictive power.
Researchers resurrected Wrangel Island mammoth's mutated genes to test their functionality. They found the genes did not function normally, suggesting the last mammoths were genetically unhealthy and unable to smell, providing a cautionary tale for endangered species.
A new test developed by a German Center for Infection Research team allows for quick characterization of the genetic material of ebolaviruses, enabling specific diagnostic tests and efficient outbreak control measures. This breakthrough could help reduce the number of lives lost to Ebola outbreaks.
A new study found that breast cancer treatment among women who test positive for an inherited genetic mutation is less in line with practice guidelines, particularly for radiation therapy and chemotherapy. The researchers found distinct differences in surgery, radiation, and chemotherapy treatments among BRCA-positive patients.
A new single-cell prenatal blood test can identify genetic abnormalities in fetuses with high accuracy, improving the likelihood of detection. The test uses a modified droplet digital PCR assay that assesses DNA from live cells without cell fixation or whole-genome amplification.
At-home genetic ancestry tests may decrease beliefs in racial essentialism among those with higher genetic knowledge, but increase them among those with lower genetic knowledge. The study suggests that people's understanding of genetics influences the impact of ancestry testing and polarizes test-takers' views on racial essentialism.
A new study from University of Pennsylvania sociologist Wendy Roth found that DIY DNA tests do not lead to a greater belief in racial essentialism. However, those who understand more about genetics going in become more skeptical, while those with less understanding believe in essentialism more strongly.
A study examined racial and ethnic differences in genetic testing frequency and results among diverse young breast cancer patients. The study found that less than half of the participants completed hereditary breast and ovarian cancer genetic testing, but the percentage increased over time.
A ClinGen panel validated three genes associated with long QT syndrome, disputing nine other genes linked to the condition. The study highlights the need for critical evaluation of gene-disease associations to prevent patient harm.
A blood test using eight gene signatures can predict the onset of tuberculosis three to six months before symptoms appear. This finding could help target antibiotics and save lives, particularly by identifying individuals at risk of developing TB disease after being infected with the bacteria.
Researchers used genetic testing to identify a common genetic factor among affected families, revealing a homozygous multiexon duplication in RYR2 gene. Genetic testing confirmed the same gene duplication in two unrelated Amish families, allowing for potential lifesaving premarital counseling and reproductive planning
A study published in JAMA Cardiology found that a person's BMI measurement from 25 years ago is a better predictor of their current BMI than a polygenic risk score. The researchers analyzed data from over 2,500 young adults and found that baseline BMI explained 52.3% of BMI variation over time.
Researchers found that people with one mutated copy of the cystic fibrosis gene, known as CF carriers, are at higher risk for various CF-related conditions, including pancreatitis and type 1 diabetes. The study's results suggest a substantial burden of illness from these conditions, impacting over 10 million Americans.
A recent study found that clinical whole exome sequencing at major commercial labs inadequately analyzes more than a quarter of genes, affecting the accuracy of genetic disorder diagnoses. The reanalysis revealed stark inconsistencies in gene coverage across different labs, with some testing only 34% of genes.
Researchers analyzed 2,467 patients with hypertrophic cardiomyopathy, finding racial disparities in symptom severity, healthcare access, and treatment outcomes. The study suggests that race plays a significant role in shaping the disease's impact on patients.
Researchers have mapped 373,869 genes in commercial sugarcane, achieving 99.1% genome coverage. This feat will facilitate genetic improvement of the world's largest crop to increase efficiency and productivity.
A new study reveals that male breast cancer patients require a lower recurrence score threshold for predicting mortality compared to females, highlighting distinct biology and prognostic factors between the sexes.
Researchers identified rare DNA variants in 1% of asymptomatic adults that substantially increase risk of sudden cardiac death. Genetic sequencing may enable new opportunities to identify high-risk individuals prior to any symptoms.
A new study reveals that chromosomal abnormalities in couples with recurrent miscarriage can be detected using low-pass genome sequencing, increasing the number of couples identified at risk. This technique may help couples conceive through in vitro fertilization and personalize their treatment.
Direct-to-consumer genetic tests may report false positive and false negative results, and interpretation is complex and context-dependent. Experts advise doctors to put results in context for patients, discussing possible sources of error and lifestyle changes.
Researchers found that serum neurofilament levels are significantly higher in patients with frontotemporal dementia than those with psychiatric disorders. This biomarker shows promise for differential diagnosis and prognostication of the disease.
A new breeding method uses genetic profiles to predict disease resistance in beans, speeding up the process and reducing pesticide use. The method has been applied to 316 varieties of beans and shows promise for increasing crop yields and improving food security in Africa and Latin America.
A study supports genetic testing for all metastatic breast cancer patients to identify additional patients with increased risk of certain mutations. This strategy may also help determine response to targeted therapies such as PARP inhibitors for HER2/ERBB2 negative breast cancer.
A recent study found that fewer than 4% of relatives receive information on family screening that could prevent further deaths. Early systematic investigations are crucial to understanding the underlying cause of sudden cardiac arrest, but often lack core testing such as CT scans and echocardiography.
Researchers at Brown University developed a simple method to isolate trophoblast cells from cervical swabs, which carry the complete fetal genome. This technique enables less invasive diagnosis of genetic disorders in developing fetuses, increasing the proportion of trophoblasts by 700%.
VTT scientists developed a genetic test to detect diastatic yeasts, which cause off-flavours, increased alcohol, and over-carbonation. The new method differentiates between problematic and harmless strains, offering breweries savings in time and cost.
New USPSTF recommendations for BRCA1/2 genetic testing are beneficial, increasing use of genetic counseling and testing for those with high risk. However, concerns remain about large-panel genetic tests, direct-to-consumer multi-panel tests, and racial and socioeconomic disparities in genetic testing uptake.
Researchers found EV RNA in CSF of 4 out of 567 total confirmed AFM cases, but significantly higher antibodies to EV peptides in 11 of 14 AFM patients. The study suggests enterovirus infection as a cause for acute flaccid myelitis (AFM) in children.
FutureNeuro researchers integrated genomics data into the Irish National Epilepsy Electronic Patient Record system, enabling personalized treatment plans for individuals with unknown cause epilepsy. The new system facilitates multidisciplinary meetings and review of genomic test results to determine genetic causes, leading to better di...
Researchers discovered 43 specific genetic mutations required for leukemia development in children with Down syndrome. The study identified additional genetic changes transforming preleukaemic cells into leukaemic ones.
Researchers create a genetic map of three vegetables, revealing new insights into their origins and potential for improvement. By tracing the evolutionary history of canola, rutabaga, and Siberian kale, scientists identify genes that could lead to more nutritious and resilient crops.
A new special report by The Hastings Center examines the psychosocial impacts of genetic information, highlighting both potential harms and limitations. Studies suggest that genetic testing can have negative effects on individuals and families, particularly in contexts where stigmatization or anxiety is heightened.
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.