Articles tagged with Genetic Testing
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.
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.
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 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 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 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.
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.
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 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.
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.
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 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%.
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.
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.
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.
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 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.
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 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.
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 study found that 94% of patients who underwent embryo genetic testing before IVF were glad to have the information, despite potentially disappointing results. The research suggests that even after a negative outcome, most women value the knowledge gained from embryo testing for reproductive planning.
A new non-invasive prenatal test has been developed to diagnose sickle cell disease in unborn babies. The test uses cell-free fetal DNA and has shown promising results, with successful diagnoses achieved in 21 out of 24 pregnancies. Further development and validation are needed before the test can be introduced into clinical practice.
Broad-spectrum genomic testing can identify genetic markers that respond to targeted therapies for specific cancer-causing mutations. This technology has connected patients with life-saving clinical trials and medications.
A new research study uses polygenic risk scores to predict heart disease risk in French Canadians, with high accuracy and sensitivity, similar to other populations. The score can identify individuals at high risk for cardiac disease, allowing for early detection and effective therapeutic interventions.
New guidelines recommend nucleic-acid amplification tests (NAAT) for diagnosing Clostridioides difficile infection. NAAT testing practices are considered the most effective, with a recommended algorithm combining GDH/TOXIN/NAAT tests.
A survey of community oncologists found significant knowledge gaps in using genetic testing to decide cancer treatment. Researchers urge immediate education on molecular profiling to direct targeted therapies.
A new study reveals that up to 90% of individuals at risk for Huntington's disease choose not to take a gene test, primarily due to uncertainty about treatment options and the inability to undo the knowledge. The study suggests that supportive counseling is necessary to help these individuals make informed decisions.
Researchers at the University of Cambridge have developed a new test that can reliably predict the future course of inflammatory bowel disease in individuals. The accuracy of the test is comparable to similar biomarkers used in cancer, with an accuracy rate of 90-100% in correctly identifying patients who do not require multiple treatm...
Researchers used genetic maps to identify genes controlling fiber length in Sealand cultivars, which improved fiber quality while maintaining or increasing yields. This breakthrough could help breeders overcome the yield vs quality challenge in cotton breeding.
TeraPCA, a new tool developed by Purdue University researchers, is designed to analyze large genetic datasets more efficiently. By making approximations of top principal components and leveraging multithreading, TeraPCA can process data in five or six hours compared to two days with existing methods.
A study found that poor sense of smell is associated with a 46% higher mortality rate at year 10 and 30% higher mortality rate at year 13 compared to those with good olfaction. The association could not be explained by demographic characteristics, lifestyle, or comorbid conditions.
A new genetic test, known as the Obesity Genome-wide Polygenic Score (GPS), has been developed to predict an individual's risk of developing severe obesity. The test uses a genetic score based on over 2 million variations in a person's genetic code and shows high predictive power.
A new UCL-led study investigates three genetic markers that influence cannabis addiction. Researchers found differences in cognitive mechanisms and identified a specific gene associated with increased craving and attraction to cannabis-related imagery.
The article discusses the potential of liquid biopsy in cancer diagnosis, focusing on targeted disease diagnosis and detection of cancer biomarkers. Researchers have successfully detected specific genetic mutations using digital PCR, identifying promising biomarkers for various cancers, including melanoma and lung squamous cell carcinoma.
A recent study found that fewer than a quarter of breast cancer patients and a third of ovarian cancer patients underwent genetic testing for cancer-associated mutations. The research, which analyzed data from over 83,000 women diagnosed with breast or ovarian cancer in California and Georgia between 2013 and 2014, revealed substantial...
A Vanderbilt University Medical Center research team successfully developed a protective antibody-based treatment against the Zika virus, completing the challenge in just 12 days. The breakthrough could pave the way for rapid deployment of treatments to prevent outbreaks and pandemics worldwide.
EpiSign analyzes DNA methylation patterns to diagnose or resolve variants of uncertain significance in patients with genetic disorders and congenital anomalies. The test has identified unique epigenetic signatures for 19 genetic disorders, including those associated with intellectual disability and congenital anomalies.
A new computational model facilitates diagnosis of previously unsolved cases of neurodevelopmental and congenital abnormalities by examining DNA methylation. The test resolved dozens of new cases, providing a specific diagnosis that can help predict the course of the disease.
The revised guidelines address pharmacogenetics, diagnosis of mental disorders with new molecular genetic technologies, and ethical challenges of genetic testing in psychiatric patients. Key findings include a lack of consensus on CNV testing in adults with mental illness and the need for more research to identify relevant genes.
Researchers developed a simple and inexpensive way to measure C-peptide, allowing clinicians to accurately diagnose type of diabetes and tailor treatment. The test has been used on over 750 patients with Type 1 diabetes diagnosis and shown that some have other types of diabetes, enabling them to stop insulin treatment.