Articles tagged with Genetic Testing
Researchers discovered a single nucleotide polymorphism in the hepcidin promoter gene associated with increased susceptibility to extrapulmonary tuberculosis. This genetic variation leads to decreased hepcidin production, impairing macrophage function and allowing M. tuberculosis to spread to other areas of the body.
Researchers have developed a new class of NanoVelcro microchips that can capture and analyze rare circulating fetal cells in a mother's blood. This technology has the potential to noninvasively diagnose prenatal conditions, reducing the risk of miscarriage and harm to the fetus.
A new era in human genomic variation interpretation is underway, driven by the need for standardized and accurate clinical care. Data sharing has become increasingly important, with payers requiring labs that share data to be reimbursed.
Researchers at QUT have developed a new, genetically modified banana rich in pro-vitamin A, a crucial nutrient for fighting vitamin A deficiency. The project aims to improve the nutritional content of bananas in Uganda, where they are a staple food and lack essential micronutrients.
A molecular diagnostic test has received FDA approval for accurately distinguishing among the three most common causes of vaginitis. The test is more sensitive, faster, and objective than traditional methods, providing detailed diagnoses that can help determine the best course of treatment.
Researchers found that genetic testing can pick out men at increased risk of testicular cancer, who may benefit from monitoring or preventative treatment. Testing identified 1% of men at highest risk, with a 7% lifetime risk of developing the disease.
A new study found that genetic variants on chromosome 3 are associated with better performance on the 'Reading the Mind in the Eyes' Test, which measures cognitive empathy. Women tend to score higher than men, and variations in the gene LRRN1 are linked to increased volume of the brain region involved in this skill.
A new blood test has been identified to predict the onset and track the progression of Huntington's disease. The test measures neurofilament levels in the blood, which increase throughout the course of the disease, even in carriers of the genetic mutation.
A study found that only 9% of patients with Acute Myeloid Leukemia (AML) received the recommended seven genetic tests, highlighting a significant gap in adherence to guidelines. The CONNECT registry data also showed varying rates of compliance among different patient groups, including age and insurance status.
Researchers found that raising the age limit for Lynch syndrome genetic testing can detect new affected families who would not have been identified previously. This can lead to a reduction in deaths from the disease by over 60% over 15 years.
The UK's two-tier system balances individual concerns about genetic discrimination with insurer needs, while Australia and Canada face challenges in regulating insurers' use of genetic information. A comparative study found that the UK's moratorium on predictive genetic test results for life insurance policies below £500,000 helps main...
Scientists at UCLA developed a laboratory test to determine the most effective treatment for gonorrhea. The new test led to a significant increase in the use of ciprofloxacin, from 0% to 34%, while reducing the use of ceftriaxone from 100% to 66%. This shift may help slow down the emergence of antibiotic resistance.
MU researchers have found a biomarker test that helps diagnose ALS also assists with determining a diagnosis for degenerative myelopathy. The study used phosphorylated neurofilament heavy proteins released into spinal fluid and blood to develop the diagnostic tool.
A recent study has identified genetic mutations in 14 genes as the primary cause of childhood overgrowth syndromes, which are characterized by excessive growth and intellectual disability. The researchers found that these genes play a crucial role in epigenetic regulation, controlling how and when other genes are expressed.
Scientists successfully completed the first EPA-approved outdoor field trial for genetically engineered algae, testing a strain in real-world conditions without adverse impact on native populations. The study demonstrates the feasibility of cultivating genetically engineered algae outdoors while maintaining engineered traits.
The new blood test can accurately and quickly identify genetic mutations associated with NSCLC, allowing clinicians to make earlier, individualized treatment choices. The test showed high sensitivity and specificity for detecting each type of mutation, and results were available within 72 hours.
A recent survey found that half of women with breast cancer who undergo genetic testing do not have high-risk mutations. This highlights the need for genetic counselors to help patients and physicians understand genetic test results. Many physicians surveyed in the study stated they manage patients with uncertain significance in the sa...
A new study examines how well biobank donor families understand the risk and implications of a potential confidentiality breach. Families who donate tissue are often willing to trade access to research results for absolute confidentiality.
Researchers developed an epigenetic clock to predict biological age in mice, measuring the effects of genetic and dietary factors. The tool allows for faster and larger-scale studies on aging interventions, potentially leading to new ways to extend human lifespan.
Researchers found two new mutations on the PPX2 gene responsible for PPO-inhibiting herbicide resistance in Palmer amaranth. The glycine 210 deletion and R98 region mutations confer resistance to multiple herbicides, with some plants carrying both mutations.
Researchers discuss the challenges of understanding genomic data, including incidental findings and false-positive results. The authors highlight the need for informed patient preferences, risk assessment, and knowledge of compensating variants to navigate these complexities.
Researchers have developed two new blood tests that can reliably detect previously unidentifiable forms of melanoma, a type of aggressive skin cancer. The tests use DNA fragments in the blood to monitor tumor growth and can detect changes in genes that help cancer cells multiply.
Researchers found that over 60% of BRCA tests performed on unaffected women have increased since 2004, mainly driven by marketing efforts. However, study findings suggest that this trend may not lead to better diagnosis of those at risk, as many women without harmful mutations are still being tested.
A new study found that the proportion of women without a history of cancer who underwent BRCA testing rose sharply from 2004 to 2014. However, many high-risk patients remain unidentified, highlighting the need for effective testing strategies to maximize detection of mutation carriers.
A new study reveals that mice handled by a 'mouse-friendly' tunnel exhibit more active exploration during cognitive tests compared to those picked up by the tail. This non-aversive handling method can improve test performance, save time, and enhance research reliability.
A study by Brigham and Women's Hospital investigators found that 55 out of 270 genetic loci associated with seven autoimmune diseases could be mapped back to causal genes using eQTLs in immune cells. However, this only accounts for a small fraction of the genetic loci examined.
Researchers at the University of Helsinki have identified a novel gene associated with acute respiratory distress syndrome (ARDS) in Dalmatian dogs. The gene study found that the disorder results from a defect in an anillin protein which binds to actin, leading to abnormal regeneration capacity of the bronchiolar epithelium.
A study of over 2,500 women with newly diagnosed breast cancer revealed a significant gap between the need for genetic testing and its availability. High-risk patients, particularly those from Asian backgrounds and older women, were under-tested due to lack of physician recommendation and inadequate assessment of patient risk and desire.
A study found that many high-risk breast cancer patients are not recommended for genetic testing, despite being interested in it. The lack of testing puts doctors at risk of missing opportunities to prevent cancers in mutation carriers and their family members.
A new program, Early Check, offers free genetic testing for up to 120,000 families annually, aiming to improve health outcomes and scientific knowledge. The testing can help detect conditions like spinal muscular atrophy and fragile X syndrome, providing peace of mind for parents while also enabling research on potential treatments.
Researchers developed a new genetic-testing method to identify the invasive coconut rhinoceros beetle, which can be conducted in just a few hours. This test offers potential for improved defense against the species and prevents misidentification that could lead to wasted resources.
Researchers found that fetal genomic sequencing increased the detection rate of genetic findings by 10-30% in women with pregnancies complicated by major fetal congenital anomalies. The study also revealed new associations with genes and intolerant OMIM disease-associated mutations, improving patient counseling and neonatal treatment.
Researchers created genetically modified fruit flies containing reconstructed ancient genes to study the evolutionary effects of genetic changes. They found that the accepted wisdom about the molecular causes of the flies' evolution is incorrect, challenging a classic example of adaptation.
A University of Michigan study found that less than 2% of customers regret receiving genetic health data and only about 1% are harmed by the results. The majority of participants were interested in ancestry information, with 74% wanting to know their ancestral origins.
The American College of Medical Genetics and Genomics advocates for extensive sharing of genomic data to improve patient care. Responsible data sharing will provide critical information for clinical laboratories and treating physicians, leading to advancements in personalized medicine.
Scientists at SISSA have developed a method to stimulate genes to work twice as hard to compensate for missing genes, potentially treating diseases like Rett's syndrome by leveraging the gene's natural endogenous regulation
A new study comparing two genetic sequencing tests found that results can differ significantly in the same patients, with only 22% of detected alterations matching between platforms. The findings have significant clinical implications, highlighting the need for more detailed comparisons of test results across larger patient populations.
US women saw a sharp increase in breast cancer gene testing after Angelina Jolie's article, with daily rates rising 64% immediately. However, there was no change in overall mastectomy rates, suggesting that celebrity endorsements may not effectively target high-risk groups.
A study found a 64% spike in genetic tests for breast cancer following Angelina Jolie's op-ed piece, but no uptick in mastectomy rates. The tests did not lead to additional breast cancer diagnoses, suggesting overtesting among low-risk groups.
A large-scale prospective study has generated new insights into patient perceptions and experiences with direct-to-consumer genetic testing. Despite modest cancer risks, most customers did not change their diet, exercise, or screening habits. However, men who received elevated prostate cancer risk estimates changed their supplement use...
A new study at SABCS finds EndoPredict, a second-generation test, superior to Oncotype Dx in predicting breast cancer recurrence. The test accurately identified patients with low risk of recurrence, allowing them to forgo chemotherapy.
Researchers developed DECoN, a free, fast tool that detects exon copy number variants, which are hard to pick up by standard DNA sequencing tests. This allows for more efficient and effective gene testing, making it potentially life-saving.
Researchers developed a novel urine test to predict high-risk cervical cancer with 90.9% accuracy using genetic markers from HPV and human cells. The test shows promise as a cost-effective alternative to existing methods, which may be unnecessary in up to 50% of cases.
Researchers found that a gene deletion poses a threat to malaria eradication efforts in the Democratic Republic of Congo. The study revealed that one in every 15 infected children has a false-negative result when using rapid diagnostic tests.
A non-invasive test measuring odor recognition and recall can identify older individuals at increased risk of Alzheimer's disease. The study found that participants with poor performance in the test were more likely to have a variant of the APOE gene associated with increased Alzheimer's risk.
The WSU study reveals a non-invasive testing method, Trophoblast Retrieval and Isolation from the Cervix (TRIC), that offers accuracy similar to invasive tests like amniocentesis. TRIC can be performed five to 10 weeks earlier than current testing modalities and has the potential to identify pregnancies at risk for complications.
Researchers have developed a new metabolomics-based screening approach that can identify multiple different inborn errors of metabolism (IEMs) in a single urine sample. This method has the potential to detect numerous IEMs, which were previously detected in various bodily fluids such as blood and cerebrospinal fluid.
A new review suggests that testing for inherited thrombophilia is often unnecessary and can be costly. Experts argue that hospital patients who have already had dangerous clots don't need the test to justify medication and preventive measures, and there's no evidence it helps prevent future clots.
A genetic testing error led to the misdiagnosis of long QT syndrome in over 20 family members, resulting in one tragic death. The case highlights the importance of accurate interpretation and careful use of genetic testing to avoid such mistakes.
A new genetic testing method, LipidSeq, has been developed to identify a genetic basis for high-cholesterol in almost 70% of targeted patient populations. The method uses next-generation sequencing technology to pinpoint specific areas of a person's DNA and provides a more cost-effective way to diagnose genetic forms of high-cholesterol.
Parents of children with cancer find whole exome sequencing useful for understanding the cause of their child's cancer, relieving guilt and providing reassurance for other family members. The study also highlights the importance of considering broader benefits beyond clinical actionability when deciding to disclose genetic information.
A recent study reveals that blood-based genomic and proteomic testing can rapidly identify genetic mutations in patients with lung cancer, enabling personalized treatment. This approach significantly reduces the wait period between diagnosis and treatment, improving patient outcomes.
Researchers discovered a genetic link between high tryptase levels, multiple copies of the alpha tryptase gene, and a range of symptoms including dizziness, skin flushing, and gastrointestinal issues. The study provides new insights into the cause of this frustrating syndrome and potential strategies for diagnosis and treatment.
Researchers have created a new library of human stem cells with different levels of admixed European, African and Native American genomic ancestry. The cell lines can be used to test drug toxicity and study differential drug response.
A study published in JAMA found that postmortem genetic testing can identify the likely genetic cause of death in cases where it was not determined. The analysis sequenced DNA from deceased individuals and their relatives, discovering mutations linked to sudden cardiac death, pulmonary embolism, and other conditions.
A new study suggests health-care providers support routine testing of colorectal tumors to identify individuals with Lynch Syndrome. However, there is a lack of consensus on whether patients should be allowed to opt out of the test, which could determine their risk of developing cancer.
The Generation Study will enroll over 1,300 cognitively healthy older adults at high risk of developing Alzheimer's due to inherited APOE gene mutations. Researchers will test two investigational treatments: an active immunotherapy and an oral medication to stop amyloid accumulation.
Researchers have linked a neurodevelopmental disorder to a mutation in the SON gene, which plays a crucial role in essential cellular processes. The discovery provides a new diagnostic tool and offers potential treatment options for patients with this condition.
A Harvard Medical School study reveals genetic tests may have disproportionately misdiagnosed hypertrophic cardiomyopathy in black Americans due to racially biased methodologies. The findings highlight the importance of using diverse control populations to ensure accurate test results.
After decades of research, scientists have made significant progress in understanding and treating PCOS, identifying potential biomarkers and developing new diagnostic tests. The review highlights innovative approaches, including genetic testing and hormone analysis, to improve early treatment strategies and prevent long-term complicat...