Articles tagged with Genetic Testing
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.
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.
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.
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.
A recent study found 60 gene variants that affect hemoglobin A1c levels, including one variant unique to African Americans. This variant can reduce the accuracy of A1c blood testing, increasing the risk of underdiagnosis in a population already disproportionately affected by type 2 diabetes.
The Association for Molecular Pathology (AMP) has awarded prestigious honors to Drs. Andrew P. Feinberg, Gregory J. Tsongalis, and Alexis B. Carter for their outstanding contributions to the field of molecular diagnostics. AMP President Federico A. Monzon praised the award recipients for their decades of service to the society.
Two independent mouse studies found that ketogenic diets improved memory in older animals and increased their chances of living longer. The diets also preserved physical fitness and altered insulin signaling pathways in the mice. Further research is needed to fully understand the effects of a ketogenic diet on human health and aging.
Researchers developed a new assay to detect gene fusions in dozens of genes simultaneously, identifying a rare MET fusion in a late-stage lung cancer patient. The patient showed an almost complete response to targeted therapy crizotinib after over 8 months of treatment.
Researchers at the University of Basel developed a rapid test to diagnose Sp110 protein deficiency, a severe immune defect. The test uses flow cytometry to detect the presence of Sp110 protein in patient blood cells, enabling quick diagnosis in hours.
Despite high-risk genetic mutations detectable through simple blood or saliva tests, only 15% of affected women in US have taken recommended genetic test. A new study from UCLA Fielding School of Public Health highlights a significant unmet need for genetic testing across the country.
A new blood test can detect miniscule amounts of cancer DNA released into the blood, allowing for rapid detection of genetic mutations. This test has the potential to be personalized to recognize mutations unique to individual cancers.
A new study published in Neurology found that most newborns with epilepsy (83%) have identifiable genetic causes, which can help guide treatment and connect families with condition-specific support groups. Genetic testing can provide comfort and closure for families, allow for tailored treatment, and improve diagnostic outcomes.
A team of researchers has developed a simplified genetic toolkit to test hypotheses about the neural underpinnings of behavior in animals. The toolbox allows scientists to easily tailor the approach for any purpose and any species, overcoming limitations in traditional model organisms like fruit flies and mice.
A study published in JAMA Pediatrics found that genetic testing is effective in diagnosing epilepsy in 40% of patients and 25% of those with unknown causes. Genetic sequencing tests have a higher diagnostic yield than chromosome microarray, allowing for more precise treatment options.
Researchers developed a new type of sweat test that can overcome the challenge of ambiguous results in current tests. The test identifies alternative molecules found in sweat associated with CF, providing staging and prognostic information.
Researchers found that blocking molecular nerve pruning in mice enhanced manual dexterity and allowed them to grab and eat food faster than wild-type mice. The study identified a protein called PlexA1, which controls the formation of long nerves and fine motor skills.
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.
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.
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.
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...
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.
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 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 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 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 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.