Articles tagged with Genetic Testing
Comprehensive exploration of living organisms, biological systems, and life processes across all scales from molecules to ecosystems. Encompasses cutting-edge research in biology, genetics, molecular biology, ecology, biochemistry, microbiology, botany, zoology, evolutionary biology, genomics, and biotechnology. Investigates cellular mechanisms, organism development, genetic inheritance, biodiversity conservation, metabolic processes, protein synthesis, DNA sequencing, CRISPR gene editing, stem cell research, and the fundamental principles governing all forms of life on Earth.
Comprehensive medical research, clinical studies, and healthcare sciences focused on disease prevention, diagnosis, and treatment. Encompasses clinical medicine, public health, pharmacology, epidemiology, medical specialties, disease mechanisms, therapeutic interventions, healthcare innovation, precision medicine, telemedicine, medical devices, drug development, clinical trials, patient care, mental health, nutrition science, health policy, and the application of medical science to improve human health, wellbeing, and quality of life across diverse populations.
Comprehensive investigation of human society, behavior, relationships, and social structures through systematic research and analysis. Encompasses psychology, sociology, anthropology, economics, political science, linguistics, education, demography, communications, and social research methodologies. Examines human cognition, social interactions, cultural phenomena, economic systems, political institutions, language and communication, educational processes, population dynamics, and the complex social, cultural, economic, and political forces shaping human societies, communities, and civilizations throughout history and across the contemporary world.
Fundamental study of the non-living natural world, matter, energy, and physical phenomena governing the universe. Encompasses physics, chemistry, earth sciences, atmospheric sciences, oceanography, materials science, and the investigation of physical laws, chemical reactions, geological processes, climate systems, and planetary dynamics. Explores everything from subatomic particles and quantum mechanics to planetary systems and cosmic phenomena, including energy transformations, molecular interactions, elemental properties, weather patterns, tectonic activity, and the fundamental forces and principles underlying the physical nature of reality.
Practical application of scientific knowledge and engineering principles to solve real-world problems and develop innovative technologies. Encompasses all engineering disciplines, technology development, computer science, artificial intelligence, environmental sciences, agriculture, materials applications, energy systems, and industrial innovation. Bridges theoretical research with tangible solutions for infrastructure, manufacturing, computing, communications, transportation, construction, sustainable development, and emerging technologies that advance human capabilities, improve quality of life, and address societal challenges through scientific innovation and technological progress.
Study of the practice, culture, infrastructure, and social dimensions of science itself. Addresses how science is conducted, organized, communicated, and integrated into society. Encompasses research funding mechanisms, scientific publishing systems, peer review processes, academic ethics, science policy, research institutions, scientific collaboration networks, science education, career development, research programs, scientific methods, science communication, and the sociology of scientific discovery. Examines the human, institutional, and cultural aspects of scientific enterprise, knowledge production, and the translation of research into societal benefit.
Comprehensive study of the universe beyond Earth, encompassing celestial objects, cosmic phenomena, and space exploration. Includes astronomy, astrophysics, planetary science, cosmology, space physics, astrobiology, and space technology. Investigates stars, galaxies, planets, moons, asteroids, comets, black holes, nebulae, exoplanets, dark matter, dark energy, cosmic microwave background, stellar evolution, planetary formation, space weather, solar system dynamics, the search for extraterrestrial life, and humanity's efforts to explore, understand, and unlock the mysteries of the cosmos through observation, theory, and space missions.
Comprehensive examination of tools, techniques, methodologies, and approaches used across scientific disciplines to conduct research, collect data, and analyze results. Encompasses experimental procedures, analytical methods, measurement techniques, instrumentation, imaging technologies, spectroscopic methods, laboratory protocols, observational studies, statistical analysis, computational methods, data visualization, quality control, and methodological innovations. Addresses the practical techniques and theoretical frameworks enabling scientists to investigate phenomena, test hypotheses, gather evidence, ensure reproducibility, and generate reliable knowledge through systematic, rigorous investigation across all areas of scientific inquiry.
Study of abstract structures, patterns, quantities, relationships, and logical reasoning through pure and applied mathematical disciplines. Encompasses algebra, calculus, geometry, topology, number theory, analysis, discrete mathematics, mathematical logic, set theory, probability, statistics, and computational mathematics. Investigates mathematical structures, theorems, proofs, algorithms, functions, equations, and the rigorous logical frameworks underlying quantitative reasoning. Provides the foundational language and tools for all scientific fields, enabling precise description of natural phenomena, modeling of complex systems, and the development of technologies across physics, engineering, computer science, economics, and all quantitative sciences.
A new study reveals that mitochondrial disease patients often undergo more than eight physician visits and experience multiple misdiagnoses before being correctly diagnosed. The most common misdiagnosis was for psychiatric disorder, followed by fibromyalgia and chronic fatigue syndrome.
A recent study found that up to 40% of direct-to-consumer genetic tests provide incorrect readings in raw data. The findings highlight the importance of seeking clinical test validation to ensure accurate patient care.
A new study published in PLOS Genetics has identified a mutation in the muskelin 1 gene that causes lethal acrodermatitis, a deadly skin condition in bull terriers. The discovery enables veterinarians to test for the disease and prevent breeding of affected dogs.
Scientists developed a first laboratory test to pick up traces of manatee's genetic material in waterways. The innovative environmental DNA test can reveal whether one or more of the elusive marine mammals has been in the area within the past month.
A new study found that nearly half of women with breast cancer who should undergo genetic testing did not receive it. Genetic counselors were underutilized, with only half of those in the high-risk group receiving counseling before surgery.
The Genomic Ascertainment Cohort (TGAC) will allow researchers to recall genotyped individuals and investigate the influence of their genes and gene variants on phenotypes. The NIH will establish a new database of 10,000 human genomes and exomes, enabling predictions of conditions caused by specific genes or variants.
Researchers at the University of Melbourne identified 24 previously unknown epigenetic changes that alter a woman's risk of breast cancer and can be passed down through generations. These changes, related to DNA methylation, were found in only approximately 20% of women with familial breast cancer who underwent genetic testing.
The Association for Molecular Pathology (AMP) has published consensus-based recommendations for clinical CYP2C19 genotyping allele selection. The guidelines aim to standardize testing across laboratories and improve concordance, enabling better patient care.
Researchers found that patients at risk of inherited heart disease often don't understand the implications of genetic test results, leading to psychological and behavioral changes. This study highlights the need for better communication around cardiac genetic counseling prior to testing.
Researchers have developed a CRISPR-based diagnostic tool called SHERLOCK, which has been enhanced to detect multiple targets at once and show results on a paper strip. The new feature increases sensitivity 100-fold, allowing for the detection of low concentrations of genetic material in samples.
A global survey of genetic testing labs reveals inconsistent protocols for analyzing BRCA genes, which could impact cancer susceptibility. The study calls for global best-practice guidelines to ensure consistency in test results.
A new study from Ohio State University found that women whose family members or friends died of cancer are more likely to approach breast cancer prevention aggressively. Women with traumatic experiences perceive breast cancer as a death sentence, while those with positive experiences see it as a hardship that can be overcome.
The new guidelines update the 2013 recommendations to include genetic alterations driving lung cancer and new drugs to target these alterations. Testing for ROS1 in all cases of lung adenocarcinoma is now recommended, as well as using circulating tumor DNA and cytology specimens when tissue is unavailable.
Researchers at Mayo Clinic developed a new test that can establish which inherited BRCA2 gene mutations increase the risk of breast or ovarian cancer. The study identified 54 pathogenic mutations and expanded the list of neutral mutations, providing better decision-making options for patients with genetic testing results.
A genetic ancestry test more accurately identified patients at risk for bleeding stroke than traditional self-reports of race or ethnicity, according to a new study. The test was particularly effective in identifying four known risk factors for stroke, including diabetes and high blood pressure, in black and Hispanic populations.
A study by UNIGE and UNIL researchers found that individuals with Down syndrome have an excellent genome, better than the average genome of people without the genetic abnormality. This high-quality genome may compensate for the disabilities caused by the extra chromosome 21, enabling some fetuses to reach full term and grow up to old age.
A new mathematical tool, based on Bayes' Theorem, was developed to validate and improve methods for interpreting clinical genetic test results. The tool assessed the rigor of widely-used approaches and found that a system of 18 rules is statistically sound and objectively strong.
A new review examines the quality-of-life consequences of genetic testing and risk-reducing surgery, finding that procedures can decrease cancer anxiety but are associated with short- and long-term complications.
Researchers developed a new approach to detecting the cause of intracerebral hemorrhage (ICH), the deadliest form of stroke. Combining a blood test with a brain scan can accurately spot cerebral amyloid angiopathy (CAA), a condition linked to ICH and increased risk of further strokes and dementia.
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.
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.
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 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.