Articles tagged with Genetic Testing
A multidisciplinary faculty group at Tufts University School of Medicine recommends a strategic approach to teaching personalized genomic testing in medical school curricula. The group emphasizes the need for responsible use and privacy protection when introducing personal genotypes into education.
Researchers at Duke University Medical Center found that genetic sequencing is insufficient to understand human disease, highlighting the need for functional tests. The study used a suite of diseases called ciliopathies, which can cause various traits in patients.
A Wayne State University study successfully classified over three-quarters of healthy older adults at risk for cognitive decline within 18 months. The combination of a genetic blood test and a five-minute functional MRI proved to be the most effective predictor.
A new genetic blood test predicts IVF success by identifying the FMR1 gene subtype, with different subtypes associated with varying pregnancy rates. The test also suggests a link between autoimmunity and infertility, potentially informing fertility planning.
Scientists from deCODE genetics and academic colleagues report discovering genetic markers that impact individual baseline levels of prostate-specific antigen (PSA). Analyzing four SNPs in tandem with genetic risk factors detected by the deCODE ProstateCancer test yields substantial improvement in PSA screening efficacy.
Research published in Annals of the Rheumatic Diseases found that smoking is a major preventable risk factor for rheumatoid arthritis, accounting for over 35% of ACPA positive cases and one in five cases overall. Heavy smokers are more than 2.5 times as likely to test positive for ACPA.
HER2 test results can vary in up to 10% of patients when multiple tumor blocks are analyzed, according to Mayo Clinic researchers. This variability has significant implications for patient treatment and highlights the need for additional testing.
Researchers are creating a new rapid test to detect sexually transmitted infections (STIs) in under 15 minutes. The system uses short fluorescently-labelled DNA sequences to identify the presence of an STI.
A novel test has been developed to accurately diagnose Turner syndrome in girls, allowing for timely management of co-morbid conditions. The new test can be performed on cheek swabs or newborn screening blood spots and has shown a high accuracy rate in detecting the disorder.
A UNC-led research team developed a searchable database of more than 200 commonly used antibodies to help genetic scientists precisely test DNA. The database addresses the issue of specificity in antibody tests, which can affect gene regulation and human diseases.
A recent survey of DTC genetic testing customers reveals their motivations, attitudes, and responses to testing. The study found that early adopters are generally satisfied with services, citing curiosity, risk assessment, and ancestry as top reasons for purchasing tests.
The Ontario Genomics Institute is investing in ArcticDx's Macula Risk test, which detects genetic variations predicting AMD progression. The test may help target effective care to those who need it most and relieve uncertainty for others.
A study by Dr. David Lohman suggests the Philippines could have more unique bird species due to its high biodiversity and geographic isolation. This could have significant implications for conservation efforts in the country.
A genetic test predicting early menopause risk could help UK women in their 30s plan families. Researchers identified four genes associated with early menopause and found they combined to have a larger impact on the condition.
A study explores the experiences of parents whose children have undiagnosed learning disorders, developmental deficits, and congenital abnormalities. The researchers identify frustration as a common theme, adding complexity to the parenting journey. The findings highlight the need for support and understanding for these families.
A team of bioethical, legal and medical researchers proposes an innovative approach to oversee direct-to-consumer genetic tests, combining premarket studies with ongoing postmarket evaluations. The approach aims to balance innovation with regulation, ensuring safety and accuracy for consumers.
Genetic tests are increasingly being offered directly to consumers in Puerto Rico, leading to higher awareness levels compared to previous U.S. population-based studies. However, the actual use of these tests is lower than expected, affecting specific groups such as smokers.
Two LSU research groups investigate the impact of oil and dispersants on the Louisiana salt marsh ecosystem and genetic structure of wildlife populations. The studies aim to understand short- and long-term effects of chemicals on natural systems.
A series of essays examines the challenges in determining effective treatments, benefits and drawbacks for patients, as well as consumers' right to their genetic information. The articles discuss controversies surrounding direct-to-consumer tests, genetically customized drug treatments and biospecimen use.
The USDA has sequenced the cacao genome, accelerating genetic improvement of the crop to resist pests and diseases, improve yields, and support sustainable agriculture. This achievement will benefit the $17 billion US chocolate industry and millions of small farmers worldwide.
Women with a family history of breast or ovarian cancer can benefit from prophylactic surgeries to remove ovaries, fallopian tubes, or breasts, increasing survival rates and eliminating risk. Genetic testing is crucial for identifying the BRCA1 and BRCA2 genes, which significantly increase cancer risk.
A study found ticagrelor to be more effective than clopidogrel in preventing blood clots, regardless of genetic variations. This means patients with acute coronary syndromes can use ticagrelor instead of clopidogrel, eliminating the need for genetic testing.
A new report highlights concerns about home genetic tests making exaggerated claims to consumers. Medical professionals argue that individuals should be protected from misinterpretation of complex genomic data. Experts call for a balance between public access and responsible marketing practices.
A University of East Anglia study found that female birds in the Seychelles warbler species prefer extra-pair fertilizations, which increase genetic diversity and disease resistance in offspring. This results in longer lifespan for those individuals.
Researchers found a significant link between African ancestry and pulmonary measurement in both men and women across all ages. Accounting for genetic ancestry improves prediction of normal lung function over a simple race-based classification, potentially leading to reclassification of severity in many lung diseases.
Researchers found a group of seven genes that significantly impact platelet clumping, offering new targets for developing diagnostic tests and treatments for arterial disease. The study used data from two large studies to identify the genetic factors behind blood clotting, providing insights into promoting healing and stalling disease ...
A recent White Paper report by the American Society of Human Genetics (ASHG) highlights issues with genetic ancestry testing, including imprecise definitions and lack of standard guidelines. The task force recommends a collaborative approach among stakeholders to address concerns and develop best practices.
A consensus statement recommends chromosomal microarray (CMA) as the new standard practice for genetic evaluation of children with unexplained developmental delay, autism or birth defects. CMA consistently has a diagnostic yield of 15 to 20 percent, compared to five percent with G-banded karyotyping.
A Brandeis biochemist confirms Darwin's theory of universal common ancestry using a large-scale, quantitative test. The study finds that all life forms share a genetic heritage from single-celled microorganisms to humans, supporting UCA millions of times over alternative theories.
A genetic study of island lizards reveals they freely exchange genes, contradicting the prediction that geographical isolation would lead to separate species. The findings suggest ecological speciation due to differences in environmental conditions may play a crucial role in speciation.
A breakthrough finding from Tel Aviv University may lead to earlier diagnosis, more effective intervention, and perhaps even a cure for multiple sclerosis. Researchers have uncovered new ways of detecting MS in the blood through their research at Sheba Medical Center, allowing for potential early treatment.
Researchers found a gene expression test reduced biopsies and was safe, resulting in similar two-year outcomes as traditional biopsies, and was preferred by patients. The test measures 11 genes associated with heart transplant rejection, reducing the need for invasive heart muscle biopsies.
A recent study found that a gene variant associated with the COMT gene may help protect against decline in cognitive function among older adults. The Val variant showed a protective effect on thinking skills, outperforming those without the variant by up to 45%.
Exclusive licenses to gene patents hinder competition and innovation in genetic testing, according to researchers at the Duke Institute for Genome Sciences & Policy. The findings suggest that overly broad patent claims are the primary issue, rather than patents themselves.
Researchers from Duke University found that exclusive patents in gene testing slow promising new technologies and business models. The studies examined genetic risk testing for 10 clinical conditions, including breast and colon cancer.
Researchers at NYU Langone Health have developed a powerful new method to investigate the discrete steps necessary to turn on individual genes. The finding allows scientists to examine the unfolding of DNA, a process required for gene activation, which breaks down in diseases like cancer.
A large study finds that chromosomal microarray analysis has about three times the detection rate for genetic changes related to autism spectrum disorders (ASDs) than standard tests. The test detects tiny sub-microscopic deletions or duplications of DNA sequences, offering greater resolution than standard karyotyping.
The Autism Consortium study reveals that chromosomal microarray analysis (CMA) has the highest detection rate among clinically available genetic tests for autism spectrum disorders. CMA identified 18.2% of patients with deletions or duplications, compared to 2.23% and 0.46% for standard testing methods. The study recommends CMA as part...
The discovery reveals QPD is caused by an extra copy of the PLAU gene, leading to overproduction of an enzyme that accelerates blood clot breakdown. This breakthrough genetic test will uncover many more cases and provide fundamental insights into how the uPA gene is controlled.
A new genetic test has been developed by CAMH scientists Dr. John Vincent and Dr. Muhammad Ayub to analyze CC2D2A gene mutations causing about 10% of intellectual disability cases. The test aims to provide more accurate diagnosis and offer appropriate genetic counseling for affected families.
Researchers found a strong association between the DRD4 gene and novelty seeking behavior in great tits, but results varied across different populations. The study's findings mirror those of human research, suggesting that genetic factors may play a role in shaping personality traits.
A new approach to smoking cessation uses individualized risk assessments to motivate smokers to quit. Studies show that tests like Respiragene improve quit rates by providing smokers with personalized information about their risk of lung cancer and other smoking-related diseases.
A new study from UC Davis Health System identifies a key protein called SynDIG1 that plays a crucial role in creating and sustaining synapses, essential for learning, memory, and perception. The research fills a major gap in understanding the molecular foundations of higher cognitive abilities and brain disorders.
A new study with Brazilian dwarves suggests human growth hormone deficiency has no effect on normal lifespan. Contrary to previous claims, HGH levels do not seem to positively or negatively impact lifespan.
Duke University is developing a rapid and accurate genomic-based diagnostic test to determine radiation exposure from a dirty bomb or nuclear attack. The test, which uses a signature of gene expression, shows over 90% accuracy in diagnosing radiation status.
A landmark study by Dr. Kathy Albain of Loyola University Health System found that chemotherapy improves survival in postmenopausal breast cancer patients, while a multigene test can identify those who may not benefit from chemotherapy. The study established the standard of care for tamoxifen treatment in relation to chemotherapy.
The study utilizes a viral-based gene transfer system to make Nerve Growth Factor (NGF), which helps maintain nerve cell survival in the brain. Participants will receive CERE-110 via neurosurgery or placebo surgery and undergo thorough medical examinations and cognitive testing.
Researchers analyzed patients with a syndrome similar to NF1 and found that diagnosis may be difficult due to shared clinical findings. The study highlights the importance of molecular genetic testing to resolve diagnoses in cases of uncertainty.
Researchers at the University of Oregon and University of Rochester discovered a compound that reverses genetic defects in RNA leading to type 1 myotonic dystrophy. The compound, pentamidine, disrupts complexes formed by expanded repeats and protein molecules, allowing proper splicing errors to be rescued.
A Mayo Clinic study found that genetic testing results are not binary but probabilistic, requiring physicians to meticulously interpret test results. The study also showed that about 4% of healthy Caucasian volunteers have rare variants present in the background noise of genetic tests.
A study by UC Irvine neuroscientists found that people with a particular gene variant performed more than 20 percent worse on a driving test than those without it. The variant limits the availability of brain-derived neurotrophic factor, which keeps memory strong.
Women without HOXA13 gene mutations do not need x-rays and tests for hand-foot genital syndrome, according to a new study. Hand-foot genital syndrome affects reproductive and urinary systems development.
Two studies by Dartmouth researchers analyzed how personal genetic testing companies use genome data to judge customer health, finding the knowledge base is still in its infancy. The authors also used genetic data to reveal ancestry information, discovering six subgroups of people with distinct genetic backgrounds.
The introduction of new prenatal tests for Down syndrome has led to a steady decrease in births of babies with the condition since their introduction. Experts argue that existing tests may not be providing accurate information, leading to difficult conversations between physicians and expectant parents. To address this, researchers are...
A new cost-effectiveness study found that genetic testing for metastatic colorectal cancer patients may be beneficial if it leads to nearly as effective dose-reduced treatment, improving life expectancy and reducing healthcare costs. The test identifies patients with a specific DNA variation that increases the risk of severe neutropenia.
The American College of Clinical Pharmacology warns of the lack of supervision in direct-to-consumer genetic testing, emphasizing the need for clinical pharmacologists to educate patients on potential risks and limitations. Effective government regulation and professional guidance are crucial to ensure safe and informed decision-making.
Researchers tested individuals with a parent with Alzheimer's disease and found that learning their genetic risk did not result in lasting psychological harm. Genetic counseling helped put the test results into context, reducing distress levels.
A Stanford bioethicist and colleagues argue that the lack of federal regulation in genetic ancestry testing poses significant ethical concerns, including potential misuse and a lack of informed consent. The authors call for stronger oversight and industry standards to protect vulnerable groups.
A UCLA study found that most cancer patients with ocular melanoma would want genetic testing to predict metastasis risk, regardless of treatment availability. The test results showed little impact on quality of life or depression symptoms, suggesting it could provide a valuable tool for planning and emotional preparation.
A new study published in Journal of General Internal Medicine found that few women with family histories of hereditary breast or ovarian cancer are discussing genetic testing with their physicians. Most high-risk women are unaware of the available test or have not discussed it with their clinician.