Articles tagged with Genetic Testing
Babies diagnosed with diabetes are now immediately tested for all 22 genetic causes, reducing referral time from over four years to under two months. This early comprehensive gene testing provides accurate information on clinical features that haven't yet developed, enabling doctors to anticipate and prevent medical problems.
A study found that multigene panel testing identified harmful mutations in moderate-risk genes and Lynch syndrome genes among 3.8% of women negative for BRCA1 and BRCA2 mutations. The test also recommended additional disease-specific screening and prevention measures for mutation-positive cases.
A new genetic test developed at Stanford University School of Medicine can accurately pinpoint the likely genetic causes of heart conditions in just a couple of days. The test uses a streamlined assay that looks at just 88 genes known to carry mutations that cause heart problems, and costs about $100.
A new test developed by UBC researchers allows physicians to measure the effects of gene silencing therapy in Huntington's disease. The test detects small amounts of toxic protein and can be used to follow changes in brain levels over time.
The American College of Medical Genetics and Genomics has released a new 'Scope of Practice' document to clarify the changing role of medical genetics specialists. The document defines the specialty's scope, including genetic consultations, counseling, testing, and education.
Researchers detected four known genetic mutations causing thoracic aortic aneurysms and identified 22 previously unknown variants contributing to the condition. This technology enabled personalized care, including preventive surgery and more frequent imaging tests for patients with high-risk mutations.
A pilot study in Parkinson's disease suggests that remote recruitment and conduct of research visits is feasible and well-received by participants. The study leverages direct-to-consumer genetic testing and telemedicine to diagnose and treat diseases, potentially increasing participation in clinical research and accelerating diagnosis.
A study published in JAMA reveals that noninvasive prenatal testing for fetal chromosome abnormalities can detect underlying conditions in the mother, including cancer. The test analyzes placental and maternal DNA to identify chromosomal abnormalities, but may also reveal undiagnosed cancers in mothers.
A team of Pitt scientists has developed consensus guidelines for thyroid cancer molecular testing to help clinicians make informed decisions about diagnosing the condition. The new guidelines incorporate newly available tests that better incorporate personalized medicine into diagnosing thyroid cancer.
The American Society of Human Genetics recommends genetic testing for children only when results could have an immediate impact on healthcare decisions. Predictive testing is particularly complicated and may affect family relationships and mental health. ASHG advises against direct-to-consumer DNA testing, especially in healthy children.
A new study uses massively parallel gene function assays to characterize nearly 2000 BRCA1 variants, providing a potential solution for sorting out harmful and harmless variants. The approach demonstrates promise but is not yet ready for use in the clinic.
Researchers from the UCL Institute of Child Health and Great Ormond Street Hospital found non-invasive prenatal testing to be highly effective and acceptable to parents. Over 2,500 women underwent NIPT for high and medium risk pregnancies with Down's syndrome, showing a sharp decrease in invasive tests and increased detection rates.
Researchers at the University of Toronto have identified a possible way to predict if an individual is genetically prone to ALS by analyzing DNA repeats in the C9orf72 gene. The study found that a certain number of repeats, when modified with methyl groups, can cause the disease.
A new report recommends that Congress authorize the development of nationally scaled genomic data systems for patient safety, public health, and scientific advancement. The authors argue that existing regulatory resources are insufficient to assure patients of maximal benefits from genomic testing.
While advances in technology have made multigene testing useful in predicting breast cancer risk, clinicians need awareness of its limitations. Recent studies suggest that low-cost genetic testing solutions may cause undue anxiety and stress due to lack of information about many genetic variants.
The Prolaris test helps physicians determine the aggressiveness of prostate cancer, enabling personalized treatment plans. In a clinical validation study, the test showed that at the active surveillance threshold, predicted 10-year survival rates were 97% and risk of mortality was 3%.
Researchers have developed a new assay that simplifies gene sequencing analysis, making it easier and less expensive. This tool can help identify relevant genetic variants associated with FDA-approved drugs or investigational therapies, potentially leading to personalized treatment strategies.
Researchers have developed a method using bacteria to test for pollutants in water and soil, detecting uranium and nitrate pollution. The test can be done overnight for up to 100 samples and is showing promise in predicting oil spills.
A study at Children's Mercy Hospital demonstrates the potential of rapid whole-genome sequencing in diagnosing genetic diseases in critically ill infants. The STAT-Seq test improved diagnosis rates to over half, leading to refined clinical care and improved treatment outcomes.
Researchers at the University of Huddersfield have developed a solution to distinguish between the DNA of identical twins using high-resolution melt curve analysis (HRMA). The technique exploits differences in DNA methylation patterns caused by environmental factors, enabling forensic investigators to accurately identify guilty parties.
The Alana Foundation has awarded $1.7 million to Case Western Reserve University and MIT to advance research on new chemical compounds for treating Down syndrome. The study will test the effects of these compounds on cells involved in cognitive function, aiming to improve cognitive abilities in individuals with the condition.
A genetic test that can identify desirable and undesirable bee subspecies has been created to improve biosecurity of honey bees worldwide. The test uses 95 genetic mutations that distinguish between African and European honey bees.
A genetic test has been developed to identify 'killer' bees, allowing for the safe import of Varroa-resistant honeybees from countries where killer bees are present. This technology is crucial for preventing losses in Australia's $4-6 billion crop industry relying on honeybee pollination.
A study of oncologists in Europe, Asia, and the US found that nearly one in four patients with advanced lung cancer began treatment without knowing their EGFR mutation status. This lack of testing may compromise treatment outcomes and access to effective therapies.
Scientists at TGen discovered the likely cause of severe muscle weakness in six previously undiagnosed children using state-of-the-art genetic technology. The researchers identified pathogenic variants in genes such as CACNA1S, RYR1, COL6A3, and COL6A6, providing new insights into rare myopathies.
A new ultra-sensitive test can detect mutant huntingtin protein in the cerebrospinal fluid of HD patients, predicting disease severity. The test has the potential to guide clinical decisions and monitor treatment efficacy.
New research reveals stark variation in genetic testing services for inherited eye disease in England, with the South-east ahead of other regions. The study shows that genetic tests have been available on the NHS for over a decade and next-generation sequencing technology has made it possible to map many genes simultaneously.
A new study found that high methylation levels in the Fragile X gene are associated with increased symptoms of depression and social anxiety in women with the premutation genetic abnormality. This blood test may help diagnose individuals at risk and initiate early treatment.
A new study found that kidneys from deceased African-American donors with two APOL1 gene renal risk variants failed more rapidly after transplantation. The study suggests that rapid genotyping of these donors at the time of organ recovery may improve transplant outcomes.
A survey of 1200 Canadians found that most valued news of incidental findings, but personal utility depended on the type of findings. Individuals preferred hearing about diseases with lifestyle modifications or treatment available, while those without treatment options saw less value in receiving such information.
A new study found that more than half of parents are interested in whole genome sequencing technology to determine their risk of hereditary diseases. The technology allows for the examination of a person's DNA makeup to provide information about future disease risks.
Oncologists welcome gene expression profiling tests as an added tool in deciding whether women with early-stage breast cancer should have chemotherapy. However, they have significant reservations about the cost of the test and whether it is being overused and used for the right patients.
A new study from Dana-Farber Cancer Institute found that many websites marketing personalized cancer care services make exaggerated claims, with 88% offering nonstandard tests lacking clear clinical utility. The researchers urge consumers and healthcare providers to critically evaluate these services.
A study published in JNCI found that most online cancer care websites offer nonstandard and unvalidated genetic tests, despite marketing them as personalized and effective. The vast majority of companies promoting these tests do not have evidence to support their clinical utility.
A new study of cancer patient-clinician encounters found that only a small percentage of patients requested clinically inappropriate tests or treatments. Most requests were for imaging studies, laboratory tests, or palliative care interventions, with few requesting chemotherapy or proton beam therapy.
The Journal of Molecular Diagnostics published a Special Article on laboratory perspective of incidental findings reporting, highlighting the need for increased understanding and transparency of complex genomic testing. The AMP Incidental Findings Working Group recommends laboratories establish clear policies for delivering ancillary i...
Researchers mapped 184 genetic duplications to aid in the interpretation of copy number variations (CNVs) found in individuals referred for genetic testing. The study found that most CNVs were inherited from a parent and often disrupted nearby genes, making it difficult to pinpoint particular genes responsible for medical conditions.
A new study from The Scripps Research Institute suggests a drug compound can benefit not only parents but also their children by changing genetic expression, leading to improved memory and motor skills in offspring with Huntington's disease. This breakthrough discovery offers promising potential for treating the inherited disorder.
A study published in Genetic Testing and Molecular Biomarkers found that specific variations in the ADIPOQ gene may increase or decrease colorectal cancer risk. The research suggests that these genetic variations interact with environmental factors, such as red meat intake, to affect cancer risk.
A study by the American Academy of Ophthalmology found that 7 out of 11 popular eye vitamins do not match scientific evidence, with some products containing lower doses of essential ingredients. The study highlights the importance of ophthalmologists educating patients on the proper use of nutritional supplements for AMD treatment.
A new study published in Science Translational Medicine confirms the benefits of genomic medicine in diagnosing children with neurologic disorders. Genomic testing has ended diagnostic odysseys for families, leading to changes in clinical impressions and management, while also reducing wait times by over six years.
The Prolaris test could save the healthcare system $6 billion over 10 years by reducing costs and improving health outcomes. The test improves health outcomes, reduces healthcare costs, and aids physicians in providing clinical care for their patients.
Scientists at Institute of Food Research developed a fast and cheap alternative to DNA testing for distinguishing horse meat from beef. The new method uses NMR spectroscopy to analyze the chemical composition of fat in meats, with results available in just ten minutes.
The Genetic Eye Disease (GEDi) test, developed by Massachusetts Eye and Ear, is a comprehensive genetic test for inherited eye disorders. It includes all known genes associated with these conditions and has been shown to be 98% accurate in detecting genetic variants, outperforming whole exome sequencing.
Researchers found age-related differences in DNA methylation in 8% of genome sites, but most changes did not affect cellular function. A small subset of methylation changes were associated with altered gene expression and pulse pressure.
Researchers developed a genetic test that can predict acute rejection up to three months in advance. The non-invasive test measures gene expression levels and can identify patients at high risk of rejection, allowing for tailored immunosuppressive therapy.
Repeat testing after puberty revealed abnormal electrocardiogram findings in most individuals with a first-degree relative with Brugada syndrome. This suggests the need for repeated monitoring of family members of patients with Brugada syndrome, even those initially considered at low risk due to young age.
Researchers at the University of Toronto found that personalized dietary advice based on a person's genetic makeup leads to better eating habits and significant reductions in sodium intake. The study, published in PLoS One, suggests that genetic testing can improve lifestyle changes by providing tailored food recommendations.
Researchers developed a genetic test to identify men at highest risk of prostate cancer recurrence after localized treatment. The test analyzes biopsy tissue and tumor oxygen content to predict disease return with 80% accuracy, enabling personalized treatment plans.
Genomic tests using next generation sequencing technologies face access issues due to inadequate evidence on clinical utility. Experts suggest a four-pronged approach to improve access, including robust validation studies, prioritizing research and evidence, and evolving the evidence review process.
The Myriad myPath Melanoma test has been shown to improve patient care through more definitive diagnoses of skin lesions, particularly in difficult-to-call cases. This resulted in a 49% change in physicians' treatment recommendations for patients with melanoma subtypes.
A European multicenter harmonization study reveals that standardized semi-quantitative anaplastic lymphoma kinase (ALK) IHC is reliable and comparable to FISH testing for detecting ALK protein expression. The study showed 100% concordance among institutions on 15 well-characterized NSCLC specimens, making IHC a potential stand-alone test.
A new rapid test developed by University of British Columbia researchers can predict severe sepsis within an hour, allowing timely treatment to begin. The genetic signature associated with the disease has been identified and can be tested as soon as a patient arrives in the emergency ward.
A new test using DNA sequencing identifies single mutations causing rare genetic disorders in children, improving diagnosis rates from 5% to 40%. The UCLA Clinical Genomics Center uses the test to provide concrete diagnoses and treatment plans for families seeking answers.
A study of 2,000 patients found whole-exome sequencing to be an effective diagnostic tool, identifying genetic mutations in 25% of cases. The technique was particularly useful for rare genetic events and new mutations contributing to disease.
The American Academy of Neurology and the American Association of Neuromuscular & Electrodiagnostic Medicine have developed a new guideline for determining the specific subtype of limb-girdle or distal muscular dystrophy. This guideline is based on a thorough review of available studies and provides recommendations for evaluating sympt...
A new study examines the implications of re-contacting patients with new genetic information, exploring consent, communication, and expectations. The research aims to provide evidence-based recommendations for an ethical framework regarding patient re-contacting.
A UCSF study found that educating pregnant women about their choices on prenatal genetic testing leads to a decrease in the number of tests. Women who received clear information and unbiased guidance were less likely to undergo diagnostic testing, scoring higher in knowledge of genetic testing.
A study of pregnant women receiving computerized decision-support guides found significantly less invasive diagnostic testing compared to those without. The intervention resulted in more women choosing no or screening-only testing strategies.
A new study by NYU's Center for Drug Use and HIV Research found that many drug users have concerns about genetic testing due to lack of confidentiality and disclosure. Despite these concerns, participants indicated they would be more positive towards genetic testing if it improved their medical care.