Articles tagged with Genetic Testing
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A new study found that most parents who get tested for breast cancer genes share their results with their children, even if they are very young. The majority of parents shared their results with at least one child, with older children more likely to be informed than younger ones.
Researchers at University College Dublin have identified a genetic alteration causing anophthalmia, a condition where children are born without eyes. The STRA6 gene plays a crucial role in vitamin A transport, and alterations in this gene can lead to eye malformations.
Researchers at the Virginia Institute of Marine Science have developed genetic markers to test blue marlin for their ocean of origin. The new test can accurately determine if a blue marlin was taken from the Atlantic or Pacific Ocean, helping federal seafood agents enforce regulations and prevent overfishing.
A recent study has characterized rare genetic variants in the SLCO1B1 gene that can significantly influence the disposition of methotrexate, a drug used to treat cancer and autoimmune disease. These rare variants can lead to high levels of methotrexate in the blood and increased side effects.
Researchers at the University of Utah have identified a gene associated with frequent herpes-related cold sores. The C21orf91 gene is linked to susceptibility to HSL, and variations in this gene may predict or prevent cold sore outbreaks.
A blood-based gene expression test was found to be more effective than myocardial perfusion imaging (MPI) in ruling out obstructive coronary artery disease in stable symptomatic patients. The test demonstrated high sensitivity and negative predictive value, enabling clinicians to rule out patients with high accuracy.
University of Michigan researchers will provide genetic testing and risk estimates for individuals with mild cognitive impairment. The study aims to evaluate the impact of health education and genetic testing on psychological adjustment and behavior changes.
A novel point-of-care genetic test has been shown to be clinically feasible and accurate, enabling rapid personalization of anti-platelet therapy for patients at risk. The study demonstrates that tailored treatment successfully protected all patients with the at-risk genetic variant from adverse events.
Researchers at Duke University Medical Center have found a genetic variant associated with lower five-year survival rates after coronary artery bypass graft. The thrombomodulin (THBD) gene was independently linked to increased long-term mortality risk following CABG procedure.
A new study develops and tests genetically engineered spider silk for safe and efficient gene delivery, offering a promising alternative to viral vectors. The material successfully attaches to diseased cells and injects DNA without harming mice in lab studies.
Research suggests that predictive genetic testing in children may have benefits, including identifying individual's inherited vulnerabilities to diseases and enabling early health interventions. However, existing guidelines warn of potential psychological harm, which critics argue is often based on speculation rather than evidence.
A study found that many physicians do not follow guidelines for breast and ovarian cancer counseling and testing, affecting high-risk women who may miss out on life-saving interventions. Physicians were more likely to follow guidelines when accurately estimating patients' ovarian cancer risks.
Researchers found that testing every new colon cancer patient for Lynch syndrome can reduce cancer deaths at a reasonable cost. Testing multiple family members after the initial diagnosis is crucial to spreading the benefit across more relatives, according to the study.
A new study has revealed that Trichomonas vaginalis is more than twice as common in women aged 40 and older, with 13% of women in this age group infected. The infection can lead to severe health problems if left untreated, including pelvic inflammatory disease and premature labor.
Research from Tel Aviv University finds that genetics play a key role in lower back pain and disc degeneration, with different genetic factors causing both conditions. The study suggests that identifying these genetic factors could lead to more effective treatment options.
A new guide recommends when and how genetic testing is useful for inherited cardiac conditions, aiming to lower the risk of sudden cardiac death. The guidance focuses on 13 inherited conditions, including cardiomyopathy and long QT syndrome, and provides recommendations for their diagnosis and treatment.
A genetic and biochemical test has been developed to diagnose Idiopathic Infantile Hypercalcemia (IIH), a rare inherited disease affecting 600 Canadians. The test detects the defect behind vitamin D breakdown, resulting in excess calcium in the blood and calcification of organs.
A new strain of methicillin-resistant Staphylococcus aureus (MRSA) has been discovered in both human and dairy cow populations. The genetic makeup of the new strain differs from previous strains, making current molecular tests ineffective in detecting it.
A new variant of meticillin-resistant Staphylococcus aureus (MRSA) has been detected in cow's milk, which is genetically different from existing MRSA strains. The variant can evade some existing detection methods, leading to incorrect prescriptions and potentially putting people at risk.
A recent study by Rachel Kalf found that DTC genetic tests have moderate predictive ability but often assign increased risk to individuals without substantially higher disease rates. The researchers concluded that these tests are inaccurate and do not provide significant benefits to individuals.
Researchers have successfully isolated individual charged particles like DNA molecules using a method called Paul trapping, which could lead to personalized diagnosis and treatment. The device is small, inexpensive, and can be used on a single chip, allowing for rapid testing of patient samples in offices.
Researchers at Johns Hopkins University have developed a new technique to detect both genetic diseases and chromosomal abnormalities in IVF embryos. This method allows for the simultaneous detection of single-gene mutations and aneuploidy, enabling couples to choose healthy embryos for implantation.
Mayo Clinic researchers developed a protocol that increased testing for Lynch syndrome by nearly 90%, helping doctors make informed decisions on care timing and delivery. The testing caught 11% of MSI-H tumors that would have been missed, improving early cancer detection.
A potential celiac disease vaccine, Nexvax2, has demonstrated safety and efficacy in a Phase I clinical trial, with the goal of treating the autoimmune disease by desensitizing patients to specific gluten peptides. The vaccine is expected to enter Phase II trials within the next year.
Scientists have discovered the CLN6 gene on chromosome 15 as the cause of inherited recessive Kufs type A disease. This breakthrough enables a rapid and simple blood test for diagnosis, screening in at-risk families, and genetic counseling.
A study by UC Riverside psychologists found that potential users of direct-to-consumer genetic tests are influenced by perceived benefits and barriers to testing, as well as anticipated regret over testing versus not testing. Participants who received only positive information expressed greater intentions to pursue testing.
A new study published in Pediatrics found that parents are interested in using predictive genetic testing for their children if the test is made available. The study involved 219 parents who were offered genetic testing for common adult-onset health conditions and found that most parents would also test their children, believing it cou...
The Canadian Cardiovascular Society and Canadian Heart Rhythm Society have published comprehensive guidelines on the use of genetic testing in managing patients with inherited heart rhythm disorders. The guidelines emphasize the importance of ordering physicians having a clear understanding of ethical issues surrounding genetic testing.
A University of Melbourne academic warns that lack of specific laws governing Australia's newborn screening program could threaten public trust. The program, which tests baby blood for genetic conditions, raises legal questions about who owns the blood and how it is used.
A recent study published in the Journal of Thoracic Oncology has revealed that pemetrexed, an established chemotherapy drug, can produce significant responses in patients with anaplastic lymphoma kinase (ALK)-positive advanced non-small cell lung cancer. The treatment was found to be effective in over half of these patients, offering n...
Researchers found that the vaccine-induced cellular immune response exerted selective pressure on the virus, leading to changes in its genetic makeup. The study identified potential T-cell targets and proposed a new design for vaccines aimed at debilitating viruses.
A new home urine test has been developed to measure insulin production in patients with Type 1 and Type 2 diabetes, replacing multiple blood tests. The test can differentiate between the two types of diabetes and rare genetic forms.
Researchers at North Carolina State University have developed roses that incorporate a gene from celery to fight botrytis, a major post-harvest disease. The genetically modified roses aim to extend vase life and reduce shipping times, making them more viable for the cut flower industry.
Tests on children with developmental difficulties have led to discovery of genetic disorders, also revealing parentage information. In cases where a quarter or more of the genome is the same, the likely cause is almost certainly an incestuous relationship.
Long QT syndrome affects approximately 1 in 2500 people and can cause torsade de pointes episodes leading to sudden death. Researchers identified KCNH2 as the most frequent mutation in patients with long QT syndrome, highlighting the potential for genetic testing to diagnose the condition in carriers without symptoms.
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.