Articles tagged with Genetic Testing
A study published in PLoS ONE revealed the genetic cause of a severe skeletal disease in Brazilian Terrier puppies, caused by a mutation in the GUSB gene. The discovery enables the development of a DNA test to identify carriers, allowing breeders to systematically eliminate the disease from breeding programs.
Researchers at Wayne State University are working on a new technique to analyze fetal chromosomes in the first trimester, which could lead to healthier outcomes for mothers and babies. The approach involves collecting placental cells from the cervix using a safe and non-invasive method.
Researchers discovered a significant correlation between the number of colorectal polyps and genetic mutations, particularly in individuals with multiple adenomas. The study suggests that genetic evaluation for APC and MUTYH mutations may be considered in individuals with 10 or more adenomas.
Researchers at Brigham and Women's Hospital are conducting a new study, REVEAL, which will provide genetic testing and Alzheimer's risk estimates for individuals with mild cognitive impairment. The goal is to evaluate how well participants understand the risk information and adjust their behavior in response.
Research finds that people at risk for early-onset Alzheimer's disease want to know their genetic profile, but struggle with the results. The study also reveals that the general population and those with a family history of late-onset AD tend to be motivated by fear and anxiety when considering genetic testing.
Researchers at Stanford University School of Medicine have successfully sequenced a fetus's genome using only a maternal blood sample. The new approach, published in Nature, has significant implications for prenatal diagnosis and could bring genetic testing one step closer to routine clinical use.
A new gene expression test can accurately classify thyroid nodules as low-risk, allowing for the avoidance of unnecessary surgeries and lifelong hormone replacement treatment. The test demonstrated a 92% correct identification rate and 85-95% negative predictive value, ruling out malignancy.
Researchers successfully used exome sequencing to diagnose genetic diseases in patients with intellectual disability, blindness, deafness, movement disorders, cancer, and OXPHOS diseases. The technique was able to identify causative mutations in up to 20% of cases, offering a more efficient alternative to traditional Sanger sequencing.
The proposal to test female athletes' testosterone levels for competition eligibility raises concerns about fairness, discrimination, and the reliability of such tests. Stanford scientists argue that there is insufficient evidence to set a benchmark for normal testosterone levels in elite female athletes.
A new analysis from Fox Chase Cancer Center suggests that high costs can limit access to potentially life-saving genetic testing for cancer-causing genes. Patients who are more at risk of certain cancers may be willing to pay higher costs, but others may avoid testing due to cost concerns.
A recent NIH-led study found that receiving genetic test results does not significantly impact the demand for follow-up health services. The researchers analyzed electronic health records and found no increase in healthcare usage among participants who underwent genetic testing compared to those who did not.
A new study found that genetic testing does not significantly drive up demand for expensive medical care, even if individuals receive risk information. Researchers analyzed electronic health records of 217 healthy adults and compared their healthcare use before and after genetic testing.
A new study of 15 HDL-raising variants found no association with reduced heart attack risk, challenging the long-held assumption. The research uses genetic approaches to test biological hypotheses and highlights the value of human genetic information in understanding disease biology.
Direct-to-consumer genetic testing offers potential benefits but raises concerns about accuracy, interpretation, and sharing of results. Participants were willing to pay $10-$20 for the tests, but were hesitant due to costs ranging from $100 to $1,500.
Researchers used next-generation sequencing to identify genetic causes of developmental delays and congenital abnormalities in seven out of twelve patients. The study found that the technology can provide a diagnosis about half of the time, motivating its use for patients with unknown genetic conditions.
A new human embryonic stem cell line has been developed to aid research on Charcot-Marie-Tooth disease, a common inherited neurological disorder. The line, derived from a donated embryo carrying the gene defect responsible for CMT, is now available for federally-funded research.
The Domino technology, developed at the University of Alberta, enables fast and accurate genetic testing using a miniaturized plastic chip. The innovation has the potential to transform point-of-care medicine, making it possible to screen large populations in a short time.
A survey of mothers tested for hereditary breast cancer risk genes and their partners found unmet needs in making well-informed decisions about family communication. Genetic counseling should provide assistance to parents in disclosing risk information to children, the article proposes.
The University of Ottawa Heart Institute's bedside genetic test has successfully protected patients with a specific genetic variant from adverse events. The test uses a simple cheek swab and has been shown to be effective in reducing high on-treatment platelet reactivity, a marker for complications after stenting.
A new point-of-care genetic test identifies CYP2C19*2 allele, a common variant associated with increased risk of major adverse events. The test enables personalized dual antiplatelet treatment, reducing complications and improving outcomes for patients after coronary interventions.
Researchers found genetic mutations associated with dilated cardiomyopathy in nearly 17.4% of patients, with children more likely to have these mutations than older adults. This study's findings will help develop new treatments and identify potential genetic tests for inherited forms of the disease.
A study found that a simple genetic test can predict the aggressiveness of rhabdomyosarcoma tumours in children, allowing for tailored treatment and improved survival rates. The test identified a panel of genes whose altered activity levels could be used to predict patient response to treatment.
A group of specialists explored options for searching and reporting incidental genetic findings in clinical genome sequencing. The study found that while there was no perfect agreement among experts, the majority agreed that many incidental findings should be reported to clinicians. Specialists also differed on whether to disclose cert...
Chimpanzee populations living in close proximity exhibit substantially more genetic diversity than humans on different continents. This study provides a valuable tool for chimpanzee conservation, enabling the identification of population origin and provenance.
Researchers developed a safer and more accurate way to administer warfarin by combining individual genetic data with a mathematical model. This new formula helps physicians determine the safest dose for each patient, potentially eliminating many emergency hospitalizations.
A $2 million grant from NINDS funds research into the psychosocial impacts of epilepsy testing. The study aims to explore how genetic information affects individuals and their families, with a focus on reducing stigma and discrimination associated with epilepsy.
The Collaborative Cross project in North Carolina has created a vast library of genetic material, mirroring human diversity in mice. This enables faster and more accurate understanding of genetic variation's impact on living systems, potentially leading to breakthroughs in treatment and prevention for human diseases.
A nationwide study has found that chromosomal microarray testing detects additional genetic abnormalities in about 1 in 70 normal karyotype samples and 6% of cases with structural abnormalities. The new test may soon replace standard karyotyping for prenatal testing, providing more information on potential disorders.
A new, investigational colorectal cancer screening test developed by Mayo Clinic and Exact Sciences Inc. has shown highly accurate results in detecting precancerous tumors and early-stage cancer, improving the chances of better outcomes for patients. The test is noninvasive, patient-friendly, and requires no bowel preparation or diet c...
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 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.
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.
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.