Articles tagged with Genetic Testing
A study found that parents of children with genetic conditions are avoiding subsequent pregnancies instead of undergoing pre-natal testing or abortion. This 'ambivalent' response is rooted in a deep-seated concern about the limitations of new reproductive technologies and the risks involved.
A study published in PLoS Genetics found that genetic screening for diseases like cancer and heart disease may not accurately predict individual risk due to limited genetic variants associated with each condition. This limits the effectiveness of personalized genetic testing currently offered by companies.
A study found that consumers desire more genetic testing for life-altering conditions such as mental retardation, blindness, and cancer, but are less interested in prenatal testing for traits like superior intelligence or athletic ability. The study suggests that consumers prioritize screening for diseases over enhancements.
New analysis by University of Cincinnati researchers found that genetic testing to guide initial dosing of warfarin may not be worth the costs for typical patients. However, it could be beneficial for those at high risk of major bleeding. The study suggests that testing should be done in-house and at lower cost without delays.
A recent Ontario study found that only 19% of women with invasive ovarian cancer were referred for genetic testing of BRCA1 and BRCA2 genes, highlighting a lack of awareness about the risks and benefits of genetic testing. This omission puts family members at risk as they are unaware of their potential cancer risk.
New guidelines developed by the American Academy of Neurology identify a combination of blood tests and other specialized assessments as the most helpful for finding the cause of neuropathy. These tests can often point to common causes of neuropathy, such as diabetes or heredity.
Research by the M.I.N.D. Institute shows that mutations of the fragile X gene cause a range of diseases, including neurodevelopmental delays, autism, infertility, and neurodegenerative disease in older adults. The institute urges testing for all patients who show signs of diseases linked to FMR1 mutations.
A new microarray analysis technique improved prenatal diagnosis for detecting chromosomal abnormalities in 300 cases at Baylor College of Medicine. The test identified 58 copy number variations, including 15 significant findings that would have been missed otherwise.
A randomized trial of over 36,000 postmenopausal women found no association between calcium and vitamin D supplementation and reduced breast cancer risk. The findings challenge previous observational studies suggesting a potential link between vitamin D levels and breast cancer incidence.
DeCODE's DNA-based risk tests have been shown to increase accuracy of MI risk prediction by measuring genetic markers on chromosomes 9p21 and 4q25. These tests provide a new tool for improving screening, prevention, and treatment of cardiovascular conditions.
deCODE's DNA-based tests measure genetic markers linked to increased cardiovascular conditions' risk. These tests provide doctors with a new tool for improving screening, prevention, and treatment.
A team at Montana State University has discovered a fungus that produces diesel fuel, which could offer an alternative to fossil fuels. The fungus, called Gliocladium roseum, can grow in cellulose and produce medium-chain hydrocarbons.
Researchers developed a simple blood test that measures inflammatory gene expression to evaluate cystic fibrosis patients' response to therapy. The test identified genes CD36, CD64, and ADAM9 as accurate biomarkers for therapeutic response.
The UC San Diego Skaggs School of Pharmacy and Pharmaceutical Sciences is leading a nationwide program in pharmacogenomics, providing educational resources to over 100,000 healthcare professionals. The goal is to increase awareness of pharmacogenomic testing and its implications for personalized medicine.
Researchers at the University of Illinois College of Medicine discovered a novel enzyme linked to anencephaly, a rare fatal birth defect. The study suggests that a genetic test may be developed to diagnose the condition early in pregnancy.
Researchers at Stanford University have developed a new prenatal test for Down syndrome that requires only a maternal blood sample, significantly reducing the risk of miscarriage. The test uses fragments of fetal DNA in the woman's blood to detect chromosomal disorders and could provide an earlier diagnosis than current methods.
Molecular diagnostic products are based on cutting-edge research in genomics and proteomics, enabling early detection of cancer and optimizing drug therapy. Companies like Roche, Myriad Genetics, and Genomic Health are well-positioned for future growth with their genetic tests and companion diagnostics.
A study of 215 women who underwent BRCA testing found that personal beliefs about inconclusive results are a strong predictor of psychological adjustment. Women with higher levels of worry and distress were more likely to struggle with the uncertainty of their test results.
The University of Virginia lab has created a hand-held device that can conduct DNA tests from a pin-prick-size droplet of blood in under an hour, reducing wait times and costs. This technology has far-reaching implications for personalized medicine, crime scene investigation, and agricultural biotechnology.
Scientists identify a gene mutation in SLC17A8 that causes a previously unknown form of hereditary hearing loss, diminishing ability to hear high-frequency sounds. The mutation affects varying severity and onset age among individuals, highlighting the need for families and doctors to be alert for inherited hearing problems.
Recent studies on mice have found six specific chromosomal locations that significantly correlate to the inheritance of high physical activity traits. Furthermore, 17 other genetic locations were identified that also control activity levels through interaction with each other, accounting for approximately 84% of behavioral differences ...
The Genetic Information Nondiscrimination Act (GINA) has been signed into law, providing protections for patients and research participants from genetic discrimination in health insurance and employment. However, gaps in oversight of genetic tests and the need for regulatory guidance remain to be addressed.
Geneticist James P. Evans cautions against rushing into genetic testing, citing limited evidence of improved health outcomes and potential patient harm. Despite advances in genomics, Evans believes the technology has not yet been proven to yield meaningful information for individualized health advice.
A genetic test has shown promise in predicting lung cancer recurrence in early-stage patients. The test uses five high-risk gene signatures to identify patients at highest risk of cancer return, potentially leading to more aggressive treatment.
A study of 15 Finnish families has pinpointed genetic regions associated with musical aptitude, including genes involved in neural development. The findings suggest that musical talent may be regulated by multiple predisposing genes/variants, offering new insights into music's relationship to language and brain function.
Researchers developed a lab-on-a-chip PCR test that combines sample preparation with PCR on a single chip, reducing analysis time from hours to minutes.
A recent study led by Northwestern Memorial physician Virginia Kaklamani suggests that variations of the adiponectin gene may increase a woman's risk of developing breast cancer. This discovery could lead to the development of a genetic testing model to predict breast cancer risk more accurately.
The American College of Medical Genetics has established guidelines for direct-to-consumer genetic testing to ensure informed decision-making. The recommendations include involving a knowledgeable health professional, clear information about test results, and scientific evidence-based testing protocols.
The FDA and FTC must regulate unproven genetic tests to protect public health. The authors argue that current lack of oversight leads to misleading claims and inappropriate decisions about genetic testing.
A new study reveals that health professionals and the public lack preparation to integrate genetic testing into practice. The study suggests that education and training are needed to address this gap, with potential solutions including increasing the size of the genetics specialty workforce.
Genetic tests marketed directly to consumers may be premature and lack scientific validity. Dr. Kenneth Offit warns of the risks of self-ordering these tests without guidance from healthcare professionals. He advocates for cautious introduction of new 'whole genome' testing in clinical trials.
Researchers are exploring non-conventional counseling methods, such as telephone counseling, to broaden accessibility for genetic testing. The study aims to evaluate the effectiveness of telephone genetic counseling versus traditional in-person counseling among women at high risk of carrying a BRCA1/2 mutation.
Researchers found advanced-stage ovarian cancer patients with non-Ashkenazi Jewish BRCA mutations experience longer progression-free and overall survival rates compared to those without BRCA mutations. Additionally, a majority of women with ovarian cancer are unaware that BRCA testing is available, despite it potentially improving thei...
A growing body of evidence supports preventive measures for high-risk women, including those with BRCA1 and BRCA2 mutations. Primary care physicians should learn about genetics, take a comprehensive personal and family history to advise patients at increased risk.
Researchers have developed a shoebox-sized device with the same capability as a full lab, offering huge savings to healthcare systems and improving patient care. The device can perform various genetic tests, including cancer diagnosis and virus detection, at an affordable cost of $100 Cdn.
Researchers have identified a new gene test that can identify men with a higher risk of developing prostate cancer. The study found that men carrying a combination of known risk genes are four to five times more likely to develop the disease, providing a potential breakthrough in early detection and treatment.
Genetic Alliance has named Genetic Testing as its official journal, a peer-reviewed publication reporting on genetic testing aspects. The alliance aims to advance healthcare through informed decision-making and partnership among stakeholders.
A new genomics research found that a simple blood test can determine which men are likely to develop prostate cancer. Researchers identified five genetic variants associated with prostate cancer risk, which combined could account for 40% of cases.
Children of BRCA mutation carriers are more likely to support genetic testing, despite potential risks and benefits. A study found that 40% of parents and their adult offspring supported testing minors, with half in favor only in certain circumstances.
A study at Fox Chase Cancer Center found that men with female relatives testing positive for a BRCA mutation have an increased risk of developing prostate and breast cancer, yet many are unaware of this risk. The study highlights the need for better communication between healthcare providers and male family members about genetic test r...
A study published by the American Academy of Neurology found that individuals with trouble reading quickly exhibit brain abnormalities in their white matter. The researchers discovered a specific type of dyslexia affecting these individuals, which was linked to disruptions in their white matter fibers.
Researchers at Iowa State University have developed a new technology that can detect a single molecule of the human papillomavirus, associated with cervical cancer, significantly improving current detection methods. This breakthrough allows for earlier diagnosis and potentially increased vaccine effectiveness.
A new Mayo Clinic study presents a chromosome test called 'FISH' as a better method for identifying genetic abnormalities in patients with plasma cell malignancies. This improved analysis may help physicians assess patient prognosis and treatment response more accurately.
Researchers highlight the limitations of genetic ancestry tests, including their inability to identify all ancestral groups or locations, false positives and negatives, and lack of connection between DNA and racial identity. The tests are often used by consumers to validate genealogical records or search for specific ethnic affiliations.
Researchers caution that genetic ancestry testing is flawed and can produce false leads, impacting tribal benefits, medical decisions, and census data. The technology's limitations and potential dangers warrant policy statements from professional associations.
Researchers found that when co-parents attend genetic counseling sessions with their mothers, they are more informed about testing and communicate better with their children. This increases the mom's gatekeeping role in sharing information, leading to improved child preparedness for inherited cancer risks.
A recent study published in Neurology has dispelled a common myth about smoking and multiple sclerosis (MS). Contrary to previous reports, the research reveals that cigarette smoking has no effect on the progression of MS, contradicting earlier studies suggesting a link between the two.
Researchers found that quail males who learned to associate a stimulus with access to a female were more likely to fertilize eggs, increasing their reproductive success. The findings suggest that learning plays a significant role in reproductive fitness and evolution.
Apolipoprotein E (APOE) genetic risk factor for Alzheimer's disease will be examined in a five-year project testing healthy adults aged 18-75. The study aims to identify markers sensitive to APOE, potentially leading to earlier detection and prevention of the disease.
Researchers discovered 10 mutations in the insulin gene causing permanent neonatal diabetes, a rare form of diabetes affecting young children. Early detection and treatment targeting ER stress might preserve or restore insulin production.
A study found that clinicians follow depression treatment guidelines poorly, failing to address key issues like suicide risk and alcohol use. Better clinician adherence is associated with reduced persistent depressive symptoms.
The Centers for Medicare and Medicaid Services (CMS) has rejected a petition calling for strengthened standards for genetic testing laboratories, citing cost concerns. The decision prioritizes affordability over patient safety, despite reports of laboratory errors and inadequate proficiency testing.
Researchers developed an improved dosing formula for warfarin that takes into account genetic variations in VKORC1 and CYP2C9 genes. This approach enables faster and more accurate estimation of the optimal warfarin dose, cutting dosage changes and potentially increasing patient safety.
The American College of Medical Genetics recommends using genetic testing to guide warfarin dosing and reduce the risk of bleeding complications. The review suggests that genetic variants in CYP2C9 or VKORC1 can be used to determine optimal dosing levels, but further research is needed to address clinical utility and balance between ha...
A review of 77 articles found that most claims of sex-related genetic differences in disease associations are insufficiently documented and validated. Only one out of 60 seemingly well-documented claims was consistently replicated in other studies.
A new study reveals that more than half of parents with a BRCA mutation share their genetic test results with children under 25. Many children experience initial negative reactions and struggle to understand the significance of this information. Further research is needed to address the emotional impact on these families.
The Emory research team aims to identify protein biomarkers that correlate with ALS onset and progression. Developing such biomarkers could enable early diagnosis, disease monitoring, and potential prevention of the disease.
Researchers found a marked resemblance between molecular etiology of neurons in animal models and humans with HD, making them relevant for studying the disease and testing treatments. The study's findings have important consequences for preclinical drug testing.
A new study reveals the challenges posed by PGD patients traveling abroad, with concerns over referral processes, counselling, and monitoring. The study highlights inconsistencies in regulation across Europe, with some countries allowing prenatal testing but not PGD.
Scientists have identified a gene mutation causing one form of Charcot-Marie-Tooth disorder, a common inherited neurological disease. The discovery enables a genetic test for people with this subtype, which was previously unidentified and lacked an unknown genetic basis.