Articles tagged with Genetic Testing
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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 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.
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.
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.
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.
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.
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 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 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 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.
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 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.
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.
A recent study by Mayo researchers found that about 40% of patients referred for a second opinion on long QT syndrome (LQTS) did not show sufficient evidence to merit the diagnosis. The study highlights the challenge in diagnosing LQTS, which can be lethal if not diagnosed correctly, and emphasizes the need for cautious evaluation by e...
Researchers developed a cell culture test for assessing genetic toxicity that may prove dramatically cheaper than existing animal tests. The assay allows genetic toxicity to be examined far earlier in the drug development process, making it much more efficient.
A systematic review found that screening all women with newly diagnosed breast cancer using immunohistochemistry and confirming ambiguous results with fluorescence in situ hybridization is the most cost-effective strategy. Gene patenting can lead to restricted access to genetic testing and treatments, increasing healthcare costs.
The AlloMap test has been shown to correlate with oxygen saturation levels, cardiac filling pressures, and the electrical properties of the transplanted heart. Non-invasive blood tests can also detect cytomegalovirus-induced immune responses in lung transplant patients.
Researchers investigate interest in genetic testing among healthy young adults and its impact on healthcare decisions. Participants receive free multiplex genetic testing, which detects variants of genes linked to various diseases.
Researchers have developed a genetic test that can predict which hepatitis C patients are at high risk of developing cirrhosis. The test uses a 'Cirrhosis Risk Score' based on seven genes and has been validated in independent studies, offering hope for more targeted treatment.
Researchers at Baylor College of Medicine found that chromosomal microarray analysis is remarkably sensitive in detecting abnormalities in individual chromosomes, identifying the source of problems in many cases. The technique improved detection rates by up to 12% compared to traditional methods.
A gene expression profiling test has been shown to correlate with oxygen saturation levels, pressure in the heart before pumping, and electrical properties of the transplanted heart. This test may provide a valuable tool to tailor therapies to meet the specific needs of each heart transplant patient.
Researchers at the University of Iowa have discovered a link between genetic information in white blood cells and mental health conditions like panic disorder. The study found distinct patterns of gene expression in individuals with and without panic disorder, which could lead to new diagnostic tools and therapies.
Researchers at the University of Iowa have developed genetic tests that may help identify individuals at risk of substance abuse and behavioral disorders. The study found differences in gene expression between people with a history of smoking and those without, suggesting potential blood tests for identifying risk factors.
Researchers have developed a new genomic microarray test that accurately identifies the ER and HER-2 status of breast tumors, which can inform personalized treatment planning. The test showed 90% accuracy for both receptors, comparable to existing pathology tests.
The study assessed molecular testing's utility in caring for patients with genetic retinal diseases. Molecular testing confirmed a clinical diagnosis of hereditary disorders in 133 out of 266 diagnostic tests, while also identifying carrier status and ruling out familial mutations in asymptomatic individuals.
Research reveals genetic variation in the DARPP-32 gene linked to improved cognitive performance and increased risk of schizophrenia. The study's findings suggest a possible genetic connection between the protein and frontostriatal brain structure and function.