Articles tagged with Genetic Testing
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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.
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...
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.
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 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.
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.
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 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.
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.
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.
A new blood test identifies 9 RNA markers tied to depression, predicting who will benefit from therapy and providing the first objective, scientific diagnosis. The test also shows biological effects of cognitive behavioral therapy, offering personalized medicine approach to people suffering from depression.
Researchers at Johns Hopkins have identified a highly sensitive means of analyzing tiny amounts of DNA. The new analytical method compares favorably with existing techniques, enabling the detection of small amounts of DNA in samples.
The 2014 Science in Society Award winners, sponsored by the National Association of Science Writers, include Sheri Fink for her book 'Five Days At Memorial' and Amy Harmon for her article 'A Race to Save the Orange'. The awards recognize critical reporting about the sciences and their impact on society.
The myPath Melanoma test differentiates malignant melanoma from benign skin lesions with over 90% accuracy, reducing indeterminate diagnoses by 76%. This improved diagnostic tool also changed treatment recommendations in 35% of cases, supporting its integration into clinical practice.
The new guidelines provide a risk calculator to estimate five-year risk of sudden cardiac death in HCM patients. The guidelines also recommend genetic testing, specialized tests, and multidisciplinary team referrals to improve diagnosis and management.
A new DNA test can identify the exact genetic cause of congenital cataracts in 75% of cases, allowing for earlier treatment and genetic counseling. The targeted next-generation sequencing test has been shown to be effective in diagnosing rare diseases associated with childhood blindness.
Scientists have developed a new gene technique to find disease-causing mutations in patients with brain malformations. The technique uses next-generation sequencing technology to sequence hundreds of copies of genes in a panel of candidate genes, identifying somatic mutations that were previously undetectable.
A study review by María José Martínez-Patiño and others highlights the need for refined policies to protect female athletes from media attention and sex tests. The International Olympic Committee's hyperandrogenism policy is being called into question, with experts advocating for greater equity and inclusivity in sports.
Researchers at Johns Hopkins Medicine have discovered a genetic alteration linked to stress reactions that could lead to suicidal thoughts and behaviors. The study suggests that a blood test based on this finding may be able to identify individuals at increased risk of suicide attempts, allowing for early intervention and prevention.
A study examined the interest level of over 300 African American adults in genetic testing for alcohol dependence susceptibility, with some expressing concern over privacy and testing methods. The results suggest that more research is needed to address these concerns and establish effective genetic counseling strategies.
A new study found that about half of the variation in chimpanzee intelligence can be attributed to genetic factors, shedding light on the cognitive abilities of primates. The research suggests that differences in cognition may have arisen around 5 million years ago in the common ancestor of humans and chimpanzees.
UCLA's David Geffen School of Medicine has received a $7.2 million NIH grant to tackle rare genetic disorders through comprehensive bedside-to-bench clinical research. The program aims to provide answers to patients living with undiagnosed diseases by analyzing patients' genomes and identifying environmental factors that lead to disease.
A new study reveals that gene expression profiling tests, such as Oncotype Dx, have a heightened perceived value among patients with early breast cancer due to access barriers. The carefully administered technology has led to unintended consequences like gatekeeping and perceived inequalities in access.
A team of researchers from Kansas State University has created a new molecular assay to detect and quantify major genes specific for E. coli O157 in cattle feces. This test can be used in diagnostic or research laboratories to accurately detect E. coli and help with quality control in cattle facilities.
A new study found that women with breast cancer who test positive for BRCA mutations are more likely to change their surgical plan, typically opting for a double mastectomy and sometimes ovary removal. Genetic testing before surgery can significantly impact treatment decisions, but may not necessarily delay surgery.
A new Moffitt Cancer Center study found that patients who received pre-test genetic counseling were more likely to recall having a discussion with their healthcare provider, suggesting improved quality of care. The study also showed that genetic health care providers ordered less expensive testing in cases where it was appropriate.
A new diagnostic tool, combining data from multiple sources, can help clinicians diagnose Alzheimer's disease, frontotemporal dementia, and mild cognitive impairment with a Disease State Index. The tool also provides a visual representation of the findings in a Disease State Fingerprint.
The Endocrine Society recommends blood and urine tests for metanephrines to identify patients with pheochromocytomas and paragangliomas, which can cause high blood pressure and cardiovascular disease. Genetic testing is also recommended for family members at risk, based on a shared decision-making process with physicians.
The Myriad myPath Melanoma test accurately differentiates malignant melanoma from benign skin lesions with a sensitivity of 90% and specificity of 91%. This improves the standard of care for patients with melanoma, enabling healthcare providers to deliver more objective and confident diagnoses.
A study found that genetic alterations in lung cancer tumors can help select targeted treatments, resulting in improved survival rates for patients. The researchers identified actionable oncogenic drivers in 64% of patients and used this data to guide treatment decisions.
A recent study found that large panel genetic testing for breast cancer mutations yields limited results, with only 2.5% of patients having clinically actionable mutations. The test revealed reportable variants in over 30% of patients, leaving clinicians struggling to interpret the findings and provide accurate guidance.
A blood test has been developed to predict impending preterm birth, distinguishing between true and false labor in 70% of cases. The new test outperforms existing methods by using a set of nine genes coupled with clinical data, allowing for all women to be screened as part of routine blood work.
Researchers discovered that people with a variant of the longevity gene KLOTHO have improved brain skills, such as thinking and learning, which decreases with age. Increasing KLOTHO levels in mice may boost cognitive abilities by strengthening connections between nerve cells.
Researchers at UNIGE identified a mutation in the HHAT gene, which plays a key role in embryonic development and affects sexual development, growth, and skeletal development. The study provides new insights into Hedgehog signaling and has implications for genetic testing and treatment of patients with disorders of sex development.
A new study published in Pediatrics finds that patients' degree of acceptance of genetic testing and gene-based drug dosing depends on their knowledge of these concepts. The researchers surveyed over 1,500 participants and found that those with higher knowledge levels were more open to the idea.