Articles tagged with Genetic Testing
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.
The study found that copy number variant (CNV) genetic testing can help diagnose and treat autism more effectively. CNV testing uncovered dozens of cases where autism-linked gene changes were associated with additional health risks warranting medical attention.
Researchers have identified a new genetic brain disorder associated with degeneration of the central and peripheral nervous systems, caused by a mutation in the CLP1 gene. The condition is characterized by reduced brain size, sensory and motor defects, seizures, brain atrophy, and neuronal death.
Researchers developed a genetic signature to identify men at high risk of prostate cancer recurrence after surgery or radiotherapy. The test uses DNA analysis from biopsy tissue and shows promise in predicting treatment failure with close to 80% accuracy.
Researchers develop genetically engineered mice with inherited brachyury gene change to study chordoma development. The mice will be made available to scientists through The Jackson Laboratory's repository.
Researchers at Dartmouth's Norris Cotton Cancer Center have compiled a review of genetic-based testing in breast cancer diagnosis and treatment. Genomic testing enables personalized therapy, increasing precision and success rates for patients.
Researchers found a rare hereditary syndrome associated with a 31% risk of disease in never-smokers carrying the germline EGFR T790M mutation. The study highlights the need for increased surveillance and screening for affected carriers, regardless of smoking status.
The Milieu Interieur Project characterizes healthy human immune responses using TruCulture technology, a proprietary blood collection system. The study reveals unique patterns of immune responses to complex stimuli, shedding light on genetic and environmental causes of immune variations.
A new non-invasive genetic test detected 92% of colon cancer cases, outperforming a traditional fecal immunochemical test in asymptomatic participants. The test's high sensitivity could lead to increased screening rates and reduced deaths from colorectal cancer.
A team of researchers from Ben-Gurion University has identified a severe genetic disease affecting Moroccan Jews, characterized by brain atrophy and mental retardation. The disease, PCCA2, is caused by two mutations in the VPS53 gene and can be eradicated through carrier testing.
A new study led by the University of South Florida found that molecular subtyping can better identify women at high risk of recurrence. The method classifies breast cancer tumors into four genetically-distinct categories, providing valuable information for personalized treatment decisions.
A new software system, XMLMATE, uses genetic algorithms to detect software errors, covering almost twice as many fatal errors as similar test methods. The system can be applied to various programming languages and applications, including computer networks, websites, and operating systems.
The PROCEDE 500 study demonstrates that the Prolaris test provides personalized risk assessment for prostate cancer patients, leading to significant changes in treatment plans. The study found a 50% reduction in surgical interventions and a 30% reduction in radiation treatment.
The 'Viewpoint' article highlights the complexity of developing genome-based therapeutics and companion diagnostics, which depend on multiple genetic tests. The authors argue for a unified plan to co-develop and co-submit diagnostic tests that predict drug benefit, addressing regulatory, business, and economic challenges.
A phase II clinical trial found creatine safe and well-tolerated by most participants, with neuroimaging showing a treatment-associated slowing of regional brain atrophy. The study also enrolled participants without knowing their genetic status, allowing them to participate while respecting their autonomy.
A panel of 35 genetically characterized DNA samples is now publicly available to help standardize Rett syndrome testing and improve diagnostic accuracy. The collection contains a wide variety of MECP2 mutations associated with most cases of the disorder.
A national poll shows that only 35% of respondents would seek aggressive preventive treatment if they had a family history of cancer and genetic testing indicated a predisposition to cancer. Despite current laws prohibiting discrimination, concerns about employment and insurability remain a major barrier to genetic testing.
Researchers used preimplantation genetic diagnosis (PGD) to identify mutation-free embryos and conceive healthy twins after a woman was diagnosed with a fatal genetic disorder. The treatment allowed for selective implantation of two mutation-free embryos, resulting in the birth of healthy twins.
The PROCEDE 500 clinical utility study demonstrates the significant clinical value of Prolaris to physicians treating men with prostate cancer. The test accurately predicts prostate cancer-specific death and metastases, guiding treatment decisions and reducing therapeutic burden on patients.
Researchers at USC identify a gene that delays aging effects depending on dietary intake, suggesting a genetic basis for individual nutritional needs. This breakthrough may lead to tailored diets based on an individual's genetic makeup, potentially enhancing overall health and longevity.
A new study published in the Journal of Clinical Oncology found that telephone genetic counseling is comparable to in-person counseling. The study, led by Georgetown University Medical Center, involved 669 women and showed that phone counseling reduces costs and expands access to genetic testing for rural areas.
Researchers have created a test called MACRO that can flag about 97% of known commercialized modifications, making it easier for policymakers to monitor genetically modified (GM) foods. The new method combines two well-known genetic methods and can be easily expanded to include future GM crops.
Scientists at MD Anderson Cancer Center discovered that exosomes, tiny particles shed by cancer cells, contain the entire genetic blueprint of cancer cells. This finding could lead to a blood test that detects cancer gene defects and helps physicians treat patients earlier.
Researchers at The Feinstein Institute for Medical Research have discovered a genetic overlap between schizophrenia and general cognitive ability. This finding provides molecular confirmation of the overlap, revealing that patients with schizophrenia also experience reduced cognitive abilities.
A Fox Chase Cancer Center study found that relatives of patients who undergo genetic testing often misinterpret the results, with over one-quarter reporting incorrect interpretations. This can lead to a lack of understanding about their own genetic risks and missed opportunities for cancer prevention.
A new disease related to NKH has been discovered through genetic research led by University of Colorado professor Johan Van Hove. The variant, also known as non-ketotic hyperglycinaemia, shares similar symptoms with NKH and was found in eight patients from around the world.
A brain reward gene variant has been linked to childhood obesity and tasty food choices, especially in girls, according to a new study. The genetic predisposition combines with environmental stress and emotional well-being to drive consumption of foods that promote obesity.
A national survey of pediatricians found that many order few genetic tests, don't discuss risks and benefits, and take limited family histories. The study highlights the need for robust education, access to resources, and improved electronic health records systems to enhance integration of genetic medicine into routine primary care.
A new gene therapy has shown promising results in reversing heart failure by delivering the SUMO-1 gene directly to the heart. In preclinical testing, the therapy improved cardiac function, reduced heart volumes, and enhanced blood flow compared to other treatments.
A new study finds that 65% of Americans agree clinicians should be involved in explaining DTC genetic test results. This concern is shared by physician groups and medical journals, highlighting the importance of doctor guidance on interpreting genetic risks.
Researchers used a genomic sequencing approach to evaluate all 24 genes implicated in breast cancer in women with normal BRCA genes. The study found that over 25% of these patients carried cancer-predisposing mutations in genes other than BRCA1 or BRCA2.
A study led by a CU School of Medicine researcher has confirmed the Gene Expression Classifier (GEC) test can accurately identify benign thyroid nodules, significantly reducing the need for unnecessary surgeries. The test was found to have a very high negative predictive value, with only one nodule out of 71 identified as cancerous.