Articles tagged with Genetic Testing
Researchers have identified a genetic marker that can improve the predictability of warfarin dosing in African Americans, with potential benefits for patient safety. The study found that individuals carrying a specific polymorphism may require lower doses of the blood-thinning medication.
A large multi-generational family study has identified a genetic mutation that increases the risk of developmental dysplasia of the hip (DDH). The researchers found a common variant co-inherited by all affected family members, which may affect cartilage formation and delay development.
A large scientific study has discovered two new genes associated with severe seizure disorders in infants and children. The finding will lead to new tests to diagnose these conditions and promises to improve outcomes for affected families.
A pan-European study found that certain signs of motor disorders can appear years before the actual disease manifests. The researchers detected these signs using a mathematical model and extensive tests, including standardized tests of muscular coordination and magnetic resonance imaging.
A new paper in Science pushes back against recent recommendations from the American College of Medical Genetics and Genomics, arguing that returning genetic incidental findings without patient consent violates basic human rights. The authors urge patients' autonomy to remain firmly in place as science advances.
The University of Maryland Medical Center is now offering genetic testing to help doctors determine the best medication for each patient, based on their unique genetic makeup. This personalized medicine initiative aims to improve the quality of care provided to cardiac patients.
A nationwide study will examine the influence of genetic testing on clinical treatment decisions among breast cancer patients and their doctors. The 5-year American BRCA Outcomes Among the Recently Diagnosed (ABOARD) study will follow 5,000 Aetna members and provide critical information to improve personalized health care.
A new study from Northwestern University suggests that personalized PSA testing can help reduce the number of men who undergo unnecessary biopsies. Genetic correction of PSA levels using genetic variants has been shown to change the outcome for 17 men, and could potentially prevent 15-20% of prostate biopsies annually.
A study found that only 53% of newly diagnosed breast cancer patients who were at high risk of carrying a BRCA 1 or BRCA 2 mutation received a recommendation for genetic testing. Women who were older, had lower income, and were employed were less likely to receive the recommendation.
Researchers identified frequent patient-to-patient transmission of multidrug-resistant M abscessus subspecies massiliense despite strict infection control measures. Whole genome sequencing and antimicrobial susceptibility testing revealed clusters of genetically identical strains, suggesting widespread cross-infection.
PhenoDB is a new online database that enables clinicians to document cases of unusual genetic diseases, which can then be analyzed by researchers. The database captures standardized information about a person's phenotype, including symptoms and family history, to help understand the genetic variations involved.
Researchers validate resveratrol's direct activation of SIRT1, a protein promoting health and longevity. The study suggests potent drugs may treat and prevent age-related diseases.
A genetic mutation causing Pompe disease has been found in both humans and dogs. A genetic test can now diagnose canine Pompe disease, allowing for the identification of affected individuals and their breeding lines. This breakthrough could lead to improved treatment options and disease management.
Researchers identified a protective effect of excessive threat vigilance on PTSD development in infantry soldiers during combat deployment. The study found that genetic variations in the serotonin transporter gene were associated with this behavior, which can be trained through attention bias modification to reduce PTSD risk.
The novel TP PCR test yields accurate results without unnecessary additional testing, improving diagnosis and prognosis by accurately sizing the genetic abnormality characteristic of HD. The test correctly sized 240 of 246 samples, including those with a wide range of CAG repeats.
A study published in PLOS Medicine found that whole genome sequencing is more effective at tracing TB outbreaks than standard genotyping tests. The new test revealed that first outbreak isolates were falsely clustered by classical genotyping, providing valuable insights into the evolution of M. tuberculosis.
A study found that genetic testing revealed high-risk mutations in individuals but prompted them to take positive steps, including follow-up visits with a doctor and discussions with family members. The test results also led to a 'cascade effect' where relatives were subsequently tested and discovered they too had the mutation.
Researchers at Joslin Diabetes Center have successfully generated human induced pluripotent stem cells (hiPSCs) from patients with maturity onset diabetes of the young (MODY), a rare form of diabetes. The hiPSCs offer a powerful tool for studying the genetic mechanisms underlying MODY and testing potential treatments.
Researchers identified 24 new copy number variants with strong links to autism, providing potential genetic diagnosis for up to 10-12% of children with ASD. The study validates the genetic markers used in a commercial test, advancing early detection and treatment methods.
A five-year NIH grant supports a program to develop resident genomic pathology curriculum, expanding pathologists' role in interpreting and acting on genomics data. The initiative aims to bridge the gap between genetic research and practical application in patient care.
Researchers have discovered a rapid and reliable test using next-generation real-time PCR systems to detect Shiga toxin-producing E. coli in ground beef. This new method is expected to increase food safety by providing faster, easier, and more reproducible results.
Researchers at the Kimmel Cancer Center at Jefferson developed diagnostic and prognostic genetic tests to better predict prostate cancer survival outcomes. The tests distinguish clinically-relevant cancers from normal prostate tissue in men with elevated PSA levels, offering a superior alternative to existing gene tests and the Gleason...
Researchers have developed a novel method for screening ALK fusions in non-small cell lung carcinoma (NSCLC) that is sensitive, specific, and economical. The new test offers a high-throughput and cost-effective screening modality compared to existing tests.
A new microarray analysis has proven 40% more effective in identifying genetic causes of stillbirth than traditional karyotyping testing. The study, conducted by researchers at the University of Texas Medical Branch, provides strikingly more information for families seeking closure.
A genetic variation in the vitamin D receptor has been linked to a decreased risk of developing osteoporosis, according to a meta-analysis of 26 studies. The study suggests that individuals with this variation may have a significantly lower risk of bone mineral density loss.
Research suggests that perfect pitch is associated with a large memory span for speech sounds, facilitating early associations between pitches and spoken languages. Musically trained individuals from non-tonal languages can acquire absolute pitch, but it remains a rare talent.
A new genetic test has been developed to predict which patients with heart failure will respond best to the beta-blocker drug bucindolol. The test, based on two specific genes, analyzes a small blood sample and can identify individuals who are likely to benefit from the treatment.
A new study by 23andMe finds that combining family history with genetic testing provides the most accurate predictions for complex diseases. For highly common conditions like coronary artery disease, family history is essential, while genetic tests offer more value for less common diseases.
Researchers identified a genetic signature that distinguishes patients with complicated sarcoidosis from those with a more benign form. The 20-gene pattern can be used to identify patients at risk of serious complications and potentially life-threatening disease.
A new study has documented the experiences of women receiving abnormal prenatal chromosomal microarray testing results, revealing a range of negative reactions. The research highlights the importance of providing emotional support and nuanced counseling to help parents navigate the ambiguities of genetic testing.
Scientists have discovered a way to screen people for Mad Cow disease using a simple blood test, which could help boost critical blood stocks. The breakthrough involves recognizing specific 'signature genes' in the blood stream.
A new genetic test developed by University of Melbourne researchers can predict the risk of developing Autism Spectrum Disorder (ASD) with over 70% accuracy in people of central European descent. The test identifies genetic markers that either contribute to or protect an individual from developing ASD, allowing for early interventions ...
A recent study found that Magellanic penguins' high genetic variation in the MHC genome region is maintained by balancing selection, which favors heterozygous individuals with increased fitness. The study tested whether mate choice or genetic selection based on disease exposure drives this diversity.
A novel blood test can predict which heart failure patients are at risk of sudden death and may benefit from implantable cardioverter defibrillators (ICDs). The test measures changes in the SCN5A gene, which is involved in electrical activity in the heart.
Researchers at Ruhr-University Bochum found that acute stress increases DNA methylation of the oxytocin receptor gene, leading to excessive receptor production. This change may contribute to the development of chronic diseases such as cancer or depression.
The widespread adoption of prenatal whole genome sequencing could lead to increased anxiety in parents, altering societal views on normalcy and potentially influencing reproductive decisions. Additionally, the technology may impact child-rearing practices and the interests of children themselves.
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.
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 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.
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.