Articles tagged with Genetic Testing
A genetic testing error led to the misdiagnosis of long QT syndrome in over 20 family members, resulting in one tragic death. The case highlights the importance of accurate interpretation and careful use of genetic testing to avoid such mistakes.
Parents of children with cancer find whole exome sequencing useful for understanding the cause of their child's cancer, relieving guilt and providing reassurance for other family members. The study also highlights the importance of considering broader benefits beyond clinical actionability when deciding to disclose genetic information.
A new genetic testing method, LipidSeq, has been developed to identify a genetic basis for high-cholesterol in almost 70% of targeted patient populations. The method uses next-generation sequencing technology to pinpoint specific areas of a person's DNA and provides a more cost-effective way to diagnose genetic forms of high-cholesterol.
A recent study reveals that blood-based genomic and proteomic testing can rapidly identify genetic mutations in patients with lung cancer, enabling personalized treatment. This approach significantly reduces the wait period between diagnosis and treatment, improving patient outcomes.
Researchers discovered a genetic link between high tryptase levels, multiple copies of the alpha tryptase gene, and a range of symptoms including dizziness, skin flushing, and gastrointestinal issues. The study provides new insights into the cause of this frustrating syndrome and potential strategies for diagnosis and treatment.
Researchers have created a new library of human stem cells with different levels of admixed European, African and Native American genomic ancestry. The cell lines can be used to test drug toxicity and study differential drug response.
A study published in JAMA found that postmortem genetic testing can identify the likely genetic cause of death in cases where it was not determined. The analysis sequenced DNA from deceased individuals and their relatives, discovering mutations linked to sudden cardiac death, pulmonary embolism, and other conditions.
A new study suggests health-care providers support routine testing of colorectal tumors to identify individuals with Lynch Syndrome. However, there is a lack of consensus on whether patients should be allowed to opt out of the test, which could determine their risk of developing cancer.
The Generation Study will enroll over 1,300 cognitively healthy older adults at high risk of developing Alzheimer's due to inherited APOE gene mutations. Researchers will test two investigational treatments: an active immunotherapy and an oral medication to stop amyloid accumulation.
Researchers have linked a neurodevelopmental disorder to a mutation in the SON gene, which plays a crucial role in essential cellular processes. The discovery provides a new diagnostic tool and offers potential treatment options for patients with this condition.
A Harvard Medical School study reveals genetic tests may have disproportionately misdiagnosed hypertrophic cardiomyopathy in black Americans due to racially biased methodologies. The findings highlight the importance of using diverse control populations to ensure accurate test results.
After decades of research, scientists have made significant progress in understanding and treating PCOS, identifying potential biomarkers and developing new diagnostic tests. The review highlights innovative approaches, including genetic testing and hormone analysis, to improve early treatment strategies and prevent long-term complicat...
A new study published in Genetic Testing and Molecular Biomarkers found that analyzing cell-free DNA using next-generation sequencing is more accurate than the current standard approach of Sanger sequencing. This method can detect genetic abnormalities responsible for myelodysplastic syndrome (MDS) with greater sensitivity.
Researchers at University of Pittsburgh Cancer Institute found that tumor sampling techniques used with new breast cancer tests may lead to underestimation of risk. The study suggests that refining the sampling process is crucial to ensure accurate treatment plans for patients with more aggressive tumors.
Researchers discovered that cells from the same lot purchased from a cell bank exhibited vastly different responses to chemicals and had distinct genetic profiles. This finding raises concerns about the reliability of cell culture experiments, which rely on these cells as a foundation.
Researchers identify LOX gene mutations as cause of thoracic aortic aneurysm and dissection in family study, providing biological mechanism and possible therapeutic targets. The discovery illuminates the genetic basis of a rare disease and may lead to improved diagnosis and treatment for patients with this condition.
A new streamlined approach to genetic testing for women with ovarian cancer allows for faster and more affordable testing, enabling personalized cancer management and cancer prevention strategies. The test has been widely adopted in the UK and internationally, with estimates suggesting it could save £2.6M per year.
A study reveals that rapid TB tests in West Africa have low accuracy due to the presence of other mycobacterial species like Mycobacterium africanum. The tests miss a substantial fraction of cases, leading to dire consequences for patients and TB control efforts.
Researchers created a low-cost, portable genetic test for the Zika virus that can detect genetic material and requires no electricity or technical expertise. The test takes about 40 minutes to run and has shown sensitivity equivalent to RT-PCR tests.
National experts recommend steps to integrate genomics into clinical practice, addressing challenges such as interpreting DNA findings, patient education, and sharing data across centers. The recommendations provide guidance for clinicians and patients on how to use genomic testing results in making health care decisions.
The Canadian Coalition for Genetic Fairness (CCGF) and Senator James Cowan will receive the ASHG Advocacy Award for their work on a bill preventing genetic discrimination in Canada. The award recognizes their efforts to pass legislation protecting individuals from genetic testing and discrimination.
A new study from the University of Sydney reveals that nearly half of unexplained sudden cardiac deaths in young people (40%) had a clinically relevant genetic mutation, despite structurally normal hearts. The research also found that limiting strenuous physical activity may not reduce SCD among children and young adults, as most cases...
A new study finds that delivering genetic test results to patients at risk for cancer-causing mutations over the phone reduces costs and access burdens. Patients who received phone counseling reported fewer barriers to accessing genetic counseling services than those who received in-person counseling.
A novel laboratory blood test has shown promise in identifying HELLP syndrome, a life-threatening condition affecting 1% of pregnant women. The test measures levels of components of serum and may help reduce pre-term deliveries and complications for mothers and babies.
A new gene testing technology has been developed to identify mutations and prioritize variants in breast and ovarian cancer genes. The method reveals gene variants that were missed by conventional genetic testing, increasing the number of patients that can be properly diagnosed.
A state-of-the-art molecular genetic test, exome sequencing, has been found to greatly improve the diagnosis of neurogenetic disorders in children and adults. The test can identify disorders that may have gone undiagnosed for years with greater speed and accuracy.
A team led by Professor Fritz Roth found that bakers' yeast can identify harmful genetic mutations more reliably than leading algorithms. By testing the effects of human mutations in yeast, they identified 62% of disease variants as damaging, outperforming computational methods.
A study of over 30,000 women found that genetically elevated maternal body mass index and blood glucose levels are associated with higher offspring birth weight. In contrast, elevated maternal systolic blood pressure is linked to lower birth weight.
Patients with rare disorders are sharing health information through the MyGene2 web tool, which helps researchers and clinicians identify genetic causes. The tool improves diagnosis and treatment options by connecting patients with similar profiles and providing a platform for data analysis.
Researchers linked high C-Reactive Protein levels to increased ischemic stroke risk, identifying gene variations that drive these risks. A new discovery may allow doctors to predict patients' risk of having a second stroke using a commonly performed blood test and their genetic profile.
A clinical study from Mayo Clinic found whole-exome sequencing to be a viable diagnostic approach for identifying rare genetic conditions, resolving diagnostic odysseys and improving patient management. The study reported a success rate of 29%, twice that of conventional genetic evaluations, with insurance coverage existing for the test.
Researchers identified a novel syndrome resulting from multiple genomic lesions in two male siblings with similar phenotypic features. Whole exome sequencing and cytogenetic testing revealed terminal duplications of Chromosome 16q and deletions of Chromosome 5p, which likely contribute to the complex clinical presentation.
Direct-to-consumer genetic testing raises concerns about physicians' preparedness to discuss test results and potential downstream effects on the healthcare system. A study found that only a minority of consumers share their results with their doctor, often due to physician's inability to answer questions and address patient concerns.
A recent study published in Scientific Reports found that consuming dried plums can protect against bone loss caused by ionizing radiation. The researchers tested mice using different interventions and found that dried plum was most effective in reducing the breakdown of bone and preventing spongy bone effects.
Rates of BRCA testing have increased among young women with breast cancer, with 87% reporting testing within a year after diagnosis. The high frequency is attributed to comprehensive genetic counseling services available at cancer centers.
Researchers at Case Western Reserve University have received funding for innovative diagnostic devices targeting three major blood disorders: malaria, cystic fibrosis, and sickle cell anemia. The technologies aim to improve diagnosis speed, accuracy, and accessibility in resource-constrained settings.
The UPMC-developed GlioSeq test provides rapid and accurate profiling of genetic abnormalities in brain tumors, guiding treatment planning. This next-generation sequencing test identifies previously known alterations as well as new molecular markers, enabling personalized management of patients.
Researchers used whole-transcriptome sequencing to screen for blood-borne diseases in wild lemurs and found several strains of parasites similar to those causing Lyme disease. The approach could pave the way for earlier detection of future outbreaks of zoonotic diseases that move between animals and people.
A study found that genes associated with diseases like Alzheimer's, schizophrenia, and autism also impact cognitive functions. Researchers analyzed data from 100,000 people in the UK Biobank to discover shared genetic influences between health and thinking skills.
Recent studies present new data on the myRisk Hereditary Cancer test, highlighting its ability to identify patients with deleterious mutations who may have been missed by traditional genetic testing. The test demonstrated a significant increase in identifying BRCA-related mutations among those tested without BRCA1/2 results.
Researchers at the University of Exeter have created a genetic test to identify young adults at risk of type 1 diabetes. The new tool combines genetic variants to provide a single score, helping doctors diagnose and treat patients more effectively.
A consensus statement by 22 experts rejects the use of genetic testing to spot sporting talent or boost performance in children and young athletes. The limited scientific data on genetics of sports performance is insufficient to support these commercial tests.
A new blood test for prostate cancer significantly improves detection of aggressive cancer, reducing false positives and unnecessary biopsies. The STHLM3 test analyzes protein markers, genetic data, and clinical information to detect cancers in men with low PSA values.
A new blood test has been developed to detect foetal blood group, sex, and genetic conditions in unborn babies with high accuracy. The test is non-invasive and costs a fraction of traditional amniocentesis tests.
QUT scientists have discovered a gene in the Pitjuri plant that allows it to rapidly grow and survive in harsh conditions, including space. This discovery could lead to growing food in space and has implications for future genetic research.
Patients prefer receiving test results through password-protected websites or portals, with non-HIV STI and genetic test results being highly preferred. Only half of participants signed up for available patient portals, highlighting a need for improved doctor-patient communication.
Researchers found that adding a long-acting beta-agonist (LABA) to an inhaled corticosteroid (ICS) did not improve asthma control in black adults, contradicting national treatment recommendations. Genetic variants were also not associated with differential responses to therapy.
A study found that nearly three quarters of doctors surveyed wouldn't refer children with multiple developmental delays to a genetics specialist. This may delay diagnosis and treatment of genetic disorders, which can be treated earlier.
Researchers found that patients whose genomes were sequenced incurred a cost of $719 in follow-up tests and care over the following year, compared to $430 for standard treatment. The study suggests that genome sequencing may offset future costs through prevention or early treatment, but further analysis is needed.
A survey of 282 adolescents aged 12-18 found that most prefer to know secondary genetic findings, even if not medically actionable until adulthood. The main reasons cited were future planning and reducing anxiety, with some respondents expressing concern about introducing stress in their family.
Scientists have created a nematode model using Caenorhabditis elegans to study cardiac arrhythmias. The model uses the nematode's feeding apparatus, which resembles the mammalian heart's muscle cells, to test substances for treating genetic arrhythmias.
A study of commercially insured women found that most did not receive genetic counseling after BRCA testing, with lack of clinician recommendation being the main reason. Women who received counseling had greater knowledge and satisfaction with their test results.
A national study by University of South Florida researchers and Aetna found that only 36.8% of women received genetic counseling before BRCA testing, with Obstetrician/Gynecologists having the lowest rates. Women who received counseling demonstrated greater knowledge and satisfaction.
A new test called ViroCap can detect viruses at low levels and identify variant strains, making it especially useful in situations where diagnosis remains elusive. The test increases sensitivity by 52% compared to standard testing, providing detailed genetic information about viral subtypes.
A new study using competing mice reveals genetic mutations can impair reproduction and territory control, contrary to previous assumptions of redundant gene functions. The mouse barn test provides a sensitive tool for assessing fitness consequences of gene changes in natural environments.
A breakthrough genetic testing method called VirCapSeq-VERT has been developed to detect and sequence viral infections. The platform enables simultaneous testing for hundreds of different viruses and provides near-complete genome sequencing.
Recent advances in genetic testing are providing new insights into pediatric epilepsy, enabling timely diagnosis of potential genetic disorders. This can lead to optimized treatment and reduced costs for families, as well as reduced anxiety associated with unknown cause cases.
The Hastings Center has received a $1.1 million NIH grant to conduct an ethical analysis of next-generation prenatal genetic tests, informing clinical guidelines and policy recommendations. The project aims to identify principles and values guiding the use of these tests, as well as policies needed to support their ethical use.
The European Cardiomyopathy Registry Pilot study found that nearly 60% of patients with arrhythmogenic right ventricular cardiomyopathy received implantable cardioverter-defibrillators, a common yet underutilized treatment strategy. Genetic testing was also widely used, with over half of tests yielding positive results.
A study found that two newer genetic testing technologies can identify genetic mutations potentially linked to autism in children with certain physical anomalies. The findings suggest that medical evaluation of ASD children may help identify populations more likely to achieve a molecular diagnosis.