Genetic Testing
Articles tagged with Genetic Testing
National study examines genetic testing to inform follow-up care for cancer survivors
Alliance for Clinical Trials in Oncology supports April Head and Neck Awareness Month
The Alliance for Clinical Trials in Oncology has several active trials specifically designed to help people with head and neck cancers. Trials include testing high-dose prophylactic gabapentin to prevent opioid use during treatment, as well as immunotherapy with nivolumab and cabozantinib for mucosal melanoma and nasopharyngeal carcino...
Researchers identify new genetic disease that interferes with brain development
Scientists have discovered a new rare genetic disease caused by a mutation in the RPN1 gene, which affects glycosylation and leads to protein instability. The disease, now termed RPN1-CDG, is characterized by neurodevelopmental issues and has expanded the number of genes associated with OST complex diseases.
Alliance marks Adolescent and Young Adult Cancer Awareness Week
The Alliance for Clinical Trials in Oncology is enrolling adolescent and young adult cancer patients in various trials, including genetic services and treatment studies. These trials aim to address longstanding gaps in care and improve outcomes for AYAs with cancer.
Researchers identify blood-based biomarker for cancer risk in people with Lynch Syndrome
A new blood-based biomarker has been discovered to help identify individuals at higher risk of developing cancer in people with Lynch Syndrome. The biomarker uses immune signatures detected in blood samples to provide unique characteristics that can detect cancer risk, allowing for early detection and personalized surveillance.
Markers of lymphoma cancer relapse identified
A new study from the University of Missouri identified over 10 genetic or molecular markers that predict follicular lymphoma relapse early, allowing for targeted surveillance testing. This could improve patient outcomes, reduce unnecessary imaging tests, and lower healthcare costs.
An online intervention can help cancer patients share genetic testing results with family
A web-based platform, GIFT, educates people with cancer about the impact of genetic variants on their family. The tool allows patients to invite relatives and provides information, decision support, and access to genetic testing.
Optical genome mapping detects additional genetic variants in nearly 20% of individuals with acute leukemia
A new clinical diagnostic test using optical genome mapping (OGM) has been shown to detect additional genetic variants in nearly 20% of individuals with acute leukemia. OGM offers a comprehensive view of the genome, refining diagnosis and risk stratification, and improving therapy selection. The test's high diagnostic yield and ability...
Analysis of ancient parrot DNA reveals sophisticated, long-distance animal trade network that pre-dates the Inca Empire
A study analyzing ancient parrot DNA has uncovered a thriving pre-Inca trade network that connected Amazonian forests with arid communities across the Andes. The research shows that parrots were transported alive across the Andes, over 500 kilometers, to be used in coastal ritual contexts.
Study finds shared genetic roots of MS across diverse ancestries
A new study reveals that people of South Asian, African, and European ancestry share common genetic risk factors for multiple sclerosis, despite historic lack of representation in research. The study highlights the importance of diverse representation in research to improve understanding of the disease and develop effective treatments.
New trial seeks to improve sharing of genetic colorectal cancer risks
A new clinical study aims to improve communication between patients and families about genetic risks of colorectal cancer. The trial will compare two methods of sharing genetic test results with close relatives, with the goal of learning which approach helps more family members get necessary genetic testing.
Telehealth improves access to genetic services for adult survivors of childhood cancers
A recent clinical trial found that remote telehealth services increased the uptake of genetic counseling and testing in adult survivors of childhood cancers. The study showed a significant impact on reducing morbidity and mortality by driving earlier detection of subsequent cancer.
Pediatric investigation review highlights the future of newborn screening with next-generation sequencing
The use of next-generation sequencing in newborn screening can detect a wide range of genetic disorders, some of which are not currently testable through traditional means. This approach enables earlier disease detection and long-term health planning.
Study: Major gaps block genetics evaluation and testing for Black and low income patients
A new study reveals significant gaps in genetic evaluation and testing for Black and low-income patients, despite higher rates of testing after receiving results. Researchers call for expanded workforce training, diversification, and policy changes to build equitable systems.
BGI Genomics marks 15 years with 2025 European Partnership Summit in Budapest
BGI Genomics convened its 2025 European Partnership & Networking Summit in Budapest, fostering innovation, collaboration, and growth. The event introduced its comprehensive NGS solution, Gensiro, integrating AI and automation to streamline laboratory workflows.
Researchers develop models to help diagnose ALS earlier through blood biomarkers
Scientists at Michigan Medicine have developed machine learning models that can analyze blood samples for biomarkers to detect ALS earlier and predict disease severity. The models show promising results, with predictions accurate up to 91% in some cases, and could lead to improved diagnostic accuracy and treatment options.
Treating adults with autism: Maryland Clinical Center offers national blueprint for care after pediatric transition
A new report from the University of Maryland School of Medicine presents a five-year data model demonstrating how a state-funded, multidisciplinary care approach can improve health outcomes and quality of life for adults with autism spectrum disorder (ASD) and other neurodevelopmental disorders. The study found that this model can serv...
Most people with a genetic condition that causes significantly high cholesterol go undiagnosed, Mayo Clinic study finds
A Mayo Clinic study found that nearly 90% of people with the inherited condition familial hypercholesterolemia would not have been flagged for standard genetic testing. This condition can cause dangerously high cholesterol and early heart disease, making it highly treatable yet often undiagnosed.
Simple test brings clarity and hope for families with inherited neuropathy
A new urine test can detect SORD deficiency, a common cause of inherited nerve disease, earlier and more cheaply than genetic tests. The test has brought understanding and access to care for affected families, particularly in the Old Order Amish community.
New genetic test targets elusive cause of rare movement disorder
Scientists have developed a targeted genetic test to improve diagnosis for X-linked dystonia-parkinsonism, a rare and disabling movement disorder that affects primarily men of Filipino ancestry. The test correctly identified cases that routine sequencing methods have missed, leading to proper diagnoses and end diagnostic odysseys.
AMP 2025 press materials available
Researchers are presenting groundbreaking findings at the Association for Molecular Pathology's annual meeting, including a novel technique to study ancient DNA and rapid detection of serious fungal pathogens. The Association for Molecular Pathology is providing press materials and resources for media coverage.
New research in blood cancer diagnostics to be featured at AMP 2025
Researchers have made significant advancements in diagnosing acute myeloid leukemia (AML), a common and aggressive form of blood cancer. Genetic testing can now predict relapse after stem cell transplant and detect hidden gene fusions that were previously undetectable.
Brain tumor patients miss out on new treatments due to unequal access to tumor freezing and genetic testing, study warns
A recent UK study has highlighted the need for equitable investment and adoption of new innovations in brain tumor care. The research team found that genomic testing has expanded rapidly but many services are struggling to keep pace, leading to regional inequalities in access to advanced treatments.
Genetic testing trifecta predicts risk of sudden cardiac death and arrhythmia
A new genetic risk score combines rare and common gene variants with non-coding genome information to predict arrhythmia risk. This comprehensive framework can be applied to other genetically influenced diseases like cancer and Parkinson's Disease.
Fibroblasts: Hidden drivers of heart failure progression
Researchers discovered that cardiac fibroblasts use a signaling pathway to promote harmful changes in the heart, weakening its ability to pump blood efficiently. Blocking this pathway in mice models improved heart function, suggesting that fibroblasts could be a potential target for new therapeutic strategies.
New genomic test could spare some people with melanoma from lymph node biopsy surgery
A new genomic test can identify people with melanoma as being at low or high risk of cancer spreading to their lymph nodes. The test uses gene expression profiles from a tumor sample, eliminating the need for additional biopsies, and may help guide treatment decisions.
Association for Molecular Pathology develops standardized biomarker report template for providers
The Association for Molecular Pathology has created a standardized biomarker report template to simplify complex molecular profiling data presentation to oncologists and healthcare providers. The template includes guidelines for clear formatting, therapeutic guidance, and references to clinical practice guidelines.
Texas Children’s researchers create groundbreaking tool to improve accuracy of genetic testing
Researchers created a new tool using local ancestry inference (LAI) to provide more accurate insights into genetic differences. The tool reveals that many rare variants are common in specific ancestry segments, leading to more accurate diagnoses and reclassifications of genetic variants.
Genetic map reveals influence of DNA on metabolism
A new study has created the largest genetic map of human metabolism, revealing key genes controlling metabolites and their impact on health. The research highlights similarities in genetic control across ancestries and sexes, offering new avenues for developing medicines to prevent heart diseases.
Genetic test can predict who could develop invasive breast cancer
Researchers at King's College London have developed a genetic test that can predict which women with abnormal breast cells are most likely to develop invasive breast cancer. The test uses a genetic risk score to estimate a person's inherited likelihood of developing the disease, allowing for more personalized treatment options.
Can digital health tools help younger cancer survivors better predict future health risks?
A groundbreaking study aims to improve genetic services for adolescent and young adult (AYA) cancer survivors by integrating digital tools and chatbot technology. Participants will receive tailored communication, digital education tools, and genetic testing, with the goal of increasing uptake of genetic counseling and testing.
Multi-omics machine learning can detect ALS 10 years before symptom appears
Researchers identified 33 plasma proteins that differ significantly in patients with ALS, suggesting the disease could be detected up to 10 years before symptoms appear. Machine learning models showed strong performance in separating ALS cases from non-ALS cases, with an accuracy of over 98.3%.
Landmark genetic study sheds new light on how the eye develops its sharpest vision
Researchers have identified over 120 genetic signals shaping foveal development, including pathways involved in vitamin A metabolism and retinal cell fate. The study provides the first comprehensive genetic dissection of human foveal pit architecture, revealing new insights into childhood visual disorders.
Genetic test predicts response to weight-loss drugs
Mayo Clinic researchers developed a genetic test that can predict how people will respond to weight loss medications. The test estimates an individual's calories to satiation, linking it to treatment success and providing personalized estimates of expected satiation threshold.
Precision in the pancreas: New test transforms hereditary pancreatitis diagnosis and care
A new genetic test developed at Mayo Clinic is redefining how clinicians diagnose and manage hereditary pancreatitis. The test includes nine genes and uses whole exome sequencing to analyze coding regions, providing comprehensive analysis of disease-causing genes.
Giant DNA discovered hiding in your mouth
Scientists have identified a new genetic material called Inocles, which are large DNA elements hosted by bacteria in the mouth. These findings provide fresh insight into how oral bacteria colonize and persist in humans, with potential implications for health and disease research.
China's national-scale genomics study established new rare disease diagnosis framework
A landmark study in China has established a new diagnosis framework for rare diseases, improving the diagnostic rate from 29.58% to 39%. The study analyzed genetic data from 42,703 families and identified regional differences and genetic hotspots.
Multi-omics AI model boosts preterm birth prediction accuracy to nearly 90%
A recent study developed a highly accurate risk prediction framework for preterm birth using genomics, transcriptomics, and large language models. The model achieved an AUC of nearly 90%, making it the most powerful approach in predicting preterm birth.
From the lab to the hand: nanodevice brings personalized genomics closer to reality
Researchers at The University of Osaka have developed a novel technology to unzip DNA's double helix structure, allowing for efficient and accurate genetic testing. The device uses a nano-sized platinum coil and precise heating to minimize DNA damage and read information from the DNA molecule.
University of Oklahoma researcher makes breakthrough discovery about Friedreich’s ataxia genetic defect
A University of Oklahoma researcher has made a breakthrough discovery about Friedreich’s ataxia genetic defect, revealing that the sequence isn’t always uniform as previously thought. This finding could lead to changes in diagnosis and treatment, including a milder version of the disease with slower progression.
UC Davis experts call for greater physician awareness and screening of fragile X-related conditions
Researchers at UC Davis MIND Institute recommend testing for specific groups, citing inadequate recognition by healthcare providers. The group of genetic conditions affects learning, development, and behavior, with millions of people unaware they carry the premutation.
Genetic testing beneficial in critically ill adults
A study of 365 adults found nearly one in four had a genetic condition causing their ICU admission, which was unknown to nearly half of those patients and their doctors. The researchers recommend offering genetic testing to all adults admitted to the ICU to improve care and reduce health disparities.
Molecular arms race: How the genome defends itself against internal enemies
Researchers discovered how the genome uses competition between proteins to prevent rogue retrotransposon LINE1 from causing damage. The team found that a modified protein NRBP2 marks and disposes of another protein NRBP1, which is no longer functional due to mutations.
Pharmacogenomics expert advances precision medicine for bipolar disorder
Dr. Mirko Manchia's groundbreaking research identifies genetic markers predicting treatment response in bipolar patients, enabling precision medicine approaches to transform psychiatric care. He envisions a future where genetic testing becomes routine in psychiatric care.
Genetic testing for children with autism and intellectual disabilities remains rare in Medicaid, despite national guidelines
Despite clinical recommendations, genetic testing is underutilized among Medicaid-enrolled children with autism spectrum disorder and intellectual disability. The study found stark racial disparities, with Black children less likely to receive genetic testing than their white peers.
Global study uncovers genetic risk factors for Alzheimer’s Disease across populations
A new international study identified two distinct genetic signatures for complex forms of Alzheimer's disease, with one primarily driven by apolipoprotein E and the other involving a combination of 75 additional genetic variants. This shared biological mechanism is largely consistent across global populations.
National UCD Foundation to build network, create roadmap for future research in urea cycle disorders
The National Urea Cycle Disorders Foundation is establishing a multistakeholder Partner Network to guide health care decisions and build a sustainable infrastructure for UCD research. The project aims to empower the broad UCD community to work together effectively, identify research needs, and create a roadmap for future studies.
Zebrafish model for an ultra-rare genetic disease identifies potential treatments
Researchers created a zebrafish model of XMEA, an ultra-rare genetic disease that progressively weakens muscles. The study found that two compounds improved symptoms in the zebrafish, and autophagy antagonists showed promise for treating the disease.
New AI tool reveals single-cell structure of chromosomes — in 3D
A new AI tool developed by University of Missouri researchers can predict the 3D shape of chromosomes inside individual cells, providing a new view of how genes work. The tool helps identify unique differences in chromosome folding between cells, which controls gene activity and can lead to diseases like cancer.
Team publishes correspondence article reevaluating ‘seriousness’ in genetic conditions
A survey of stakeholders in Japan found that incorporating patient voices into assessments of genetic conditions can recalibrate people's ideas about seriousness, shifting perceptions from a tool of societal burden reduction to individual reproductive autonomy. The study emphasizes the need for including patient voices in shaping ethic...
BeginNGS® Consortium announces Alexion, AstraZeneca Rare Disease as its first Platinum member
The BeginNGS Consortium has welcomed Alexion, AstraZeneca Rare Disease as its first Platinum member, furthering the development of genome-informed healthcare delivery. This partnership aims to implement BeginNGS for 1,000 diseases in at least 10 countries by 2030.
Long-term survival rates of some Acute Myeloid Leukaemia patients could double with sensitive bone marrow test
A highly sensitive bone marrow test has shown to double survival rates for patients with AML mutations in NPM1 and FLT3 genes, allowing for early detection of potential relapse. This trial indicates that regular molecular testing can improve long-term survival rates by restarting treatment earlier.
UMass Amherst tick researchers identify new strain of rickettsia bacteria that causes spotted fever infections in humans
Researchers at UMass Amherst's New England Center of Excellence in Vector-borne Diseases have identified a new strain of Rickettsia bacteria that causes spotted fever infections in humans. The discovery in Maine suggests rabbit ticks could be a zoonotic vector for serious infections, contradicting the usual dog tick vector.
Shining a light on DNA: a rapid, ultra-sensitive, PCR-free detection method
A new method for DNA detection uses heterogeneous probe particles and laser light to accelerate genetic analysis. This PCR-free technique offers greater sensitivity and speed than traditional methods, making it more accessible for medical, environmental, and personal health applications.
Rise in claim denial rates for cancer-related advanced genetic testing
Researchers at Georgetown University found that claim denials for cancer-related advanced genetic testing increased between 2016 and 2021, despite a recent Medicare national coverage determination. The study analyzed nearly 30,000 claims filed by over 25,000 unique Medicare beneficiaries and suggests uncertainty remains around coverage...
New study reveals potential link between GLP1 agonists and depression: Calls for urgent attention
A recent study published in Current Neuropharmacology suggests a potential link between Glucagon-like Peptide-1 (GLP1) receptor agonists and depression, particularly in individuals with low dopamine function. The authors urge caution and recommend genetic testing to identify individuals at risk before prescribing these medications.
Preterm birth might be predicted with high accuracy with new cheap, non-invasive test, based on cell-free DNA collected in standard early pregnancy testing
Researchers developed a low-cost, non-invasive test that uses cell-free DNA to predict preterm birth with high accuracy. The test has shown promising results in a case-control study.
Cutting-edge optical genome mapping technology shows promise for diagnosis, prognosis, and therapeutic options of multiple myeloma
Researchers have developed an innovative optical genome mapping technique that can identify structural variants and copy number variations across the entire genome in a single test. The method has been shown to reduce material requirements and improve prognostic stratification for patients with multiple myeloma.
NAT10 primes a post-transcriptional repertoire essential for the maintenance of spermatogonial homeostasis
This study reveals NAT10 is crucial for spermatogonial proliferation and differentiation. In Nat10-deficient mice, infertility occurs with reduced testicular sizes, germ cell depletion, and a loss of spermatogonial homeostasis.