Articles tagged with Genetic Screening
Researchers have developed a machine learning model that can help clinicians assess uncertain variants in prenatal genetic testing, providing more accurate diagnoses and clearer information for families. The approach uses tissue-agnostic episignatures to overcome limitations in epigenetic testing.
A new study from MUSC suggests that combining flexible testing options and community partnerships can bring populationwide genomic screening to rural and socially vulnerable communities. Over 50,000 adults have completed screening through In Our DNA SC, a program that has reached participants in all 46 South Carolina counties.
Researchers have developed a new tool to screen genes involved in human development at unprecedented scale and speed. The method, using organoids from human pluripotent stem cells, revealed new insights into human brain development, including the role of ZIC2, SOX11, and ZNF521 genes.
Researchers emphasize the need for large-scale population studies to assess the risks of newborn genome screening and minimize overdiagnosis. The study highlights that most genetic research has been conducted in individuals with a condition or high-risk family, resulting in underestimated risk estimates.
PrecizionIQ is a health technology startup using high-resolution mass spectrometry and AI to detect chromosomal abnormalities in early pregnancy. The company aims to make prenatal testing more accurate, affordable, and accessible.
Researchers developed a novel algorithm, FUSILLI, to detect gene fusions in B-cell acute lymphoblastic leukemia (B-ALL) using long-read RNA sequencing data. The tool achieves higher diagnostic yield from low-coverage, low-cost sequencing, enabling faster and more accurate diagnosis of pediatric cancer.
Children with high genetic susceptibility to schizophrenia show decreases in frontal cortical surface area during early adolescence, contrasting with regional expansion in those with low genetic susceptibility. This suggests neurodevelopmental deviations prior to symptom onset.
A national UK study found that nearly half of untested breast and ovarian cancer patients carry a heritable genetic variant increasing cancer risk. The study reveals the potential benefits of efficient genetic testing to identify at-risk individuals and inform targeted follow-up care.
The study demonstrates that the T1GRS tool can identify children and adults at high risk for Type 1 diabetes earlier than current methods, enabling preventive measures before the disease develops. The researchers grouped individuals into four sub-types based on genetic features, each with unique clinical profiles and outcomes.
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.
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.
A collaboration between Karolinska Institutet and Karolinska University Hospital has integrated whole genome sequencing into routine diagnostic investigations for rare diseases. This approach has enabled the diagnosis of a genetic cause in 23% of patients, with diagnoses involving variants in over 1,500 different genes.
Research presented at EAU26 confirms that prostate cancer screening leads to a reduction in mortality, but also detects cancers that would otherwise remain undetected. The study's findings suggest that using MRI in prostate cancer screening can reduce overdiagnosis and unnecessary biopsies.
The Alliance for Clinical Trials in Oncology is spotlighting new trials for colorectal cancer in March, focusing on early detection methods and treatments for treatment delays and loss of appetite. The trials aim to improve patient outcomes, with several enrolling patients with newly diagnosed colon or rectal cancer.
A team of researchers from the University of Oldenburg has discovered a unique genetic pattern, or 'fingerprint', associated with NOTCH1 gene variants that commonly cause congenital heart defects. This breakthrough enables more reliable diagnoses and targeted therapies for patients and their families.
Chronic alcohol consumption alters endocannabinoid gene expression in reward- and decision-related brain regions, offering insights into addiction biology. This study reveals changes in CB1 and CB2 receptor genes, as well as GPR55 and FAAH enzymes, potentially leading to targeted therapeutic strategies.
Researchers at Johns Hopkins Kimmel Cancer Center have developed a novel liquid biopsy approach to identify early-stage cancers by measuring DNA methylation patterns. The Epigenetic Instability Index (EII) successfully distinguished patients with early-stage lung and breast cancers from healthy individuals, showing promise in detecting...
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.
A new study by CNIO has identified two genes in the complement system that increase the risk of pancreatic ductal adenocarcinoma. These genes, FCN1 and PLAT, may serve as biomarkers for screening high-risk populations.
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 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.
Scientists at Penn Vet have identified two genes, Ctnna1 and Bcl2l13, that suppress metastasis in preclinical models of colorectal cancer. These findings could lead to better treatments and therapies for patients with metastatic disease.
The Ontario Hereditary Cancer Research Network has created a comprehensive provincial database to support research on cancers passed down through genetics. Ontarians at risk of hereditary cancers can now register for access to clinical trials, advocacy groups, and other resources.
A novel 3D chromosome mapping method has been developed to detect hidden structural variants in DNA, revealing new discoveries for genetic disorders. The study successfully identified known large chromosomal variants with 100% concordance and uncovered 12 novel structural variants missed by standard clinical tests.
A new survey conducted by Orlando Health found that less than half of Americans are aware of the technology and testing available to decrease risks for a healthy baby after 35 years old. Advanced prenatal testing and care can help older mothers have safe and healthy pregnancies, dispelling common misconceptions about age and pregnancy.
A new study has uncovered 42 genetic locations associated with hypertrophy of the left ventricle, a major risk factor for sudden death. The research, conducted using three-dimensional MRI images and genome-wide analysis, could lead to earlier identification of individuals at greater risk.
A genetic test developed by Dr Lauren Lansdowne can reliably determine the species of individual gibbons, helping to preserve vulnerable populations. The test uses DNA sequencing and has been validated using large-scale samples from over 200 gibbons in European zoos.
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.
A study published in JCO Precision Oncology found that genetic testing can significantly improve patient safety by providing tailored doses of chemotherapy, reducing severe side effects. The test identifies variants in two genes that impact how the body processes chemotherapy drugs, allowing doctors to adjust doses and minimize harm.
The EVOaware project aims to develop an innovative platform that addresses tumour resistance to therapies by using advanced tissue imaging technologies and integrating genetic screening, lineage tracing, and spatial omics techniques. This platform has the potential to accelerate the discovery and development of new cancer therapies.
Researchers identified a point mutation in the normal PML gene that can block the effect of arsenic trioxide, leading to treatment failure and suggesting a new target for genetic screening. This discovery has implications for personalized therapy and may help improve patient outcomes.
The American College of Medical Genetics and Genomics (ACMG) is organizing a new advisory framework to uphold the integrity of nationally coordinated newborn screening recommendations. The ACMG will convene a virtual stakeholder roundtable to gather input on the structure and function of the new expert advisory group.
A new study involving 121 former elite rowers from Australia found that one in five develops atrial fibrillation, a condition that can lead to stroke and heart failure. The researchers identified genetic and clinical tools that enable early preventive strategies, highlighting the paradox that AFib is more common among fit athletes.
The first localized Non-Invasive Prenatal Testing (NIPT) project in Armenia has been launched by BGI Genomics with Prom-Test Laboratories. The NIFTY test offers screening for Down syndrome, Edwards syndrome, Patau syndrome, and sex chromosome anomalies with over 99% accuracy.
Researchers at Rutgers University have developed a portable device capable of detecting rare genetic mutations from a single drop of blood. The device combines allele-specific polymerase chain reaction with electrical impedance to quickly and accurately test for conditions like hereditary transthyretin amyloidosis.
The Ochsner Health system implements pharmacogenomics to fine-tune treatments based on individual genetic profiles, transforming patient care through personalized medicine. Pharmacists play a pivotal role in spearheading these innovations, overcoming barriers and maximizing impact.
A novel study analyzing the cost-effectiveness of different Down syndrome screening strategies confirms that non-invasive prenatal testing (NIPT) significantly outperforms second-trimester serum screening (STSS). NIPT identifies twice as many DS cases as STSS, offering a more reliable option with lower incremental costs.
The American College of Medical Genetics and Genomics (ACMG) commends NASEM for its report on sustaining and advancing excellence in newborn screening. The report outlines nine recommendations to improve the program, including national leadership, multistakeholder input, and expanded education and awareness.
A new study reports on five patients with Canavan disease who have a novel variant identified through targeted long-read sequencing, revealing an SVA_E retrotransposable element that disrupts gene function. The findings enhance genetic diagnostics and enable improved guidance for families.
A pioneering Israeli study identifies TRIM63 as a significant genetic contributor to hypertrophic cardiomyopathy (HCM), which could transform genetic screening and treatment protocols. The findings provide compelling evidence for the gene’s role in both causing and increasing susceptibility to HCM.
A study published in the Journal of Medical Entomology found a gene mutation in bed bugs that may contribute to their resistance to insecticides. The researchers, led by Warren Booth, discovered the mutation in 134 unique populations of bed bugs collected from North America between 2008-22.
Insilico Medicine's Pharma.AI Day 2025 will showcase the latest AI breakthroughs and updates, including precision target discovery engine PandaOmics and generative biologics platform Generative Biologics. The company aims to accelerate drug discovery and advance life sciences research with its proprietary platform.
Researchers developed a saliva test that uses AI to identify genetic mutations in the DPYD gene, which can affect how well cancer patients respond to chemotherapy. The study found several new mutations that could lead to severe side effects from 5-fluorouracil, a widely used chemotherapy drug.
Researchers used CRISPR interference to examine every gene in the human genome and discovered a new set of genes contributing to Parkinson's disease risk. The study identified the Commander complex, which regulates lysosomal function and is implicated in PD risk, offering opportunities for new treatments.
Researchers found that inhibiting WNT signaling after the hemogenic endothelium stage enhances blood progenitor formation from pluripotent stem cells. This strategy corrects intrinsic deficiencies and brings in vitro-derived HSPCs closer to their in vivo counterparts.
A new guideline recommends testing for all CF-causing gene variants, including those less common in people of color. Genetic sequencing can be used as an intermediate improvement strategy if not all variants are included in the panel. Early coordination between public health departments and specialists is crucial for timely diagnosis.
A new study found that interval cancers, which are detected between two screening sessions, account for 30% of all breast cancers. Women with high breast density, hormone therapy, and a family history of breast cancer are at increased risk. More frequent or improved screening methods could significantly improve early detection rates.
The project aims to enhance CTC detection sensitivity and specificity for clinical needs in cancer early screening, diagnosis and treatment. The team will develop an integrated system covering CTC counting, classification and downstream detection of CTC proteins and genes.
Researchers assess two approaches to test patients' hereditary cancer risks in primary care clinics, finding the point-of-care approach increases completion rates while the direct patient engagement method boosts testing rates among those eligible. The study's goal is to develop ways to improve uptake and reduce barriers to testing.
Researchers found genetic changes not exclusive to tumours and skin patches, suggesting additional factors are necessary for tumour development. The study identified a pattern of mutations in the NF1 gene that may explain why nervous system tissues are commonly affected.
BGI Genomics' Indonesian joint venture signed a partnership agreement to advance prenatal genetic screening technology in Indonesia. The collaboration focuses on extended Non-Invasive Prenatal Test (NIPT-Pro) and Copy Number Variation Sequencing (CNVseq) for early detection of fetal genetic disorders.
A groundbreaking study analyzed data from over 78,000 cancer patients to identify nearly 800 genetic changes impacting survival outcomes. The research also discovered genes significantly associated with survival in various cancers, such as breast, ovarian, skin, and gastrointestinal cancers.
The Lurie Children's hospital has launched a newborn screening awareness campaign, urging parents to contact their pediatrician if results are out of normal range. Timely diagnosis and early treatment are crucial for conditions like cystic fibrosis, where delays can lead to more severe disease.
Researchers at Kyungpook National University have developed a new approach to map and engineer enzymes for enhanced plastic recycling. They employ landscape profiling to identify efficient biocatalysts for recycling polyethylene terephthalate (PET), producing high-purity monomers under mild conditions.
The new NCCN Guidelines for Patients: Genetic Testing for Hereditary Breast, Ovarian, Pancreatic, and Prostate Cancer provide evidence-based recommendations for assessing and testing for inherited genetic mutations. The resource aims to inform individuals about their cancer risks based on personal or family history.
A multi-institutional study led by Mayo Clinic researchers has improved the accuracy of genetic testing for BRCA2 variants, enabling precise risk assessments and personalized treatment plans. The findings will aid in identifying patients who may benefit from targeted therapies such as PARP inhibitors.
A NIH study found that 48.6% of pregnant people with abnormal cfDNA testing results had undetected cancers, including colorectal, breast, and lung cancer. Whole body MRI was the most effective method for detecting cancer in this population.
The American College of Medical Genetics and Genomics has published a new evidence-based clinical guideline for phenylalanine hydroxylase deficiency diagnosis and management. The guideline provides recommendations for treatment, implementation considerations, research priorities, and economic considerations to improve patient outcomes.
The study analyzed DNA from over 100,000 participants and found that nearly 2,000 carried at least one genetic variant linked to these diseases. The findings have led to life-changing discoveries and new insights into personalized medicine.
Knowing family health history is crucial for reducing heart attack and stroke risk. Experts recommend following Life's Essential 8 - five health behaviors and three health factors to lower genetic risks.