Genetic Screening
Articles tagged with Genetic Screening
Genetic risk of schizophrenia manifests in early adolescence, study shows
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.
National study examines genetic testing to inform follow-up care for cancer survivors
Predicting genetic risk for Type 1 diabetes just got more accurate thanks to UC San Diego study
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.
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.
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.
Precision medicine helps more patients receive a genetic diagnosis
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 international urology conference in London shows how far prostate cancer screening has come
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.
Alliance for Clinical Trials in Oncology highlights new and open colorectal cancer trials in March
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.
Researchers identify “fingerprint” of gene that commonly causes congenital heart defects
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 use reshapes gene expression in key human brain regions linked to relapse vulnerability and neural damage
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.
Detecting early-stage cancers with a new blood test measuring epigenetic instability
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...
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.
A study by CNIO identifies new genes that predispose an individual to pancreatic cancer
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.
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.
Identifying genes that keep cancer from spreading
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.
Launch of provincial hereditary cancer registry to drive new discoveries and link Ontarians to resources
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.
New 3D genome mapping tool reveals hidden complexity in DNA
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.
New survey shows many are unaware of advancements in obstetrics care
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.
First 3D genetic mapping of the heart uncovers genes implicated in sudden death
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.
New test could help preserve endangered gibbon populations
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.
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.
Genetic testing reduces risks from chemotherapy for gastrointestinal cancer patients
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.
ERC funding to understand tumor evolution to defeat cancer
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.
New genetic finding uncovers hidden cause of arsenic resistance in acute promyelocytic leukemia
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.
ACMG takes action to address national gap in newborn screening leadership
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.
Olympians' hearts in focus: groundbreaking study reveals elite rowers' surprising AFib risk
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.
Engineers develop genetic testing device to detect rare mutations
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.
BGI Genomics launch first localized NIPT project in Armenia with prom-test laboratories
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.
Advancing personalized medicine through pharmacogenomics: Insights from Ochsner Health
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.
Study: NIPT identifies twice as many down syndrome cases as STSS
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.
ACMG response to the NASEM report on newborn screening and recent federal government actions
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.
Identifying a novel factor in Canavan disease pathogenesis
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.
Israeli breakthrough identifies key gene in common heart disease, unlocking life-saving diagnostic potential
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.
Researchers find first evidence of potential bed bug insecticide resistance in gene mutation
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.
Pharma.AI Day 2025: Register now! Insilico Medicine to unveil gen-AI platform quarterly updates on April 24
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.
Saliva test plus AI could flag chemotherapy risk, early study results suggest
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.
New key genes in Parkinson’s disease identified using CRISPR technology
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.
Right on schedule: mimicking developmental signal timing improves in vitro blood progenitor differentiation
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.
First guideline on newborn screening for cystic fibrosis calls for changes in practice to improve outcomes
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.
Three out of ten breast cancers are detected between screenings
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.
CityUHK researchers develop an innovative bio-detection platform for cancer early screening and disease monitoring
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.
Effort seeks to increase cancer-gene testing in primary care
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.
Research challenges our understanding of cancer predisposition
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' joint venture expanded research collaboration on prenatal genetic screening in Indonesia
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.
AI unlocks genetic clues to personalize cancer treatment
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.
Lurie Children’s campaign urges parents to follow up right away if newborn screening results are abnormal
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.
A novel approach to mapping and engineering enzymes for enhanced plastic recycling
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.
New NCCN patient resource shares latest understanding of genetic testing to guide patient decision making
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.
Researchers resolve uncertainty in BRCA2 testing, improving cancer risk assessment and patient care
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.
Abnormal prenatal blood test results could indicate hidden maternal cancers
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 (ACMG) releases highly anticipated evidence-based clinical guideline for phenylalanine hydroxylase deficiency
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.
Mayo Clinic’s largest-ever exome study offers blueprint for biomedical breakthroughs
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.
You have your mother’s eyes and your father’s heart disease – now what?
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.
Finger prick on track to become Alzheimer’s test
A new finger prick test for Alzheimer's disease has shown strong performance in a European study, measuring biomarkers in blood from superficial vessels. The test could soon be implemented globally, increasing accessibility to Alzheimer's testing without the need for high-sensitivity analyses.
Cancer genetic risk assessment guidelines expand to meet growing understanding of hereditary risk
The National Comprehensive Cancer Network has updated its guidelines for genetic/familial high-risk assessment, incorporating the latest scientific research and expert recommendations to enhance screening practices and treatment options. The expanded guidelines cover various cancer types and provide guidance on genetic testing, heredit...
Research proves stool DNA as non-invasive alternative for colorectal cancer screening in Thailand
A recent study demonstrates that stool DNA testing is highly sensitive and specific for detecting colorectal cancer among Thai individuals, with a sensitivity of 91.5% and specificity of 90.3%. The test targets methylation statuses of three genes and may provide a viable non-invasive alternative to colonoscopy.
Researchers home in on tumor vulnerabilities to improve odds of treating glioblastoma
A team of researchers at the University of Toronto has discovered two distinct subtypes of glioblastoma cancer stem cells, each with unique genetic vulnerabilities. By targeting these vulnerabilities, a more effective treatment approach may be developed, improving prognosis for patients with this lethal brain cancer.
Survey: Dangerous gap in knowledge about pancreatic cancer among adults under age 50
A new survey by Ohio State University shows that most people believe pancreatic disease affects only the elderly and that there is nothing they can do to reduce their risk. However, obesity increases lifetime risk for pancreatic cancer by 20%.