National Human Genome Research Institute

Myriad Genetics' RiskScore Study Recognized as a Top Advance in Genomic Medicine

5 months ago

• Myriad Genetics' RiskScore study, which enhances the MyRisk Hereditary Cancer Test, has been acknowledged as a top 10 significant advance in genomic medicine by the _American Journal of Human Genetics_. • The RiskScore tool integrates a polygenic risk score (PRS) across all ancestries with the Tyrer-Cuzick model, improving breast cancer risk prediction accuracy. • Clinical validation demonstrated RiskScore's superior predictive capability compared to the Tyrer-Cuzick model alone, doubling the ability to predict breast cancer risk. • Myriad's multi-ancestry breast cancer PRS underscores its commitment to health equity, providing more inclusive genetic insights for diverse populations.

Baylor College of Medicine to Study Telehealth Genetic Services for Underserved Newborns with $3.5 Million Grant

6 months ago

• Baylor College of Medicine receives a $3.5 million grant from the National Human Genome Research Institute for the MAGNET program, aiming to improve genetic diagnoses for newborns in underserved Texas NICUs. • The MAGNET program will utilize low-cost whole genome and RNA sequencing technologies and adapt Baylor’s Consultagene platform for inpatient use, virtual genetic counseling, and provider consultation. • The program will establish a consortium of clinical partner sites in West and South Texas, training on-site providers in genomic medicine to integrate genomic data into clinical decisions. • Researchers will study the impact of increased access to genomic services on patients, families, and providers to develop best practices for cost-effective genomic platforms in under-resourced settings.

Prenatal Blood Tests May Detect Hidden Cancers in Expecting Mothers

6 months ago

• A new study reveals that prenatal cell-free DNA tests, designed to screen for fetal abnormalities, can also detect previously undetected cancers in pregnant women. • The study found that nearly half (48%) of pregnant women with abnormal prenatal blood test results were diagnosed with various cancers, including lymphoma, breast, lung, and pancreatic cancers. • Whole-body MRI scans were the most effective method for detecting these cancers, while standard diagnostic techniques were less useful. • Experts emphasize the importance of additional testing for pregnant women with abnormal cell-free DNA test results due to the significant risk of underlying cancer.

NIH to Advance Gene Therapy Trial for Rare Metabolic Disorder After Biotech Pullout

6 months ago

• NIH and NHGRI collaborate to advance a gene therapy trial for methylmalonic acidemia (MMA) after Selecta Biosciences halted the project due to financial reasons. • The trial, expected to begin in fall 2025, will use AAV8 to deliver a healthy copy of the _MMUT_ gene, offering hope for MMA patients with limited treatment options. • NCATS is committing $2.2 million over five years and leveraging its expertise in gene therapy to support the trial, which could streamline future rare disease trials at NIH. • The MMA-101 trial may inform other gene therapy initiatives like PaVe-GT and BGTC, potentially lowering costs and increasing accessibility of gene therapies.

Personalized Vaccine Shows Promise in Preventing Triple-Negative Breast Cancer Recurrence

6 months ago

• A phase I clinical trial at WashU Medicine evaluated a neoantigen DNA vaccine in patients with triple-negative breast cancer to prevent tumor recurrence. • The vaccine was well-tolerated, stimulated immune responses in 14 of 18 patients, and resulted in 16 patients remaining cancer-free after three years. • The personalized vaccine targets unique mutations in each patient's tumor, training immune cells to recognize and attack cancer cells. • Researchers are conducting ongoing randomized controlled trials to directly compare the vaccine plus standard care versus standard care alone.

NCCN Expands Genetic Testing Guidelines to Include Prostate Cancer and Updates Multi-Cancer Risk Assessment

6 months ago

• The National Comprehensive Cancer Network has broadened its genetic testing guidelines to now include prostate cancer alongside breast, ovarian, and pancreatic cancers, with the addition of HOXB13 gene testing criteria. • The expanded guidelines provide comprehensive recommendations for genetic testing based on latest research, covering pathogenic variants in genes including BRCA1, BRCA2, CDH1, PALB2, PTEN, and TP53. • Updated guidelines include specific risk reduction strategies for transgender, non-binary, and gender diverse individuals with hereditary cancer syndromes, focusing on biological sex-based risk factors.