Veritas at ESHG 2024, Pioneering Advances in Genomic Screening

Veritas Intercontinental continues to lead the way in genomic medicine, showcasing groundbreaking research at the European Society of Human Genetics (ESHG) 2024. This year, Veritas presented two pivotal studies that highlight the transformative potential of genomic screening in both preventive and early childhood healthcare.

Elective Genome Screening: Enhancing Preventive Care

One of Veritas's key presentations focused on elective genome sequencing (EGS) in 1300 healthy individuals. This innovative approach involves the genome analysis of individuals without medical indications, enabling the early detection of actionable genetic conditions.

?

Veritas's EGS test, the only one available with proven clinical utility, identified clinically relevant genetic variants in 21% of participants. Notably, the study found that 18.5% of these variants are included in the ACMG-SF v3.2 list. The detected variants were linked to hemochromatosis, hereditary cancer predisposition, hereditary cardiovascular disease, and other significant conditions. Additionally, a substantial percentage of participants were carriers of one or more recessive conditions, presented risk alleles for multifactorial diseases, and had relevant pharmacogenomic associations, with a significant number showing severe gene-drug interactions.

By incorporating EGS into routine medical practice, clinicians can effectively identify genetic findings related to clinical diseases, carrier status, pharmacogenomics, and risk alleles. This comprehensive preventive approach enhances patient care through early intervention and personalized treatment strategies.

Genomic Newborn Screening: A Milestone in Early Detection

Veritas also presented the first clinical experience of genomic newborn screening in Spain. This study involved 800 newborns and aimed to evaluate the implementation of genomic screening in early childhood healthcare.

The results revealed that approximately 8.6% of newborns had variants in the genes included in the panel. These variants were associated with a range of conditions, including hematological, syndromic, neurological, cancer, musculoskeletal, metabolic, cardiovascular, immunological, endocrine, and urogenital disorders. Early detection of these variants allowed for tailored medical management, which may involve symptom prevention or reducing the impact of the condition.

This approach not only facilitates prevention in most cases but also eliminates the diagnostic odyssey often associated with rare conditions, thereby significantly improving health outcomes for affected newborns.

Improving Healthcare Through Genomics

Veritas's participation at ESHG 2024 underscores the critical role of genomic screening in modern healthcare. By presenting these two significant studies, Veritas highlights how genomic data can revolutionize patient care, enabling early detection and personalized treatment plans that improve health outcomes.

For more information about Veritas and its pioneering work in genomics, visit us at Veritas

Contact us: [email protected]

#ESHG2024 #Genomics #PreventiveMedicine #PersonalizedHealthcare #VeritasIntercontinental