PROJECT TEAM
Maria Rossing – Consultant, MDxCore, Department of Clinical Biochemistry and Genomic Medicine, Rigshospitalet
Muthiah Bose – Postdoctoral Fellow at Region Hovedstaden
Enrique Gómez Castillo Gómez – Research Assistant at the Department of Genomic Medicine, Rigshospitalet
THE NEED
Many cancer patients undergo genetic testing, but results often reveal variants of unknown significance (VUS). These unclear findings make it difficult for clinicians to determine whether specific genetic variants influence disease risk or treatment response. As a result, potentially valuable genomic information remains underutilized in clinical decision-making.
THE SOLUTION
Variant to Treatment has developed a systematic classification method that analyses genomic coordinate data to determine whether genetic variants are clinically relevant. The approach removes the need for biological samples and enables scalable analysis of variants, improving the interpretation of genomic data in cancer diagnostics.
Variant to Treatment
Call 8 – 2025
GRANT: 500,000 DKK
Clinical Area
Oncology, Precision Medicine
Technology
Genomics, Bioinformatics
PROJECT SUMMARY
Genetic testing plays an increasingly important role in cancer diagnostics, yet many patients receive results that reveal variants of unknown significance (VUS). These unclear findings can make it difficult for clinicians to determine the most appropriate treatment strategy.
Variant to Treatment aims to improve precision in cancer care by developing a systematic method for classifying genetic variants. The project brings together Maria Rossing, consultant at MDxCore, Department of Clinical Biochemistry and Genomic Medicine at Rigshospitalet, senior researcher Muthiah Bose, and Enrique Gómez Castillo Gómez.
Using genomic coordinate data alone, the team has developed a classification approach that eliminates the need for biological material and allows the method to scale efficiently. By improving the interpretation of genetic variants, the project aims to enable more precise treatment decisions for cancer patients.
CLINICAL IMPACT
Better classification of genetic variants can help clinicians make more precise treatment decisions for cancer patients. By reducing uncertainty in genomic testing results, the solution may enable more personalized therapies and improve outcomes for patients with genetically driven cancers.