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Dr. Gilles Millat, Laboratory of Molecular Cardiogenetics, Hospices Civils de Lyon, France.
For more than two decades, Dr. Millat has focused on the genetics of hereditary cardiac disorders at the University Hospital of Lyon. Originally trained in molecular biology, his work evolved from lysosomal storage disorders to inherited cardiac diseases, particularly cardiomyopathies and cardiac arrhythmias.
These disorders present important interpretive challenges:
Hypertrophic and dilated cardiomyopathies alone affect approximately 1 in 200-500 individuals. As demand for genetic testing grows, his laboratory expects to process ~5,000 cases in 2025, including 2,500 new probands, with volumes increasing 10–20% each year.
Dr. Millat’s laboratory has used SOPHiA DDM™ for more than a decade, now integrated as a central element in the analysis workflow. He highlights three key benefits:
“With just a few clicks, we can access everything needed to process a patient’s file from A to Z in only a few minutes.”
To date, nearly 15,000 patient cases have been analyzed, with approximately 700 variants per case, all systematically classified on a scale of 1-5.
In addition to the core platform, the SOPHiA DDM™ Peer Network enables some expert cardiogenetics labs across France to share variant interpretations. This collective expertise provides confirmation and confidence for complex cases.
Case example: Filamin C variant reclassification
A 70-year-old patient with hypertrophic cardiomyopathy presented with a rare FLNC variant. Although evidence supported pathogenicity, concerns about background noise led the Lyon team initially to classify it as a Variant of Uncertain Significance (VUS - Class 3).
Through the Cardio Peer Network, they found that colleagues in CHU Nantes had seen the same variant, also classified as a VUS, with a highly similar phenotype. Collaborative review allowed both teams to upgrade the classification to Class 4 (likely pathogenic).
This reclassification enabled relatives in both families to be offered presymptomatic testing, supporting earlier surveillance and informed management decisions.
“Without the Cardio Peer Network, we would have kept this variant as Class 3. Clearly, the Cardio Peer Network helped us.”
Together, SOPHiA DDM™ and the Cardio Peer Network have enabled scale, precision, and expertise sharing at CHU de Lyon, improving variant classification and informing care for patients and families affected by inherited cardiac pathologies.
Interested in SOPHiA DDM™ Peer Networks?
Connect with our team to learn how your laboratory can contribute to advancing variant classification in your field of expertise.
The opinions expressed during the video are those of the speaker and may not represent the opinions of SOPHiA GENETICS.
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