Variant interpretation and patient diagnosis

In this video, Dr Julia Foreman and Prof Helen Firth, a consultant clinical geneticist, discuss the importance of interpreting genomic variants for patient diagnosis.

Prof Firth explains her research aims to improve the diagnosis of rare diseases using new technologies and integrating genomic resources into clinical practice and the challenges of identifying diagnostic variants among millions of genetic differences in individual genomes.

Accurate interpretation is crucial as it transforms a general diagnosis into a precise molecular understanding, enabling better patient care, access to treatments, support groups, and research studies, and assessing familial risks. Conversely, inaccurate interpretations can be detrimental to patients.

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