In this podcast, the Head of Clinical interpretation team Eveliina Salminen (MD, PhD, Clinical geneticist) and Executive Director of Strategy Samuel Myllykangas (PhD) are discussing the importance, principles and practice of clinical interpretation in genetic testing of inherited disorders.

Accurate diagnosis of a patient with suspected inherited disorder requires detailed clinical information of the patient combined with family history and genetic testing results. Correct diagnosis confirmed with genetic testing forms the basis for selecting impactful and efficient treatments and surveillance for patients with inherited disorders and enables genetic counselling of the patient and the family.

However, utilization of large gene panels and whole exome sequencing in clinical practice is challenging since these technologies yield hundreds to thousands of variants in each patient. Clinical interpretation is a process where our team of geneticists and clinicians are classifying patient’s variants, evaluating their correlations to specific clinical phenotypes and formulating an in-depth report that characterises the observations and underlying scientific evidence.

The post Clinical interpretation in genetic testing of inherited disorders appeared first on Blueprint Genetics.