Clinical interpretation in genetic testing of inherited disorders
Published on August 10, 2017
In this podcast, the Head of Clinical interpretation team Eveliina Salminen (MD, PhD, Clinical geneticist) and Chief Technology Officer 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.
Samuel is the Head of R&D and Operations at Blueprint Genetics as well as a co-founder of the company. He is an expert in genome analysis technologies and has extensive experience in bioinformatics and cancer genomics research. Samuel received his PhD from the University of Helsinki and completed his post-doctoral research at Stanford University. At Stanford, he developed high-throughput sequencing technologies such as the Oligonucleotide-Selective Sequencing (OS-Seq™). He is an adjunct professor in genetics at the University of Helsinki, an author of several high-impact publications, and an inventor in patents of DNA sequencing methods.
Eveliina is the Head of Clinical interpretation and Clinical geneticist at Blueprint Genetics. She obtained her Ph.D on genetics of multiple epiphyseal dysplasia and osteoarthritis in 2005 followed by post-doctoral studies concentrated on genetics of multiple sclerosis, population genetics and Mendelian disease-gene mapping at the Broad Institute, MA, USA and National Public Health Institute, Helsinki, Finland. Eveliina has also worked as a geneticist in Finnish Genome Center in Helsinki with genome-wide and custom SNP chip projects doing project planning, management, genotyping and data analysis. She has Specialist training in Clinical genetics: both clinical (Dept of Clinical Genetics and Prenatal diagnostic unit, Helsinki University Central Hospital) and laboratory experience (HUSLAB, Laboratory of genetics).