Decoding all genes
The majority of rare genetic diseases are caused by a variant within a gene. However, it's difficult to pinpoint one gene or disease, based on clinical symptoms. This is due to similarities between symptoms which may or may not be the result of disease-causing variants.
To maximize diagnostic yield, we utilize whole exome sequencing, a technology which interprets >99% of the protein-coding regions within the human genome. The human genome contains 20,000 genes, and the protein coding region makes up around 1-2% of the human genome.
One symptom, many potential diseases
Why is decoding all genes required? Genetic defects in different genes could lead to common symptoms.
For example, if a patient has symptoms related to nervous system, 3,394 diseases with different genetic origins could be the cause.
Therefore, all 3,394 diseases need to be tested for diagnosis. To test all rare genetic diseases to maximize diagnostic yield, we decode all genes.