Indications for Genomic Testing

Who is a good candidate for testing?

Physicians may elect to order whole genome sequencing for patients whose clinical presentations have defied diagnosis, or for whom a diagnosis doesn’t completely “fit” the symptoms or manifestation of disease, and for which the cause appears genetic in origin. These patients will typically have seen a number of specialists and current therapies are unsuccessful in alleviating symptoms or providing a significant improvement in health. Patients also will have undergone a series of tests, often including testing of specific genes, prior to being a good candidate for whole genome sequencing. Patients with a reliable and confirmed diagnosis will not be good candidates for whole genome sequencing.