All our diagnostic tests are based on the underlying technology of whole genome sequencing. WGS gives extraordinary flexibility to tailor clinical analysis to the needs and intention of the patient and the requirements of the referring clinician. Depending on the medical history and the specific needs and intention of the patient, the analysis and interpretation can either be performed on the data from the whole genome or can be restricted to data from a selected panel of genes.
Analysing the entire genome can potentially provide a greater chance of a diagnosis. For many genetic conditions, the greatest chance of diagnosis will occur if samples from multiple family members are included in the analysis. A “trio” (i.e. three key members of the same family) is considerably more powerful in achieving a genomic diagnosis than is a “singleton” (i.e. only the affected member of the family). A genetic health professional may be able to advise whether a singleton or a trio analysis is indicated. Where the referring clinician is unsure, Genome.One can assist in providing or recommending referral to a suitable genetic health professional.
A whole genome analysis is recommended for patients with a broad differential diagnosis or patients for whom other tests have not resulted in a definitive diagnosis.
Analysing a panel of genes focuses the search on a subset of the data generated through whole genome sequencing. This reduces the time and technical analysis required and therefore lowers the cost of the test. In addition, focusing only on panels of genes decreases the chance of discovery of additional or incidental findings unrelated to the condition being investigated, which may complicate result interpretation and be inconsistent with the expressed needs and wishes of the patient.
A panel analysis is recommended when there is a specific clinical diagnosis being considered and a genomic result is being used to confirm or exclude the diagnosis of the condition. Clinicians are able to select the most appropriate analysis in collaboration with our experts and based on the patient's needs.
We run all WGS testing in our own laboratory, which is accredited for diagnostic Medical Testing