The whole genome sequencing is the new approach in genetics for rare diseases. More and more rare disease patients and their specialists are leveraging the investigative power of the whole genome to develop a better diagnosis, identify the most effective treatment and prevent side effects from adverse drug reaction before they happen.
In the old approach, the doctor would try to diagnose the patient and then suggest a gene panel to confirm the diagnosis, thus completely missing the potential investigative power of the whole genome.
In the new approach, the doctor recommends a whole genome and then leverages the data and the reports to develop a precise diagnosis. Doctors leverage other tools to confirm the diagnosis, such as blood tests, effectively combining genomics and standard medical care.
A real story
A gentleman from Scotland, John was born with multiple genetic conditions that started to manifest themselves when he was five. John had a standard approach to healthcare. He was sick and he would see a doctor. The doctor would try and diagnose John's condition. For 25 years, John visited many specialists, took small but expensive genetic tests such as gene panels, but received no answers.
Then John discovered comprehensive DNA Analysis. This provided John and his specialist with whole-genome sequencing and customised reports based on its symptoms. Finally, after 25 years, his doctor leveraged our reports to precisely diagnose John's rare disease, identify the best treatment and even rule out some drugs to avoid potential side effects.
John is not alone in leveraging the power of the whole genome. Louisa discovered to have a predisposition to heart failure and her doctor changed her medications to avoid cardiovascular complications. Marcus was able to identify his precise type of epilepsy thanks to the whole genome sequencing.