A clear path to early treatment through cost-effective, actionable genetic diagnostics

In recent decades, genetic testing has helped bring a diagnosis to millions of people with inherited diseases and their affected family members. With a conclusive diagnosis, clinicians can start the right course of treatment for their patients, or recommend the necessary lifestyle changes to ensure their patients live as comfortably and as long as possible.

The time and expense needed to provide results through traditional genetic testing methods has meant that genetic diagnostics are often used as a last resort. Now, a revolution in genetic testing technology means that patients can get their results in a fraction of the time—and at a fraction of the cost.

The impact of inherited disorders on the lives of patients and their families is indisputable, while they also present some unique challenges for healthcare professionals. Although the number of these diseases is sizeable, many are so rare that they’re unknown to the vast majority of clinicians. Identifying them using conventional diagnostics is a process of trial and error that often yields no definitive answers.

Anything we can do to improve and speed up diagnosis not only allows us to plan the best and most cost-effective treatments, but also plays an important part in patient comfort and long-term prognosis. This is where genetic testing can truly make a difference.