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

Published on March 5, 2016

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 genetic 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. However, 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.

Comprehensive genetic knowledge

Inherited disorders are found in approximately 5% of the world’s population, or around 350 million people. To date, over 7,500 different genetic diseases have been identified, and 3,500 have a known molecular genetic background, with this number growing at an ever-increasing pace.

Caring for these disorders accounts for approximately 17% of health care costs. Their impact on the lives of patients and their families is indisputable, while they also present some unique challenges for health care 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.

Why do genetic testing?

When a mutation is identified, you can make solid, accurate recommendations for your patient’s treatment and clinical monitoring, as well as advise them on lifestyle choices to improve their quality of life and longevity.

As a clinician, genetic testing can help you:

  • diagnose diseases and/or their severity
  • improve your patient’s care by identifying the specific gene mutations that cause an already diagnosed disease
  • personalize your patient’s care by choosing the best treatments
  • identify mutations that may pose a risk for developing a disease, or could be passed on to children

Blueprint Genetics provides the most cost-effective, rapid, and actionable genetic diagnostics to clinicians available today. For more information about how our services could help you in diagnosing your patients, download our white paper.

Download a white paper

 

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