From sample to diagnosis – genetic testing with Blueprint Genetics

Published on March 5, 2016

Monogenic diseases are caused by a single defective gene that occurs in all cells throughout the body. Geneticists have identified approximately 7,500 inherited diseases in humans that affect millions of people worldwide. Although the global prevalence is relatively rare, affecting roughly 5 in 100 people from birth, these diseases place a massive cost burden on national health care systems. Moreover, the impact on patients and the loss of life is profound. In many cases, early diagnosis and treatment can significantly improve a patient’s quality of life and longevity. If you suspect your patient has a specific inherited disorder, genetic diagnosis provides answers to help you determine what’s next on your patient’s care path.

In the case of cardiac diseases, for example, there are approximately 20 different genes associating with left ventricular hypertrophy (hypertrophic cardiomyopathy), and many of those genes require different treatments. Knowing the most suitable treatment could greatly impact your patient’s outcome. Genetic testing can guide you to a definitive diagnosis, and by understanding the exact cause of the disease, you can find the most effective treatments and optimal clinical follow-up.

A new breakthrough in genetic testing

Despite its obvious benefits, genetic testing has only recently come in to use as a standard diagnostic tool. Previously, clinicians faced the challenges of high costs, long turnaround times, and the difficulty of interpreting results for such rare diseases when considering genetic diagnostics as an option. Now, thanks to a new proprietary next-generation sequencing (NGS) technology called Oligonucleotide-Selective Sequencing, or OS-Seq™, genetic testing has now become a realistic and cost-effective option in the earliest stages of diagnosis. Read more about our genetic diagnostics process by downloading our white paper.

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