Here's why genomic sequencing should be a standard of care

"For the tens of millions of Americans affected by a rare disease, their genes often hold the key to getting the answers they desperately need; from helping them obtain an accurate diagnosis, to identifying which treatments they are likely to respond to. However, accessing these vital genetic insights has not always been prioritized by healthcare providers and payers. Fortunately, this is starting to change."

"About 80% of rare diseases have a genetic cause, and almost 70% of which present in childhood. For many, the road to diagnosis, often referred to as the "diagnostic odyssey" can take years, is costly, and filled with uncertainty. Unlocking genetic insights for pediatric patients can often lead to a much more expedient and sometimes lifesaving diagnosis. For children suffering from a rare disease, the diagnostic odyssey that leads to a correct diagnosis averages more than four years but is considerably longer for some."

"After leading Baylor Genetics for nearly a decade, I have seen firsthand how powerful these genetic insights can be. They transform lives, guide clinical decisions, and bring long-awaited answers to patients and their families. Baylor Genetics' core mission is rooted in pushing the boundaries of science and breaking barriers to accelerate access to critical health information. With that, the future of diagnosing rare diseases will depend on our ability to ensure that genomic sequencing becomes standard of care."

Genes hold the key to accurate diagnoses and treatment selection for millions with rare diseases. Access to genetic insights by providers and payers has been limited but is beginning to improve. Genetic testing transforms lives, guides clinical decisions, and provides answers for patients and families. Approximately 80% of rare diseases are genetic and nearly 70% present in childhood. The pediatric diagnostic odyssey averages more than four years and can be costly and uncertain; about 30% of affected children die before age five. Advanced precision diagnostics and genomic sequencing can shorten or replace years of inconclusive testing, enabling faster, sometimes lifesaving diagnoses. Policy advances are starting to support earlier testing.

Read at Fast Company