“Personalized medicine represents a better paradigm in medicine than one-size-fits-all, trial-and-error, which is what most medicine is.”
By Audrey Carleton
For patients with rare symptoms, landing on a course of treatment often comes only after a long, winding road of doctor’s visits, consultations, lab work and experiments. It’s costly, emotionally turbulent, and tiresome.
It’s what many in the world of medicine call the “diagnostic odyssey,” referring to the time it takes from the initial onset of symptoms to final diagnosis. And it’s a path that, for the average patient, takes about 8 years.
“You go from doctor to doctor for years and years, and you don’t figure out what’s going on,” Edward Abraham, founder of the Personalized Medicine Coalition (PMC), an education and advocacy group, told Motherboard. “All of that is expensive.”
It’s a cycle Abraham’s group, which consists of both non- and for-profit organizations from across the healthcare industry, is striving to do away with. Their solution? Improving access to genetic testing to allow for the creation of personalized therapeutics.
The traditional approach to medicine, Abraham describes, is one-size-fits-all. When a patient presents a rare, difficult-to-diagnose symptom, their healthcare provider may try a slew of treatments with varying effectiveness, all of which have been developed to treat the largest number of patients at once, rather than to suit the needs of a specific individual.
With personalized medicine, hard-to-diagnose symptoms are inspected by going straight to the source — the human genome. With genetic sequencing, a sample of a patient’s DNA is taken through blood, skin, or tissue, for example. Then, their entire genetic code, all 3.2-billion base pairs, are analyzed for signs of mutations that may be causing a symptom or underlying disorder. With this information, a doctor is better equipped to search for a personalized treatment for an individual disorder, or to create one from scratch.
Continue reading… “How Genetic Testing Will Create Personalized Therapeutics for Rare Diseases”