According to Mayo Clinic director Dr. Konstantinos Lazaridis, there are several million patients in the U.S. alone who are suffering from a rare or undiagnosed disease. He headed a Mayo Clinic study where patients were shown to have been on a “diagnostic odyssey” of seeing multiple healthcare providers without ever receiving a diagnosis. This needs to change, and Lazaridis believes DNA sequencing will lead the change we need.
WES–whole-exome sequencing–is where a person’s entire DNA sequence is determined using a section of the genome, as opposed to whole-genome sequencing, which sequences a person’s entire DNA. And while the cost for either option is somewhat expensive, the long-term benefits more than make up the price.
Although WES costs around $8,000 per patient, Lazaridis says that WES’ ability to find rare genetic conditions is well worth the cost. In their study, of the 51 patients who submitted samples for sequencing with WES, 29% were given diagnoses. “The success rate of 29 percent, which is about twofold higher of conventional genetic evaluations for such patients, makes WES a reasonable diagnostic approach for patients on a diagnostic odyssey,” Lazaridis said.
Lazaridis believes all babies should be go through WES at birth, which he says will become cheaper over time, dropping from thousands of dollars into hundreds. According to the study, about a quarter of the patients were supported for WES by Medicaid and nearly half were partially or completely covered by their insurance. Only 15% were denied by their providers. If WES continues to grow, Lazaridis believes WES could be as common as determining a baby’s blood type.
If sequencing could give a more complete and comprehensive diagnosis of its patients, it could radically change how we look at our medical system, going further into a proactive stance than a reactive. How pharmaceutical companies and big medical services will react is anyone’s guess, but this could people prevent a lifetime of medical dependence or any inconvenient surprises in life. We need to start living healthier, yes, but what is healthy for one person can be slightly different for another. Perhaps this will help us to focus and be more cognizant of our own bodies’ needs, which would significantly enhance all Americans lives.
Source: Factor