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The reliance on technologies unavailable to previous generations of physicians, like next-generation DNA sequencing or advanced computational tools, in no way precludes compassionate or personalized care. Quite the opposite, it contributes knowledge to a learning healthcare system with a network of molecular biologists, mathematicians, software engineers, statisticians, other physicians and patients (some across town, others across the globe), and maybe even patients' loved ones—all working to create a learning healthcare system where the contributions of many inform the care of one person. Advocates of precision medicine, or as we call it "precision health", know that complex health issues patients face today can only be resolved by teamwork.
“The trend toward a genomic approach to cancer is gaining momentum worldwide”, says Dr. Scott Binder, Senior Vice Chair of Pathology and Laboratory Medicine. “The study of the gene signatures of thousands of tumors has revealed that every patient’s tumor is unique. That is why the goal of truly “personalized medicine” is so important for the future.”
Four years ago the parents of a teenage girl sought help for their daughter at a UCLA clinic. Since she was a toddler, the girl had suffered from a movement disorder, known as ataxia, and problems with swallowing. Previously, doctors diagnosed her with a juvenile form of the motor neuron disease ALS, but UCLA neurologists, questioning that conclusion, asked that the patient donate a blood sample for what is called whole exome DNA sequencing (which means sequencing all 23,000 human genes). That test revealed that rather than ALS, the girl carried a mutation in a gene that causes an entirely different disease, an extremely rare syndrome called Triple-A (AAA), for Achalasia-Addisonianism-Alacrima.
There is no cure for AAA syndrome, which is marked by tightening of the esophageal sphincter (Achalasia), the inability to produce tears (Alacrima), which the girl also suffered, and adrenal insufficiency (Addison's disease). UCLA physicians then combed the scientific literature to discover that indeed, a few individuals with AAA syndrome also exhibit ataxia-like symptoms, putting to rest any remaining doubts about the diagnosis.
Today, the patient's ataxia persists, but she has had surgery to relieve the achalasia and not yet developed full-blown Addison's disease. If she does, there are steroid treatments available for the condition. Her parents are freed from endless searching for the right diagnosis and now focus their energy and resources on helping their daughter manage her condition, one confirmed by irrefutable evidence. The girl, now 21, still sees a UCLA neurologist, who says she and her colleagues had never seen a case quite like this and that without genomic testing, a diagnosis might never have been made.
The concept of Precision Health is beautifully simple. Learn more.
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