The Promise of Personalized Medicine
By: Vivian S. Lee, M.D., Ph.D., M.B.A. | Sep 18, 2014 1:00 PM
Being a physician is a privilege and heavy responsibility. People come to you at their most vulnerable, in pain and distress. Most often we can provide answers, a path forward––not always a cure, at least restorative treatments and hope. There are limits to human knowledge and there are times when we come up empty, unable to offer even the simplest comfort of a diagnosis.
Every clinical geneticist has encountered this, a patient, often a child, with a constellation of symptoms that confound the most seasoned of specialists. Genetic sequencing carries promise for families whose diagnostic odysseys have cost them valuable time and financial resources ultimately to lead them to the limits of our knowledge.
The complexities of analysis, sorting through the 3 billion base pairs of DNA found in every human genome, can’t be overstated. Computational geneticists, like University of Utah’s Mark Yandell, are creating software tools to speed the process and bring meddlesome mutations into sharp relief. Yandell is co-developer of a suite of software programs––VAAST, pVAAST and Phevor—powering our Utah Genome Project, the U.’s newest signature contribution to genetic discovery. Combined use of his tools recently helped clinicians diagnose a 12-year-old boy with life threatening intestinal inflammation. They discovered a de-novo (acquired) mutation, enabling the boy’s doctors to treat and manage his condition.
This groundbreaking work was recently featured in an article in Nature entitled, When Disease Strikes From Nowhere. As the article explains, next generation sequencing has been remarkably successful at identifying the cause of rare, inherited diseases. Scientists have just scratched the surface with spontaneous, de novo mutations. We are only beginning to understand the interplay of the genetic and environmental insults behind complex disorders such as, Alzheimer’s, autism and asthma.
Paired with the power of the Utah Population Database, the world’s largest repository of genealogical, medical records and public health records, software tools like Yandell’s are able to more easily spot genetic mutations as they transmit disease across generations. Leveraging these resources and a history of genetic discovery the U., we are edging closer to realizing the promise of personalized medicine.comments powered by Disqus