How one healthcare system is applying precision medicine

A young girl and her family celebrate the gift of a long and fulfilling life ahead, as she is declared cancer-free. A toddler suffering from a congenital heart defect undergoes successful surgery because of an innovative 3-D heart model tool, which allows the surgeons to study and practice the operation beforehand. These examples are becoming reality more often due to research and technology breakthroughs.

One of the biggest current areas of research is precision medicine, which will transform patient care for generations to come. Precision medicine, which is the application of

state-of-the-art “omics” technology to precisely diagnose, treat and cure based upon the genomic and proteomic makeup of the patient, will lead to pioneering new medical discoveries and fundamentally changing the way that doctors diagnose and treat inherited diseases like congenital heart defects, developmental disorders, and autism, as well as more complex genetic disorders such as asthma, type 2 diabetes and autoimmune disorders.

Applying precision medicine

 Phoenix Children’s Research Institute at Phoenix Children's Hospital in Phoenix, Ariz., is laying groundwork for a robust precision medicine program focused on pediatric care. The goal is to provide bench-to-bedside translation of scientific advancements to prevent, treat and manage pediatric disease. At the outset, the efforts are centering on biospecimen storage, data collection, biomedical analysis and clinical trials.

The first task for Phoenix Children’s was to build a biosciences program that would meet the standards of the College of American Pathologists (CAP). This accreditation will open doors for collaborations with other researchers who know they can trust data from the research institute's samples, aiding in the mission to advance pediatric medicine through pioneering research.

Currently, the institute is developing capabilities in data collection and biomedical analysis, or bioinformatics. Staff bioinformaticians will utilize sequencing technologies to evaluate the raw information that is locked in a patient’s biospecimen, allowing them to transform large volumes of unfiltered data into individual genetic analyses. Such analyses arm physicians with the information they need to determine the best treatment options for their patients. The research institute is working with Pierian Dx on a new study called Complete Cancer Care for Children, or C3Dx. As part of this study, the institute is developing and validating a clinical next-generation sequencing test that will be used for pediatric cancer patients. This test will be the first encompassing non-malignant exome, cancer exome and RNA sequencing. Analysis of each child’s individual cancer will help physicians identify potential treatments, either matching children to drugs already on the market or assigning them to clinical trials. For children with no other treatment options, C3Dx will provide new hope in fighting their cancer.

The components of testing and analysis are also coming in to place, with a next-generation sequencing lab with plans to achieve certification under the federally regulated Clinical Laboratory Improvement Amendments (CLIA) standards.

The final component, clinical trials, help translate knowledge into medical treatments for patients. PCRI collaborates with many pharmaceutical and biotechnology companies developing pediatric drugs and medical devices on innovative investigational drugs and devices.    

Nazneen Aziz, PhD, senior vice president of research and chief research officer, is responsible for the strategic direction and growth of research at Phoenix Children’s Hospital and has overall executive management responsibilities for developing, coordinating, and stimulating research at the Phoenix Children’s Research Institute.