The Precision Medicine Initiative: A child-centered perspective

child aiming bow & arrow Shutterstock croppedPatrice Milos, PhD, is president and CEO of Claritas Genomics, a CLIA-certified genetic diagnostic testing company spun off from Boston Children’s Hospital in 2013.

A child is sick, showing symptoms her parents cannot identify. Something is seriously wrong, but what? The family turns to Boston Children’s Hospital for answers. Yet, even with today’s medical advances, a precise diagnosis often remains elusive.

The Human Genome Project has sparked innovation over the last 14 years, and as President Obama’s Precision Medicine Initiative asserts, today genome science offers patients new hope for answers.

Initially, cancer will be the major medical focus of this initiative, as cancer is a genetic disease—a genomic alternation of the patient’s normal tissue DNA. Knowing the tumor’s DNA sequence could help identify its genetic driver and allow therapy to be aligned with the precise genetic defect, increasing the potential for tumor regression or perhaps a total cure.

Importantly, the President proposes $130 million to broaden the Initiative’s focus to many disorders. The funds would support the formation of a national population cohort, aimed to exceed 1 million volunteers, to advance “health and disease research through engaged participants and open, responsible data sharing.”

There are skeptics, but in my role overseeing Claritas Genomics, I can tell you that Precision Medicine is real and making a difference for our children today. Moreover, I predict it will only grow in importance. Children make up the majority of the estimated 25 million individuals with rare disorders searching for answers in the U.S alone. Many of the answers will be revealed by the genome.

Under the Precision Medicine Initiative, emerging tools and technologies, such as our state-of-the-art, next-generation sequencing systems, will bring focus to the search for answers. We are now at an important junction when treatments for rare diseases, including gene therapies, are in the clinic. Without these precise treatments, many of these children would die from their rare disease.

Claritas and Boston Children’s Hospital share a vision in which children with rare disorders will no longer be isolated. Organized resources will help families navigate the health care system, find patients with similar disorders, identify clinical experts who can offer them hope and join research studies to find new answers to their questions.

Together, we must speed the pace of precision and transform health care for our children.