TIDO: What role will genetics have in the future of health care?
Dr. Walsh: It has been said for a long time—since the human genome project—that genetics will permeate all aspects of health care. And some people might say we’ve been slower to deliver on those promises than we should have been. But I think in the field of pediatric medicine, genetics has had, and will have, an extremely big impact because almost all aspects of pediatric medicine are about genetics. Kids are usually healthy, and when they aren’t healthy, they usually have a rare disease or a genetic disorder that predisposes them in a very strong way to a specific illness. So genetics will be critical for diagnosis. It’s already critical for classification and risk assessment. It’s increasingly guiding our therapy, too. Genetics is all about discovering mechanisms, and mechanisms are guides to therapy. That wave of translation of genetics into therapies is really starting to hit.
TIDO: How is Children’s Division of Genetics helping make this future vision a reality?
Dr. Walsh: I see three ways in which our division is contributing. First, we’re pioneering the use of full exome and whole genome sequencing to understand the root causes of childhood disease. Second, we’re translating those genetic advances into a partnership with patients through the Gene Partnership, in which geneticists Ingrid Holm, MD, MPH, and Louis Kunkel, PhD, have leadership roles. Third, we’re translating genetic advances into the improved clinical care of patients by developing specialty clinics devoted to individual rare diseases where we can house clinical trials in genespecific ways.
TIDO: Children’s cares for many children with rare diseases for whom treatment options are limited. How is your research and that of your colleagues in the division helping these children?
Dr. Walsh: Our division cares for some children with rare diseases that are treatable. We have had a Phenylketonuria (PKU) clinic at Children’s for 30 years. Here, we can take a child with an incurable lethal illness, put them on the right diet and give them a long productive life. We follow people in the clinic who are now lawyers and policemen. And now we have a maternal PKU clinic to help patients have healthy children. So we have already pioneered ways to treat and follow these patients, monitor their cognitive function, know when to change approaches and know when they need to be hospitalized.
We’ve developed expertise in treating rare diseases, including those that affect the brain. We’re now trying to leverage that expertise to treat an increasing number of rare diseases that we thought were not treatable—but now we think might be by using small molecules and other drugs. We have joint clinics with many departments at Children’s and we’re starting new clinics as the opportunity arises, such as our Fragile X clinic. We’ll continue to start new clinics as we see opportunities to develop treatments for rare diseases and provide a platform on which pharmaceutical companies can work with us to test new treatments.
We also want to improve the diagnosis rate for kids with rare disease. Forty percent of kids currently leave our clinic without a specific genetic diagnosis and we want to decrease this percentage and provide a specific genetic diagnosis. We think that many of these kids probably have a disease that we already have understood on a scientific level but have not yet been able to translate into an accurate clinical diagnosis because the diagnosis is not always widely available, paid for by insurance or practical. The newest DNA sequencing technologies allow us to make diagnosis practical and useful in the clinic, and will allow us to recognize that a few of the kids who were considered untreatable may actually be treatable with present day technology. So it really is a combination of building opportunity for treatment and trying to find ways of directing as many kids as possible to the proper treatment.
- Christopher A. Walsh, MD, PhD
- The Walsh Laboratory
- Study Illuminates Role of Cerebrospinal Fluid in Brain Stem Cell Development
- Stimulus Grant to Fund "Whole-Genome Sequencing" in Children with Autism
- VIDEO: Dr. Christopher Walsh discusses why it has been difficult to identify genetic causes of autism.