Newborn Screening for Early Childhood Cancer Predisposition Syndromes
Project Team
- Sharon Plon, MD/PhD, FACMG, Baylor College of Medicine
- Donald W. (Will) Parsons, MD/PhD, Baylor College of Medicine
- Lisa Diller, MD, Dana-Farber Cancer Institute
- Philip Lupo, PhD, Emory University
- Richard Parad, MD, Brigham and Women's Hospital
- Stacey Pereira, PhD, Baylor College of Medicine
- Sarah Scollon, MS, CGC, Baylor College of Medicine
Most newborns in the United States undergo "heel-stick" testing within a few days of birth. The blood collected is for newborn screening (NBS), detecting diseases important to diagnose early; cancer risk is not currently part of NBS. Children with a cancer of the retina, retinoblastoma, often have an abnormal copy of a gene called RB1, which can be detected in a heel-stick test. These children, or "carriers," have a 90% or more chance of developing retinoblastoma, usually in both eyes and in the first years of life. If we know a baby is a carrier, we can assure the baby is getting eye exams starting very early, and disease can be identified and treated by an ophthalmologist with targeted therapy. If diagnosed later, treatment usually requires much more aggressive therapy. NBS for RB1 would promote early diagnosis. In fact, we have identified 9 genes that could, if included in NBS, identify children at risk for a number of early onset cancers. Including these genes in NBS would result in identifying infants at risk, getting them to medical care by experts and cancer screening, and, if a cancer occurs, diagnosing it early, where a cure is more likely. Our study is focused on doing the necessary work, including innovative laboratory work and a large clinical trial to show that newborn screening for cancer risk can safely be brought forward to public health laboratories in the United States as a new addition to NBS.
Project Goal:
The goal of this project is to complete the necessary research needed to make newborn screening (NBS) for cancer risk genes a reality. We plan to develop our proposed innovative sequencing technology that can conduct high volume, low-cost genetic testing and uses artificial-intelligence to support the interpretation of results. We plan to assure that our proposed test includes the right genes, testing a large number of healthy newborns (who didn't develop cancer) and making sure that we are only choosing genes associated with very high risk. We plan to develop educational materials for parents, assuring information about this kind of testing is presented appropriately for parents of all backgrounds; the materials will explain what the testing entails, what it means, and what might happen if a test comes up with an abnormal gene. Once we have those materials, we will test them in two different settings (Boston and Houston), to find out the experience of new parents whose children have these tests, and the experience of their pediatricians. We hope to understand parents’ decisions around testing their baby, and other questions around ‘cancer-worry’ and anxiety. Completing each component of the project will bring us closer to our ultimate goal: bringing our results to state labs to test in larger populations and ultimately presentation to the Advisory Committee on Heritable Diseases in Newborns, the Federal agency that decides which diseases should be included in NBS.
