Technologies for sequencing DNA have rapidly evolved over the past several years. With these advances, genetic information has become increasingly available to the neonatologist who is trying to diagnose disease in the newborn.
Currently, we are developing a first-of-its-kind clinical program in newborn genomic medicine that will focus on cases that can be informed by genetic testing. We aim to more rapidly provide accurate diagnoses to parents and shorten the length of diagnostic odysseys, length of hospital stays, and time to initiation of the most appropriate therapies. For some disorders, such as cystic fibrosis, such genetic testing may even direct the exact drug to be used, depending on the specific gene mutation that has been identified. The program will allow our clinicians to access state-of-the-art diagnostic methods and to consider and test for genetic etiologies for relevant newborn diseases. Through the use of appropriate genomic technologies by highly trained staff, our multidisciplinary program will involve input from genetics clinicians from Boston Children’s Hospital and Brigham and Women’s Hospital. We also hope to integrate with existing world-class genetics and genomics resources in adult genomic medicine and precision medicine already in place here at Brigham and Women’s Hospital.
We have collaborated in the development of a new technique that uses just a few drops of blood from even our tiniest patients to rapidly yield the sequence of over 500 genes that commonly cause serious disorders in the newborn period or early childhood. As these and other genomic tools are decreasing in cost and turnaround time, their value to newborn care is quickly increasing.
This groundbreaking research program, led by Drs. Robert C. Green and Alan H. Beggs, has also received NIH funding to study the impact of newborn genomic sequencing information on babies and their care, parents, and pediatricians. The BabySeq Project is a randomized trial that allows healthy and sick newborns to have an opportunity to undergo whole exome sequencing to apply to their clinical care.