Someday in the future each child that is born will have a file of their genome sequence prepared at birth. For some newborns in Boston, Kansas City, San Fransisco, and Chapel Hill the future is now. The National Institutes of Health is funding a new initiative to examine how the early availability of a child’s genome will affect medical care decisions and the families. $25 million dollars over 5 years is to be allocated between research sites. Each location is approaching the issue of infant genomes slightly differently.
Currently, when a child is born a drop of blood is taken from their heel to test for a few dozen diseases. In Boston, if a family opts into this research study, they will be presented with the genome data by a counselor very early. The study will monitor the parents satisfaction with the information, taking into account whether or not their child happened to be sick. The researchers are also planning to develop a process of reporting this genomic information to the child’s doctor which is a unique aspect of this site. Many doctors do not have the training or knowledge to make use of the child’s genomic sequence.
In Kansas City, the research will focus on infants who are admitted to the neonatal intensive care unit (NICU). These sick children may have the most to gain from a speedy genome sequence. The goal of the researchers is to provide a genomic sequence within 50 hours.
In San Fransisco, the researchers will focus on screening the sequence of exons (the regions of the DNA that code for proteins). They will also develop a participant protection framework for infant genomic sequencing and have a focus on the legal issues surrounding this data.
In Chapel Hill, the focus will be on the delivery of the information to the doctors and the families and the development of best practices in explaining the sequencing results.
I think this new investment in infant genome sequencing is really exciting. There are many infants who become very ill and even die because their genetic condition is unknown at birth. With this information in hand, the best care could be delivered at the earliest time point. However, with this new screening there will come many challenges and ethical issues. How can we ensure the security of the genome data? The NIH will not require these sequences to be submitted to their databases because the genomes of infants are a sensitive issue. Infants cannot consent to the procedure themselves and may object in the future to having their sequence made available. Protection of genomic data is critical to prevent discrimination and a host of other issues that we cannot yet even imagine. Another issue is that the medical professionals by and large are not trained or prepared to integrate genome sequence into their care plans. I think extensive training will be necessary for this data to result in changes in the care delivered.
Despite the caveats, I do think early sequencing of the genome can result in the best care from highly trained medical professionals.