Infant DNA Sequencing: Worth It?

The National Institutes of Health (NIH) is launching a five-year, 25M project to determine whether DNA sequencing in newborns should replace the current “heel stick” blood test.  The heel stick test screens for up to 31 health conditions out of a possible 8,000 or so.  The NIH genomic study will involve approximately 2000 infants from five separate hospitals across the country, including two in Boston. The program will focus on a benefits versus harms analysis intended to address a variety of issues from ethical concerns stemming from the disclosure of a child’s genetic information to healthcare procedures such as determining which infants will benefit most from DNA testing and what specific genetic conditions should be emphasized.   Some of the issues the NIH study will likely face have been raised in the past (see here) by our Center Faculty Fellow and Director, Gary Marchant and Rachel Lindor (MD/JD, Class of 2011), a former Center Research Director.