Frequently Asked Questions About Newborn Sequencing
What is newborn screening?Newborn screening in the United States is a major public health success that has saved countless lives. Each state runs its own newborn screening program, where almost all newborns are tested for at least 30 (and in some states more than 50) serious-but-treatable conditions that occur during childhood.
Almost all of the current newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers (a measurable substance or characteristic that is indicative of a disease). Currently, the tests used by state newborn screening programs are fast, low cost and accurate in identifying disease before symptoms appear.
How does genomics come into it?The cost of genome sequencing has now decreased to a price range similar to many other complex medical tests, increasing the possibilities for its clinical application. One potential use for genome sequencing would be to replace or supplement the existing traditional panels of newborn screening tests. Sequencing a newborn's genome could provide more health information than the current panel of tests, and could potentially be used to guide an individual's lifetime of medical care, providing early information on both treatable childhood diseases and conditions that occur in adulthood.
Many questions remain to be answered before contemplating a future of routine newborn genome sequencing. Among the questions are:
- Can DNA sequencing identify the same conditions at birth with as much accuracy and speed as traditional methods?
- Is having a genome sequence from birth useful for that individual's clinical care?
- What if the genome sequence reveals information about untreatable diseases, or even conditions that will not occur until adulthood?
- What is the risk to newborns that the identification of specific genetic variants, such as a predisposition to a disease, could lead to future discrimination?
- How might the use of genome sequencing affect public support for newborn screening programs?
- How feasible would it be for states to perform genome sequencing in addition, or instead of, existing testing programs?
- Are there additional considerations to collecting and storing newborn genome sequences versus newborn blood specimens?
Thanks to a new research program being funded by the National Institutes of Health, a small number of pilot studies are beginning to carefully examine these questions. The program's goal is to generate scientific evidence and ethical considerations that healthcare professionals and policy makers can use to formulate future practical applications and policies related to the use of genome sequencing in the newborn period.