Newborn Screening Fact Sheet

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.

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?

Clinicians, scientists, bioethicists and others have debated these issues for several years but, until now, they have been abstract questions.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.

No. This research effort seeks to determine whether or not genome sequence data could provide additional information that would be of benefit to newborns and their families during the newborn period.

Studying the ethical, legal, and social implications of receiving genomic information about newborns is an integral component of this research program. While there have been discussions in the abstract about how families will process positive diagnoses, until now these issues have not been studied in depth. There is precedence for this approach. In the abstract, many experts believed that informing someone that they had an increased risk of developing Alzheimer's disease (which is untreatable) would cause severe psychological distress. Therefore, NIH funded the REVEAL and REVEAL II studies to explore whether these assumptions were true. Surprisingly, the results of those trials suggested that individuals are not unduly distressed, demonstrating the value of such research. It is important that we seek understanding of what, if any, impacts genome sequencing and similar information could have in this possible scenario.

Participation in NIH research is entirely voluntary. Participants will only be enrolled in the studies after participating in an informed consent process, where they will be educated about the goals of the study and the possible outcomes. While in some cases it may be possible to participate in a particular aspect of a study without receiving research results, one aim of the program is to determine how clinicians and families use genomic sequence information in decision-making. Several of the funded projects are specifically interested in how families understand and respond to genomic information (including optimal ways to communicate that information). Therefore participation in these research studies may not be suitable for families who do not wish to know what their sequence information contains. As with all federally funded biomedical research studies involving human research participants, the research is overseen by an Institutional Review Board at each institute, which monitors the study plans and implementation to ensure ethical conduct throughout the research process.