Newborn screening program practices in the United States: Notification, research, and consent

Objective. To define current practice among US newborn screening programs for notification of results, research, and consenting procedures. Methods. A telephone survey of all US newborn screening program supervisors. Results. All 51 programs participated. All states reported abnormal results to the infant's physician, and some also reported to the hospital and parents. Cases with abnormal results were tracked to different end-points but usually (92.1%) at least until a follow-up appointment was made. A total of 66.6% of programs can communicate with programs in other states; 9.8% enable families to suppress reporting of results to the infant's physician. No state has a mechanism for parents to prevent results from entering the medical record. Parents or physicians who request results are often authenticated by providing their name (52.9%). Many programs (45.1%) report only to physicians and require just their name (43.5%), an identification number (17.4%), a letter (26.1%), or a parent's signature (26.1%). A total of 70.6% retain residual blood samples; of these, only 8.3% store them completely devoid of patient identifiers. A total of 49.0% of programs aggregate data for research. In 16.0% of these, the data are publicly available. In 24.0%, researchers obtain approval at their own institution; in 24.0%, researchers obtain approval through the state laboratory Institutional Review Board. In 74.5% of programs, parents are notified but not asked for consent before collection of the sample; 19.6% neither notify parents nor obtain consent before screening. Conclusions. There is wide variation in practice among the US newborn screening programs. Because the programs collectively manage a comprehensive nationwide genomic databank, careful consideration of how information technology and high-throughput genomic analysis are used will be essential to allow progress in clinical care, public health, and research while protecting individual privacy.