Genomic newborn screening: data retention for research and clinical reuse

The integration of genomic sequencing into public health newborn screening (NBS), gNBS, could identify far more children that would meet screening guidelines than existing biochemical NBS. The retention of genomic data from gNBS could have huge benefits for research and could also enable potential clinical reuse. Many different ethical frameworks can support not seeking parental permission for traditional NBS, and indeed, most programs around the world do not do so, and are either mandatory or allow for an opt-out. Many NBS programs retain the underlying sample for anonymized or pseudonymized/coded research. This is proving to be a controversial aspect of NBS. While the appropriate consent regime(s) for the screening aims for gNBS remain unclear, we put forward arguments for the appropriate consent regimes for the retention and use of genomic data in gNBS. We review the different ethical frameworks that justify screening on the one hand, and further storage and uses of the data on the other. We argue that parental permission via an informed choice should be sought for genomic data retention for research purposes, that individual genomic data may be retained by the program for QA/QI purposes (but only for long enough to permit these purposes), and that no parental permission is needed to update aggregated genomic databases (e.g., allele frequencies). For clinical recontact, the appropriate consent regime for retaining genomic data will depend on the jurisdiction, but parents should be very thoroughly educated on the prospect of re-contact if this is planned.