Table 2 Appropriate gNBS consent regimes for retained genomic data.
From: Genomic newborn screening: data retention for research and clinical reuse
Category of genomic data | Supports which types of activity | Appropriate consent regime |
|---|---|---|
Aggregated genomic data | QA/QI; research | Same as for initial screening |
Anonymized individual level genomic data | QA/QI for the program | Same as for initial screening; should be retained only as long as necessary to support QA/QI |
If shared outside of the program (either open access or controlled access): other genetic testing/screening; research, especially population genomic research | Parental permission needed, either opt in or opt out depending on local context | |
Pseudonymized/coded individual level genomic data linked to other data, e.g., EHR for medical phenotypes, public records for social determinants of health | Can be used by the program to create pediatric population biobanks for all babies screened, to enable discovery research, including eventual therapy development | Parental permission needed, either opt in or opt out depending on local context |
Genomic data linked to identifiers and a means to contact the child’s parents | Clinical reuse: contacting parents if variant classification changes, or as new genes become clinically actionable, or for information that is actionable at older ages | Parental permission may be needed, depending on local requirements |
Genomic data linked to phenotype for screen positive children | Evaluation of screening performance, refinement of condition lists, and assessment of long-term clinical utility/harms | Some uses are QA/AI and others will be seen as research, particularly if they involve sharing data with outside researchers. The line will depend on local policies/requirements. |
