Table 1 Recommendations

1. Newborn screening by any method, including genomic testing, if adopted as a public health program should be equally available and accessible to every infant born in the jurisdiction.

2. Interpretation of genomic newborn screening results requires extensive knowledge of the normal (benign) variants, as well as of pathogenic variants, of every gene tested. Genomic newborn screening programs should, therefore, make population-specific allele frequencies of every gene included in the program publicly available in a freely-accessible database. The functional consequences (benign, pathogenic, or undetermined) of each allele should also be made available, along with the evidence supporting functional interpretations.

3. Publicly-funded universal newborn screening by genomic methods should be limited to diseases that can be diagnosed in the newborn period and effectively treated or prevented in childhood.

4. If population-based genomic newborn screening is introduced, it should only be offered as part of a comprehensive public health program that includes appropriate confirmatory testing, therapeutic interventions, clinical follow-up, genetic counselling, quality assurance, public and professional education, and governance and oversight.

5. Newborn screening by next-generation sequencing or other genomic methods should only be considered as an add-on to current first tier screening programs.

6. Current newborn screening should not be replaced by next generation sequencing or other genomic methods for any disease unless the genomic technology has been shown to have equal or better sensitivity and specificity for the disease.

7. At the present time, our understanding of, and ability to interpret genomic variants does not justify use of genome-wide (whole genome or exome) sequencing in population-based newborn screening. Research is needed to demonstrate the clinical utility and cost-effectiveness of genome-wide sequencing and to resolve outstanding health policy and ethical issues before genome-wide sequencing is implemented for newborn screening within a jurisdiction.

8. At the present time, our understanding of, and ability to interpret genomic variants does not justify sequencing large multigene (physical or bioinformatic) panels for population-based newborn screening. Research is needed to demonstrate the clinical utility and cost-effectiveness of sequencing large multigene panels for population-based newborn screening and to resolve outstanding health policy and ethical issues before the use of large sequencing panels is implemented for newborn screening within a jurisdiction.