Table 1 Large-scale NBSeq research studies.
From: Early Intervention services in the era of genomic medicine: setting a research agenda
Study name | Location | Goal sample size | Number of genes or conditions screened | Uses existing NBS sample, or requires new collection | Launch date |
|---|---|---|---|---|---|
Generation Study | England | 100,000 | 250 conditions | New | 2024 |
PERIGENOMED | France | 20,000 | 150 conditions | – | 2023 |
BabyScreen+ | Australia | 1000 | 500 conditions | Existing | 2023 |
NewbornsinSA | Australia | 40,000 | 600 conditions | Existing | 2023 |
GUARDIAN | USA | 100,000 | 450 conditions | Existing | 2022 |
BeginNGS | USA, Greece | 2000 | 500 conditions | Existing | 2022 |
Baby Detect | Belgium | 40,000 | 126 conditions, 363 genes | New | 2022 |
Screen4Care | European Union | 25,000 | 200 genes | – | 2021 |
ScreenPlus | USA | 100,000 | 14 conditions | Existing | 2021 |
Early Check | USA | 10,000 | 200 conditions | Existing | 2018 |
BabyBeyond | Australia | 106 | 222 genes | New | 2016 |
NC Nexus | USA | 400 | – | New | 2016 |
BabySeq | USA | 1000 | 4300 genes | New | 2015 |
NBSeq Team | USA | 1200 | 78 genes | Existing | 2013 |
