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Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews

Karoline Freeman, Jacqueline Dinnes, Bethany Shinkins, Corinna Clark, Inès Kander, Katie Scandrett, Shivashri Chockalingam, Aziza Osman, Naila Dracup, Rachel Court, Furqan Butt, Cristina Visintin, James R Bonham, David Elliman, Graham Shortland, Anne Mackie, Zosia Miedzybrodzka, Sian M Morgan, Felicity Boardman, Yemisi Takwoingi, Sian Taylor-Phillips · 14 sections in 13 chapters. Each section is its own page.

Introduction

• Introduction

Methods

• Methods

Results

• Results

Conclusions

• Conclusions

• Conclusions (2)

Discussion

• Discussion

Patient and public involvement and engagement

• Patient and public involvement and engagement

Equality, diversity and inclusion

• Equality, diversity and inclusion

Impact and learning

• Impact and learning

Implications for decision-makers

• Implications for decision-makers

Research recommendations

• Research recommendations

References

• References

Additional information

• Additional information

List of supplementary material

• List of supplementary material

Attribution. Karoline Freeman; Jacqueline Dinnes; Bethany Shinkins; Corinna Clark; Inès Kander; Katie Scandrett et al. (2025). Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews. National Institute for Health and Care Research. Copyright © 2025 Freeman et al. Licensed under CC BY 4.0. NCBI Bookshelf NBK619683. CC BY 4.0. Original source ↗. Text reproduced from the Bookshelf XML without changing wording; figures, images and supplements are not reproduced.