REFERENCES

1. Loeber JG, Platis D, Zetterström RH, et al. Neonatal screening in europe revisited: An ISNS perspective on the current state and developments since 2010. Int J Neonatal Screen. 2021;7:15.

2. Berg JS, Foreman AK, O'Daniel JM, et al. A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing. Genet Med. 2016;18:467-75.

3. Berg JS, Agrawal PB, Bailey DB Jr, et al. Newborn sequencing in genomic medicine and public health. Pediatrics. 2017:139.

4. Burlina A, Jones SA, Chakrapani A, et al. A new approach to objectively evaluate inherited metabolic diseases for inclusion on newborn screening programmes. Int J Neonatal Screen. 2022;8:25.

5. Milko LV, O'Daniel JM, DeCristo DM, et al. An age-based framework for evaluating genome-scale sequencing results in newborn screening. J Pediatr. 2019;209:68-76.

6. Ceyhan-Birsoy O, Machini K, Lebo MS, et al. A curated gene list for reporting results of newborn genomic sequencing. Genet Med. 2017;19:809-18.

7. Andermann A, Blancquaert I, Beauchamp S, Déry V. Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years. Bull World Health Organ. 2008;86:317-9.

8. Pereira S, Robinson JO, Gutierrez AM, et al. BabySeq Project Group. Perceived benefits, risks, and utility of newborn genomic sequencing in the babyseq project. Pediatrics. 2019;143:S6-S13.

9. Zacharias RL, Smith ME, King JS. The legal dimensions of genomic sequencing in newborn screening. Hastings Cent Rep. 2018;48 Suppl 2:S39-41.

10. Tarini BA, Goldenberg AJ. Ethical issues with newborn screening in the genomics era. Annu Rev Genomics Hum Genet. 2012;13:381-93.

11. Lantos JD. Ethical and psychosocial issues in whole genome sequencing (WGS) for newborns. Pediatrics. 2019;143:S1-5.

12. Ross LF, Clayton EW. Ethical issues in newborn sequencing research: the case study of babyseq. Pediatrics. 2019:144.

13. Pichini A, Ahmed A, Patch C, et al. Developing a national newborn genomes program: an approach driven by ethics, engagement and co-design. Front Genet. 2022;13:866168.

14. Holm IA, Agrawal PB, Ceyhan-Birsoy O, et al. BabySeq project team. the babyseq project: implementing genomic sequencing in newborns. BMC Pediatr. 2018;18:225.

15. Schuijff M, Dijkstra AM. Practices of responsible research and innovation: a review. Sci Eng Ethics. 2020;26:533-74.

16. Loeber A, Bernstein MJ, Nieminen M. Implementing responsible research and innovation: from new public management to new public governance. In: Blok V, editor. Putting Responsible Research and Innovation into Practice. Cham: Springer International Publishing; 2023. pp. 211-28.

17. Responsible research and innovation: Europe’s ability to respond to societal challenges Available from: https://data.europa.eu/doi/10.2777/11739 [Last accessed on 24 Aug 2023].

18. European commission. Open innovation, open science, open to the world. Available from: http://europa.eu/rapid/press-release_SPEECH-15-5243_en.htm [Last accessed on 24 Aug 2023].

19. HTA core model^R version 3.0. Available from: https://www.eunethta.eu/hta-core-model/ [Last accessed on 29 Aug 2023].

20. HTA core model version 3.0. Available from: https://www.eunethta.eu/wp-content/uploads/2018/03/HTACoreModel3.0-1.pdf [Last accessed on 29 Aug 2023].

21. Downie L, Halliday J, Lewis S, Amor DJ. Principles of genomic newborn screening programs: a systematic review. JAMA Netw Open. 2021;4:e2114336.

22. Souche E, Beltran S, Brosens E, et al. Recommendations for whole genome sequencing in diagnostics for rare diseases. Eur J Hum Genet. 2022;30:1017-21.

23. Hendricks-Sturrup RM, Lu CY. When should genomic and exome sequencing be implemented in newborns? Genet Med. 2020;22:809-10.

24. van El CG, Cornel MC, Borry P, et al; ESHG Public and Professional Policy Committee. Whole-genome sequencing in health care: recommendations of the European society of human genetics. Eur J Hum Genet. 2013;21:580-4.

25. Smedley D, Smith KR, Martin A, et al; 100,000 Genomes Project Pilot Investigators. 100,000 genomes pilot on rare-disease diagnosis in health care - preliminary report. N Engl J Med. 2021;385:1868-80.

26. Morava E, Baumgartner M, Patterson M, Peters V, Rahman S. Newborn screening: to WES or not to WES, that is the question. J Inherit Metab Dis. 2020;43:904-5.

27. Veldman A, Kiewiet MBG, Heiner-Fokkema MR, et al. Towards next-generation sequencing (NGS)-based newborn screening: a technical study to prepare for the challenges ahead. Int J Neonatal Screen. 2022;8:17.

28. Roman TS, Crowley SB, Roche MI, et al. Genomic sequencing for newborn screening: results of the NC NEXUS project. Am J Hum Genet. 2020;107:596-611.

29. Ceyhan-Birsoy O, Murry JB, Machini K, et al. BabySeq Project Team. Interpretation of genomic sequencing results in healthy and ill newborns: results from the BabySeq project. Am J Hum Genet. 2019;104:76-93.

30. Wojcik MH, Zhang T, Ceyhan-Birsoy O, et al. BabySeq Project Team. Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project. Genet Med. 2021;23:1372-5.

31. Genetti CA, Schwartz TS, Robinson JO, et al. BabySeq Project Team. Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq project. Genet Med. 2019;21:622-30.

32. Lewis MA, Paquin RS, Roche MI, et al. Supporting parental decisions about genomic sequencing for newborn screening: the NC NEXUS decision Aid. Pediatrics. 2016;137 Suppl 1:S16-23.

33. Ulm E, Feero WG, Dineen R, Charrow J, Wicklund C. Genetics professionals' opinions of whole-genome sequencing in the newborn period. J Genet Couns. 2015;24:452-63.

34. Bombard Y, Miller FA, Hayeems RZ, et al. Public views on participating in newborn screening using genome sequencing. Eur J Hum Genet. 2014;22:1248-54.

35. Johnston J, Lantos JD, Goldenberg A, Chen F, Parens E, Koenig BA. members of the NSIGHT Ethics and Policy Advisory Board. Sequencing newborns: a call for nuanced use of genomic technologies. Hastings Cent Rep. 2018;48 Suppl 2:S2-6.

36. Scarpa M, Bonham JR, Dionisi-Vici C, et al. Newborn screening as a fully integrated system to stimulate equity in neonatal screening in Europe. Lancet Reg Health Eur. 2022;13:100311.

37. Reinstein E. Challenges of using next generation sequencing in newborn screening. Genet Res. 2015;97:e21.

38. Grob R, Roberts S, Timmermans S. Families' experiences with newborn screening: a critical source of evidence. Hastings Cent Rep. 2018;48 Suppl 2:S29-31.

39. Joseph G, Chen F, Harris-Wai J, Puck JM, Young C, Koenig BA. Parental views on expanded newborn screening using whole-genome sequencing. Pediatrics. 2016;137 Suppl 1:S36-46.

40. King JS, Smith ME. Whole-genome screening of newborns? Pediatrics. 2016;137 Suppl 1:S8-15.

41. Friedman JM, Cornel MC, Goldenberg AJ, Lister KJ, Sénécal K, Vears DF. Global Alliance for Genomics and Health Regulatory and Ethics Working Group Paediatric Task Team. Genomic newborn screening: public health policy considerations and recommendations. BMC Med Genomics. 2017;10:9.

42. Morrison A, Dowler J. Newborn screening for disorders and abnormalities in Canada. Available from: https://www.cadth.ca/sites/default/files/pdf/Newborn_Screening_es-26_e.pdf [Last accessed on 24 Aug 2023].

43. Goldenberg AJ, Sharp RR. The ethical hazards and programmatic challenges of genomic newborn screening. JAMA. 2012;307:461-2.

44. Timmermans S, Buchbinder M. Patients-in-waiting: living between sickness and health in the genomics era. J Health Soc Behav. 2010;51:408-23.

45. COMMITTEE ON BIOETHICS, COMMITTEE ON GENETICS, AND, AMERICAN COLLEGE OF MEDICAL GENETICS AND, GENOMICS SOCIAL, ETHICAL, LEGAL ISSUES COMMITTEE. Ethical and policy issues in genetic testing and screening of children. Pediatrics. 2013;131:620-2.

46. Alarcón Garavito GA, Moniz T, Déom N, Redin F, Pichini A, Vindrola-Padros C. The implementation of large-scale genomic screening or diagnostic programmes: a rapid evidence review. Eur J Hum Genet. 2023;31:282-95.