Regulatory landscape of providing information on newborn screening to parents across Europe

Abstract

Newborn screening (NBS) is an important part of public healthcare systems in many countries. The provision of information to parents about NBS is now recognised as an integral part of the screening process. Informing parents on all aspects of screening helps to achieve the benefits, promote trust and foster support for NBS. Therefore, policies and guidelines should exist to govern how the information about NBS is provided to parents, taking into account evidence-based best practices. The purpose of our survey was to explore whether any legally binding provisions, guidelines or recommendations existed pertaining to the provision of information about NBS to parents across Europe. Questions were designed to determine the regulatory process of when, by whom and how parents should be informed about screening. Twenty-seven countries participated in the survey. The results indicated that most countries had some sort of legal framework or guidelines for the provision of information to parents. However, only 37% indicated that the provision of information was required prenatally. The majority of countries were verbally informing parents with the aid of written materials postnatally, just prior to sample collection. Information was provided by a neonatologist, midwife or nurse. A website dedicated to NBS was available for 67% of countries and 89% had written materials about NBS for parents. The survey showed that there is a lack of harmonisation among European countries in the provision of information about NBS and emphasised the need for more comprehensive guidelines at the European level.

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.

from$8.99

All prices are NET prices.

Fig. 1: Types of regulatory framework.
Fig. 2: Comparison of topics covered in NBS official web pages and written materials.

References

  1. 1.

    Martinez-Morillo E, Prieto Garcia B, Alvarez Menendez FV. Challenges for worldwide harmonization of newborn screening programs. Clin Chem. 2016;62:689–98.

    CAS  Article  Google Scholar 

  2. 2.

    Therrell BL Jr., Padilla CD. Barriers to implementing sustainable national newborn screening in developing health systems. Int J Pediatr Adolesc Med. 2014;1:49–60.

    Article  Google Scholar 

  3. 3.

    Hewlett J, Waisbren SE. A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening. J Inherit Metab Dis. 2006;29:677–82.

    CAS  Article  Google Scholar 

  4. 4.

    Kemper AR, Fant KE, Clark SJ. Informing parents about newborn screening. Public Health Nurs. 2005;22:332–8.

    Article  Google Scholar 

  5. 5.

    Gurian EA, Kinnamon DD, Henry JJ, Waisbren SE. Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics. 2006;117:1915–21.

    Article  Google Scholar 

  6. 6.

    Clayton EW. Talking with parents before newborn screening. J Pediatr. 2005;147:S26–9.

    Article  Google Scholar 

  7. 7.

    Jansen ME, van den Bosch LJM, Hendriks MJ, Scheffer MMJ, Heijnen ML, Douglas CMW, et al. Parental perspectives on retention and secondary use of neonatal dried bloodspots: a Dutch mixed methods study. BMC Pediatr. 2019;19:230.

    Article  Google Scholar 

  8. 8.

    Liebl B, Nennstiel-Ratzel U, von Kries R, Fingerhut R, Olgemoller B, Zapf A, et al. Expanded newborn screening in Bavaria: tracking to achieve requested repeat testing. Prev Med. 2002;34:132–7.

    Article  Google Scholar 

  9. 9.

    Ulph F, Wright S, Dharni N, Payne K, Bennett R, Roberts S, et al. Provision of information about newborn screening antenatally: a sequential exploratory mixed-methods project. Health Technol Assess. 2017;21:1–240.

    Article  Google Scholar 

  10. 10.

    Cunningham S, O’Doherty KC, Senecal K, Secko D, Avard D. Public concerns regarding the storage and secondary uses of residual newborn bloodspots: an analysis of print media, legal cases, and public engagement activities. J Community Genet. 2015;6:117–28.

    Article  Google Scholar 

  11. 11.

    Streetly A, Sisodia R, Dick M, Latinovic R, Hounsell K, Dormandy E. Evaluation of newborn sickle cell screening programme in England: 2010-2016. Arch Dis Child. 2018;103:648–53.

    PubMed  Google Scholar 

  12. 12.

    Araia MH, Wilson BJ, Chakraborty P, Gall K, Honeywell C, Milburn J, et al. Factors associated with knowledge of and satisfaction with newborn screening education: a survey of mothers. Genet Med. 2012;14:963–70.

    Article  Google Scholar 

  13. 13.

    Suriadi C, Jovanovska M, Quinlivan JA. Factors affecting mothers’ knowledge of genetic screening. Aust N Z J Obstet Gynaecol. 2004;44:30–4.

    Article  Google Scholar 

  14. 14.

    Nicholls SG, Southern KW. Parental information use in the context of newborn bloodspot screening. An exploratory mixed methods study. J Community Genet. 2012;3:251–7.

    Article  Google Scholar 

  15. 15.

    Al-Sulaiman A, Kondkar AA, Saeedi MY, Saadallah A, Al-Odaib A, Abu-Amero KK. Assessment of the knowledge and attitudes of Saudi mothers towards newborn screening. Biomed Res Int. 2015;2015:718674.

    Article  Google Scholar 

  16. 16.

    Frankova V, Dohnalova A, Peskova K, Hermankova R, O’Driscoll R, Jesina P, et al. Factors influencing parental awareness about newborn screening. Int J Neonat Screen. 2019;5. https://doi.org/10.3390/ijns5030035.

  17. 17.

    American Academy of Pediatrics. Newborn screening: a blueprint for the future executive summary: newborn screening task force reporg. Pediatrics. 2000;106:386–8.

    Google Scholar 

  18. 18.

    Loeber JG, Burgard P, Cornel MC, Rigter T, Weinreich SS, Rupp K, et al. Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. from blood spot to screening result. J Inherit Metab Dis. 2012;35:603–11.

    Article  Google Scholar 

  19. 19.

    Burgard P, Cornel M, Di Filippo F, Haege G, Hoffmann GF, Lindner M, et al. Report on the practices of newborn screening for rare disorders implemented in member states of the European Union, candidate, potential candidate and EFTA countries. 2012. http://old.iss.it/binary/cnmr/cont/Report_NBS_Current_Practices_20120108_FINAL.pdf. Accessed 17 Sept 2019.

  20. 20.

    Cornel MC, Rigter T, Weinreich SS, Burgard P, Hoffmann GF, Lindner M, et al. A framework to start the debate on neonatal screening policies in the EU: an expert opinion document. Eur J Hum Genet. 2014;22:12–7.

    Article  Google Scholar 

  21. 21.

    Fant KE, Clark SJ, Kemper AR. Completeness and complexity of information available to parents from newborn-screening programs. Pediatrics 2005;115:1268–72.

    Article  Google Scholar 

  22. 22.

    NHS public health functions agreement 2018-19, service specification no.19, NHS newborn blood spot screening programme. https://www.england.nhs.uk/wp-content/uploads/2017/04/Gateway-ref-07840-180913-Service-specification-No.-19-NHS-Newborn-Blood-Spot-Screening.pdf. Accessed 15 Oct 2019.

  23. 23.

    Davis TC, Humiston SG, Arnold CL, Bocchini JA Jr., Bass PF 3rd, Kennen EM, et al. Recommendations for effective newborn screening communication: results of focus groups with parents, providers, and experts. Pediatrics. 2006;117:S326–40.

    Article  Google Scholar 

  24. 24.

    Botkin JR, Rothwell E, Anderson RA, Rose NC, Dolan SM, Kuppermann M, et al. Prenatal education of parents about newborn screening and residual dried blood spots: a randomized clinical trial. JAMA Pediatr. 2016;170:543–9.

    Article  Google Scholar 

  25. 25.

    Serving the family from birth to the medical home. A report from the newborn screening task force convened in Washington DC, May 10-11, 1999. Pediatrics. 2000;106:383–427.

    Google Scholar 

  26. 26.

    Botkin JR, Rothwell E, Anderson R, Stark L, Goldenberg A, Lewis M, et al. Public attitudes regarding the use of residual newborn screening specimens for research. Pediatrics. 2012;129:231–8.

    Article  Google Scholar 

  27. 27.

    Charles T, Pitt J, Halliday J, Amor DJ. Implementation of written consent for newborn screening in Victoria, Australia. J Paediatr Child Health. 2014;50:399–404.

    Article  Google Scholar 

  28. 28.

    Caggana M, Jones EA, Shahied SI, Tanksley S, Hermerath CA, Lubin IM. Newborn screening: from Guthrie to whole genome sequencing. Public Health Rep. 2013;128:14–9.

    Article  Google Scholar 

  29. 29.

    Hanafin S. Report on the newborn screening card archive forum. Ireland: Department of Health; 2017. p. 1–35. https://assets.gov.ie/41907/635daa08fe744854b1feb6f85d44f0c6.pdf. Accessed 09 Dec 2019.

  30. 30.

    Australian Health Minsters’ Advisory Council. Newborn Bloodspot Screening, National Policy Framework. http://www.cancerscreening.gov.au/internet/screening/publishing.nsf/Content/newborn-bloodspot-screening. Accessed 6 Oct 2019.

  31. 31.

    Wilson K, Kennedy SJ, Potter BK. Developing a national newborn screening strategy for Canada. Health Law Rev. 2010;18:31–9.

    Google Scholar 

  32. 32.

    Etchegary H, Nicholls SG, Tessier L, Simmonds C, Potter BK, Brehaut JC, et al. Consent for newborn screening: parents’ and health-care professionals’ experiences of consent in practice. Eur J Hum Genet. 2016;24:1530–4.

    Article  Google Scholar 

  33. 33.

    Detmar S, Hosli E, Dijkstra N, Nijsingh N, Rijnders M, Verweij M. Information and informed consent for neonatal screening: opinions and preferences of parents. Birth. 2007;34:238–44.

    Article  Google Scholar 

  34. 34.

    Howard HC, Knoppers BM, Cornel MC, Wright Clayton E, Senecal K, Borry P, et al. Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes. Eur J Hum Genet. 2015;23:1593–600.

    Article  Google Scholar 

Download references

Funding

Institutional support was provided by projects LM2018132 from the Large Infrastructure Projects of the Czech Ministry of Education, PROGRES Q26 from Charles University and RVO VFN 64165 from the Ministry of Health, Czech Republic. Several authors of this publication are members of the European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN)—Project ID No. 739543.

Members of the European Society of Human Genetics (ESHG)-EuroGentest Quality Sub-Committee

Zandra C. Deans31, Christi J. van Asperen32 Mick J. Henderson33, David Barton34, Elisabeth M. C. Dequeker35,36, Isabel Marques Carreira37, Thomy de Ravel38, Katrina Rack39, Katrin Õunap40

Author information

Affiliations

Authors

Consortia

Corresponding authors

Correspondence to Věra Franková or Viktor Kožich.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary information

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Franková, V., Driscoll, R.O., Jansen, M.E. et al. Regulatory landscape of providing information on newborn screening to parents across Europe. Eur J Hum Genet (2020). https://doi.org/10.1038/s41431-020-00716-6

Download citation

Search