Skip to main content

Informed consent, and an ethico- legal framework for paediatric observational research and biobanking: the experience of an Italian birth cohort study

An Erratum to this article was published on 25 April 2016


Birth cohort studies are important tools for life-course epidemiology, given the spectrum of the environmental, behavioural, and genetic factors that should be considered when making judgements on human health. Biobanks are valuable components of studies designed to investigate the genetic variability of diseases and improve phenotypic characterisation. In studies involving vulnerable populations and biobanks, it is essential to provide ethical reasoning and analyse the legal requirements. We describe the processes and the tools used in the iterative design of an appropriate informed consent model and the ethico-legal framework of the Piccolipiù study. The Piccolipiù study is a prospective population-based study funded by the Italian Ministry of Health that intends to enrol 3,000 newborns and their mothers in five Italian cities, and to store biological samples for future use. To realise these objectives, we performed a thorough evaluation of the literature, of national and international guidelines, and of the impact of the Italian legal requirements for research biobanking. Discussions among stakeholders facilitated the design of the informed consent and the ethico-legal framework. Several topics are addressed, including the suitability of a broad informed consent for paediatric biobanks, infant vulnerability, access to and sharing of data, and the disclosure of individual’s genetic results. Discussion of the ethical and legal procedures adopted in epidemiological biobanking might be a fruitful ground for comparison both at the national level, where standardization and homogeneity are lacking, and at the international level, where different regulatory issues are often in the background and might hamper research biobanks networking.

This is a preview of subscription content, access via your institution.


  • Council for International Organizations of Medical Sciences (CIOMS) in collaboration with the World Health Organization (WHO) (2008) International Ethical Guidelines for Epidemiological Studies. Geneva, February 2008

  • Council of Europe, Committee of Ministers. Recommendation Rec (2006)4 of the Committee of Ministers to member states on research on biological materials of human origin (Adopted by the Committee of Ministers on 15 March 2006 at the 958th meeting of the Ministers’ Deputies)

  • Elger BS, Caplan AL (2006) Consent and anonymization in research involving biobanks. Differing terms and norms present serious barriers to an international framework. EMBO Rep 7:661–666

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  • European Commission (2012): Biobanks for Europe. A challenge for Governance. Luxembourg: European Union, Directorate General for Research and Innovation, Science in society; vol 63.

  • Farchi S, Forastiere F, Vecchi Brumatti L et al (2014) Piccolipiu, a multicenter birth cohort in Italy: protocol of the study. BMC Pediatr 14(1):36

    Article  PubMed  PubMed Central  Google Scholar 

  • Gurwitz D, Fortier I, Lunshof JE, Knoppers BM (2009) Research ethics. Children and population biobanks. Science 325(5942):818–819. doi:10.1126/science.1173284

    Article  PubMed  Google Scholar 

  • Hansson MG, Dillner J, Bartram CR et al (2006) Should donors be allowed to give broad consent to future biobank research. Lancet Oncol 7:266–269

    Article  PubMed  Google Scholar 

  • Helgesson G (2012) In defense of broad consent. Camb Q Health Ethics 21(1):40–50. doi:10.1017/S096318011100048X

    Article  Google Scholar 

  • Hens K, Lévesque E, Dierickx K (2011a) Children and biobanks: a review of the ethical and legal discussion. Hum Genet 130(3):403–413. doi:10.1007/s00439-011-1031-8011-1031-8

    Google Scholar 

  • Hens K, Cassiman JJ, Nys H et al (2011b) Children, biobanks and the scope of parental consent. Eur J Hum Gen 19:735–739. doi:10.1038/ejhg.2011.29

    Article  Google Scholar 

  • Hens K, Nys H, Cassiman JJ et al (2011c) Risks, benefits, solidarity: a framework for the participation of children in genetic biobank research. J Pediatr 158:842–848. doi:10.1016/j.jpeds.2010.12.036

    Article  PubMed  Google Scholar 

  • Hofmann B (2009) Broadening consent and diluting ethics? JME 35:125–129. doi:10.1136/jme.2008.024851

    CAS  Google Scholar 

  • Italy (2003). Legislative decree n. 196, 30 June 2013. Data protection code.

  • Italy (2004) Code of conduct and professional practice applying to processing of personal data for statistical and scientific purposes (Published in the Official Journal n. 190 of August 14, 2004)

  • Italy (2006) Linee guida per il riconoscimento e l’accreditamento delle biobanche. National Commitee for Biosafety, Biotechnology and Life Science, Rome, Presidency of the Council of Ministers

    Google Scholar 

  • Italy (2009). Raccolta di campioni biologici a fini di ricerca. Consenso informato. Italian National Bioethics Committee and National Committee for Biosafety, Biotechnology and Life Science. Rome, Presidency of the Council of Ministers

  • Italy (2013) General authorization to genetic data treatment n. 8. 12 December 2013. National Authority for the protection of personal data

  • Kanelloupoulou NK, Kaye J, Hitley E, Creese S, Lund D, Hughes K (2011) Dynamic consent: a solution to a perennial problem? BMJ Recent Rapid Responses. Available at

  • Knoppers BM, Chadwick R (2005) Human genetic research: emerging trends in ethics. Nat Rev Genet 6:75–79

    CAS  Article  PubMed  Google Scholar 

  • Lawlor DA, Andersen AN, Batty GD (2009) Birth cohort studies: past, present and future. Int J Epidemiol 38:897–902. doi:10.1093/ije/dyp240

    Article  PubMed  Google Scholar 

  • Lunshof JE, Chadwick R, Vorhaus DB et al (2008) From genetic privacy to open consent. Nat Rev Genet 9(5):406–411. doi:10.1038/nrg2360

    CAS  Article  PubMed  Google Scholar 

  • Mongoven AM, Solomon S (2012) Biobanking: shifting the analogy from consent to surrogacy. Genet Med 14(2):183–8. Erratum. In. Genet Med 14(7):699. doi:10.1038/gim.2011.49

    Article  Google Scholar 

  • Organization for Economic Cooperation and Development (OECD) (2009) Guidelines on human biobanks and genetic research databases

  • Petrini C (2012) Consent to pediatric research: a couple of distinctions. Am J Bioeth 12(1):37–38. doi:10.1080/15265161.2011.634948

    Article  PubMed  Google Scholar 

  • Pyeritz RE (2001) The coming explosion in genetic testing: is there a duty to recontact? N Engl J Med 365:1367–1369. doi:10.1056/NEJMp1107564

    Article  Google Scholar 

  • Ravitsky V, Wilfond BS (2006) Disclosing individual genetic results to research participants. Am J Bioeth 6:8–17

    Article  PubMed  Google Scholar 

  • Ries NM, LeGrandeur J, Caulfield T (2010) Handling ethical, legal and social issues in birth cohort studies involving genetic research: responses from studies in six countries. BMC Med Ethics 11:4. doi:10.1186/1472-6939-11-4

    Article  PubMed  PubMed Central  Google Scholar 

  • Salvaterra E, Lecchi L, Giovanelli S et al (2008) Banking together. A unified model of informed consent for biobanking. EMBO Rep 9(4):307–313. doi:10.1038/embor.2008.41

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  • Steinbekk KS, Myskja BK, Solber B (2013) Broad consent versus dynamic consent in biobank research: is passive participation an ethical problem? Eur J Hum Gen 21:897–902

    Article  Google Scholar 

  • Stjernschantz Forsberg J, Hansson MG, Eriksson S (2011) Biobank research: who benefits from individual consent? BMJ 343:d5647. doi:10.1136/bmj.d5647

    Article  PubMed  Google Scholar 

  • Toccaceli V, Fagnani C, Nisticò L et al (2009) Research understanding, attitude and awareness towards biobanking: a survey among Italian twin participants to a genetic epidemiological study. BMC Med Ethics 16(10):4. doi:10.1186/1472-6939-10-4

    Article  Google Scholar 

  • Williams G, Schroeder D (2004) Human genetic banking: altruism, benefit and consent. New Gen Soc 23:89–103

    Article  Google Scholar 

  • World Medical Association (WMA). Declaration of Helsinki: ethical principles for medical research involving human subjects. 1964 last updated 64th General Assembly 2013

  • Zielhuis GA (2012) Biobanking for epidemiology. Public Health 126(3):214–216. doi:10.1016/j.puhe.2011.12.007

    CAS  Article  PubMed  Google Scholar 

Download references


The authors are grateful to Cristina D’Ippolito and Miriam Salemi (Genetic Epidemiology Unit, Centre of Epidemiology, Surveillance and Health Promotion, Istituto Superiore di Sanità, Rome) for their technical assistance. The Piccolipiù study was funded by the National Centre for Disease Prevention and Control (CCM) of the Italian Ministry of Health (No. T7A, 2010).

Conflict of interest

The authors have no conflicts of interest to declare.

Author information

Authors and Affiliations


Corresponding author

Correspondence to Virgilia Toccaceli.

Additional information

And the Piccolipiù Working Group.

See “Appendix” section for the members of the Piccolipiù Working Group.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary material 1 (PDF 212 kb)



Members of the Piccolipiù Working Group: D. Di Lallo, S. Farchi, and M. Culasso (Public Health Agency, Lazio region, Rome, Italy); L. Richiardi, F. Merletti, A. Rasulo, L. M. Fiorini, C. Grasso, and M. Trevisan (Department of Medical Sciences, University of Turin and CPO-Piemonte, Turin, Italy); T. Todros, G. Garofalo, and S. Parisi (Department of Surgical Sciences, University of Turin, Italy); L. Ronfani, L. Vecchi Brumatti, P. Volpi, E. Piscianz, V. Tognin, and M. Bin (Institute for Maternal and Child Health-IRCCS “Burlo Garofolo”, Trieste, Italy); F. Rusconi, V. Montelatici, G. Poggesi, and G. Rapisardi (Meyer Children’s University Hospital, Florence, Italy); I. Mugelli and A. Frizzi (Ospedale Santa Maria Annunziata, Ponte a Niccheri, Italy); L. Gagliardi (Department of Women’s and Children’s Health, Ospedale Versilia, Viareggio, Italy); V. Martini, P. De Bartoli, and G. Baccaro (“Città di Roma” Clinic, Rome, Italy); S. Ferrazzani, T. Bernardini, L. Di Franco, and M. Badaloni (Cristo Re Hospital, Rome, Italy); F. Forastiere and D. Porta (Department of Epidemiology, Lazio Regional Health System, Rome, Italy); and M. A. Stazi, L. Nisticò, L. Penna, S. Brescianini, V. Toccaceli, and E. Medda (Genetic Epidemiology Unit, Centre of Epidemiology, Surveillance, and Health Promotion, National Institute of Health, Rome, Italy).

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Toccaceli, V., Serino, L. & Stazi, M.A. Informed consent, and an ethico- legal framework for paediatric observational research and biobanking: the experience of an Italian birth cohort study. Cell Tissue Bank 15, 579–590 (2014).

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI:


  • Population-based biobanks
  • Informed consent
  • Vulnerability
  • Genetic test results
  • Privacy
  • Access to data