Biological materials and related health information

There are two main ways to obtain biological materials that are usually stored in biobanks. First, the specimens, such as blood draws or biopsies, can be taken through an additional intervention which is not a part of a standard clinical care. Second, left over biological materials obtained in the course of clinical diagnosis or treatment (so called „residual tissue“) can also be stored for future research purposes (8).

Biological materials stored in biobanks have a significant value only if they are linked with personal health information about the donor. Genetic data is also very important in biobanking, because it provides information not only about the current health status of a particular biobank participant, but also about health status of his/her family members (9). Due to the fact that a precise nature of future research with materials and data stored in the biobanks is usually unknown, it is important to keep links of  biological samples with  past, present and future health-related data, including patient health records, registers and even information related to the employment and living conditions of the individual. Despite the obvious scientific benefits personal genetic and health information collected and stored in the biobanks can provide in the future, this is a very sensitive type of data because in some adverse situations or if made public it can be used for discriminative and stigmatizing purposes (e.g., by employers, insurance companies or some other parties) (9).

Consent for biobanking

A search for a suitable consent model to obtain biological materials and health data for biobanking purposes has been one of the most important research ethics issues because a traditional specific informed consent is problematic in the context of biobanks. The need to introduce an alternative model of consent for biobanking comes from two particular circumstances. First, as has already been emphasized, the exact aims and methodology of future research cannot be specifically defined at the moment of obtaining biological samples. Second, the collected biological materials and health data are used for research long after donors have given their samples to the biobank and therefore in most cases it will not be possible to get their specific re-consent for the use of samples and data in a particular research study. So far, there have been a few alternative models of consent suggested for the biobanking purposes, including among others, broad consent, presumed consent, dynamic consent that will be shortly described.

Most often biobanks use the so-called broad consent. It permits researchers to engage in research use of identifiable biospecimens and identifiable data without the requirement to obtain additional consent for the future storage, maintenance, or research uses, as long as additional conditions are met. According the CIOMS Guidelines (Guideline 11), broad informed consent forms used in biobanks should specify:

• the purpose of the biobank;
• the conditions and duration of storage;
• the rules of access to the biobank;
• the ways in which the donor can contact the biobank custodian and remain informed about future use;
• the foreseeable uses of the materials;
• the intended goal of such use;
• the possibility of unsolicited findings and how they will be dealt with.

In some circumstances the model of presumed consent is also used. In some countries this option is applied in case the residual tissue is going to be stored in the biobank. Presumed consent or an opt-out model means that the residual material would be stored and used for research unless the person from whom it originates explicitly objected to such a use. To make an opting out procedure an informed one, it must fulfil the following conditions: the patient needs to be aware of the existence of the residual material; sufficient information needs to be provided to the patient; the patient needs to be told that he/she can withdraw his/her data; and a genuine possibility to object has to be offered (8).

The third model to be described here is the so-called dynamic consent. It is a rather innovative approach to consent that engages individuals in decisions about how their biological material and personal information is stored. The dynamic consent model allows the donors to be asked to re-consent every time when a new study is planned to be conducted or in case there are some changes in the research protocol. Different proposals for dynamic consent or patient-centric initiatives have been launched over the past decade. A recent and interesting proposal of dynamic consent and manifestation of ‘dynamic' as a unique concept, has been made during the Ensuring Consent and Revocation (EnCoRe) project. This suggested idea of dynamic consent as a web-based platform with an interface that allows research participants to have a continuous interactive relationship with the custodians of biobanks, giving the participants ‘real-time’ information on specific research projects and enabling them to easily provide or revoke their consent (11). Although dynamic consent is currently only a biobanking project, some predict that this concept could be applied more broadly in the future, not only within health but also in other fields. 

Return of research results and incidental findings

There is no universally recognized policy on how researchers should return incidental findings and results of their research relevant for the biobank participants. However, a prevalent tendency is that biobanks are more and more often accepting the duty to provide these findings to the participants of biobanks. In general, there are three guiding principles for the return of results need to be followed: results must have analytical validity, clinical significance and actionability (8).

A distinction between two types of findings is usually made. The results which were sought in pursuit of explicit research aims are being distinguished from incidental (or secondary) findings, which were obtained in the course of research but were beyond the formal aims of the research (12). Relevance of returning the incidental findings has dramatically increased after introduction of whole genome sequencing technologies. If used in the context of biobanks, these technologies allow the application of filters to raw sequence data giving the possibility to examine many pathologies at almost no additional cost (13).

However, the policies on return of incidental findings have recently provoked strong ethical controversies. On the one hand, the proponents of a more traditional viewpoint have stated that a biobank participant should always be asked about preferences not to know the results before returning clinically useful incidental findings. On the other hand, the American College of Medical Genetics and Genomics (ACMG) suggested that clinically relevant incidental findings must be reported to the biobank participant via the ordering physician regardless of biobank participant’s willingness to know or not to now this information (14). The ACMG position has been criticized because it departs from prevailing laws and norms that follow the requirement that the wish of a person not to be informed must be respected (15). Moreover, there always is a possibility that misinterpreted or frustrating results could cause psychological, social or economic harm to participants (15).

8. Council for International Organizations of Medical Sciences (CIOMS), World Health Organization (WHO). International Ethical Guidelines for Health-related Research Involving Humans. Geneva, 2016. Guideline 11: Collection, storage and use of biological materials and related data.

9. Kranendonk AJ, Hennekam RC, Ploem MC. Pediatric Biobanking: Dutch Experts Reflecting on Appropriate Legal Standards for Practice. Eur J Pediatr. 2017 Jan; 176(1):75-82].

10. Office for Human Research Protections. Attachment C – Recommendations for Broad Consent Guidance. Recommendation Approved by SACHRP July 26, 2017.

11. Steinsbekk KS, Myskja BK, Solberg B. Broad Consent versus Dynamic Consent in Biobank Research: Is Passive Participation an Ethical Problem? Eur J Hum Genet. 2013 Sep; 21(9): 897-902.

12. Clercq ED, Kaye J, Wolf SM, Koenig BA, Elger BS. Returning Results in Biobank Research: Global Trends and Solutions. Genet Test Mol Biomarkers. 2017 Mar 1; 21(3): 128-131.

13. Parens E, Appelbaum P, Chung W. Incidental Findings in the Era of Whole Genome Sequencing? Hastings Cent Rep. 2013 Jul-Aug; 43(4): 10.

14. Green RC, berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire A, Nussbaum RL, O‘Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG. ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and genome Sequencing. Genet Med. 2013 July; 15(7): 565-574.

15. Additional Protocol to the Convention on Human Rights and Biomedicine, concerning Genetic Testing for Health Purposes. Article 16. https://www.coe.int/en/web/conventions/full-list/-/conventions/rms/0900001680084824.

Further resources:

European Commission. Horizon 2020 Online Manual. https://ec.europa.eu/research/participants/docs/h2020-funding-guide/cross-cutting-issues/ethics_en.htm

Human cells or tissues, page 12. in European Commission (2019) Horizon 2020 Programme. How to complete your ethics self-assessment-material guidance. European Commission. Directorate-General for Research & Innovation.