Ethical and regulatory requirements for conducting researcher-driven large-scale multinational genetic haematological studies: the INHERENT experience

Abstract

Background: The International Hemoglobinopathy Research Network (INHERENT) focuses on studying genetic modifiers through large, multi-ethnic genome-wide association studies involving paediatric and adult patients with haemoglobinopathies. The growing integration of genetics and genomics into global healthcare has highlighted the need for standardized policies on biospecimen and data handling. This study describes the necessary ethical and regulatory framework for conducting multinational, researcher-driven genetic studies on humans.

Methods: Key areas related to the INHERENT study were identified through collaborative research. A review of the grey literature was performed, consulting official sources. An online survey was conducted to identify the local rules.

Results: Despite the availability of 33 international documents applicable to the three key areas of our investigation, i.e. personal data processing, clinical research and biospecimen management, there is no unique reference for genetic studies without investigational drugs, i.e. outside the scope of good clinical practice. Specific laws and guidelines/recommendations governing the processing of personal data and privacy have been released in most of the 32 surveyed countries. As an example, discordances were found regarding the requirement to get approval from the ethics committees.

Conclusions: Such heterogeneity challenges the scientific community in conducting these genetic studies. This study calls for further efforts to harmonize international standards for genetic research.

Keywords: Ethics; Genetics; Genomics; Harmonization; Hemoglobinopathies; Multicentre study; Regulatory; Researcher-driven study; Standards.

Fig. 1

Number of international documents identified by consulting the official sources by topics

Fig. 2

Data transfer to third parties/other countries. Data transfer is allowed in 23 countries out of 24 (95.8%). Specifically, in the majority of them (19/23), a data transfer agreement (DTA) is mandatory

Fig. 3

(a) Ethics committees (EC) per country. In most countries (23/27; 85.2%), more than one EC is established. (b) Number of countries requiring ethics approval per type of studies, i.e. interventional clinical trials with/without drugs, non-interventional clinical studies, and clinical studies on genetic data with drugs

Fig. 4

Available provisions for biospecimen transfer across countries. Provisions to transfer biospecimens were identified in 23 countries out of 27 (85.2%)