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Term of the Day

Natural history study

A natural history study is a preplanned observational study intended to track the course of a disease over time, identifying demographic, genetic, environmental and other variables that correlate with its development and outcomes in the absence of intervention, or under standard of care. Designs may be retrospective (chart review of existing records) or prospective (longitudinal follow-up of a cohort or registry).

Natural history data is particularly important in rare and paediatric diseases, where randomised placebo-controlled trials may be infeasible or unethical. The FDA (guidance on rare disease natural history studies, 2019) and the EMA accept well-designed natural history studies to define endpoints and biomarkers, identify patient subgroups, estimate sample sizes and, in some cases, serve as external or historical control arms for single-arm trials supporting orphan products.

Because they are non-interventional, natural history studies fall outside the CTR and are governed by national law (for example France's MR-003 or MR-004 reference methodologies) and by the GDPR. They typically involve secondary use of medical records, long-term follow-up, genetic data and small populations in which anonymisation is rarely achievable, so pseudonymisation, a DPIA and a robust research legal basis under Art. 9(2)(j) are essential. Registries maintained by patient organisations or academic consortia raise additional questions of joint controllership and data access governance.

B

Biobank

A biobank is an organised collection of human biological samples (blood, tissue, DNA, cells, other body fluids) together with associated clinical, lifestyle and genetic data, stored for current and future research. Biobanks range from population cohorts (UK Biobank, Estonian Biobank, the French Constances cohort) and disease-specific collections to hospital pathology archives and the sample collections built by pharmaceutical sponsors from clinical trial participants who have consented to future research. Their scientific value lies in linking samples to longitudinal health outcomes, and they are increasingly the engine of genomic medicine and biomarker discovery. ISO 20387 (2018) sets general requirements for biobanking quality and competence, and the BBMRI-ERIC research infrastructure coordinates European biobanks.

Legal frameworks are largely national. Several countries have dedicated biobank acts (Finland, Sweden, Norway, Estonia, Belgium, Switzerland's Human Research Act), others rely on tissue and research legislation (the UK Human Tissue Act 2004, French bioethics and research laws requiring declaration or authorisation of sample collections), and the ethics committee system oversees access. Consent models range from specific consent through broad consent and dynamic consent (ongoing digital re-engagement) to presumed consent with opt-out for some hospital collections. Governance typically includes an access committee, material transfer agreements, return-of-results and incidental-findings policies, and benefit-sharing rules.

A biological sample is not itself personal data under the GDPR, but the information extracted from it, above all genetic and health data, is, and the sample label linking it to a donor makes the collection a filing system of pseudonymised data. Biobank operators are controllers processing special category data under Art. 9(2)(j) or explicit consent, must run a DPIA, keep data and identity keys separated (often through double coding by a trusted third party), define retention (frequently decades) and put appropriate safeguards in place for sharing with academic and industry partners, many of them outside the EEA, where SCCs and TIAs apply to the data accompanying samples. Sponsors adding a biobanking option to a trial should use a separate, tiered consent, describe possible commercial partners and countries of destination, and address what happens to samples and data on withdrawal.