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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.

P

Privacy

Privacy is the right of an individual to be free from unwarranted intrusion into their private and family life, home and communications, and to control information about themselves. It is protected as a fundamental right by Art. 8 of the European Convention on Human Rights and Art. 7 of the Charter of Fundamental Rights of the European Union, and recognised in Art. 12 of the Universal Declaration of Human Rights. Medical confidentiality, rooted in the Hippocratic tradition and codified in professional secrecy laws, is one of its oldest expressions.

In European law, privacy and data protection are distinct but overlapping rights. Art. 8 of the Charter guarantees the protection of personal data as a separate right, implemented through the GDPR, which applies to any processing of personal data whether or not it is "private". Privacy is broader in scope (it covers bodily integrity, surveillance and family life) but narrower in application (it protects a private sphere, not all information). The ePrivacy Directive, governing cookies and electronic communications, sits at the intersection. US law, by contrast, uses "privacy" as the umbrella term, as in HIPAA's Privacy Rule and state privacy statutes such as the CCPA.

For life sciences, the practical value of the distinction is that compliance with the GDPR does not exhaust privacy obligations: medical secrecy, patient dignity in trials, confidentiality of genetic information towards relatives and insurers, and the ethical review by ethics committees all draw on the wider right. Conversely, privacy by design and privacy-enhancing technologies are engineering disciplines that serve both rights.

Are privacy and data protection exactly the same thing?

No. They overlap, but privacy also concerns intrusion into a person’s private life, while data protection addresses the processing of personal information. In research, protecting a database is therefore not the whole picture: arrangements for participant contact, interviews and examinations also deserve attention to confidentiality and personal dignity.