Ethical review of research into rare genetic disorders

doi:10.1136/bmj.329.7460.288

BMJ 2004;329:288-289 (31 July), doi:10.1136/bmj.329.7460.288

Education and debate

Ethical review of research into rare genetic disorders

M Parker, reader in medical ethics¹, R Ashcroft, Leverhulme senior lecturer in medical ethics³, A O M Wilkie, Nuffield professor of pathology², A Kent, director⁴

¹ Ethox Centre, Department of Public Health, University of Oxford, Oxford OX3 7LF, ² Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, OX3 9DS, ³ Medical Ethics Unit, Imperial College London, London W6 8RP, ⁴ Genetic Interest Group, London N1 3QP

Correspondence to: M Parker Michael.parker@ethox.ox.ac.uk

Although some work on rare diseases is clearly clinical investigationand some clearly research, much activity falls uneasily betweenthe two. Where should we draw the line and how can we ensureresearch gets appropriate ethical review?

The first 150 words of the full text of this article appear below.

Introduction

Consider this case. A clinical geneticist telephoned a medicallyqualified researcher to discuss a patient with an unusual combinationof clinical features. The patient presented a puzzle for diagnosisand for counselling about the genetic risk. Two months later,the clinician sent the researcher DNA from the patient, togetherwith clinical photographs and copies of clinical letters. Nomutation hotspots were found in relevant genes, and the samplewas added to a "research panel." The clinician made furthercontact two years later, asking whether there were any positiveresults (the reply was negative) and providing some furtherclinical information.

Eventually, a further year and a half later and after testsof 13 genes had given negative results, the researcher contactedthe clinician to say that a potentially pathogenic change inthe DNA had been identified. The clinician was asked to obtainsamples from the unaffected parents. The mutation was not . . . [Full text of this article]

Problems of research classification

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Research or clinical practice?

When does clinical practice become research?

Improving ethical review

Conclusions

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