A Reader Responds to "Ethics and Evidence-Based Medicine: Is There a Conflict?"

John A. Raeburn, MBChB, PhD, FRCPE, FRCPI


October 25, 2007

To the Editor,

Thank you, thank you, thank you!

I was trained as a physician (1960s), then as a clinical geneticist (1970s), and was Professor of Clinical Genetics at Nottingham University [Nottingham, United Kingdom] from 1990 to 2003 (when I planned to retire but was wooed to become Professor of Genetics, College of Medicine and Health Sciences at the Sultan Qaboos University, in the Sultanate of Oman). My main expertise is in the genetic assessment of patients and their families (making clinical diagnoses that are then confirmed or excluded by complex genetic tests); then I use genetic principles to provide answers to the questions from the patient and family, and to list the options that they can consider.

Genetics is a specialty that is especially amenable to EBM [evidence-based medicine]. For example, risk estimates can be made and then refined; genetic causes can be identified and subclassified; empirical studies can show us what different affected families choose; and so on. However, community genetics cannot be practiced from an armchair, DNA sequencer, microarray platform, or computer (bioinformatics) terminal -- nor can the "right" decision be facilitated by a detailed individual genotype alone or even by the application of ethical guidelines. For example, is it always wrong to perform presymptomatic genetic diagnosis of Huntington's disease in a person under the age of 18 years, or to perform carrier testing for cystic fibrosis in a child who is 10 years old?

Rules make it easy for me. Sometimes, though, applying them ruthlessly gives me that deep, intuitive discomfort that Professor Loewy describes as a straitjacket. Individualizing management of a patient or of a family still needs the art of medicine to supplement molecular science. The dangers of rule utilitarianism are illustrated in clinical genetics as soon as we try to provide services for families with genetic disadvantages, given multiple affected people, within large kinships in different sibships.

Perhaps I should ask a question in deference to the undoubted role of EBM! In cash-strapped national health services wherever they are, in the United Kingdom or Cuba, or in countries with insurance-based healthcare provision and HMOs [health maintenance organizations], etc -- notably in the United States -- how do we teach the importance of a doctor's experience and probably of the necessity, sometimes, to ask the family about taking possible additional risks.[1]

With all best wishes,
John A. Raeburn, MBChB, PhD, FRCPE, FRCPI
Muscat, Sultanate of Oman


  1. Loewy EH. Ethics and evidence-based medicine: is there a conflict? MedGenMed. 2007;9:30. Available at: Accessed October 15, 2007.

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