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Why you should bone up on genetics

Sooner or later you will come up against a worried patient clutching a print out of their genetic profile and you need the knowledge to be able to advise them, explains GPSI Dr Imran Rafi.

Research findings linking genetic variation and disease, particularly common diseases such as breast cancer, diabetes and inflammatory bowel disease, are being made publically available by large research consortia such as the Wellcome Trust.

Commercial organisations have been quick in using these early research findings to offer OTC genetic testing, without the need for a medical referral.

Predictive testing assesses genetic variants and makes a risk assessment of developing particular diseases, but questions remain about how useful these tests are and what difference a combination of genetic markers can make in the threshold at which a suitable intervention would be required.

For diseases where there is a strong monogenic predisposition (such as BRCA 1 and 2 in breast cancer) and where the NHS has evaluated the clinical validity of using such genetic tests through an organisation called the UK Genetic Testing Network – there is a clear rationale for routine genetic testing.

However, at the present time for a lot of common diseases the introduction of these tests into clinical practice remains unlikely and technology ‘creep' must be avoided until there is a proper evaluation of the clinical utility of these genetic tests. At the same time there also needs to be an evaluation of the psychological aspects of informing people of their genetic risk of common diseases.

Despite this, the 2009 House of Lords Science and Technology Committee report on Genomic Medicine said GPs should be trained to be able to provide general advice to patients on the implications of the results of predictive tests for common diseases.

Sooner or later a patient will walk into a surgery with their genomic printout from a private company and the GP will be expected to respond to the patient's needs. GPs must remain up to date with advances in genetic research and the potential for clinical use.

What we mustn't loose sight of are the bread and butter aspects of general practice.

Taking an accurate family history; making a risk assessment; awareness of guidelines (e.g. NICE guidelines on familial breast cancer); knowledge of local referral pathways to family history clinics; genetic clinics and specialists are all important. Likewise, lifestyle advice is challenging in terms of patient uptake, but also has a role to play.

Dr Imran Rafi is a GPSI in Genetics and a senior lecturer in primary care education at St George's, University of London. He is also one of the speakers at a workshop on 'Genetics in Primary Care' to be held on the 26 May, run by the RCGP in association with the Primary Care Genetics Society

DNA electrophoresis (Credit: kaibara87, Flickr)