Soon therapies may be guided by genetic blueprints

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In a futuristic bid the doctors have drawn up plans to sequence the full genetic code of thousands of people in a landmark project to personalize their medical care. Each person will have all 6 billion letters of their genome read, stored and linked to their medical records to help doctors prescribe more effective drugs and other therapies.

The Mayo Clinic in the US will launch the pilot study next year as part of an ambitious move towards an era of “'proactive genomics”' that puts genetics at the centre of patient care. There is a trend in medicine to use genetic information to identify patients who will benefit most from a drug and those who will respond better to an alternative.

It is claimed that this information locked up in the human genome can help a doctor advice patients on lifestyle changes to stave off diseases they are at risk of developing, but in many cases that advice is generic - for example focusing on healthy eating and regular exercise. The Mayo Clinic trial goes further by giving doctors the genetic data to choose drugs that will work best for a patient while minimizing side-effects.

Many clinics offer specific genetic tests to steer treatments, but these are often used reactively, such as when a patient fails to respond to a drug. The plan is for doctors to have a patient's genetic make-up from the start. The director of the Centre for Individualized Medicine at the Mayo Clinic in Minnesota, Gianrico Farrugia, said the cost of sequencing a whole genome - some 23,000 genes - had fallen so rapidly it was now comparable to the price of a single gene test. “We are convinced that whole genome sequencing is going to radically change the way we practice medicine,” Dr Farrugia said. Dr Farrugia said that one in five people with heart problems who are prescribed a clot-busting drug called Clopidogrel see no benefit because of a single gene that prevents them from processing it properly. Under the new scheme, doctors would be able to check for the gene before choosing which drug to prescribe.

“This is a trend that will definitely be found across the developed world in the coming two to five years… [But] Who is going to store the information…who has access, and what are you going to do with information that you or the patient might not necessarily want to find out?” Tim Aitman, professor of clinical and molecular genetics at Imperial College London, asked.

Anneke Lucassen, professor of clinical genetics at Southampton University, England, said genetic testing was not yet good enough to give definitive information for patients. “Although the cost of a full genome sequence is getting to be very affordable, robust interpretation of what it means for an individual lags behind. There's a lot of promise about tailoring treatments … but … the clinical utility of genome sequencing is limited.”

“Australia's National Health and Medical Research Council is fully aware of these international developments, and the Commonwealth Department of Health and Ageing is following the developments with interest,” a Health Department spokeswoman said.

Dr. Ananya Mandal

Written by

Dr. Ananya Mandal

Dr. Ananya Mandal is a doctor by profession, lecturer by vocation and a medical writer by passion. She specialized in Clinical Pharmacology after her bachelor's (MBBS). For her, health communication is not just writing complicated reviews for professionals but making medical knowledge understandable and available to the general public as well.

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