Dr Rameen Shakur takes a look at how biomedical science and genomics are playing a part in real-world clinical cardiology.
Since the start of the of the human genome project over 30 years ago the application of genomic medicine in real-world clinical management has often been used to promulgate funding for genetic- or genome-based research.
Yet, the reality has been more humbling.
The genome is much more complex than we had expected. The birth of more granular and serial sets of data within biological systems has sprouted the application of methodologies that attempt to better assimilate and – more importantly – contextualise this with our interest in human clinical outcomes. Not easy. A dynamic system for which we still have more questions than answers with patient outcome data integrated should not only provide conceptual and mechanistic understandings, but should in the long run have a tangible effect on patient care. At least, that is our goal.
So what, doc?
In clinical medicine we do not have the luxury to sit and wait for the research to catch up – we must have robust and reproducible data on which to instigate clinical management claims. This is seen acutely in inherited disease clinics where genetics meets the real-world impact for patients and their families. After all the academic evaluations of research publications, patients ask the best and most poignant questions, such as: “So what, doc?” For any practitioner and researcher this question is very humbling as it is the relevance that fuels our continued research and our sustained desire to translate our basic science mechanistic studies. In this regard, genomic medicine is an emerging discipline that involves using genomic information about an individual as part of their clinical care and the health outcomes and policy implications of that clinical use.
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