Posts Tagged ‘genomics’

My patient is a middle aged professional, with no symptoms what so ever.

He is fit and healthy, a non smoker, has good teeth, eats well and has no family history of arthritis or autoimmune disease. So why is he seeing a rheumatologist?

He’s concerned about some results he has received from a genetic screening test. The test results suggest that his risk of developing two autoimmune diseases – rheumatoid arthritis and Scleroderma, conditions I frequently treat, is increased.

I’m at a slight disadvantage as this is the first time I’ve had has to counsel a patient in this situation.

There’s an additional complicating factor. The patient is me.

Eric Topol, in his book, The Creative Destruction of Medicine, describes how genetic health screening will be one of the key drivers of a shift towards personalised medicine. So, a few months back, I signed up to a service provided by the genetic screening company 23andMe, which offered a personalised screening test for $178 (On the request of the FDA, 23andMe no longer offer a health screening service).

Shortly afterwards, a courier collected a small vial of my saliva and then delivered it to a US based lab. 6 weeks later an email arrived with the results.

In arranging for the test to be performed, I broke two of my usual rules as a doctor; don’t try and practice medicine on yourself (I usually outsource my personal medical care to my excellent GP) and don’t request a test where you don’t know what to do with the answer.

I went to medical school and learnt about DNA, RNA and Mendelian inheritance. Through osmosis at medical conferences and by reading the background literature, I have acquired enough genetics knowledge to bluff at a dinner party of non geneticists. But with the exception of ‘need to know’ knowledge (specific to a fairly small number of diseases) my genetics knowledge is fairly limited.

Unfortunately these tests have not yet been validated in a clinical setting so there’s no real guidance for physicians like me trying to interpret these tests; What are the pitfalls and likelihood of a false positive or a false negative test? What is predictive value of a positive test? How reassuring is a negative test and how do these genetic risk factors interact with environmental factors to increase the risk of developing a specific disease like RA or scleroderma?

If I struggle as a doctor to put this information in context, how can I counsel and guide my patient? Until I have some I’m inclined to avoid answering. I’m going to get my patient to come back and see me in a few years’ time.

Further reading
NEJM series on Genomic Medicine
Dr. Robert West’s personalised medicine blog


“The world of medicine changes less quickly,” a colleague of mine recently commented”, “than it takes for our annual scientific meeting to come around”. His wry comment reflects the slow grind of scientific progress, but also a certain medical scepticism regarding the need for change in medicine in general. Whereas this may well be true for progress within individual clinical areas, the world outside clinical medicine seems to changing rather more quickly.

The development of digital technology has fundamentally altered (and in some cases decimated) the record industry, newsprint media, retail, publishing and advertising industries. Huge fortunes have been made and large institutions have crumbled with the march of technology. Those of who need convincing that medicine will be immune to these forces of change in these areas had better read  Dr. Eric Topol’s book ‘The Creative Destruction of Medicine’.

Topol is well positioned to tell this story. He has been one of the ‘heavy hitters’ in cardiology research over the past few decades. He pioneered the development of many of the drugs routinely used in clinical practice (Plavix and tPA for example) and is well known for his involvement in highlighting the cardiovascular risks associated with Vioxx. He has published extensively in the field of genetics, has a background in medical education (he setup the Cleveland Clinic Lerner College of Medicine) and has also been involved in wireless medicine since its inception. He is currently Chief Academic Officer for Scripps Health (a non profit healthcare system), a Professor of Translational Genomics at The Scripps Research institute (La Jola, California) where he holds the Chair of Innovative Medicine.

Medicine, he says, is about to be irrevocably altered by a ‘super-convergence’ of the “the rapidly maturing digital, nonmedical world of mobile devices, cloud computing, and social networking with the emerging digital medical world of genomics, biosensors, and advancing imaging.” The revolution he describes, and which is the grand theme of this book, is the inevitable move from population based medicine to that of the science and health of the individual.

He opens by describing the key developments which have most altered the digital landscape over the last few decades; the mobile phone, home computer, internet, genetic sequencing, iPhone and social networks (Facebook, Twitter and Online Patient communities). Even the most technophobic amongst us will be peripherally aware how much technology has advanced in the last few years. It is breathtaking to see the scale of change, the impact and the breadth of possibility of this technology laid out in this book.

He also describes the ways in which patients / consumers have changed over that time as a result of some of these changes. The internet, social networking and online patient communities have created a much better informed, empowered patients and the birth of the ‘ePatient’. Todays consumers, through their experience of using the the highly personalized and almost infinite ‘deep inventory’ of online merchants (such as Amazon) have an expectation of making choices in a very customized, individualized way. They have become used to the idea that one size does not fit all.

Contrasting this personalised consumer experience he describes the current ‘orientation of medicine’. Doctors, and the medical education system that produces them, are out of touch, conservative and slow to change. Todays’ ‘Evidence based medicine’ tends to be based on studies of populations rather than on individuals. A population based study of a drug which claims to reduce the risk of MI by 36% for example, sounds much less impressive to a patient when they realise that 100 individuals will need to take the drug in order to prevent one MI. He also criticizes the use of surrogate end points in studies (e.g. like cholesterol / LDL) and the development of expert based guidelines around these and puts mass population screening tests like PSA under the microscope. He introduces the idea that it is now possible, using pharmacogenomic studies, to perform real evidence based studies based on individuals rather than populations.

His chapter on genetics (which includes a detailed descriptions of genome sequencing, diagnostic screening, and pharmacogenomics) is one of the best in the book. It makes sense of an area of such bewildering complexity that I had until now given up trying to understand. Topol himself even undergoes a commercially available genome screen and discusses the experience. There are chapters on how physiological data can now be captured in real time using wireless devices, chapters on improved (and portable) imaging technologies, 3D printing of organs, electronic health records (and how, if properly used could reduce medical errors).

Whereas this book could function very well in its own right at the level of a ‘techno-tour’ through modern medicine and new technologies, its real strength is in its description of how these individual forces will converge, influence and catalyse one another to change medicine as we now it. Topol describes how technology, much of which is already available, has rapidly progressed to allow digitization of humans (through better understanding of genomics and imaging) how this will the allow better targeting of treatments and how it will also allow direct monitoring (through imaging and biosensors).

Topol was made to write this book. His clinical and research experience positions him perfectly to be a pathfinder and guide to navigate this complex area, but he is also an excellent communicator, and fearless truth finder. He highlights the failings of our profession (and those of the regulatory authorities, pharmaceutical companies, education systems) and yet fully understands the limitations of technology, and how digitization of the human being will never capture its essential humanity. He predicts that because many of the changes he describes will be resisted by doctors and others within the health sciences, that patients / consumers are likely to lead this revolution.

The challenge for those of us in healthcare is working out where the individual clinician is going to fit into this new world. I still feel that in a rapidly changing world of almost infinite complexity, our patients are going to continue to need reliable and knowlegeable allies and guides other than their friends, relatives and online patient communities described in the book. The doctor patient relationship will always remain fundamental to most aspects of healthcare, even if supplemented with data from digital sensors or where consultations are done over a video link-up.

If we are to remain relevant to our patients though, we need to expose ourselves to the world Topol describes and embrace our digital future. It will involve changes to the rather ‘vertical’ approach to postgraduate medical education within specialties to a more ‘horizontal’ approach; In an interview with ‘Wired’ magazine this month Topol says ‘We need a Khan Academy for doctors: captivating 15-minute videos on genomics, on wireless sensors, on advanced imaging, on health information systems. These things can revive the excitement they felt as premeds, when they first decided to go into this field. If we can get practicing physicians up to speed and really inspired, maybe we won’t have to wait a generation’.

It is a bold book full of big brave ideas. Just make sure you read it before your patients do.

This article was published in the March 2012 edition of Modern Medicine Ireland