For the purposes of this post, when I talk about “clinical genome sequencing”, I’m talking about the sequencing of a patient’s genome with the specific aim of affecting their health care, be it diagnosis, prognosis or choice of treatment.

During my travels I often come across people in the clinical space (providers of clinical tests to patients) and I am always surprised by their reticence to even explore the idea of clinical genome sequencing.

I’ll give an example: recently, someone said to me that the £100m invested in Genomics England (a project to sequence 100,000 patients in the UK in the next 5 years) would have been better invested in the current NHS genetic testing framework.  In other words, don’t invest in the future, just put the money into the current service (the NHS currently costs approx £105billion annually, and so £100million is a drop in the ocean).

Obviously there is a clash of cultures here, and the ambitious, reckless attitude of “sequence first, think later” prominent in the genomics world is about as far as one can get from the cautious, regulated world of the clinic.

Now, I’m not an expert in clinical testing, but I wanted to express a couple of ideas.

We need to use the correct comparison on cost

The argument I hear most often is “Why would you pay $1000 to sequence a whole genome when the genetic test for (insert disease here) costs only $100?”.  Of course this argument only makes sense for a heartbeat, until you realise that the $100 test only tests for one disease, whereas the $1000 genome tests for a much larger number.  So the correct comparator for the $1000 clinical genome is not the $100 test, but the sum total of the cost of all genetic tests that that patient will ever need throughout their lifetime that the $1000 genomic test would test for too.

Of course we need to go further.  At present, we know the association between genetic variation and disease for a relatively small number of diseases.  However, in 10 years time we will know more; in 20 years yet more; and in 50 years yet more.

So the correct comparator is not just the sum of all tests that a patient will need throughout their lifetime that we know about, but all the additional genetic tests that we will develop throughout that patient’s lifetime.  Someone smarter than me needs to model this, but I’m betting that if we sequence all babies at birth now for $1000, and use the data for genetic tests throughout that person’s life, then $1000 will prove to be a bargain.

The patient needs to own the data

The second thing I wanted to say is that I’m surprised to learn that currently NHS patients don’t get access to the genetic data determined for them during a genetic test.  For example, let’s say a gene is sequenced or a SNP assayed – the consultant gets to see the test result (not the data) and make a decision, but the patient doesn’t get the data.  They don’t get the DNA sequence, or the SNP.  This needs to change.

The model has to be that once a patient is sequenced, they get the raw and processed data, and they own their own genome.  Then, whenever they need a genetic test, they provide not blood, nor DNA, they simply provide the genome sequence data that they already own, and the test provider applies a regulated and approved informatics pipeline to come up with the test result.

I’m naive

I am, I know this.  I’m not a clinician.  But I am convinced that genome seqence data will hugely influence clinical practice, and I am convinced that patients owning their own data is crucial to the coming revolution.

Thoughts?  Comments?  I expect to be told how wrong I am 😉