Affordable entire-genome sequencing: pros and cons

Today’s guest post comes from Document Capture Co, specialists in automating data capture . In particular, they have a large amount of experience implementing quick and cost-effective data collection methods for research projects.


Unless you’ve some missed it, most researchers will be aware that there are those amongst us who believe that we are nearing that holy grail of genetic research – the fabled ‘thousand-dollar’ genome. Current techniques mean that sequencing a single individual’s genome takes multiple days and can cost millions of dollars, but an affordable, streamlined process has been promised to be just around the corner for the last few years. It goes without saying that the ability to sequence the genomes of thousands of patients has significant implications for the medical profession, but is it an ambition we should be pursuing?

Pros
• Prevention – Current medical practices focus primarily on the treatment of illnesses, but being able to forecast the likelihood of a patient contracting certain medical problems means that the onus can be switched to prevention instead.

• Preparation – Many crippling medical disorders take their victims completely by surprise. Being able to prepare for ill health in advance means that patients can be mentally, physically and financially ready for the onset of their illnesses.

• Research – By having the genome of thousands of patients on record, researchers will be able to determine whether there is a genetic propensity for certain diseases or illnesses, and if so, even work to eradicate them completely.

• Finances – The NHS currently spends millions of pounds every year on the treatment of diseases and illnesses that could sometimes otherwise be prevented. By determining the chances of an individual suffering from these in advance, healthcare institutions can save money on treatment by ensuring that these health complaints never occur.

What are the cons?  Follow the jump to find out.



Cons
• Ethics – If a doctor had in their hand an envelope that told you to a high degree of certainty if and when you would fall critically ill, would you want to open it? Affordable genome sequencing opens up a Pandora’s Box of potential ethical issues.

• Insurance – Insurers are unlikely to take risks on individuals with a high chance of making a claim – this is why young, inexperienced drivers pay so much for car insurance. What insurer would offer to cover a patient who was practically certain to suffer from serious ill health further down the line?

• Data – The amount of data contained in an individual’s genome is almost unfathomable. Current technologies take days to sequence a single genome, so how can people hope to interpret, analyse and store all of that data? Certainly, healthcare companies will need to utilise sophisticated data capture solutions in order to make sense of all that information and use it in a useful, applicable way.

In essence, affordable whole-genome sequencing would have an enormous impact upon clinical trials, providing a large amount of data which, in time, could be used to better understand why and how certain individuals respond to drug trials in the way that they do. As the research world begins to embrace the power that affordable whole-genome sequencing could bring, we must guide decision makers in policy and ethics, as well as the media. Without this guidance we may find opposition from understandably worried members of the wider public, but with it, the cons can surely be overcome.

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