The personal genome

Introduction

I should point out at the start that this article is by someone who doesn’t know anywhere near enough about the science of genetics, but who can see future possibilities.


My March 2012 edition of Popular Science[1] tells me that the cost of producing a human genome (individual's genetic record) is plummeting.

The first effort to sequence a single human genome cost $3 billion.  By 2011, the cost was $5,000, and the sequencing took a few weeks.  And in January 2012 a new process was announced that would cost $1,000 and sequence a human genome in two hours.

At this rate, we will soon reach a point where it will be relatively inexpensive to sequence a human genome - say, $100.  What then?

What then?

Once the cost of sequencing an individual's genetic code (or DNA) hits $100, the price barrier for most of us will be all but gone.  There's no reason not to get your sequence.  But there still needs to be some value that it will provide to the individual.

It's important at this point to note that the human genome is pretty big – one individual's record takes up 3.2gb of storage^[2].

So - we have this 3gb of data, what do we do with it?

I propose a future whereby one can book into the genetic testing lab for a review.  They'll do the sequencing, and provide it to you on a USB key – along with a bit of basic software and a report.  They can also, at your request, provide the same information to your doctor – who is likely to find it very handy.

Okay, so we have lots of data

The genome by itself doesn't really tell you much.  It's a bunch of Gs, As, Ts and Cs (Guanine, Adenine, Thymine and Cytosine[3]).  But it can tell us about a person’s genetic conditions and predispositions – if we understand the code.

At the moment science has interpreted bits of the human genome.  We know that certain parts of the human make-up are hereditary, and we know that certain parts of the human genome have an influence on specific conditions.  Work is continuing to match x part of the genome to y condition – and this is where an individual’s genetic sequence becomes useful.

The map

As I’ve already suggested, in the future you’ll pay $100 for a copy of your genetic sequence and a report.  Now it’s time to expand on that.

The report will be an explanation of your sequence, based on current scientific knowledge.  If we know that a particular combination leads to blue eyes, then the report will say “sequence c is responsible for blue eyes in your case”.  Or more importantly, “a study of your genome shows that you possess the following markers.  These have been found to correspond with a 63% increased risk of heart attack in individuals aged between 37 and 44”.

The latter information would tell you something, but would also tell your doctor how they might go about addressing a risk that they did not previously know about.

All this is fine – to a point.  The problem, though, is that we still don’t know anywhere near enough about the human genetic code.  We don’t, for instance, know enough to make that second statement.  So why would anyone bother getting a report that’s going to be out-dated in a month by new medical discoveries?

The subscription

There is a well-used business model already in existence that serves to solve this problem of information becoming obsolete very quickly – computer virus software.

An anti-virus program does its job in part by checking what’s on your computer against a list of known viruses.  Of course, people write new computer viruses all the time, so that list needs to be updated regularly – generally weekly.

In the case of human genetics, science advances by leaps and bounds.  But most of those will only matter to scholars – doctors and other medical professionals.  The rest of us would only need updated information once a month or once a year (with the doctor calling us in if something urgent does show up).

The model

I propose a three part model.

Data (genome)

This is simply an individual’s genetic sequence.  You are you, now and forever.

Translator (what bits of the genome = what medical information)

This is the bit that requires regular updates.  It says “if section 176359 of the genome contains GGTCCA then the individual will have pink eyes”.  Or some such.  It needs regular updates to keep up with current medical knowledge.

There is a second, and optional, part of the translator.  This part will say “if person with genome A breeds with person who has genome B, their offspring will have the following chance of Downs Syndrome”.  Or similar information matching two peoples’ genetic codes and predicting possible outcomes of their breeding.

Software (personal reporter)

Finally, we have the bit that brings it all together.  A software program that can match the genome to the medical information, and bring updated medical information through the interwebs from the company with which you’re subscribed.  Oh, and prompt you to pay your annual fees.

The software will also, at some point in the future, have to decide what you really care about.  When we do know all there is to know about the human genome, it’s just too much for an individual to read.  Who cares that page 3,754 of your genetic report tells you which part of your genome determined that you would have black hair?

Finally, the software will tell your doctor, at the beginning of each visit, what updated information it holds about you.

Conclusion

There we have it – my proposal for the future of personal genetics.  How we will all be able to know more about ourselves, and assist our doctors in treating us.

If you want to licence this model, please feel free to contact me and we can discuss appropriate fees.

If you would like to tell me all the bits of this article that I’ve got wrong, please use the comments section.

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[1]   Popular Science, March 2012, pages 24 and 26 (Zinio edition)

[2] Wikipedia entry Genome, accessed 13 May 2012, under the heading “Genome Size”

[3]The Free Dictionary entry GATC, accessed 13 May 2012