Technology

Singularity: Reading our genes like computer code

DNA strands in human form
Image caption How will our DNA impact our health as we grow up?

Raymond McCauley may go blind as he gets older.

He knows this because when he had his genetic code read, he found out that he was likely to get age-related macular degeneration (AMD).

The disease leaves the sufferer with a very narrow field of vision.

As head of bio-technology at the world's most futuristic learning institution, Singularity University, he found the news "burdensome" at first.

"I had never heard of AMD, I had no family history of it and in many ways it was the worst story you can get in genetic diagnosis, 'Here's something that you didn't know about which we can't do anything about,'" he says.

"But I'm a scientist, so I read some papers and found out that there are some things you can do. You can take vitamins, you can get a certain ocular check-up. I stopped going to the mall to buy my glasses and started seeing a research ophthalmologist."

Now he feels a lot happier.

"What was an incurable, untreatable disease turns out to be fairly curable and treatable. I'm glad that I got the information," he says.

An increasing number of private companies are offering to read people's DNA in the same way that a computer reads code, providing insights into how their own genome will affect their health.

Image caption Angelina Jolie chose a double mastectomy after finding out she was at high risk of breast cancer

Finding out that she had an 85% chance of developing breast cancer, led Hollywood actress Angelina Jolie to have both breasts removed.

Even before genetic information went mass market, doctors have raised concerns about patients Googling symptoms and diagnosing themselves with diseases often far worse than anything that they really have.

Does the new era of personalised genomics mean this is set to get worse?

"I think it could slide into a dangerous place but in that particular case and in most others, the patients are doing it with the full consent of the medical community. If you are 85% likely to get cancer in your lifetime that at the very least is going to prey on your mind and at worst it will kill you," said Mr McCauley.

And, he adds, nobody wants to return to the dark ages of medical care.

He says: "In the [19]70s a family practitioner who found out that a patient had cancer was more likely not to let them know because they didn't want to worry them. That would be unthinkable today."

It took 12 years and $3bn (£1.8bn) to sequence the human genome, the code in DNA which makes up every living thing.

But in recent years the cost and speed of sequencing have dropped dramatically and today you can send off a blood sample and get your own code read for $2,000.

And, for about $100, you can send in a sample of saliva and get reports on how your genes relate to hundreds of health conditions.

Image caption Would you want to know the future health history of your newborn?

It is only a matter of time until new parents get handed their child's genetic code alongside their birth certificate, says Mr McCauley.

"We will all get those readouts done when we are first born," he says.

"We will end up with at the very least with a health prediction, things we are likely to suffer from and the drugs that won't work for us."

But having such information readily available raises huge ethical issues too.

It could lead to what he calls the "Gattaca scenario", a sci-fi film that portrays a future society divided between those with good genes and those with bad.

"Will we also get a read out of our innate talents or limitations, social, intellectual or otherwise? That is pretty chilling. How will we handle that as a society?" asks Mr McCauley.

Complex diseases

It is clear that the authorities are unsure how to regulate the industry that is growing up around personal genetic information.

Last month the US Food and Drugs Administration banned personal genomic firm 23andme from sending out any more of its saliva tests until it could provide evidence they were accurate.

For campaign group Genetics and Society it is further evidence that the burgeoning industry is already unravelling.

"Some would say it's much too soon to talk about revolutionising healthcare, because we're still learning just how much we don't know about genes and individual health," executive director Marcy Darnovsky tells the BBC.

"I'm about ready to say that it might in fact be too late to make that claim, because it's becoming ever more clear that genetic information will never yield solid actionable data about an individual's risks for the vast majority of common complex diseases."

Knowing me

Image caption How will doctors cope with patients knowing their medical make-up better than they do?

Arming people with information about their possible future health is likely to dramatically alter the patient-doctor relationship.

Stanford-trained Dr Daniel Kraft thinks currently doctors are ill-equipped.

"If I'm your doctor and you come to me with your genome on a disk drive I don't know what to do with that," he says.

"We are still at early stages of understanding this information. No doctor wants to look at the actual code, we need tools to help us interpret it."

Those tools are likely to be algorithms that can trawl through vast amounts of data.

When we are able to make sense of the data, it will raise a whole heap of ethical questions, thinks Richard Dobbs, director of consultancy McKinsey Global Institute.

He says: "Will you need to tell your insurance company about your genome? When you go for a job will you have to tell your employee so they know how many days you will have off sick? The question becomes - where do you draw the line?"

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