Testing times

If the experts are right, within the next five years we’ll all know our genetic make-up. But are we ready for the truth of who we really are?

If it’s not too much information, there are a few things I’d like to share. I’m at greater than normal risk of developing several bowel-related diseases, of going bald and of having one or both of my balls lopped off. On the bright side, I have only an average chance of getting lung, prostate or colon cancer and the odds are I’ll never develop Type 2 diabetes or multiple sclerosis. My IQ and episodic memory fall into the “typical” range.

Although I’m of 99 per cent European extraction, my mother’s people belong to Haplogroup J, which arose in the Middle East 45,000 – 50,000 years ago. On my dad’s side I’m Haplogroup R1b1b2a1a2f, which most likely formed in Turkey about 20,000 years ago during the last Ice Age.

How do I know all this? Did I subject myself to weeks of medical testing and spend countless hours researching my genealogy? Well, no.

I spat into a vial, mailed it off for testing, then logged on to a website a month later to have the mysteries of my genetic code laid bare.

In 2003, the three billion DNA letters in the human genome were sequenced. Five years later, by which time the cost of testing had dropped to a mass-marketable level, Anne Wojcicki, wife of Google co-founder Sergey Brin, pioneered ‘retail genomics’, launching a company called 23andMe (named for the 23 pairs of chromosomes in a normal human cell). In 2008, for US$399, 23andMe customers could have 600,000 of their genetic markers identified, thus obtaining estimates of their predisposition to 90 traits and conditions, ranging from baldness to blindness.

Soon enough, other ‘personal genomics’ companies, including an Australian outfit, Lumigenix, sprung up offering similar tests. Romain Bonjean, CEO of Lumigenix, says he’s had only a few hundred customers — mainly well-heeled professionals with a pre-existing interest in genetics — since he launched his company in January but believes he’s getting in on the ground floor of something huge.

“The genotyping and sequencing market was worth $500 million last year. It’s predicted to be worth $15 billion in 2014,” he says. “It now costs about $14,000 to sequence an individual’s entire genome. Some say that within five years it will be $100. Once that happens, everyone will be sequenced. Today’s testing is like the first Apple Mac — it’s cool but it’s about to get a lot cooler. Mass testing has the potential to obliterate recessive genetic diseases like cystic fibrosis.”

“Everyone in the genetics field has been surprised at how quickly the field has moved and how slowly the uptake has followed,” says renowned geneticist Professor Bob Williamson. “But testing is literally getting cheaper by the month and everyone is interested in things passed down through families; everyone wants to avoid having a child with a serious disease.”

So can we really start breeding out diseases?

“We already have.”


“In the ’70s, in Cyprus, everyone had to be tested to see if they were a carrier of a severe hereditary anemia called Thalassemia. If they were, they were strongly discouraged from marrying another carrier and, if they did, they were pushed to have prenatal testing. Thalassemia was eliminated within a generation.”

As soon as a market in what was labelled ‘recreational genomics’ emerged, politicians and regulators were all over it, outlawing employers and insurance companies from engaging in genetic discrimination and casting a generally disapproving eye over the industry. In Australia, the Therapeutic Goods Administration is keeping a close watch on the industry and operators such as Lumigenix are treading carefully.

“Though we could, we are not testing for diseases, such as early onset Alzheimer’s, some breast cancer markers or Huntington’s disease, where your genotype gives you a near certainty of getting that disease,” Lumigenix CEO Romain Bonjean says. “That’s significant, life-changing information and should involve genetic counselling. Our focus is on more common diseases that have environmental influence, that you can take steps to prevent.”

That’s an approach Professor Bob Williamson has little time for. “I can’t understand why people wouldn’t be given information about Alzheimer’s. Ninety per cent of them will discover that they have a very low risk of developing it. The 10 per cent who are at high risk can delay its onset by staying physically and mentally active, as well as make choices about things such as drawing up a living will.”

The issue of what diseases people should be told they are likely to develop is just the tip of the double helix when it comes to the ethical issues that will be thrown up when DNA testing takes off. There are one million healthy carriers of the recessive gene for cystic fibrosis in Australia. Should they be “strongly discouraged” from having children with each other? If they choose to do so, do they still have the right to expect the rest of the community to fund their child’s care if it has cystic fibrosis?

Is it then only a matter of time until men and women start comparing DNA data on first dates and ruling out those who are insufficiently genetically blessed?

The ancestry aspect of these tests comes fraught with its own dilemmas. For example, what happens to a person’s sense of identity when they discover their clan’s history is a fairytale? “Every ethnic group thinks it’s more pure than it is,” observes Professor Williamson. “When you look into any family history, you always find there’s some Portuguese seaman or African slave who somehow got into the family and left their genetic trademark behind.”

In the TV series Faces of America, which aired on SBS earlier this year, Desperate Housewives’ Eva Longoria, who identifies as Mexican-American, discovered she was 70 per cent European, 27 per cent Asian and 3 per cent African and that she shares an ancestor with Chinese-American cellist Yo-Yo Ma. (Oprah Winfrey, having once proclaimed she was descended from Zulus, was reportedly devastated when DNA testing proved she wasn’t.)

So how long until an enterprising uni student discovers he has Aboriginal heritage and argues he should be entitled to Abstudy? What happens when someone finds out they’re part of a race they consider inferior? We’ll find out soon enough, but Professor Williamson is sanguine. “People can maintain their culture while recognising their genetic heritage is much broader than the single culture they identify with.”

As for me, after a month of fantasising about the possibility of having an exotic great-grandparent or predisposition to a fascinating medical condition, I found the results of my own test — that I was as white bread as I’d feared and could look forward to nothing more exciting than testicular cancer — a tad anti-climactic.

“Ninety-five per cent of the time, the test isn’t going to turn up anything significant,” Professor Williamson consoles me. “But if you are one of the five per cent that’s affected by a severe genetic disease, or a disease that’s partly genetic, getting that information in time to do something about it will be one of the most important things that will ever happen to you.”