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Decoding The Risks -

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NARRATION

Do you want a glimpse into the future? The secrets within our DNA hold extraordinary power. As a
former medical scientist, I've seen how advances in technology have revolutionised our
understanding of diseases. One of the fastest growing areas is genetic testing.

Assoc Prof Kristine Barlow-Stewart

There is a huge potential, for example, in drugs and personalised medicine.

NARRATION

Now there's the at-home genetic test kit, which promises to predict your risk of disease before it
strikes.

Romain Bonjean

We cover a whole range of disease, including heart disease, prostate cancer, all the auto-immune
diseases.

Assoc Prof Kristine Barlow-Stewart

The risk figure is not based on sound science.

NARRATION

I've set about to investigate whether these personal genome test kits are all they're cracked up to
be.

Dr Maryanne Demasi

I've often thought about getting my genome analysed. I'm intrigued by the idea of being able to
change my own destiny, to predict diseases and choose the best treatments. It's the promise of
personalised medicine.

NARRATION

Ordering a genetic test kit can be done simply online. Normally my family history would be the best
indicator of my future health. My parents are generally healthy, and my grandparents lived into
their nineties, with the exception of my maternal grandfather, who died of a heart attack in his
fifties. Could I be at risk?

Dr Maryanne Demasi

I'm a bit nervous now.

NARRATION

I collected my saliva sample containing the DNA from my cheek cells and sent it off. But are these
test kits a waste of time and money? Here in the Netherlands, a leading epidemiologist in genomics
says they are.

Prof Cecile Janssens

I think at this moment, the predictability of those commercial tests is really very, very low.

I can here click that I want to know my risk of disease.

NARRATION

Cecile decided to compare her own DNA test between two different companies - DeCODEme and 23&Me.

Prof Cecile Janssens

I compared my results for eight different diseases.

Dr Maryanne Demasi

So these are percentage risks?

Prof Cecile Janssens

These are percentage risks. But when you look here, see for heart attack, 23&Me predicts my disease
at eight point nine per cent, but DeCODEme at forty-one point three per cent.

Dr Maryanne Demasi

Wow, that's really different.

Prof Cecile Janssens

That's an enormous difference. Type one diabetes is also an enormous difference, the numbers are
smaller because it's a rare disease, but 23&Me predicts my disease risk to be point nine per cent,
and DeCODEme point 05 per cent. Which is almost an eighteen-fold difference.

Dr Maryanne Demasi

So how can they come up with such different results?

Prof Cecile Janssens

They have different results because they do the calculations in different ways.

NARRATION

Cecile explained that all companies begin their calculation with an average risk of disease. The
problem is, each company relies on information from different sources. And they use different gene
variations to calculate the risk. So there's no standardisation of results. Also your risk of
disease changes as scientists discover new genetic information.

Dr Maryanne Demasi

So you can't really trust the results that you get from different companies?

Prof Cecile Janssens

No.

Dr Maryanne Demasi

And it's not something that you would really know, because you would only test your results ...

Prof Cecile Janssens

... with one company.

Dr Maryanne Demasi

I'm getting more and more doubtful about the reliability of these tests.

Prof Cecile Janssens

Of the results, yeah.

NARRATION

There are also many factors that are not taken into account when assessing a person's risk of
disease.

Prof Cecile Janssens

What you should take into account is the lifestyle factors, because they have much more impact on
your risk of disease than the DNA valuations alone. If you really want to change your health
behaviour, then don't do it, but adopt a healthier lifestyle immediately.

NARRATION

This did start me wondering about my own test results. Back in Sydney, I logged into my account,
and it all seemed benign. Except one thing stuck me as rather odd.

Dr Maryanne Demasi

Hm, this is interesting, they've given me a prostate cancer risk of twenty-four per cent. I'm
pretty sure I don't have a prostate.

NARRATION

I thought it best I get some advice from an expert in genetics.

Assoc Prof Kristine Barlow-Stewart

It actually says you've got an increased risk for prostate cancer. It really should be zero,
shouldn't it? What they're saying is that your risk is increased over that of European men who
share your genotype.

Dr Maryanne Demasi

Right.

Assoc Prof Kristine Barlow-Stewart

Now you're a woman, why would they be comparing you to European men?

Dr Maryanne Demasi

They haven't personalised it to me, have they?

Assoc Prof Kristine Barlow-Stewart

They haven't. And the other concern too, of course is that all of your averages have been based on
risks for men. So um, it's concerning.

NARRATION

When I approached the head of Lumigenix, he was just as surprised as I was. After some
investigation, he discovered a mistake had been made. In not specifying my gender when signing up,
the computer automatically defaulted to a European male.

Dr Maryanne Demasi

But one might argue that within my DNA, there are my sex chromosomes, which are two X's.

Romain Bonjean

Yep.

Dr Maryanne Demasi

and not an XY so you should be able to identify whether I'm male.

Romain Bonjean

In the same way, we could also identify your ethnicity, but we don't, because you may have an error
in some read, not an error but a deletion, or you may be one of the one people out of a hundred
thousand that has a trouble expressing the Y or expressing the X.

Now that you switch it back to female with your right ...

NARRATION

Romain actually revealed it wasn't the first time that this had happened.

Romain Bonjean

We actually take all feedback on board, and will definitely address the oversight. In hindsight, we
probably should make it with a big red flashing panel.

Dr Maryanne Demasi

That's a relief, I thought my DNA was telling me I had a prostate.

Romain Bonjean

That's okay.

NARRATION

Despite their limitations, Romain believes these retail test kits are here to stay.

Romain Bonjean

So there's resistance against it because it's an emerging technology. In the near future, we think
that everybody will be sequenced, and probably at birth. And then we see a more targeted, more
personalised health care out of it, where drugs will be designed on the spot for your diseases,
with your genetic signature.

NARRATION

Personal genetic testing, now or in the future, may have unforeseen consequences. It might
influence your choice of a partner, and your prospects of getting a job or health insurance. How
this technology will affect you, only time will tell.