Should I Test My Genes? The Price of Life

This is the grave of my mother, Eva Wishart.

Last year, we buried her here.

I miss her every day.

In the last months of her life, the cancer ate away at her.

Late one night, close to the end, she became agitated.

She had the same disease as her mother and sister,

and as a doctor herself, she knew there was a risk she might have passed it on to her children.

And so I promised to investigate.

This is my search to find out whether faulty genes caused my mother's death,

and whether there's anything I can do to avoid a similar fate.

And with more and more people looking to find out about their genes, I want to know how we

as a nation are dealing with the new possibilities of genetic medicine.

'Ladies and gentlemen, the President of the United States.'

Today the world is joining us to celebrate the completion of the first survey of the entire human genome.

Without a doubt, this is the most important and most wondrous map

ever produced by humankind.

11 years ago, two of the most powerful men in the world

triumphantly announced that for the first time, each of the 30,000 genes

on the 23 pairs of chromosomes

in every cell in every human body had been identified.

Let us be in no doubt about what we are witnessing today - a revolution

in medical science whose implications far surpass

even the discovery of antibiotics.

With this profound new knowledge,

humankind is on the verge of gaining immense new power to heal.

So, are these promises becoming reality?

Is the NHS exploiting these enormous leaps in science?

Is the new knowledge helping us make life-saving decisions?

I'm starting my search by trying to find out what it all means for me.

What is my genetic inheritance?

My mother's sister is the family historian.

Aunt Judith had breast cancer seven years ago.

This is your family, Judith.

This was my grandparents, so your great-grandparents, and they'd come

from Lithuania when they were 18 - escaped.

So, Aaron Yankel, my grandfather, died of a stomach cancer.

He was in his 80s.

And so, of these six people, who had cancer? My grandmother had cancer...

Your grandmother had cancer, she had breast cancer, and it was operated on twice.

Aviva and Klara had cancer, breast cancer - it was never treated and they didn't die of it.

It certainly feels as if there's something going on in the family,

and when you look at the next generation you have the same situation.

We were 14 - seven of them have...or have died of cancer.

Benny, Eva,

Sonya, Anita, Miriam - died.

So, seven of your 14 cousins have had cancer.

Yes.

-This is my wedding.

-Right.

Your grandmother, your mother and me.

We all had breast cancer.

Everybody in that photograph had cancer -

aren't you afraid of having more cancer, Judith?

I'm fairly pragmatic about it.

But...

Erm...

It actually only hit me when Eva died. But it's a possibility.

I'm a very sort of...

I tend to be an unemotional person - or at least I hide it, maybe.

This news is profoundly disturbing.

I had no idea that cancer has riddled so many generations of my family.

And my fear is compounded because my dad also died of cancer, as did both his parents.

I'm going to the genetic counsellors at Guy's Hospital in London.

The NHS invests over £100 million in these services every year.

It's reassuring to be in their capable hands, but I'm nervous about what they might find.

This is you here with an arrow. The circles are the women and the squares are the men.

We build up the family tree, so this is your father's side

of the family and this is your mother's side of the family.

So, if we look at your father's side of the family first,

the ages they were at, the fact they had different types of cancer,

this is not increasing your risk for cancer on this side.

-Most cancer is not hereditary.

-What's the proportion?

Only about 5% to 10% of cancers are due to a genetic susceptibility,

a mistake in a gene passed down through the family.

If, somewhere up here, say your grandmother had a mistake or mutation in one of those genes,

it would mean that each of her children would have a 50/50 chance of having inherited that from her.

And as they both had breast cancer, it is possible they might have inherited it -

and then that would mean that each of their children would have a 50/50 chance.

We don't know about your mother because we haven't been able to test her, but it's possible that

your Aunt Judith might have a genetic susceptibility in one of those genes.

If she does have, then we'd have to make an assumption that your mother also had it,

and then you and your sister would both have a 50/50 chance of having inherited that as well.

The best person to start by finding out about it

would be your Aunt Judith, because she's had breast cancer.

The NHS will take it one stage at a time.

They're testing Judith, as she's already had cancer, and they hope to find our family's faulty gene

in her DNA, which would then make it easier to search for it in me.

So all I can do is be patient...

or give in to temptation.

The internet is awash with companies that may not look in as much detail at my family's cancer genes,

but they'll search much wider - for many more diseases.

"23andMe was founded to empower individuals

"and develop new ways of accelerating research.

"We believe that having the means to access one's genetic information is good.

"We believe that your genetic information should be controlled by you.

"With a simple saliva sample,

"we'll help you gain insight into your traits."

It is amazing that I can send off a piece of spit

to America, and they can come back telling me what my genes are.

"Let your DNA help you plan for the most important things in life.

"Take charge of health and wellness today. All for 499."

So I pay my money and take my chance.

It's amazing they can get my DNA out of my cheek spit. I think I'm done.

Here is my very own DIY sample.

When you tap that consent form, it did say something like,

"You may learn information that you're unprepared for."

A bit scary.

A little nervous, I suppose.

But I still think that all information is good, probably.

So it's good to find out what's going on inside of me.

As I go further, I discover there are some conditions you might not want to find out about.

Huntington's disease begins with a single fault

on a gene on the fourth chromosome

which causes the slow mental and physical destruction of the person.

Susan's been bedbound for a decade, and is now completely paralysed.

Her daughter Alex has a 50/50 chance of inheriting the disease.

I'm visiting their home, but I can't film Susan because she can't communicate her consent.

She can't walk, she can't talk, she can't eat,

because the Huntington's has developed so far now

that's it's affected the swallowing.

Not being able to do anything

must just be horrific, and a living nightmare.

It didn't affect me when I was younger, but the older I'm getting and obviously seeing her now,

I just think, shit, that could be me in 20 years.

It could be me in five years, ten years, I don't know.

I have no idea.

It may never be me, I might not even have the gene.

It's that double-edged sword of...

..finding out if...

I'm going to end up like my mum, and if I've...

SHE SNIFFS

SIGHS

..if I've got the gene,

then what does the future hold for me and my daughter?

Because if I've got it, then she's got a 50/50 chance of getting it.

And it kills me.

Hello, how are you?

You had a nice sleep?

That's my favourite one - my nan's first wedding.

I think she was 19, 20.

She's just so beautiful. She still is.

Sad. It's just weird because I just can't imagine her like that.

It's like a little Pac-Man that eats your brain, so different functions stop working.

I'm scared of the disease.

Not me getting it, but my mum getting it

and having to lose my mum to a horrible disease.

But at least I've known my mum - that's one good thing.

The thing about Huntington's is that if you've got the gene

you'll inevitably get the disease.

So what's the point of a test?

That's why I said it's a double-edged sword,

because I want to know if I haven't got it, but I don't want to know that I have got it.

That's the dilemma that I'm in.

And it just eats away at me every day.

What should I do?

I should do it because I owe it to Lucy.

I think if I've got it, then what kind of life will she have,

having to look after me like I've had to look after my mum?

I don't want her to look after me, I don't want her to go through

what I went through, it's not fun.

It's a huge, like...

God, I'd just love someone to just lift it off my shoulders and go,

"It's OK, you haven't got the gene, it's fine." Pat you on the head, bye!

Alex decides not to take the test.

Her daughter Lucy will face the same dilemma in a few years, when she turns 18.

When I began, I thought it's great, everybody finding everything out,

that would be a perfect world, we could all plan our futures.

I guess seeing them,

I think, it's a kind of Pandora's box,

sometimes it's better to know, sometimes it's better not to know.

But for many diseases, a genetic test is far from pointless.

With breast cancer, which has so ravaged my family,

a test may be the first step towards prevention.

I'm on my way to Kent to see Julie,

who's recently been told she carries a breast cancer gene.

My mum, we knew when she moved downstairs

into the lounge there was something wrong - she couldn't get out of bed.

My dad, when she first went into hospital, my dad coming back

and talking to my nan and granddad, but standing at the window

of my nan's place and saying, when they opened her, they described it as a garden full of weeds.

There was no longer any flowers growing.

I have her on this pedestal, that she was the most perfect person in the world.

All I've got is happy memories.

The only sad memory I've got is her laying in bed asleep on the day she actually died.

Just sleeping, and us laying next to her. Sorry.

You'd think after 33 years you could get over something like this, but you just don't.

The death of her mother when Julie was a child

was only the first time the disease was to strike her family.

My sister, when she got diagnosed...

it was just like someone had put a knife through my heart, I really could not believe it.

And I think that's when we started to think and wonder,

"Maybe something's not...right,

"maybe something's not quite right."

Julie's fears have been confirmed by her genetic counsellors.

She has an 80% chance of developing the disease.

The test result came back.

I left it on the table for about an hour, I think.

Opened it, was absolutely gobsmacked.

Could just not believe I had it. Just could not believe it.

I got really angry.

Then I started crying.

What is the decision that you've made?

Erm, to have a double mastectomy, which is...

I'm doing it where they are removing all my tissue inside my breasts.

I am keeping all my own skin and my own nipples

and then they will put an implant into that.

But it is the mutilation of your body.

Yeah, but it...

If it's keeping me alive, then...

That's how I look at it.

The worst thing about it is, the only part of my body I really like are my bust.

Because as you get older, everything goes in different directions -

you get cellulite and varicose veins and everything

but my boobs have always stayed in the same place.

It's the only part of my body that I think,

"Yeah, they don't look too bad for a woman my age."

So that side of it, you know, to start with, I'm thinking,

"Why my bust? Why couldn't it have been my bum cheeks or something?

"Why did it have to be my bust?" But now, I know I'll be fine.

It will just take me a while to get used to them again.

Inherited breast cancer arises from flaws on the BRCA genes

on chromosome 13 and 17.

These are the flaws that my family may have,

and which are more common among people who share our Jewish heritage.

And although I'm a man, I can still get breast cancer,

and these genes increase the risk of cancer of the prostate.

My aunt's test results have arrived.

Don't really want to see it. Let's see what we've got.

"No faults have been detected

"in the BRCA1 or 2 genes in your sample.

"The result reduces the possibility that you develop cancer

"because of an inherited genetic fault."

-How do you feel about this?

-Yes, I think I'm pleased.

I'm ambivalent.

It seems almost that you think that there's definitely a gene there

and not finding it just leaves open the possibility it's somewhere else.

I still think...

that it just means they haven't found it yet.

I think it's really good news, in a way.

It's really good news, cos I think...

It will have more of an impact on you, in a way.

Because I've already had at least one cancer,

and therefore my risk was probably lower of having another one.

Whereas you're in the situation of looking to the future. Good. Yes.

So from your point of view, what do you understand that that now means for you?

I think that reduces the likelihood that I've got those genes,

that I've got the mutations.

As your mother and grandmother had breast cancer young,

and there's all those other breast cancers,

Judith might have had it as a sporadic breast cancer.

We can test you to see if you have one of the Ashkenazi Jewish mutations,

which might explain why your mother had breast cancer.

So, it reduces the chance a bit for you,

but it's still possible that there could be a different gene mutation

or one that your mother had which you might have inherited.

Is there a sense of how likely it is that I have one of those mutations?

At the moment, the chances for you of having a gene mutation

are higher than in the general population.

If you mother had it, then you would have a 50/50 chance of having inherited it.

OK, so if you want to go ahead, we can take the blood sample today.

So even with Aunt Judith in the clear,

my mother might still have had a bad gene,

and so might I.

This needle will give insights into my family's tragic history.

And it could offer the promise of a healthier future.

It'll be two weeks until the result arrives.

Julie's also in hospital, preparing for her breast removal.

Obviously, from the mastectomy point of view,

have you thought about preserving the nipple?

I'd like to keep...

I'd just like the insides taken out and the skin and the nipple left.

The risk reduction from the mastectomy in general amount to 90%.

There is some indication that, if the nipple is left behind,

this may compromise this risk by about 1%.

In other words, instead of 90% risk reduction, it will be 89%.

-I think can live with that.

-You can live with that?

-Yeah, I can live with that.

It changes everything.

It changes the way you think.

-Do you regret having the test?

-Yeah.

Yeah. Cos I never wanted it done.

If it came back that you had it, how would you feel?

I don't know, really.

Until today I thought, "Oh, everybody's dying of cancer.

"I'm bound to get it in the long run."

Knowing might be a good thing,

but seeing you go through today, I'm not... You know.

I don't think anybody can answer it until it happens.

I was so positively sure that I didn't have it

that it really knocked me for six.

What I want them to say

is that I haven't got it and everything's fine.

Yeah, but it's not going to happen like that.

Sometimes I think it's best not knowing.

That's how I feel, it's best not to know.

But there's another reason why I do want to know.

What about any children I may have?

Could I prevent them from inheriting the cancer gene?

Tracey and Thomas are asking the same question.

They don't have the breast cancer gene, but something else.

A piece of Thomas's chromosome one

has swapped places with a part of chromosome six.

It means Tracey's never been able to have a healthy baby.

The whole reason we found out was due to miscarriages and the loss of our boys.

When Tracey fell pregnant with the twins - overjoyed!

More than we could ever hope for. Went into premature labour

and they didn't survive.

We then had some genetic testing done,

where we were told that Thomas had the...

translocation of genes.

And when they were doing history checks,

they found that, actually, my dad's got the same condition.

We've been trying since we were married. So it's been four years.

I'm glad there is hope out there, that we could have at least one child.

Now they're embarking on one of the most remarkable benefits of the genetic revolution,

a procedure called pre-implantation genetic diagnosis - PGD.

So that's the needle there, in the follicle.

If you watch, when I put the suction onto the needle,

the fluid in that follicle will be sucked through the tubing,

and that follicle will gradually collapse.

And that tube is being passed to the embryologist.

They'll empty the fluid into a dish, look down a microscope

to look for the presence of an egg in the dish.

It's basically IVF.

In a test tube, they'll fertilise Tracey's eggs with Thomas's sperm,

hoping to produce the maximum number of embryos.

We're happy that it's finally on its way.

We're getting there.

Then comes the whizzo science.

They make a hole in the shell of each eight-celled embryo

and suck out a single cell.

These are then genetically tested

and if they find one that doesn't contain Thomas' chromosome fault,

they'll transfer that embryo into Tracey.

We're just rolling the dice now.

Sometimes we can be lucky and the odds are in our favour.

Of the three, any of them might come back with a normal result.

With PGD, elemental flaws of nature are now fixable by human hands.

I've come to Cambridge to meet Dan and Lizzie.

When they met, they didn't know they each carried a flaw on the seventh chromosome.

They only found out when the two flaws came together in Isaac.

-Am I right, you've got cystic fibrosis?

-Yeah.

What does that mean?

I have more coughs.

-You've got more coughs?

-Yeah.

HE COUGHS WEAKLY

No, come on, do a proper one.

HE COUGHS LOUDLY

Isaac is at risk of serious lung infections.

He takes more than 30 pills a day,

and has to have regular physiotherapy.

His mucus is a lot thicker than a person without CF and...

we are basically helping it all move around.

So I can eat more cakes.

That's what patticakes is for?

Yeah, so I love patticakes.

Cos I get more cakes.

How will CF affect the rest of his life?

It's degenerative, so he'll get worse as he gets older.

He has a heightened chance of lots of other things,

such as CF-related diabetes, liver disease, osteoporosis.

They talk about median life expectancy at the moment being 37.

Every couple has an idea in their head of how many children they'd like.

We always thought we'd have three or four.

So suddenly to have one and know that we were carriers of this genetic disease.

What is the chance of you giving birth to another CF child?

One in four.

Isaac has a good life, but it's also quite a complicated life.

I'd rather...

rather not put another child...

If I had an opportunity not to have a child with CF,

I think we took it with both hands

because it's not the nicest disease to have, really.

So Lizzie and Dan opted for PGD.

On their first attempt,

one of their embryos was identified as not having the cystic fibrosis flaw,

and it grew up to be the small and perfectly-formed Anouk.

The decision was undoubtedly the right one for our family

and I have no doubts about it at all.

Now we have this wonderful, healthy daughter

sibling for Isaac, and she is amazing.

I look at her and think, "She's a miracle of science."

-Some scrambles?

-Yes.

How's the scrambled egg, Anouk?

She doesn't really talk, you know!

LIZZIE LAUGHS

It's wonderful that diseases like cystic fibrosis

can be prevented from passing down the generations.

But PGD is expensive -

it costs the NHS £8,000 a cycle, and most cycles fail.

It's time for Tracey to discover whether the hospital has found a good embryo.

I was shocked when they phoned me and said there were only six out of the 20 that fertilised.

I was a bit shocked by that,

and then to get the call this morning saying that only three were viable

for the biopsy, I was like, "OK, not what I was expecting."

So I'm certainly nervous.

It's the worst thing ever.

Sitting here, constantly watching it.

It's when you don't look, that's when it rings.

MOBILE RINGS That could be them. Hello?

'..come back with normal results, so well done.'

Brilliant.

'A sigh of relief.'

It certainly is!

'Are you OK?'

Yeah, just glad at least one's come back fine.

Bizarre going from 20 eggs down to one.

Certainly a big drop, but at least there was one

that was absolutely fine, which is fantastic.

24 hours later,

the one good embryo is delicately placed inside Tracey's womb.

Now they must wait again to see if she's pregnant.

-Well done, that went very well.

-Fingers crossed.

See how we go.

-Best of luck.

-Thank you very much.

Obviously we'll still be a bit concerned

with what's happened in the past about premature labour,

but I think we're going to be a bit more at ease,

knowing that at least we know it is balanced or normal.

Is pre-implantation genetic diagnosis a panacea for us all?

If I had a cancer gene, would it be right for me?

One of the world's leading cancer experts isn't so sure.

There's a phenomena in genetics and cellular development

called co-expression of genes.

Two genes can be stuck together.

That means if I've one gene, I might also come with another gene?

It is likely,

if you've got the mutant gene, that may also be co-expressed

with other, favourable components of the human genome.

In breeding out the BRCA1, BRCA2 mutation,

you may inadvertently be breeding out something of value.

Because just say that the gene or the complex of genes for beauty,

or, say, a complex of genes for high intelligence,

so there is a risk that if we select out all the embryos

that carry these mutations, we may be selecting out some of the best people in society.

Now, you think that is facetious.

I don't know. It may not be beauty and intelligence, but it may be something else

that has an evolutionary advantage that compensates for the evolutionary disadvantage.

Professor Baum leaves me confused.

There was so much about my mother that I loved,

and would be loath to lose in my children.

But maybe it's my duty to prevent disease being passed down the generations.

I'm going to Newcastle to meet Daniel and his partner Danielle.

They're true pioneers, one of only a handful of couples

now using PGD on the NHS to breed out the breast cancer gene.

A gene which killed Daniel's sister at 28.

It's quite hard to watch somebody go through all that.

Optimistic one minute, and then the next to receive another diagnosis

that would mean some more therapies.

I guess I'm slightly uncomfortable about messing with nature.

I think we'd feel a lot less comfortable with the idea if we were being more selective.

-If we were saying we wanted a boy or a girl or...

-Yeah. Absolutely

Cos the other option we were given was to conceive naturally

and then to have a gender test and have a termination if it's a girl.

I just couldn't do that.

It does make me think about, would I...

want to prevent a child of mine going through what my mum did?

If science has given me that power to do something about that,

then really I should use that power.

That's something that... the human race has created.

It's part of the history of our progress.

For me, that's an opportunity, really.

It could happen naturally.

The child we end up with, we could have conceived naturally.

It's just the risk factor.

Getting back to your family history, Adam,

about your mother developing cancer

when she was much older than, say, my sister,

but there's no guarantees that, if it was a genetic cancer,

that it would be as late-onset as that.

It's that sort of level of...unknown...

It's that unknown element, which...

if I can at all take control of something, I would do so.

I suppose that's what I'm doing here.

Daniel and Danielle will go through PGD later in the year at Guy's.

Meanwhile, it's time for Tracey and Thomas

to discover if their embryo has survived.

Today is the day we do the pregnancy test

to find out if it's worked or not.

Very excited, but also very nervous.

-Fingers crossed that it's positive.

-Yeah.

It feels really bizarre,

-knowing that this is make or break now.

-Yeah.

Nervous.

Really nervous.

I haven't even looked.

We have to wait three minutes.

-This is the worse three minutes ever.

-Yeah. Could be the longest as well.

You OK?

-Do you want me to do it?

-You do it.

Right. If it's positive, there'll be two blue lines.

So this determines hopefully the rest of our lives.

Do you want to do it?

Two blue lines. Pregnant! Fantastic!

Can't believe it's worked. First time. I'm shaking.

Brilliant. Confirmed, positive result, two blue lines.

Oh, well done!

That's fantastic. Better start planning.

-I can't believe it.

-That's our first time round.

PHONE RINGS

Hi, Mum, it's only me.

Did the test.

Yeah, it's positive.

The NHS provides PGD for hundreds of couples each year.

But there are millions of people in Britain at risk of inherited diseases.

I want to know if this brave new world of genetics is reaching them all.

One of the commonest conditions is called familial hypercholestrolemia.

Or FH.

Norman's a shopkeeper who's had high cholesterol all his life

and takes a statin drug to control it.

He never imagined it would be a disease that could be passed down the generations.

I thought this was something I had and that was it.

I always put it down to the fact that my mother gave me milk.

Every day, I had to drink milk and if it wasn't milk, it was Nestle chocolate.

Absolutely nothing.

I know my father has suffered from high cholesterol for many years.

But, you know, you just... "OK, it's high cholesterol."

It's like having asthma.

It's like any other... I didn't think much of it.

I didn't connect the dots to heart attacks or anything.

I never connected it.

Norman's lucky.

He's one of the few people in England who's been tested for FH.

Your liver is not effective in removing the LDL cholesterol.

-I understand.

-That's why your cholesterol becomes high.

This is determined by a gene defect.

And that is what they have found - the gene defect responsible for this.

This is not going to help you but it will help your family.

You have two daughters who have not been screened.

And you have grandchildren?

I have.

OK. Then we need to screen the grandchildren after we've screened your children.

Norman's family will now be tested.

The sooner FH is detected,

the sooner the life-saving statin drugs can be started.

But this testing service isn't paid for by the NHS,

it's part of a research study by Professor Steve Humphries of University College London.

Untreated, about half the men with FH will have a heart attack by the age of 55 years.

For example if I have FH I must have inherited it from my mum or my dad.

Half of my brothers or sisters on average will have it as well. And of half my children.

So once you've found me -

because I've developed early heart disease -

then, on average I've got five living relatives,

if you test them you'll find two or three with FH.

We call it cascade testing - testing the relatives of those who have FH.

It's a very cost-effective way of finding new FH patients.

How much cascade testing is happening in England?

Well, that's the part that really upsets me.

Cascade and DNA testing are not occurring almost anywhere in England.

However, it is occurring very much in Wales, Scotland and in Northern Ireland.

In the UK there are about 100,000 FH patients

who have not been diagnosed yet.

Half of them are men,

half of them are going to have a heart attack by the age of 55 unless we can find them.

It makes no sense. It's almost a scandal we're not doing it, not taking this forward.

Why is the NHS not getting its act together?

They just don't see it as a big problem.

Everybody agrees that doing this is cost effective.

But when we go to a primary care trust or a GP and say,

"Look, it would be good for you to commission this, it's cost-effective."

They say, "Will it save me money in the next 12 months?"

Because those are the budgetary constraints they have. We say "No.

"It'll cost you money now, but it'll save you money

"in year two and three because people won't be having heart attacks."

I think the NHS - and I don't mean it in a derogatory way,

because it's a great institution.

I've lived in a few countries and I've never found an institution like this -

but there are times they let the people down.

This is one of them.

It is shocking to learn there are 100,000 people

with a fatal disease that should easily be detected.

And I've learnt that it would cost less than £10 million a year to find and treat these people.

For other diseases, there is also a slowness to embrace the brave new world of genetics.

Sickle-cell anaemia is another of Britain's most prevalent genetic diseases,

with a quarter of a million people being carriers.

Starting in childhood, crises attack every few months.

In London, it's now one of the commonest reasons for admission to hospital.

Simeon has just arrived in hospital in South London.

His mother Helen is at his side.

He'd gone skating with his friends,

but as he got off the bus and walked down the road,

he just felt his legs going and he had this pain in his stomach and hips

and then he found himself literally on the floor.

And it was only because his friends had seen him and they picked him up and called the ambulance.

When we got here they'd given him a small shot of morphine, so that helped stabilise the pain.

-How often does it happen?

-It happened probably about every four, five months.

I'm hoping he'll learn to live with it,

because this is the only thing to do, there isn't a cure for sickle-cell.

All this could be prevented if I had learnt about my sickle-cell genes and how they pass on,

but I don't think in our times we were given that choice of a sickle-free life.

I don't think we were given that choice.

Helen has spent much her life in and out of accident and emergency,

because she, Simeon, and her daughter Mischa all have the disease.

Sickle-cell is a red-blood disorder.

And instead of cells being a circular shape, they're a sickle shape.

And sickle is like a half-moon shape.

So usually the red blood cells - or even your white blood cells -

they flow down the arteries and your veins quite easily

but when they're half-moon shape, they can get stuck going down or can clump together.

And it becomes difficult.

It feels crazy.

Crazy, crazy, crazy.

It just feels like sharp pains...

mixed with somebody constantly stabbing you, having no mercy.

Then you've got to get the morphine.

To me that's like, "Ahhhh..."

Because it's so great.

Wipes out all pain, doesn't it?

Wipes out all pain, if you get a good dosage of it.

It feels like the worst thing, like, "Oh, my days, why didn't I...

"think about how this would affect her before I was having children?"

It's really awful to see your own child in pain like that.

Sickle-cell is passed on when both parents are carriers.

The NHS offers a test in pregnancy -

by which point, the only way to prevent a sickle-cell birth is abortion.

And even then, the system only works if both parents have been tested at an early stage.

So Helen's now chasing the 50% of fathers who aren't tested.

We go and arrange screenings for the sickle-cell DVD.

It's called The Family Legacy.

It's important to raise awareness, because sickle-cell's a silent disorder.

Because it's a black disorder, it doesn't get a lot of publicity.

Sickle-cell is really rare, right?

One in every 2,000 births

but one in every four West Africans is a carrier.

If you are a carrier of the gene,

we'd like the father to come in for a screening also.

Can I have your attention, please?

Because men are finding it hard to come in and get screened

to see if they've got the sickle trait or not,

a lot of the time when it does happen in real life,

it's always blamed on the woman, and the woman can't have a full sickle-cell child on her own.

She needs one trait from the father, one from the mother.

-Are we unknowingly spreading sickle-cell?

-Yeah.

This is why we're doing the awareness programme.

We're ignorant. We're ignorant of the fact.

I'm a carrier myself.

I found out in similar circumstances like in the movie.

My partner was pregnant, and I found out then.

My partner's a carrier as well, so the question was posed,

what did we want to do?

I didn't think that was the reason to abort a child or anything.

I wouldn't do that.

But surely there's another way?

One which might prevent such difficult decisions

being forced on parents in the excitement of pregnancy.

Preconception is the way to go, really,

because then it means people are aware of their genotype before they actually conceive.

This will do that, this sort of session will do that.

If you're encouraging people to go for testing,

this actually could lead to preconception.

I'm assuming some of these young men are going to go on and conceive.

People go to the doctor's every six months to get a check-up

to make sure we don't have any AIDS, chlamydia, hepatitis, et cetera.

Why can't they just take another test for sickle-cell as well?

Kill two birds with one stone.

Shouldn't the NHS offer to test everyone long before they conceive

so they can have many more choices?

They could then opt for PGD, or choose sickle-free partners

as well as abortion.

In Nottingham, GP Nadeem Qureshi is already ahead of the game...

..in offering preconception testing to all his patients.

Like in this practice, as soon as a patient registers,

they're offered the sickle-cell and thalassaemia screening test.

What's the shortcoming of how the NHS deals with it at the moment?

It's not thought about at all.

We're at the point where we're developing the technology.

It's a bit like you've got yourself a customised car,

a car that just goes for a Frankfurt Motor Show.

No-one's thought,

"How do you go from that to the car that's out on the street?"

What should GPs be doing about sickle-cell?

Sickle-cell, at the moment, there's a national screening programme for sickle-cell,

which is at the antenatal stage.

Talking to patients, they're asking,

"Why can't this be offered pre-pregnancy?"

The only setting where pre-pregnancy sickle-cell screening can take place,

is in the primary care setting.

In that way, they don't have to worry as soon as they get pregnant,

"Oh, am I at risk?"

They've already thought through the process - "Am I at risk of sickle-cell?

"If I'm at risk, what options are open to me?"

So should the NHS be offering much more screening for genetic conditions?

Should we all be tested for everything?

I've come to the NHS body who make these decisions,

the National Screening Committee.

Their director is Anne Mackie.

To test for the genetic conditions on the individual thoughts of a GP

means that they might be offering tests which are not accurate,

are highly likely to give false positives,

that a positive test doesn't necessarily mean you're going to get the disease.

There are reasons why just saying,

"I think I should offer these greater ranges of tests," isn't a good idea.

If I'm a GP and somebody comes into my surgery asking for...

advice about family planning

and I'm in at risk group for sickle-cell,

your advice would be that no discussion about hereditary disease happens?

If people want to find that out, that's up to them.

It's back to this business of, if you're the patient

and you come along and say, "I want to know some of these things."

If you're going to find out about fertility

and you don't know anything about sickle-cell,

then it's not the GP's job to say,

"Did you know there's a disease that you might be at risk of?

"And we have a test for it."

We haven't either recommended or rolled out a programme

that says GPs should be offering information like that

to everybody who comes in these circumstances, no.

But we're actively looking at whether we do that and how feasible that is.

The ethics are so different.

If a person wants something for themselves,

there's a conversation about whether that's helpful to them or not

or whether they understand what it is.

That's different from offering something they've never heard of

and have never worried about before,

because we know that we'll do some people harm. We'll give some people the wrong result.

I hope that these considerations bear fruit soon

because although we might not want the NHS

to systematically test each of us for every risk,

surely it's the role of doctors

to warn us all of our genetic possibilities?

And then we can make the decisions.

That's what I did and my results are now in.

Yesterday was the anniversary of my mother's death.

She died a year ago, and today I'm going to find out

about whether or not I have a cancer gene.

Actually, I'm really worried about it.

I don't know how I'll deal with it if they tell me I have this gene.

I don't know if I really want to know the result,

but it's in your folder, so I suppose I should...

The result is good news.

Right.

We didn't want to find one of those gene mutations.

"No mutations detected."

-Not in those three mutations that we've looked at.

-Right.

Does it change my risk for developing cancer at some point?

From what we've got here, yes, your risk of cancer,

because of your family history, possibly is higher than other people

because you've still got a family history that's unexplained.

But we can't say from the testing we've done

that it's higher than perhaps you thought it was to start with.

It may be lower than perhaps you thought it was to start with.

But it doesn't answer all the questions in your family.

It's weird that...

..when I set out on this, I wanted some certainty

and it's weird that the good news that I haven't got this gene

is almost more frustrating than the bad news.

There's still a spectre out there.

Modern science hasn't been able to identify it,

and I just don't know what it is.

Even if we had found a gene mutation in you,

there still wouldn't have been certainty.

You still wouldn't have known if you're going to get cancer,

when you might get cancer or how it might happen.

This testing can only answer some of the questions.

It doesn't answer all of the questions.

It's a relief not to have the bad gene, and I'm glad I was tested

and availed myself of the choices in this new era of genetics.

But for others, the benefits are even greater.

Nine and a half weeks...

Tracey is in the final weeks of pregnancy,

further along than she's ever been before.

I was very happy when I found out it was a boy.

Everybody round the scan area knew!

Deep down, I wanted a little girl, as every woman wants.

They always want a little girl, but I'm happy that we've got a boy.

It's going to be strange, especially bringing him home.

Deep down, I still miss the boys.

These are our little booties left over from we had the twins.

We bought them, never going to be used.

We didn't want to get rid of them, so we kept them.

If it wasn't for PGD, we wouldn't be this far long now.

Or even be pregnant at all.

We'd probably looking at a life of either adopting or...

..just not having children.

Obviously after Carl's been born, we'll get him tested

to find out if he does have it.

Hopefully he doesn't. I'll be very happy if he doesn't have it.

It'll be nice to make sure that stops with me.

It's not going to continue, it's going to stop here.

The new wave of genetic knowledge

has transformed Tracey and Thomas's lives.

There seems to be no limit to the information

that could benefit us all.

I've just had a message from California.

The subject line of this e-mail is, "Your genetic profile is ready."

Well, I'm going to click on my health results.

There you go. Yes, I want to review my results.

It confirms I haven't got a breast cancer gene.

Familial hypercholesterolemia type B, haven't got.

A whole collection of others that I've never heard of. Elevated risks.

Atrial fibrillation.

Adam Wishart...

"47 out of 100 men of European ethnicity

"who share Adam's genotype will develop atrial fibrillation

"between the ages of 0 and 79.

"Whereas in general,

"only 27 out of 100 of men of European ethnicity will develop it.

"Atrial fibrillation is characterised by chaotic electric signals in the heart

"that can cause the upper chambers, the atria to quiver.

"Whilst it's not life-threatening on its own, it can have deadly complications."

I feel really uncomfortable that at some point in the future

I might get arrhythmia of the heart or whatever it is.

I asked for it, I chose to go down this line

and the company provides me with the information that I asked for.

I mean, I do think I was a bit foolish in asking for it...

..since I've got no way of dealing with what it says.

I'm going to try and speak to someone at Guy's about what this means.

There's another genetic counsellor who knows all about these DIY tests.

I got the results and apart from anything else,

I'm a bit worried because it says that I've got roughly a 50/50 chance

of having atrial fibrillation, whatever that is.

Which seems to me to say that I'm going to die of a heart disease

in the not-too-distant future.

What's important is to put this into context.

This gives the risk of a person with your genetic variation

get atrial fibrillation between the ages of 75 and 79.

What it's really saying is

that most of the risk is after the age of 75.

All of us are going to get some kind of disease as we get older.

It's a fact of life.

-So have you ever done this?

-No, I never would.

I only want to find out things about myself that are useful

and I could do something about.

I don't want to find things out that I'll just worry about.

My question back to you is,

what have you gained by finding out this information?

Part of me naively hoped that it'll tell me something

about how I was at maximum good health

-and I wasn't going to get anything, ever.

-Yes.

Now that I've got a 50/50 chance of having atrial fibrillation...

..I've just learnt worry, I think.

You strike me as somebody who worries about their health anyway.

In the course of making this programme, I've caught hypochondria.

Of course, I am relieved that the secrets of my blood

don't foretell a terrible destiny.

Even if that means I still don't know

whether there was a genetic element in my mother's breast cancer.

One thing I've learnt is that

whilst the NHS is brilliant at delivering this immense new power to heal,

it's better at serving the lucky few.

But there are the many who are at risk from serious diseases

that are easily detectable and managed, if only they knew.

The tragedy is that thousands of people could be saved from suffering

and precious resources - the cost of their care -

could be redirected to other patients in need.

Subtitles by Red Bee Media Ltd

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