0:00:04 > 0:00:08This is the grave of my mother, Eva Wishart.
0:00:09 > 0:00:12Last year, we buried her here.
0:00:19 > 0:00:20I miss her every day.
0:00:22 > 0:00:27In the last months of her life, the cancer ate away at her.
0:00:28 > 0:00:33Late one night, close to the end, she became agitated.
0:00:33 > 0:00:37She had the same disease as her mother and sister,
0:00:37 > 0:00:44and as a doctor herself, she knew there was a risk she might have passed it on to her children.
0:00:44 > 0:00:47And so I promised to investigate.
0:00:47 > 0:00:52This is my search to find out whether faulty genes caused my mother's death,
0:00:52 > 0:00:57and whether there's anything I can do to avoid a similar fate.
0:00:57 > 0:01:03And with more and more people looking to find out about their genes, I want to know how we
0:01:03 > 0:01:08as a nation are dealing with the new possibilities of genetic medicine.
0:01:18 > 0:01:23'Ladies and gentlemen, the President of the United States.'
0:01:23 > 0:01:30Today the world is joining us to celebrate the completion of the first survey of the entire human genome.
0:01:30 > 0:01:34Without a doubt, this is the most important and most wondrous map
0:01:34 > 0:01:36ever produced by humankind.
0:01:36 > 0:01:3911 years ago, two of the most powerful men in the world
0:01:39 > 0:01:46triumphantly announced that for the first time, each of the 30,000 genes
0:01:46 > 0:01:48on the 23 pairs of chromosomes
0:01:48 > 0:01:52in every cell in every human body had been identified.
0:01:52 > 0:01:57Let us be in no doubt about what we are witnessing today - a revolution
0:01:57 > 0:02:02in medical science whose implications far surpass
0:02:02 > 0:02:05even the discovery of antibiotics.
0:02:05 > 0:02:07With this profound new knowledge,
0:02:07 > 0:02:10humankind is on the verge of gaining immense new power to heal.
0:02:11 > 0:02:14So, are these promises becoming reality?
0:02:14 > 0:02:20Is the NHS exploiting these enormous leaps in science?
0:02:20 > 0:02:24Is the new knowledge helping us make life-saving decisions?
0:02:28 > 0:02:32I'm starting my search by trying to find out what it all means for me.
0:02:32 > 0:02:35What is my genetic inheritance?
0:02:37 > 0:02:41My mother's sister is the family historian.
0:02:41 > 0:02:45Aunt Judith had breast cancer seven years ago.
0:02:46 > 0:02:48This is your family, Judith.
0:02:48 > 0:02:52This was my grandparents, so your great-grandparents, and they'd come
0:02:52 > 0:02:57from Lithuania when they were 18 - escaped.
0:02:57 > 0:03:02So, Aaron Yankel, my grandfather, died of a stomach cancer.
0:03:02 > 0:03:03He was in his 80s.
0:03:03 > 0:03:08And so, of these six people, who had cancer? My grandmother had cancer...
0:03:08 > 0:03:13Your grandmother had cancer, she had breast cancer, and it was operated on twice.
0:03:13 > 0:03:21Aviva and Klara had cancer, breast cancer - it was never treated and they didn't die of it.
0:03:21 > 0:03:25It certainly feels as if there's something going on in the family,
0:03:25 > 0:03:29and when you look at the next generation you have the same situation.
0:03:29 > 0:03:34We were 14 - seven of them have...or have died of cancer.
0:03:34 > 0:03:36Benny, Eva,
0:03:36 > 0:03:42Sonya, Anita, Miriam - died.
0:03:43 > 0:03:48So, seven of your 14 cousins have had cancer.
0:03:48 > 0:03:49Yes.
0:03:49 > 0:03:51- This is my wedding.- Right.
0:03:51 > 0:03:56Your grandmother, your mother and me.
0:03:56 > 0:03:57We all had breast cancer.
0:03:57 > 0:04:03Everybody in that photograph had cancer -
0:04:03 > 0:04:06aren't you afraid of having more cancer, Judith?
0:04:08 > 0:04:11I'm fairly pragmatic about it.
0:04:14 > 0:04:16But...
0:04:20 > 0:04:23Erm...
0:04:23 > 0:04:29It actually only hit me when Eva died. But it's a possibility.
0:04:29 > 0:04:32I'm a very sort of...
0:04:32 > 0:04:37I tend to be an unemotional person - or at least I hide it, maybe.
0:04:46 > 0:04:49This news is profoundly disturbing.
0:04:49 > 0:04:54I had no idea that cancer has riddled so many generations of my family.
0:04:54 > 0:05:01And my fear is compounded because my dad also died of cancer, as did both his parents.
0:05:03 > 0:05:08I'm going to the genetic counsellors at Guy's Hospital in London.
0:05:10 > 0:05:14The NHS invests over £100 million in these services every year.
0:05:16 > 0:05:23It's reassuring to be in their capable hands, but I'm nervous about what they might find.
0:05:28 > 0:05:32This is you here with an arrow. The circles are the women and the squares are the men.
0:05:32 > 0:05:35We build up the family tree, so this is your father's side
0:05:35 > 0:05:38of the family and this is your mother's side of the family.
0:05:38 > 0:05:41So, if we look at your father's side of the family first,
0:05:41 > 0:05:46the ages they were at, the fact they had different types of cancer,
0:05:46 > 0:05:50this is not increasing your risk for cancer on this side.
0:05:50 > 0:05:55- Most cancer is not hereditary. - What's the proportion?
0:05:55 > 0:05:59Only about 5% to 10% of cancers are due to a genetic susceptibility,
0:05:59 > 0:06:02a mistake in a gene passed down through the family.
0:06:02 > 0:06:09If, somewhere up here, say your grandmother had a mistake or mutation in one of those genes,
0:06:09 > 0:06:14it would mean that each of her children would have a 50/50 chance of having inherited that from her.
0:06:14 > 0:06:20And as they both had breast cancer, it is possible they might have inherited it -
0:06:20 > 0:06:24and then that would mean that each of their children would have a 50/50 chance.
0:06:24 > 0:06:30We don't know about your mother because we haven't been able to test her, but it's possible that
0:06:30 > 0:06:35your Aunt Judith might have a genetic susceptibility in one of those genes.
0:06:35 > 0:06:41If she does have, then we'd have to make an assumption that your mother also had it,
0:06:41 > 0:06:46and then you and your sister would both have a 50/50 chance of having inherited that as well.
0:06:46 > 0:06:50The best person to start by finding out about it
0:06:50 > 0:06:54would be your Aunt Judith, because she's had breast cancer.
0:06:54 > 0:06:57The NHS will take it one stage at a time.
0:06:57 > 0:07:04They're testing Judith, as she's already had cancer, and they hope to find our family's faulty gene
0:07:04 > 0:07:10in her DNA, which would then make it easier to search for it in me.
0:07:10 > 0:07:14So all I can do is be patient...
0:07:14 > 0:07:17or give in to temptation.
0:07:17 > 0:07:23The internet is awash with companies that may not look in as much detail at my family's cancer genes,
0:07:23 > 0:07:28but they'll search much wider - for many more diseases.
0:07:28 > 0:07:31"23andMe was founded to empower individuals
0:07:31 > 0:07:34"and develop new ways of accelerating research.
0:07:34 > 0:07:40"We believe that having the means to access one's genetic information is good.
0:07:40 > 0:07:46"We believe that your genetic information should be controlled by you.
0:07:46 > 0:07:48"With a simple saliva sample,
0:07:48 > 0:07:51"we'll help you gain insight into your traits."
0:07:51 > 0:07:56It is amazing that I can send off a piece of spit
0:07:56 > 0:08:00to America, and they can come back telling me what my genes are.
0:08:00 > 0:08:05"Let your DNA help you plan for the most important things in life.
0:08:05 > 0:08:09"Take charge of health and wellness today. All for 499."
0:08:13 > 0:08:15So I pay my money and take my chance.
0:08:20 > 0:08:25It's amazing they can get my DNA out of my cheek spit. I think I'm done.
0:08:25 > 0:08:28Here is my very own DIY sample.
0:08:30 > 0:08:34When you tap that consent form, it did say something like,
0:08:34 > 0:08:39"You may learn information that you're unprepared for."
0:08:39 > 0:08:41A bit scary.
0:08:41 > 0:08:43A little nervous, I suppose.
0:08:43 > 0:08:48But I still think that all information is good, probably.
0:08:48 > 0:08:51So it's good to find out what's going on inside of me.
0:09:00 > 0:09:06As I go further, I discover there are some conditions you might not want to find out about.
0:09:08 > 0:09:11Huntington's disease begins with a single fault
0:09:11 > 0:09:13on a gene on the fourth chromosome
0:09:13 > 0:09:18which causes the slow mental and physical destruction of the person.
0:09:18 > 0:09:23Susan's been bedbound for a decade, and is now completely paralysed.
0:09:23 > 0:09:28Her daughter Alex has a 50/50 chance of inheriting the disease.
0:09:28 > 0:09:36I'm visiting their home, but I can't film Susan because she can't communicate her consent.
0:09:36 > 0:09:39She can't walk, she can't talk, she can't eat,
0:09:39 > 0:09:45because the Huntington's has developed so far now
0:09:45 > 0:09:47that's it's affected the swallowing.
0:09:50 > 0:09:53Not being able to do anything
0:09:53 > 0:09:56must just be horrific, and a living nightmare.
0:09:56 > 0:10:01It didn't affect me when I was younger, but the older I'm getting and obviously seeing her now,
0:10:01 > 0:10:05I just think, shit, that could be me in 20 years.
0:10:05 > 0:10:07It could be me in five years, ten years, I don't know.
0:10:07 > 0:10:09I have no idea.
0:10:09 > 0:10:12It may never be me, I might not even have the gene.
0:10:12 > 0:10:15It's that double-edged sword of...
0:10:17 > 0:10:20..finding out if...
0:10:20 > 0:10:26I'm going to end up like my mum, and if I've...
0:10:29 > 0:10:31SHE SNIFFS
0:10:38 > 0:10:40SIGHS
0:10:40 > 0:10:43..if I've got the gene,
0:10:43 > 0:10:47then what does the future hold for me and my daughter?
0:10:49 > 0:10:54Because if I've got it, then she's got a 50/50 chance of getting it.
0:10:57 > 0:10:58And it kills me.
0:11:04 > 0:11:07Hello, how are you?
0:11:10 > 0:11:12You had a nice sleep?
0:11:14 > 0:11:17That's my favourite one - my nan's first wedding.
0:11:17 > 0:11:21I think she was 19, 20.
0:11:21 > 0:11:23She's just so beautiful. She still is.
0:11:23 > 0:11:29Sad. It's just weird because I just can't imagine her like that.
0:11:29 > 0:11:34It's like a little Pac-Man that eats your brain, so different functions stop working.
0:11:34 > 0:11:36I'm scared of the disease.
0:11:36 > 0:11:38Not me getting it, but my mum getting it
0:11:38 > 0:11:41and having to lose my mum to a horrible disease.
0:11:41 > 0:11:45But at least I've known my mum - that's one good thing.
0:11:49 > 0:11:52The thing about Huntington's is that if you've got the gene
0:11:52 > 0:11:55you'll inevitably get the disease.
0:11:55 > 0:11:57So what's the point of a test?
0:12:00 > 0:12:03That's why I said it's a double-edged sword,
0:12:03 > 0:12:09because I want to know if I haven't got it, but I don't want to know that I have got it.
0:12:09 > 0:12:11That's the dilemma that I'm in.
0:12:12 > 0:12:15And it just eats away at me every day.
0:12:15 > 0:12:17What should I do?
0:12:17 > 0:12:21I should do it because I owe it to Lucy.
0:12:22 > 0:12:26I think if I've got it, then what kind of life will she have,
0:12:26 > 0:12:29having to look after me like I've had to look after my mum?
0:12:29 > 0:12:33I don't want her to look after me, I don't want her to go through
0:12:33 > 0:12:34what I went through, it's not fun.
0:12:34 > 0:12:36It's a huge, like...
0:12:36 > 0:12:41God, I'd just love someone to just lift it off my shoulders and go,
0:12:41 > 0:12:46"It's OK, you haven't got the gene, it's fine." Pat you on the head, bye!
0:12:50 > 0:12:52Alex decides not to take the test.
0:12:52 > 0:12:59Her daughter Lucy will face the same dilemma in a few years, when she turns 18.
0:13:01 > 0:13:06When I began, I thought it's great, everybody finding everything out,
0:13:06 > 0:13:11that would be a perfect world, we could all plan our futures.
0:13:11 > 0:13:13I guess seeing them,
0:13:13 > 0:13:16I think, it's a kind of Pandora's box,
0:13:16 > 0:13:20sometimes it's better to know, sometimes it's better not to know.
0:13:25 > 0:13:28But for many diseases, a genetic test is far from pointless.
0:13:28 > 0:13:33With breast cancer, which has so ravaged my family,
0:13:33 > 0:13:36a test may be the first step towards prevention.
0:13:36 > 0:13:39I'm on my way to Kent to see Julie,
0:13:39 > 0:13:44who's recently been told she carries a breast cancer gene.
0:13:44 > 0:13:47My mum, we knew when she moved downstairs
0:13:47 > 0:13:50into the lounge there was something wrong - she couldn't get out of bed.
0:13:50 > 0:13:54My dad, when she first went into hospital, my dad coming back
0:13:54 > 0:13:58and talking to my nan and granddad, but standing at the window
0:13:58 > 0:14:05of my nan's place and saying, when they opened her, they described it as a garden full of weeds.
0:14:05 > 0:14:08There was no longer any flowers growing.
0:14:08 > 0:14:13I have her on this pedestal, that she was the most perfect person in the world.
0:14:13 > 0:14:15All I've got is happy memories.
0:14:15 > 0:14:23The only sad memory I've got is her laying in bed asleep on the day she actually died.
0:14:23 > 0:14:26Just sleeping, and us laying next to her. Sorry.
0:14:30 > 0:14:36You'd think after 33 years you could get over something like this, but you just don't.
0:14:36 > 0:14:42The death of her mother when Julie was a child
0:14:42 > 0:14:45was only the first time the disease was to strike her family.
0:14:45 > 0:14:49My sister, when she got diagnosed...
0:14:49 > 0:14:55it was just like someone had put a knife through my heart, I really could not believe it.
0:14:55 > 0:14:59And I think that's when we started to think and wonder,
0:14:59 > 0:15:01"Maybe something's not...right,
0:15:01 > 0:15:03"maybe something's not quite right."
0:15:05 > 0:15:10Julie's fears have been confirmed by her genetic counsellors.
0:15:10 > 0:15:13She has an 80% chance of developing the disease.
0:15:15 > 0:15:18The test result came back.
0:15:18 > 0:15:21I left it on the table for about an hour, I think.
0:15:21 > 0:15:23Opened it, was absolutely gobsmacked.
0:15:23 > 0:15:27Could just not believe I had it. Just could not believe it.
0:15:30 > 0:15:33I got really angry.
0:15:34 > 0:15:36Then I started crying.
0:15:39 > 0:15:41What is the decision that you've made?
0:15:41 > 0:15:45Erm, to have a double mastectomy, which is...
0:15:45 > 0:15:50I'm doing it where they are removing all my tissue inside my breasts.
0:15:50 > 0:15:53I am keeping all my own skin and my own nipples
0:15:53 > 0:15:57and then they will put an implant into that.
0:15:57 > 0:16:00But it is the mutilation of your body.
0:16:00 > 0:16:02Yeah, but it...
0:16:02 > 0:16:05If it's keeping me alive, then...
0:16:05 > 0:16:07That's how I look at it.
0:16:07 > 0:16:14The worst thing about it is, the only part of my body I really like are my bust.
0:16:14 > 0:16:18Because as you get older, everything goes in different directions -
0:16:18 > 0:16:21you get cellulite and varicose veins and everything
0:16:21 > 0:16:24but my boobs have always stayed in the same place.
0:16:24 > 0:16:27It's the only part of my body that I think,
0:16:27 > 0:16:30"Yeah, they don't look too bad for a woman my age."
0:16:30 > 0:16:34So that side of it, you know, to start with, I'm thinking,
0:16:34 > 0:16:38"Why my bust? Why couldn't it have been my bum cheeks or something?
0:16:38 > 0:16:43"Why did it have to be my bust?" But now, I know I'll be fine.
0:16:43 > 0:16:45It will just take me a while to get used to them again.
0:16:55 > 0:17:00Inherited breast cancer arises from flaws on the BRCA genes
0:17:00 > 0:17:04on chromosome 13 and 17.
0:17:04 > 0:17:07These are the flaws that my family may have,
0:17:07 > 0:17:12and which are more common among people who share our Jewish heritage.
0:17:16 > 0:17:19And although I'm a man, I can still get breast cancer,
0:17:19 > 0:17:24and these genes increase the risk of cancer of the prostate.
0:17:24 > 0:17:27My aunt's test results have arrived.
0:17:29 > 0:17:32Don't really want to see it. Let's see what we've got.
0:17:33 > 0:17:35"No faults have been detected
0:17:35 > 0:17:39"in the BRCA1 or 2 genes in your sample.
0:17:39 > 0:17:42"The result reduces the possibility that you develop cancer
0:17:42 > 0:17:44"because of an inherited genetic fault."
0:17:44 > 0:17:49- How do you feel about this? - Yes, I think I'm pleased.
0:17:49 > 0:17:50I'm ambivalent.
0:17:50 > 0:17:55It seems almost that you think that there's definitely a gene there
0:17:55 > 0:17:59and not finding it just leaves open the possibility it's somewhere else.
0:17:59 > 0:18:01I still think...
0:18:01 > 0:18:03that it just means they haven't found it yet.
0:18:03 > 0:18:06I think it's really good news, in a way.
0:18:06 > 0:18:08It's really good news, cos I think...
0:18:08 > 0:18:10It will have more of an impact on you, in a way.
0:18:10 > 0:18:14Because I've already had at least one cancer,
0:18:14 > 0:18:19and therefore my risk was probably lower of having another one.
0:18:19 > 0:18:24Whereas you're in the situation of looking to the future. Good. Yes.
0:18:35 > 0:18:39So from your point of view, what do you understand that that now means for you?
0:18:39 > 0:18:43I think that reduces the likelihood that I've got those genes,
0:18:43 > 0:18:46that I've got the mutations.
0:18:46 > 0:18:50As your mother and grandmother had breast cancer young,
0:18:50 > 0:18:52and there's all those other breast cancers,
0:18:52 > 0:18:55Judith might have had it as a sporadic breast cancer.
0:18:55 > 0:19:00We can test you to see if you have one of the Ashkenazi Jewish mutations,
0:19:00 > 0:19:03which might explain why your mother had breast cancer.
0:19:03 > 0:19:06So, it reduces the chance a bit for you,
0:19:06 > 0:19:10but it's still possible that there could be a different gene mutation
0:19:10 > 0:19:13or one that your mother had which you might have inherited.
0:19:13 > 0:19:17Is there a sense of how likely it is that I have one of those mutations?
0:19:17 > 0:19:20At the moment, the chances for you of having a gene mutation
0:19:20 > 0:19:22are higher than in the general population.
0:19:22 > 0:19:26If you mother had it, then you would have a 50/50 chance of having inherited it.
0:19:28 > 0:19:34OK, so if you want to go ahead, we can take the blood sample today.
0:19:38 > 0:19:42So even with Aunt Judith in the clear,
0:19:42 > 0:19:45my mother might still have had a bad gene,
0:19:45 > 0:19:47and so might I.
0:19:47 > 0:19:51This needle will give insights into my family's tragic history.
0:19:56 > 0:20:00And it could offer the promise of a healthier future.
0:20:04 > 0:20:07It'll be two weeks until the result arrives.
0:20:13 > 0:20:17Julie's also in hospital, preparing for her breast removal.
0:20:19 > 0:20:23Obviously, from the mastectomy point of view,
0:20:23 > 0:20:26have you thought about preserving the nipple?
0:20:26 > 0:20:28I'd like to keep...
0:20:28 > 0:20:33I'd just like the insides taken out and the skin and the nipple left.
0:20:33 > 0:20:39The risk reduction from the mastectomy in general amount to 90%.
0:20:39 > 0:20:43There is some indication that, if the nipple is left behind,
0:20:43 > 0:20:47this may compromise this risk by about 1%.
0:20:47 > 0:20:52In other words, instead of 90% risk reduction, it will be 89%.
0:20:52 > 0:20:56- I think can live with that. - You can live with that? - Yeah, I can live with that.
0:21:01 > 0:21:03It changes everything.
0:21:03 > 0:21:05It changes the way you think.
0:21:05 > 0:21:08- Do you regret having the test?- Yeah.
0:21:08 > 0:21:11Yeah. Cos I never wanted it done.
0:21:11 > 0:21:15If it came back that you had it, how would you feel?
0:21:15 > 0:21:16I don't know, really.
0:21:16 > 0:21:20Until today I thought, "Oh, everybody's dying of cancer.
0:21:20 > 0:21:22"I'm bound to get it in the long run."
0:21:22 > 0:21:24Knowing might be a good thing,
0:21:24 > 0:21:27but seeing you go through today, I'm not... You know.
0:21:27 > 0:21:30I don't think anybody can answer it until it happens.
0:21:30 > 0:21:34I was so positively sure that I didn't have it
0:21:34 > 0:21:36that it really knocked me for six.
0:21:36 > 0:21:38What I want them to say
0:21:38 > 0:21:40is that I haven't got it and everything's fine.
0:21:40 > 0:21:43Yeah, but it's not going to happen like that.
0:21:43 > 0:21:46Sometimes I think it's best not knowing.
0:21:46 > 0:21:48That's how I feel, it's best not to know.
0:21:52 > 0:21:55But there's another reason why I do want to know.
0:21:55 > 0:21:58What about any children I may have?
0:21:58 > 0:22:02Could I prevent them from inheriting the cancer gene?
0:22:06 > 0:22:10Tracey and Thomas are asking the same question.
0:22:10 > 0:22:13They don't have the breast cancer gene, but something else.
0:22:13 > 0:22:16A piece of Thomas's chromosome one
0:22:16 > 0:22:20has swapped places with a part of chromosome six.
0:22:20 > 0:22:25It means Tracey's never been able to have a healthy baby.
0:22:25 > 0:22:31The whole reason we found out was due to miscarriages and the loss of our boys.
0:22:31 > 0:22:34When Tracey fell pregnant with the twins - overjoyed!
0:22:34 > 0:22:38More than we could ever hope for. Went into premature labour
0:22:38 > 0:22:40and they didn't survive.
0:22:40 > 0:22:43We then had some genetic testing done,
0:22:43 > 0:22:48where we were told that Thomas had the...
0:22:48 > 0:22:50translocation of genes.
0:22:50 > 0:22:53And when they were doing history checks,
0:22:53 > 0:22:56they found that, actually, my dad's got the same condition.
0:22:56 > 0:23:00We've been trying since we were married. So it's been four years.
0:23:01 > 0:23:06I'm glad there is hope out there, that we could have at least one child.
0:23:07 > 0:23:13Now they're embarking on one of the most remarkable benefits of the genetic revolution,
0:23:13 > 0:23:18a procedure called pre-implantation genetic diagnosis - PGD.
0:23:21 > 0:23:25So that's the needle there, in the follicle.
0:23:25 > 0:23:29If you watch, when I put the suction onto the needle,
0:23:29 > 0:23:33the fluid in that follicle will be sucked through the tubing,
0:23:33 > 0:23:36and that follicle will gradually collapse.
0:23:36 > 0:23:38And that tube is being passed to the embryologist.
0:23:38 > 0:23:41They'll empty the fluid into a dish, look down a microscope
0:23:41 > 0:23:45to look for the presence of an egg in the dish.
0:23:49 > 0:23:51It's basically IVF.
0:23:51 > 0:23:56In a test tube, they'll fertilise Tracey's eggs with Thomas's sperm,
0:23:56 > 0:23:59hoping to produce the maximum number of embryos.
0:23:59 > 0:24:03We're happy that it's finally on its way.
0:24:03 > 0:24:04We're getting there.
0:24:11 > 0:24:13Then comes the whizzo science.
0:24:13 > 0:24:16They make a hole in the shell of each eight-celled embryo
0:24:16 > 0:24:20and suck out a single cell.
0:24:20 > 0:24:22These are then genetically tested
0:24:22 > 0:24:26and if they find one that doesn't contain Thomas' chromosome fault,
0:24:26 > 0:24:30they'll transfer that embryo into Tracey.
0:24:31 > 0:24:33We're just rolling the dice now.
0:24:33 > 0:24:39Sometimes we can be lucky and the odds are in our favour.
0:24:39 > 0:24:43Of the three, any of them might come back with a normal result.
0:24:47 > 0:24:54With PGD, elemental flaws of nature are now fixable by human hands.
0:24:56 > 0:24:58I've come to Cambridge to meet Dan and Lizzie.
0:25:01 > 0:25:06When they met, they didn't know they each carried a flaw on the seventh chromosome.
0:25:06 > 0:25:11They only found out when the two flaws came together in Isaac.
0:25:11 > 0:25:14- Am I right, you've got cystic fibrosis?- Yeah.
0:25:14 > 0:25:16What does that mean?
0:25:17 > 0:25:19I have more coughs.
0:25:19 > 0:25:21- You've got more coughs?- Yeah.
0:25:21 > 0:25:22HE COUGHS WEAKLY
0:25:22 > 0:25:24No, come on, do a proper one.
0:25:24 > 0:25:25HE COUGHS LOUDLY
0:25:25 > 0:25:29Isaac is at risk of serious lung infections.
0:25:30 > 0:25:33He takes more than 30 pills a day,
0:25:33 > 0:25:36and has to have regular physiotherapy.
0:25:38 > 0:25:44His mucus is a lot thicker than a person without CF and...
0:25:44 > 0:25:46we are basically helping it all move around.
0:25:46 > 0:25:49So I can eat more cakes.
0:25:49 > 0:25:51That's what patticakes is for?
0:25:51 > 0:25:53Yeah, so I love patticakes.
0:25:53 > 0:25:55Cos I get more cakes.
0:25:57 > 0:26:00How will CF affect the rest of his life?
0:26:00 > 0:26:04It's degenerative, so he'll get worse as he gets older.
0:26:06 > 0:26:10He has a heightened chance of lots of other things,
0:26:10 > 0:26:15such as CF-related diabetes, liver disease, osteoporosis.
0:26:15 > 0:26:19They talk about median life expectancy at the moment being 37.
0:26:21 > 0:26:25Every couple has an idea in their head of how many children they'd like.
0:26:25 > 0:26:28We always thought we'd have three or four.
0:26:28 > 0:26:35So suddenly to have one and know that we were carriers of this genetic disease.
0:26:35 > 0:26:39What is the chance of you giving birth to another CF child?
0:26:39 > 0:26:41One in four.
0:26:41 > 0:26:45Isaac has a good life, but it's also quite a complicated life.
0:26:45 > 0:26:47I'd rather...
0:26:47 > 0:26:51rather not put another child...
0:26:51 > 0:26:54If I had an opportunity not to have a child with CF,
0:26:54 > 0:26:57I think we took it with both hands
0:26:57 > 0:27:01because it's not the nicest disease to have, really.
0:27:03 > 0:27:06So Lizzie and Dan opted for PGD.
0:27:09 > 0:27:10On their first attempt,
0:27:10 > 0:27:17one of their embryos was identified as not having the cystic fibrosis flaw,
0:27:17 > 0:27:22and it grew up to be the small and perfectly-formed Anouk.
0:27:25 > 0:27:29The decision was undoubtedly the right one for our family
0:27:29 > 0:27:33and I have no doubts about it at all.
0:27:33 > 0:27:36Now we have this wonderful, healthy daughter
0:27:36 > 0:27:40sibling for Isaac, and she is amazing.
0:27:40 > 0:27:43I look at her and think, "She's a miracle of science."
0:27:43 > 0:27:45- Some scrambles?- Yes.
0:27:45 > 0:27:47How's the scrambled egg, Anouk?
0:27:47 > 0:27:49She doesn't really talk, you know!
0:27:49 > 0:27:51LIZZIE LAUGHS
0:27:56 > 0:28:00It's wonderful that diseases like cystic fibrosis
0:28:00 > 0:28:04can be prevented from passing down the generations.
0:28:04 > 0:28:07But PGD is expensive -
0:28:07 > 0:28:12it costs the NHS £8,000 a cycle, and most cycles fail.
0:28:12 > 0:28:18It's time for Tracey to discover whether the hospital has found a good embryo.
0:28:18 > 0:28:23I was shocked when they phoned me and said there were only six out of the 20 that fertilised.
0:28:23 > 0:28:26I was a bit shocked by that,
0:28:26 > 0:28:29and then to get the call this morning saying that only three were viable
0:28:29 > 0:28:33for the biopsy, I was like, "OK, not what I was expecting."
0:28:35 > 0:28:37So I'm certainly nervous.
0:28:37 > 0:28:39It's the worst thing ever.
0:28:39 > 0:28:41Sitting here, constantly watching it.
0:28:41 > 0:28:44It's when you don't look, that's when it rings.
0:28:44 > 0:28:47MOBILE RINGS That could be them. Hello?
0:28:49 > 0:28:52'..come back with normal results, so well done.'
0:28:52 > 0:28:53Brilliant.
0:28:53 > 0:28:55'A sigh of relief.'
0:28:56 > 0:28:58It certainly is!
0:28:58 > 0:28:59'Are you OK?'
0:29:00 > 0:29:04Yeah, just glad at least one's come back fine.
0:29:04 > 0:29:07Bizarre going from 20 eggs down to one.
0:29:07 > 0:29:12Certainly a big drop, but at least there was one
0:29:12 > 0:29:15that was absolutely fine, which is fantastic.
0:29:22 > 0:29:2324 hours later,
0:29:23 > 0:29:30the one good embryo is delicately placed inside Tracey's womb.
0:29:30 > 0:29:34Now they must wait again to see if she's pregnant.
0:29:34 > 0:29:37- Well done, that went very well. - Fingers crossed.
0:29:37 > 0:29:39See how we go.
0:29:40 > 0:29:43- Best of luck.- Thank you very much.
0:29:43 > 0:29:45Obviously we'll still be a bit concerned
0:29:45 > 0:29:49with what's happened in the past about premature labour,
0:29:49 > 0:29:52but I think we're going to be a bit more at ease,
0:29:52 > 0:29:56knowing that at least we know it is balanced or normal.
0:30:03 > 0:30:08Is pre-implantation genetic diagnosis a panacea for us all?
0:30:10 > 0:30:14If I had a cancer gene, would it be right for me?
0:30:14 > 0:30:18One of the world's leading cancer experts isn't so sure.
0:30:21 > 0:30:26There's a phenomena in genetics and cellular development
0:30:26 > 0:30:28called co-expression of genes.
0:30:28 > 0:30:32Two genes can be stuck together.
0:30:32 > 0:30:36That means if I've one gene, I might also come with another gene?
0:30:36 > 0:30:38It is likely,
0:30:38 > 0:30:43if you've got the mutant gene, that may also be co-expressed
0:30:43 > 0:30:48with other, favourable components of the human genome.
0:30:48 > 0:30:51In breeding out the BRCA1, BRCA2 mutation,
0:30:51 > 0:30:55you may inadvertently be breeding out something of value.
0:30:55 > 0:31:03Because just say that the gene or the complex of genes for beauty,
0:31:03 > 0:31:08or, say, a complex of genes for high intelligence,
0:31:08 > 0:31:14so there is a risk that if we select out all the embryos
0:31:14 > 0:31:21that carry these mutations, we may be selecting out some of the best people in society.
0:31:21 > 0:31:23Now, you think that is facetious.
0:31:23 > 0:31:28I don't know. It may not be beauty and intelligence, but it may be something else
0:31:28 > 0:31:33that has an evolutionary advantage that compensates for the evolutionary disadvantage.
0:31:42 > 0:31:44Professor Baum leaves me confused.
0:31:45 > 0:31:49There was so much about my mother that I loved,
0:31:49 > 0:31:52and would be loath to lose in my children.
0:32:03 > 0:32:10But maybe it's my duty to prevent disease being passed down the generations.
0:32:10 > 0:32:15I'm going to Newcastle to meet Daniel and his partner Danielle.
0:32:15 > 0:32:18They're true pioneers, one of only a handful of couples
0:32:18 > 0:32:24now using PGD on the NHS to breed out the breast cancer gene.
0:32:26 > 0:32:29A gene which killed Daniel's sister at 28.
0:32:31 > 0:32:35It's quite hard to watch somebody go through all that.
0:32:35 > 0:32:40Optimistic one minute, and then the next to receive another diagnosis
0:32:40 > 0:32:43that would mean some more therapies.
0:32:43 > 0:32:47I guess I'm slightly uncomfortable about messing with nature.
0:32:47 > 0:32:53I think we'd feel a lot less comfortable with the idea if we were being more selective.
0:32:53 > 0:32:58- If we were saying we wanted a boy or a girl or...- Yeah. Absolutely
0:32:58 > 0:33:01Cos the other option we were given was to conceive naturally
0:33:01 > 0:33:05and then to have a gender test and have a termination if it's a girl.
0:33:05 > 0:33:06I just couldn't do that.
0:33:06 > 0:33:11It does make me think about, would I...
0:33:11 > 0:33:14want to prevent a child of mine going through what my mum did?
0:33:14 > 0:33:19If science has given me that power to do something about that,
0:33:19 > 0:33:21then really I should use that power.
0:33:21 > 0:33:25That's something that... the human race has created.
0:33:25 > 0:33:29It's part of the history of our progress.
0:33:29 > 0:33:32For me, that's an opportunity, really.
0:33:32 > 0:33:33It could happen naturally.
0:33:33 > 0:33:37The child we end up with, we could have conceived naturally.
0:33:37 > 0:33:40It's just the risk factor.
0:33:40 > 0:33:43Getting back to your family history, Adam,
0:33:43 > 0:33:45about your mother developing cancer
0:33:45 > 0:33:49when she was much older than, say, my sister,
0:33:49 > 0:33:53but there's no guarantees that, if it was a genetic cancer,
0:33:53 > 0:33:56that it would be as late-onset as that.
0:33:56 > 0:34:01It's that sort of level of...unknown...
0:34:01 > 0:34:05It's that unknown element, which...
0:34:05 > 0:34:09if I can at all take control of something, I would do so.
0:34:09 > 0:34:11I suppose that's what I'm doing here.
0:34:17 > 0:34:22Daniel and Danielle will go through PGD later in the year at Guy's.
0:34:25 > 0:34:28Meanwhile, it's time for Tracey and Thomas
0:34:28 > 0:34:32to discover if their embryo has survived.
0:34:36 > 0:34:38Today is the day we do the pregnancy test
0:34:38 > 0:34:41to find out if it's worked or not.
0:34:41 > 0:34:44Very excited, but also very nervous.
0:34:44 > 0:34:47- Fingers crossed that it's positive. - Yeah.
0:34:49 > 0:34:51It feels really bizarre,
0:34:51 > 0:34:54- knowing that this is make or break now.- Yeah.
0:35:02 > 0:35:05Nervous.
0:35:05 > 0:35:06Really nervous.
0:35:15 > 0:35:16I haven't even looked.
0:35:16 > 0:35:18We have to wait three minutes.
0:35:20 > 0:35:24- This is the worse three minutes ever. - Yeah. Could be the longest as well.
0:35:25 > 0:35:26You OK?
0:35:28 > 0:35:30- Do you want me to do it?- You do it.
0:35:30 > 0:35:35Right. If it's positive, there'll be two blue lines.
0:35:35 > 0:35:38So this determines hopefully the rest of our lives.
0:35:38 > 0:35:41Do you want to do it?
0:35:41 > 0:35:44Two blue lines. Pregnant! Fantastic!
0:35:44 > 0:35:47Can't believe it's worked. First time. I'm shaking.
0:35:47 > 0:35:53Brilliant. Confirmed, positive result, two blue lines.
0:35:53 > 0:35:54Oh, well done!
0:35:56 > 0:36:01That's fantastic. Better start planning.
0:36:01 > 0:36:03- I can't believe it. - That's our first time round.
0:36:03 > 0:36:05PHONE RINGS
0:36:05 > 0:36:07Hi, Mum, it's only me.
0:36:07 > 0:36:09Did the test.
0:36:09 > 0:36:11Yeah, it's positive.
0:36:16 > 0:36:22The NHS provides PGD for hundreds of couples each year.
0:36:22 > 0:36:27But there are millions of people in Britain at risk of inherited diseases.
0:36:27 > 0:36:31I want to know if this brave new world of genetics is reaching them all.
0:36:32 > 0:36:37One of the commonest conditions is called familial hypercholestrolemia.
0:36:37 > 0:36:38Or FH.
0:36:38 > 0:36:43Norman's a shopkeeper who's had high cholesterol all his life
0:36:43 > 0:36:47and takes a statin drug to control it.
0:36:47 > 0:36:52He never imagined it would be a disease that could be passed down the generations.
0:36:52 > 0:36:55I thought this was something I had and that was it.
0:36:55 > 0:36:58I always put it down to the fact that my mother gave me milk.
0:36:58 > 0:37:02Every day, I had to drink milk and if it wasn't milk, it was Nestle chocolate.
0:37:02 > 0:37:03Absolutely nothing.
0:37:03 > 0:37:08I know my father has suffered from high cholesterol for many years.
0:37:08 > 0:37:12But, you know, you just... "OK, it's high cholesterol."
0:37:12 > 0:37:14It's like having asthma.
0:37:14 > 0:37:17It's like any other... I didn't think much of it.
0:37:17 > 0:37:21I didn't connect the dots to heart attacks or anything.
0:37:21 > 0:37:22I never connected it.
0:37:25 > 0:37:26Norman's lucky.
0:37:26 > 0:37:30He's one of the few people in England who's been tested for FH.
0:37:33 > 0:37:37Your liver is not effective in removing the LDL cholesterol.
0:37:37 > 0:37:41- I understand.- That's why your cholesterol becomes high.
0:37:41 > 0:37:44This is determined by a gene defect.
0:37:44 > 0:37:49And that is what they have found - the gene defect responsible for this.
0:37:49 > 0:37:55This is not going to help you but it will help your family.
0:37:55 > 0:37:58You have two daughters who have not been screened.
0:37:58 > 0:38:00And you have grandchildren?
0:38:00 > 0:38:01I have.
0:38:01 > 0:38:06OK. Then we need to screen the grandchildren after we've screened your children.
0:38:06 > 0:38:09Norman's family will now be tested.
0:38:09 > 0:38:10The sooner FH is detected,
0:38:10 > 0:38:14the sooner the life-saving statin drugs can be started.
0:38:18 > 0:38:23But this testing service isn't paid for by the NHS,
0:38:23 > 0:38:29it's part of a research study by Professor Steve Humphries of University College London.
0:38:32 > 0:38:38Untreated, about half the men with FH will have a heart attack by the age of 55 years.
0:38:38 > 0:38:44For example if I have FH I must have inherited it from my mum or my dad.
0:38:44 > 0:38:48Half of my brothers or sisters on average will have it as well. And of half my children.
0:38:48 > 0:38:50So once you've found me -
0:38:50 > 0:38:53because I've developed early heart disease -
0:38:53 > 0:38:56then, on average I've got five living relatives,
0:38:56 > 0:38:59if you test them you'll find two or three with FH.
0:38:59 > 0:39:04We call it cascade testing - testing the relatives of those who have FH.
0:39:04 > 0:39:08It's a very cost-effective way of finding new FH patients.
0:39:08 > 0:39:11How much cascade testing is happening in England?
0:39:11 > 0:39:13Well, that's the part that really upsets me.
0:39:13 > 0:39:19Cascade and DNA testing are not occurring almost anywhere in England.
0:39:19 > 0:39:25However, it is occurring very much in Wales, Scotland and in Northern Ireland.
0:39:25 > 0:39:29In the UK there are about 100,000 FH patients
0:39:29 > 0:39:31who have not been diagnosed yet.
0:39:31 > 0:39:32Half of them are men,
0:39:32 > 0:39:36half of them are going to have a heart attack by the age of 55 unless we can find them.
0:39:36 > 0:39:41It makes no sense. It's almost a scandal we're not doing it, not taking this forward.
0:39:41 > 0:39:45Why is the NHS not getting its act together?
0:39:45 > 0:39:47They just don't see it as a big problem.
0:39:47 > 0:39:50Everybody agrees that doing this is cost effective.
0:39:50 > 0:39:54But when we go to a primary care trust or a GP and say,
0:39:54 > 0:39:57"Look, it would be good for you to commission this, it's cost-effective."
0:39:57 > 0:40:00They say, "Will it save me money in the next 12 months?"
0:40:00 > 0:40:04Because those are the budgetary constraints they have. We say "No.
0:40:04 > 0:40:07"It'll cost you money now, but it'll save you money
0:40:07 > 0:40:11"in year two and three because people won't be having heart attacks."
0:40:13 > 0:40:17I think the NHS - and I don't mean it in a derogatory way,
0:40:17 > 0:40:20because it's a great institution.
0:40:20 > 0:40:24I've lived in a few countries and I've never found an institution like this -
0:40:24 > 0:40:28but there are times they let the people down.
0:40:28 > 0:40:30This is one of them.
0:40:35 > 0:40:39It is shocking to learn there are 100,000 people
0:40:39 > 0:40:43with a fatal disease that should easily be detected.
0:40:45 > 0:40:52And I've learnt that it would cost less than £10 million a year to find and treat these people.
0:40:56 > 0:41:03For other diseases, there is also a slowness to embrace the brave new world of genetics.
0:41:03 > 0:41:09Sickle-cell anaemia is another of Britain's most prevalent genetic diseases,
0:41:09 > 0:41:12with a quarter of a million people being carriers.
0:41:15 > 0:41:19Starting in childhood, crises attack every few months.
0:41:19 > 0:41:25In London, it's now one of the commonest reasons for admission to hospital.
0:41:35 > 0:41:40Simeon has just arrived in hospital in South London.
0:41:40 > 0:41:43His mother Helen is at his side.
0:41:44 > 0:41:47He'd gone skating with his friends,
0:41:47 > 0:41:49but as he got off the bus and walked down the road,
0:41:49 > 0:41:54he just felt his legs going and he had this pain in his stomach and hips
0:41:54 > 0:41:56and then he found himself literally on the floor.
0:41:56 > 0:42:01And it was only because his friends had seen him and they picked him up and called the ambulance.
0:42:01 > 0:42:06When we got here they'd given him a small shot of morphine, so that helped stabilise the pain.
0:42:06 > 0:42:13- How often does it happen? - It happened probably about every four, five months.
0:42:13 > 0:42:15I'm hoping he'll learn to live with it,
0:42:15 > 0:42:19because this is the only thing to do, there isn't a cure for sickle-cell.
0:42:19 > 0:42:25All this could be prevented if I had learnt about my sickle-cell genes and how they pass on,
0:42:25 > 0:42:29but I don't think in our times we were given that choice of a sickle-free life.
0:42:29 > 0:42:31I don't think we were given that choice.
0:42:33 > 0:42:38Helen has spent much her life in and out of accident and emergency,
0:42:38 > 0:42:45because she, Simeon, and her daughter Mischa all have the disease.
0:42:45 > 0:42:47Sickle-cell is a red-blood disorder.
0:42:47 > 0:42:51And instead of cells being a circular shape, they're a sickle shape.
0:42:51 > 0:42:54And sickle is like a half-moon shape.
0:42:54 > 0:42:57So usually the red blood cells - or even your white blood cells -
0:42:57 > 0:43:02they flow down the arteries and your veins quite easily
0:43:02 > 0:43:08but when they're half-moon shape, they can get stuck going down or can clump together.
0:43:08 > 0:43:10And it becomes difficult.
0:43:10 > 0:43:13It feels crazy.
0:43:13 > 0:43:15Crazy, crazy, crazy.
0:43:15 > 0:43:19It just feels like sharp pains...
0:43:19 > 0:43:24mixed with somebody constantly stabbing you, having no mercy.
0:43:25 > 0:43:27Then you've got to get the morphine.
0:43:27 > 0:43:30To me that's like, "Ahhhh..."
0:43:30 > 0:43:32Because it's so great.
0:43:32 > 0:43:34Wipes out all pain, doesn't it?
0:43:34 > 0:43:36Wipes out all pain, if you get a good dosage of it.
0:43:36 > 0:43:40It feels like the worst thing, like, "Oh, my days, why didn't I...
0:43:40 > 0:43:45"think about how this would affect her before I was having children?"
0:43:45 > 0:43:48It's really awful to see your own child in pain like that.
0:43:48 > 0:43:52Sickle-cell is passed on when both parents are carriers.
0:43:52 > 0:43:54The NHS offers a test in pregnancy -
0:43:54 > 0:44:00by which point, the only way to prevent a sickle-cell birth is abortion.
0:44:00 > 0:44:05And even then, the system only works if both parents have been tested at an early stage.
0:44:05 > 0:44:11So Helen's now chasing the 50% of fathers who aren't tested.
0:44:11 > 0:44:14We go and arrange screenings for the sickle-cell DVD.
0:44:14 > 0:44:16It's called The Family Legacy.
0:44:16 > 0:44:20It's important to raise awareness, because sickle-cell's a silent disorder.
0:44:20 > 0:44:23Because it's a black disorder, it doesn't get a lot of publicity.
0:44:27 > 0:44:31Sickle-cell is really rare, right?
0:44:31 > 0:44:33One in every 2,000 births
0:44:33 > 0:44:36but one in every four West Africans is a carrier.
0:44:36 > 0:44:38If you are a carrier of the gene,
0:44:38 > 0:44:40we'd like the father to come in for a screening also.
0:44:40 > 0:44:43Can I have your attention, please?
0:44:43 > 0:44:46Because men are finding it hard to come in and get screened
0:44:46 > 0:44:48to see if they've got the sickle trait or not,
0:44:48 > 0:44:51a lot of the time when it does happen in real life,
0:44:51 > 0:44:56it's always blamed on the woman, and the woman can't have a full sickle-cell child on her own.
0:44:56 > 0:44:59She needs one trait from the father, one from the mother.
0:44:59 > 0:45:01- Are we unknowingly spreading sickle-cell?- Yeah.
0:45:01 > 0:45:04This is why we're doing the awareness programme.
0:45:04 > 0:45:07We're ignorant. We're ignorant of the fact.
0:45:07 > 0:45:08I'm a carrier myself.
0:45:10 > 0:45:13I found out in similar circumstances like in the movie.
0:45:13 > 0:45:17My partner was pregnant, and I found out then.
0:45:17 > 0:45:22My partner's a carrier as well, so the question was posed,
0:45:22 > 0:45:24what did we want to do?
0:45:24 > 0:45:27I didn't think that was the reason to abort a child or anything.
0:45:27 > 0:45:28I wouldn't do that.
0:45:30 > 0:45:32But surely there's another way?
0:45:32 > 0:45:35One which might prevent such difficult decisions
0:45:35 > 0:45:39being forced on parents in the excitement of pregnancy.
0:45:39 > 0:45:42Preconception is the way to go, really,
0:45:42 > 0:45:47because then it means people are aware of their genotype before they actually conceive.
0:45:47 > 0:45:50This will do that, this sort of session will do that.
0:45:50 > 0:45:53If you're encouraging people to go for testing,
0:45:53 > 0:45:56this actually could lead to preconception.
0:45:56 > 0:45:59I'm assuming some of these young men are going to go on and conceive.
0:46:01 > 0:46:04People go to the doctor's every six months to get a check-up
0:46:04 > 0:46:09to make sure we don't have any AIDS, chlamydia, hepatitis, et cetera.
0:46:09 > 0:46:14Why can't they just take another test for sickle-cell as well?
0:46:14 > 0:46:16Kill two birds with one stone.
0:46:20 > 0:46:26Shouldn't the NHS offer to test everyone long before they conceive
0:46:26 > 0:46:28so they can have many more choices?
0:46:30 > 0:46:36They could then opt for PGD, or choose sickle-free partners
0:46:36 > 0:46:38as well as abortion.
0:46:40 > 0:46:45In Nottingham, GP Nadeem Qureshi is already ahead of the game...
0:46:46 > 0:46:51..in offering preconception testing to all his patients.
0:46:54 > 0:46:58Like in this practice, as soon as a patient registers,
0:46:58 > 0:47:01they're offered the sickle-cell and thalassaemia screening test.
0:47:01 > 0:47:05What's the shortcoming of how the NHS deals with it at the moment?
0:47:06 > 0:47:08It's not thought about at all.
0:47:08 > 0:47:13We're at the point where we're developing the technology.
0:47:13 > 0:47:17It's a bit like you've got yourself a customised car,
0:47:17 > 0:47:20a car that just goes for a Frankfurt Motor Show.
0:47:20 > 0:47:21No-one's thought,
0:47:21 > 0:47:24"How do you go from that to the car that's out on the street?"
0:47:24 > 0:47:27What should GPs be doing about sickle-cell?
0:47:27 > 0:47:32Sickle-cell, at the moment, there's a national screening programme for sickle-cell,
0:47:32 > 0:47:36which is at the antenatal stage.
0:47:36 > 0:47:39Talking to patients, they're asking,
0:47:39 > 0:47:43"Why can't this be offered pre-pregnancy?"
0:47:43 > 0:47:49The only setting where pre-pregnancy sickle-cell screening can take place,
0:47:49 > 0:47:51is in the primary care setting.
0:47:51 > 0:47:54In that way, they don't have to worry as soon as they get pregnant,
0:47:54 > 0:47:56"Oh, am I at risk?"
0:47:56 > 0:48:00They've already thought through the process - "Am I at risk of sickle-cell?
0:48:00 > 0:48:02"If I'm at risk, what options are open to me?"
0:48:13 > 0:48:19So should the NHS be offering much more screening for genetic conditions?
0:48:21 > 0:48:24Should we all be tested for everything?
0:48:25 > 0:48:29I've come to the NHS body who make these decisions,
0:48:29 > 0:48:31the National Screening Committee.
0:48:33 > 0:48:36Their director is Anne Mackie.
0:48:38 > 0:48:44To test for the genetic conditions on the individual thoughts of a GP
0:48:44 > 0:48:49means that they might be offering tests which are not accurate,
0:48:49 > 0:48:53are highly likely to give false positives,
0:48:53 > 0:48:59that a positive test doesn't necessarily mean you're going to get the disease.
0:48:59 > 0:49:01There are reasons why just saying,
0:49:01 > 0:49:05"I think I should offer these greater ranges of tests," isn't a good idea.
0:49:05 > 0:49:11If I'm a GP and somebody comes into my surgery asking for...
0:49:11 > 0:49:15advice about family planning
0:49:15 > 0:49:17and I'm in at risk group for sickle-cell,
0:49:17 > 0:49:24your advice would be that no discussion about hereditary disease happens?
0:49:24 > 0:49:27If people want to find that out, that's up to them.
0:49:27 > 0:49:31It's back to this business of, if you're the patient
0:49:31 > 0:49:34and you come along and say, "I want to know some of these things."
0:49:34 > 0:49:37If you're going to find out about fertility
0:49:37 > 0:49:40and you don't know anything about sickle-cell,
0:49:40 > 0:49:43then it's not the GP's job to say,
0:49:43 > 0:49:46"Did you know there's a disease that you might be at risk of?
0:49:49 > 0:49:50"And we have a test for it."
0:49:50 > 0:49:54We haven't either recommended or rolled out a programme
0:49:54 > 0:50:00that says GPs should be offering information like that
0:50:00 > 0:50:02to everybody who comes in these circumstances, no.
0:50:02 > 0:50:06But we're actively looking at whether we do that and how feasible that is.
0:50:06 > 0:50:08The ethics are so different.
0:50:08 > 0:50:12If a person wants something for themselves,
0:50:12 > 0:50:16there's a conversation about whether that's helpful to them or not
0:50:16 > 0:50:18or whether they understand what it is.
0:50:18 > 0:50:21That's different from offering something they've never heard of
0:50:21 > 0:50:24and have never worried about before,
0:50:24 > 0:50:28because we know that we'll do some people harm. We'll give some people the wrong result.
0:50:33 > 0:50:37I hope that these considerations bear fruit soon
0:50:37 > 0:50:39because although we might not want the NHS
0:50:39 > 0:50:42to systematically test each of us for every risk,
0:50:42 > 0:50:45surely it's the role of doctors
0:50:45 > 0:50:48to warn us all of our genetic possibilities?
0:50:48 > 0:50:51And then we can make the decisions.
0:50:53 > 0:50:56That's what I did and my results are now in.
0:50:57 > 0:51:00Yesterday was the anniversary of my mother's death.
0:51:00 > 0:51:05She died a year ago, and today I'm going to find out
0:51:05 > 0:51:08about whether or not I have a cancer gene.
0:51:08 > 0:51:11Actually, I'm really worried about it.
0:51:11 > 0:51:15I don't know how I'll deal with it if they tell me I have this gene.
0:51:21 > 0:51:24I don't know if I really want to know the result,
0:51:24 > 0:51:26but it's in your folder, so I suppose I should...
0:51:26 > 0:51:28The result is good news.
0:51:28 > 0:51:30Right.
0:51:30 > 0:51:33We didn't want to find one of those gene mutations.
0:51:33 > 0:51:35"No mutations detected."
0:51:35 > 0:51:39- Not in those three mutations that we've looked at.- Right.
0:51:39 > 0:51:45Does it change my risk for developing cancer at some point?
0:51:45 > 0:51:48From what we've got here, yes, your risk of cancer,
0:51:48 > 0:51:52because of your family history, possibly is higher than other people
0:51:52 > 0:51:56because you've still got a family history that's unexplained.
0:51:56 > 0:51:59But we can't say from the testing we've done
0:51:59 > 0:52:02that it's higher than perhaps you thought it was to start with.
0:52:02 > 0:52:05It may be lower than perhaps you thought it was to start with.
0:52:05 > 0:52:08But it doesn't answer all the questions in your family.
0:52:08 > 0:52:10It's weird that...
0:52:12 > 0:52:16..when I set out on this, I wanted some certainty
0:52:16 > 0:52:21and it's weird that the good news that I haven't got this gene
0:52:21 > 0:52:25is almost more frustrating than the bad news.
0:52:25 > 0:52:28There's still a spectre out there.
0:52:28 > 0:52:32Modern science hasn't been able to identify it,
0:52:32 > 0:52:34and I just don't know what it is.
0:52:34 > 0:52:37Even if we had found a gene mutation in you,
0:52:37 > 0:52:40there still wouldn't have been certainty.
0:52:40 > 0:52:43You still wouldn't have known if you're going to get cancer,
0:52:43 > 0:52:46when you might get cancer or how it might happen.
0:52:46 > 0:52:50This testing can only answer some of the questions.
0:52:50 > 0:52:52It doesn't answer all of the questions.
0:52:55 > 0:53:00It's a relief not to have the bad gene, and I'm glad I was tested
0:53:00 > 0:53:04and availed myself of the choices in this new era of genetics.
0:53:04 > 0:53:07But for others, the benefits are even greater.
0:53:07 > 0:53:09Nine and a half weeks...
0:53:09 > 0:53:11Tracey is in the final weeks of pregnancy,
0:53:11 > 0:53:14further along than she's ever been before.
0:53:14 > 0:53:17I was very happy when I found out it was a boy.
0:53:17 > 0:53:21Everybody round the scan area knew!
0:53:21 > 0:53:25Deep down, I wanted a little girl, as every woman wants.
0:53:25 > 0:53:30They always want a little girl, but I'm happy that we've got a boy.
0:53:30 > 0:53:34It's going to be strange, especially bringing him home.
0:53:34 > 0:53:40Deep down, I still miss the boys.
0:53:40 > 0:53:44These are our little booties left over from we had the twins.
0:53:44 > 0:53:48We bought them, never going to be used.
0:53:48 > 0:53:50We didn't want to get rid of them, so we kept them.
0:53:50 > 0:53:54If it wasn't for PGD, we wouldn't be this far long now.
0:53:54 > 0:53:57Or even be pregnant at all.
0:53:57 > 0:53:59We'd probably looking at a life of either adopting or...
0:53:59 > 0:54:01..just not having children.
0:54:01 > 0:54:04Obviously after Carl's been born, we'll get him tested
0:54:04 > 0:54:06to find out if he does have it.
0:54:06 > 0:54:09Hopefully he doesn't. I'll be very happy if he doesn't have it.
0:54:09 > 0:54:13It'll be nice to make sure that stops with me.
0:54:13 > 0:54:15It's not going to continue, it's going to stop here.
0:54:18 > 0:54:20The new wave of genetic knowledge
0:54:20 > 0:54:23has transformed Tracey and Thomas's lives.
0:54:25 > 0:54:27There seems to be no limit to the information
0:54:27 > 0:54:30that could benefit us all.
0:54:31 > 0:54:35I've just had a message from California.
0:54:35 > 0:54:38The subject line of this e-mail is, "Your genetic profile is ready."
0:54:38 > 0:54:41Well, I'm going to click on my health results.
0:54:41 > 0:54:44There you go. Yes, I want to review my results.
0:54:44 > 0:54:47It confirms I haven't got a breast cancer gene.
0:54:47 > 0:54:51Familial hypercholesterolemia type B, haven't got.
0:54:52 > 0:54:57A whole collection of others that I've never heard of. Elevated risks.
0:54:58 > 0:54:59Atrial fibrillation.
0:54:59 > 0:55:01Adam Wishart...
0:55:01 > 0:55:05"47 out of 100 men of European ethnicity
0:55:05 > 0:55:10"who share Adam's genotype will develop atrial fibrillation
0:55:10 > 0:55:12"between the ages of 0 and 79.
0:55:12 > 0:55:14"Whereas in general,
0:55:14 > 0:55:18"only 27 out of 100 of men of European ethnicity will develop it.
0:55:18 > 0:55:23"Atrial fibrillation is characterised by chaotic electric signals in the heart
0:55:23 > 0:55:27"that can cause the upper chambers, the atria to quiver.
0:55:27 > 0:55:31"Whilst it's not life-threatening on its own, it can have deadly complications."
0:55:31 > 0:55:34I feel really uncomfortable that at some point in the future
0:55:34 > 0:55:36I might get arrhythmia of the heart or whatever it is.
0:55:36 > 0:55:42I asked for it, I chose to go down this line
0:55:42 > 0:55:46and the company provides me with the information that I asked for.
0:55:49 > 0:55:52I mean, I do think I was a bit foolish in asking for it...
0:55:54 > 0:55:58..since I've got no way of dealing with what it says.
0:55:58 > 0:56:02I'm going to try and speak to someone at Guy's about what this means.
0:56:05 > 0:56:11There's another genetic counsellor who knows all about these DIY tests.
0:56:11 > 0:56:13I got the results and apart from anything else,
0:56:13 > 0:56:19I'm a bit worried because it says that I've got roughly a 50/50 chance
0:56:19 > 0:56:22of having atrial fibrillation, whatever that is.
0:56:22 > 0:56:25Which seems to me to say that I'm going to die of a heart disease
0:56:25 > 0:56:27in the not-too-distant future.
0:56:27 > 0:56:30What's important is to put this into context.
0:56:30 > 0:56:36This gives the risk of a person with your genetic variation
0:56:36 > 0:56:40get atrial fibrillation between the ages of 75 and 79.
0:56:40 > 0:56:43What it's really saying is
0:56:43 > 0:56:49that most of the risk is after the age of 75.
0:56:49 > 0:56:53All of us are going to get some kind of disease as we get older.
0:56:53 > 0:56:55It's a fact of life.
0:56:56 > 0:56:59- So have you ever done this? - No, I never would.
0:56:59 > 0:57:03I only want to find out things about myself that are useful
0:57:03 > 0:57:05and I could do something about.
0:57:05 > 0:57:08I don't want to find things out that I'll just worry about.
0:57:08 > 0:57:10My question back to you is,
0:57:10 > 0:57:13what have you gained by finding out this information?
0:57:13 > 0:57:16Part of me naively hoped that it'll tell me something
0:57:16 > 0:57:18about how I was at maximum good health
0:57:18 > 0:57:21- and I wasn't going to get anything, ever.- Yes.
0:57:21 > 0:57:25Now that I've got a 50/50 chance of having atrial fibrillation...
0:57:27 > 0:57:30..I've just learnt worry, I think.
0:57:30 > 0:57:33You strike me as somebody who worries about their health anyway.
0:57:35 > 0:57:39In the course of making this programme, I've caught hypochondria.
0:57:41 > 0:57:46Of course, I am relieved that the secrets of my blood
0:57:46 > 0:57:48don't foretell a terrible destiny.
0:57:50 > 0:57:53Even if that means I still don't know
0:57:53 > 0:57:57whether there was a genetic element in my mother's breast cancer.
0:58:00 > 0:58:02One thing I've learnt is that
0:58:02 > 0:58:08whilst the NHS is brilliant at delivering this immense new power to heal,
0:58:08 > 0:58:11it's better at serving the lucky few.
0:58:13 > 0:58:17But there are the many who are at risk from serious diseases
0:58:17 > 0:58:22that are easily detectable and managed, if only they knew.
0:58:22 > 0:58:26The tragedy is that thousands of people could be saved from suffering
0:58:26 > 0:58:30and precious resources - the cost of their care -
0:58:30 > 0:58:33could be redirected to other patients in need.
0:58:56 > 0:58:59Subtitles by Red Bee Media Ltd
0:58:59 > 0:59:02Email subtitling@bbc.co.uk