Baby To Be Born Without the Gene For Breast Cancer

manoftin writes to tell us that next week a baby will be born without the gene for breast cancer, according to the BBC. "But he said that, in this case, not carrying the BRCA1 gene would not guarantee any daughter born to the couple would be unaffected by breast cancer because there are other genetic and environmental causes. Dr Alan Thornhill, scientific director of the London Bridge Fertility, Gynaecology and Genetics Centre, said: 'While the technology and approach used in this case is fairly routine, it is the first time in the UK that a family has successfully eliminated a mutant breast cancer gene for their child. It is a victory for both the parents and the HFEA that licensed this treatment.'"

Comments

Tough choice

[alain94040]

For once, I'll recommend to RTFA first before commenting. It's a tough choice.

On one hand, it's great that a family with such a tough hereditary problem can know that their kids and grand-kids won't be affected. On the other hand, I'm just so scared of the consequences: we are playing with nature and past experience shows that we usually don't fully understand the long-term consequences of our actions. We usually regret such experiments.

But who am I to tell this family to go ahead and accept brest cancer? Can you look them in the eye and say "choose cancer"?

--
fairsoftware.net -- Software Bill Of Rights: transparency, equal rights and revenue sharing

Re:Tough choice

[EdipisReks]

On the other hand, I'm just so scared of the consequences: we are playing with nature and past experience shows that we usually don't fully understand the long-term consequences of our actions. We usually regret such experiments.

nature played with us first, it's only fair that we reciprocate.

Re:Tough choice

[Hungus]

Best advice from the article: "In addition, we must not forget the embryos which were discarded because they did carry the gene."

now the part that will unfortunately get me modded flamebait:
The easiest way to make certain someone never gets a disease is to kill them before the get it. There are plenty of children needing adoption for this entire scenario to have been avoided

Re:Tough choice

[Darundal]

All that happened was screening. They didn't screw with nature, they just took a peek to see whether the embryo had the gene or not.

Re:Tough choice

[eldavojohn]

Can you look them in the eye and say "choose cancer"?

No, no I can't. I can, however, look them in the eye and say that removing any amount of genetic material or replacing it can have unexpected results. I'm not a biologist of any sort but we still don't have a full understanding of the human genome. Mapping, sure, but we're largely ignorant of what everything does.

Assuming they can assure that this will only effect the cancer risk, then they should go for it.

I recall a study that removed what was thought of as "junk DNA" from mice. In which case, they were badly deformed and doomed from birth because that "junk" was actually acting as a decoy or buffer or something (I don't think they ever really figured it out) to absorb deformities. From the article:

Hirotsune's team made their discovery during an unrelated study in which they inserted a fruit fly gene into embryonic mice. The fruit fly DNA disrupted the mouse pseudogene for makorin1, a gene thought to be associated with bone and kidney development. Most of the mice in this line died within days of birth, exhibiting severe kidney and bone deformities, even though the proper makorin1 gene was unaffected. Putting additional copies of makorin1 or its pseudogene into the mice helped only somewhat. But when Hirotsune reintroduced an intact copy of the original pseudogene into mouse embryos, the animals developed normally.

So assuming this gene has no other function unfortunately might be something we don't find out ... until we try it.

I sincerely wish them and their offspring the best of luck at leading full healthy lives. Were I in their place, I would be considering adoption.

Re:Tough choice

[AuMatar]

Plenty of children, but not plenty of infants. There's a lack of babies, if you want to adopt and take less than a few years you're limited to grown children. Many of them have emotional or physical handicaps and severe mental issues. Anyone who adopts one gets high praise from me, but I don't fault anyone who doesn't have the courage to do so. And most people want a baby that they can raise from birth, not someone already halfway grown.

Re:Tough choice

[Chris Burke]

All that happened was screening. They didn't screw with nature, they just took a peek to see whether the embryo had the gene or not.

That's all they did in GATTACA too. Screen embryos for (un)desirable genetic traits, and pick which one to implant. That's exactly what they did here.

Re:Tough choice

[aztektum]

I want to adopt a 25/yr old w/ his own apartment and steady job.

Re:Tough choice

[Golddess]

"Oh, so mother nature needs a favor? Well, maybe she should have thought of that when she was besetting us with droughts and floods and poison monkeys."

To add a bit of my own to this, we require nature to survive, nature does not require us. That's not to say that we cannot play by the same rules in order to game the system so-to-speak. But if we should end up failing, nature will just keep on going.

Re:Tough choice

[Tubal-Cain]

only the embryos are no more a human than that egg you had for breakfast is a chicken

I disagree. Most of those eggs in the supermarket are unfertilized. A fertilized egg is an actual chicken. I just don't care about chickens as much as I do people. You can't point to any one spot in an embryo's development (except fertilization) and say "There. Now it is human." With that ambiguity, is it not better to err on the side of caution?

with the end result being people having some incurable genetic illness.

Are the majority of disabled individuals unhappy that they are alive? It's not our place to make that judgment for them.

whats ethical about allowing someone to die a horrible death from cancer when you could have most likely been prevented?

This isn't really prevention. Sure, the child that is born will have a reduced risk of breast cancer, but that is because they simply throw out the ones that don't meet their criteria. So instead of having a higher chance of dying from breast cancer, these rejects have a guarantee of dying because their chances are higher than the one that was selected.

Re:Tough choice

[Chris Burke]

They also gave addition features.

I just re-watched the movie a few days ago, and they did not perform any genetic manipulation. They merely screened thousands and thousands of embryos and selected the "best" one. That's part of what's so fascinating about the movie, that the only sci-fi involved is the extremely fast and predictive genetic tests.

Well, and manned missions to Titan, but you get my point.

Whether it's people with genetic changes, or blue hair, or aliens. makes no difference. it's a story about discrimination.

That's absolutely true. I'm just pointing out the same issues are present here. Not with this case directly. But as it becomes cheaper, easier, more reliable, and we can screen for more things. First it only made sense for cases where there was a guarantee of a serious inherited disease. Now it's used for a case where there's a very high risk of a serious disease associated with the gene. Next will be lower risk factors, or diseases with less serious consequences. Past that, we'll have to start making the same hard choices about how we want to proceed that the society of GATTACA had to make before it crystallized into the form in the movie.

Don't get me wrong, there's no way I could say that this particular case is anything but an amazing advance of medicine and a good thing. But that's how tough ethical choices begin, isn't it.

Re:Tough choice

[Chris Daniel]

You can't point to any one spot in an embryo's development (except fertilization) and say "There. Now it is human." With that ambiguity, is it not better to err on the side of caution?

FTFA:

Pre-implantation genetic diagnosis (PGD) involves taking a cell from an embryo at the eight-cell stage of development, when it is around three-days old, and testing it.

I can certainly point to this spot and say "There. It is not yet human." It is eight cells. What counts is a nervous system and perhaps some sort of brain function. We can surely agree on some sort of "fuzzy" criteria that say "if it looks like it could feel pain or might be self-aware, don't kill it." I think this stage is safely below any such possible criteria.

I understand wanting to protect life, but saying that even the potential for life must be protected can be taken to absurd extremes -- as religious proscription of contraceptive measures has shown -- and is really just absurd in itself.

Re:Tough choice

[Tubal-Cain]

What counts is a nervous system and perhaps some sort of brain function

So 5 minutes before we could identify brain function, it isn't alive? The boundary is just too fuzzy. An embryo hasn't developed a great deal compared to where it was a hour beforehand.

I understand wanting to protect life, but saying that even the potential for life must be protected can be taken to absurd extremes -- as religious proscription of contraceptive measures has shown -- and is really just absurd in itself.

I agree, potential for life != life. That's why I don't care one way or the other about preventive contraception. But I am not of the opinion that a fertilized egg is merely "potential life".
I feel that conception is a good point because it is the single most defining instant of a human's development. The eggs and sperm won't grow into an adult human on their own, no matter how much nutrients you give them. An embryo will.

Re:Tough choice

[g2devi]

Actually, in Ancient Roman society, babies were never adopted...only teens. Why? Because when children reach their teens, you can know their character and if you want to trust them with carrying on your inheritance and your family name. With babies, you never know they'll turn up. In the nature versus nurture forming of character, you might provide good nurture but still turn out bad because of nature (aka genetics).

Re:Tough choice

[Vellmont]

But it's not. My point is that we do (or rather will) have to consider the same ethical questions the movie raises, and it doesn't require genetic manipulation.

Do you really believe genetic screening hasn't been going on for years? Amniocentesis and the ability to diagnose downs syndrome in a fetus has been around for 40 years. I don't know how long it's been a routine procedure, but I'd guess 20 years or more.

The movie is still a movie, and I really don't think the "issues" that it raises are going to be the hard ones (nor is this breast cancer thing a hard question).

He's an example of a hard question for you. Suppose we find a gene that highly correlates with homosexuality.. let's say 80%. What then? Here's a slightly easier one (and likely more plausible). What do we do about fetal testing for deafness? (I think we've already found genes responsible for that).
 

Re:Tough choice

[Conception]

GATTACA always bothered me since you don't see Vincent's success, only that he was lucky enough to trick the system. Despite the movie's message, in the end he wasn't fit enough to go, his heart wasn't strong enough as shown in the treadmill scene, and his eyesight was a serious liability. I always had to wonder at the end of the movie when he's going into space if his heart gave out in the second month, or he lost a contact or some other thing that they tried to screen for that cost the success of the mission and potentially the lives of the other members of the crew.

I know the message the movie was giving, and in terms of his relationship with what's her face it seemed to be more poignant, but I couldn't help think that his actions were all hubris and were a huge risk to the mission and its crew.

Re:Tough choice

[Mr Z]

Of course, in the article's case, they didn't remove anything. They screened out the embryos that had the undesirable gene. It's like the difference between buying a car with an automatic and trying to convert it to manual, versus only considering cars that come with manual transmissions when shopping.

I do think it's fascinating that so much of the "junk" DNA may actually do something useful. It'll be interesting to find out exactly what.

Re:Tough choice

[morgan_greywolf]

I've already adopted a 25/yr w/her own apartment and a steady job. It's not all it's cracked up to be. Trust me.

Re:Tough choice

[mdwh2]

So 5 minutes before we could identify brain function, it isn't alive?

This is beside the point. The issue isn't 5 minutes before, it's when there are only 8 cells. Just because the line might be fuzzy, doesn't mean that there is uncertainty at 8 cells. If you are that worried about getting it wrong, that argument works just as well before conception.

I feel that conception is a good point because it is the single most defining instant of a human's development.

What does "most defining instant" mean?

The eggs and sperm won't grow into an adult human on their own, no matter how much nutrients you give them. An embryo will.

No it won't - you need to attach it to a womb, and even then success is far from certain. The embryos in question had not yet been implanted.

Re:Tough choice

[mdwh2]

These are the characteristics we use to define a single-celled bacteria as life. So it seems that at conception we can safely assume that the zygote is life.

Of course it is living - that doesn't mean that it's unethical to end that life. Also note that sperm and egg cells are living.

So at least one of these must be true:
* It's wrong to kill bacteria.
* Millions of living creatures are murdered when someone has sex.
* Sperm and egg cells aren't alive, and unliving things magically turn into living things when they combine.

I'd be interested to know if you believe any of those three things.

This is the characteristic we currently use to define life as a separate entity, ie not the mother, and not the father.

So twins are the same entity? That's a poor definition. The argument stands for sperm and egg cells, too.

Re:Tough choice

[timeOday]

But there is something to his point. As a parent of 4 children, I've been very surprised the degree to which they each turn out differently and the results of parenting technique are not deterministic. Thus taking on an infant (whether your own or somebody else's) is a roll of the dice. One of my children has serious emotional problems and it is a heavy burden for the whole family, almost every hour of every day, and I grieve that his future will not be what anybody would hope for. But whether it would have been better to discard him as an embryo and let "him" live in the next body, as a somewhat different person, is one of those funny questions that will never have a good answer.

Re:Tough choice

[Lachrymite]

So he was good enough to circumvent a system designed to prevent people like him from acheiving success and you say he wasn't successful? Just what exactly is your definition of success?!?

Being able to fake your way through a qualifications system does not mean you are going to be able to fake your way through the end job. If I forge a law school diploma it doesn't mean I'm suddenly magically qualified to be a lawyer.

One of the points of the movie that genes are not the sum of the person.

Except that more and more we are learning that they are. A good movie does not refute science just because it's entertaining.

Re:Tough choice

[the_humeister]

So is the Hela cell-line that's used in most laboratories. Would you consider that human?

Re:Tough choice

[hairyfeet]

I used to not believe in "Nature VS Nurture" until it happened in my family.

I wasn't one to believe that it was strictly DNA that made us who we are, always believing that it was whether we were raised with love. Then I got to see living proof with my own eyes. Aunt Edna and Uncle Larry were 2 of the sweetest folks you'd ever meet. Kind, friendly, hard working country folks with a nice little farm outside of town. Now Edna(or Eddie as we all called her) was told the odds of her having kids was pretty much zero, so in the early 70's they adopted Rocky who was barely 6 months old. The boy hadn't been abused or neglected, and was healthy as can be. A few months later by some miracle Eddie gets pregnant and has Donald. Now these folks never made a single bit of difference in those kids, hell they wouldn't even let the family say anything about Rocky being adopted. As far as they were concerned they were both gifts from God and that was that.

It didn't take us long to realize something was seriously wrong with Rocky. If you have ever heard the phrase "bad seed" it was all too true with him. Animal cruelty and torture, vicious behavior, you name it. Meanwhile his brother Donald was the nicest boy you ever want to meet. Finally at the age of 14 they got the court to unseal the records in the hopes of talking to one or both of the biological parents to see if there was a history of mental illness after he slaughtered the neighbor's cat. What they found in the record was the stuff of nightmares. It turned out Rocky was born in prison where he mother was doing a stretch because she tried to kill a john by slitting his throat over a money dispute. And the father...damn. The father was her pimp and got into a bar fight and when he lost he calmly went to his car, took out a hatchet out of the trunk, and went back in the bar where he proceeded to chop the guy all to hell, killing him of course.

After trying everything they could they finally had to get a restraining order against Rocky when he turned 18. He has spent nearly his entire adult life in prison, and is currently serving life in Texas for a dope dealer robbery that went bad resulting in a death. Donald has never been arrested and lives a nice life with his wife and 2 kids. So until they change the rules to where an adoptive parent gets at least the medical and psych history of the birth parents I would be seriously afraid to adopt a child. Taking care of a child with an obvious physical disability is one thing, but if you got a child that had a family history of serious mental disorders you could be putting the lives of your entire family at risk. So does anybody know if they even warn adoptive parents about such things? Or do they just leave it like a ticking time bomb for the parents to find out about the hard way?

Re:Tough choice

[Tanktalus]

Conversely, DNA can't be everything. I have a set of identical-twin cousins who are excellent examples. Their mother left them when they were young (somewhere between 4 and 6, I don't remember too well as I wasn't that old, either), leaving their father (my dad's brother) to raise them (and get remarried and have a slew of kids with his new wife, too). Anyway, one turned out as a risk-taker and gay, the other is neither. Same household, even same genes. There's gotta be more to it than that. (Of course, I'll get modded down for pointing out that genes also can't be the end-all and be-all of determining sexuality, either, since these two ARE identical twins and still ended up not having the same sexuality. Anecdotes != data, but this is simply a counter-example that seems to me to disprove that theory.)

Neither of the boys (well, they're over 18 now, so "men") are psychologically perfect (who is?), but they are definitely quite far apart in personality despite both same genes and same upbringing.

Re:Tough choice

[Tubal-Cain]

No it won't. First, the embryo needs to be free of genetic defects.

I assume you mean "free of extensive genetic defects". If they truly were free of defects, we wouldn't have hereditary genetic diseases.
I would still count it as human, although I would not be surprised if it miscarries very soon (maybe even before the first cell division?). Unfortunate, but it happens. The important thing is that it died because there was nothing we could do to prevent it, not because someone decided to kill it.

Second, the embryo needs to be implanted.

Is malaria part of the body, or a separate organism? Tapeworm? Just because an organism is dependent on a host for survival, that doesn't make the two a single entity. Same with embryos. Totally dependent on the mother's body for nourishment and protection, but it is not a part of the mother.

The point of conception as a defining moment of human-hood is not the best approach, unless you're willing to define any egg+diploid human DNA = human.

By Jove, I think he's got it!

Re:Tough choice

[GreatBunzinni]

So he was good enough to circumvent a system designed to prevent people like him from acheiving success and you say he wasn't successful? Just what exactly is your definition of success?!?

Pulling a fast one on the system's selection process so that it selects a clearly inferior and inapt candidate for the task is not by any way a definition of success. The character succeeded in stealing the identity of a qualifiable candidate and evading the selection process. Yet, the story doesn't approach the part that really matters: the part where the character does indeed needs to put his genetic traits to the test. Sure, myopia is no biggie but cardiac problems that result in a life expectancy of 30.2 years sure can cause a bit of trouble in long space travels.

And what happened if one of those "qualified" people tripped and broke their neck, or made a bad decision that led to mission failure, or a faulty part on the craft killed them all, etc.

One of the points of the movie that genes are not the sum of the person.

That isn't the point. The point is that the genetic testing was put in place in order to eliminate needless problems that could be caused by health problems arising from genetic defects. Indeed a "qualified" astronaut could break his/her neck but so does the unqualified astronaut, which means it's irrelevant. The point is that the unqualified astronaut suffers from a genetic-based cardiac defect. What if his heart craps up on him in the middle of the trip to Titan? What else then? Should the mission be forced to nurse a corpse through the entire mission and be chronically and maybe critically sub-manned through the entire mission? That problem, which is a massive problem, could be avoided. By genetic testing. That the character violated through identity theft. That's the point.

Re:Tough choice

[ghostlibrary]

"GATTACA always bothered me since you don't see Vincent's success, only that he was lucky enough to trick the system."

Actually, you see his success constantly-- he scores highest in the various orbital/piloting tests, impresses them with his work ethic, and so on. It's only the purely physical criteria that was a problem-- and note he does perform the physical tests at a high level (even though he's a wreck afterwards). He's even able to outswim his more 'perfect' brother-- and save his brother from drowning in the process.

So put it this way. Your ship is in trouble. Do you want a pilot who has never had to struggle a minute in his life nor faced a real challenge, or do you want a pilot with the tenacity to achieve even with the deck stacked against him?

Re:Tough choice

[TrekkieGod]

Despite the movie's message, in the end he wasn't fit enough to go, his heart wasn't strong enough as shown in the treadmill scene...

That wasn't his heart defect cropping up. That was him pushing himself farther than he could (he was running for a longer period of time than his fitness level should allow). He did this because he had assumed the identity of someone who was a genetic match to become a great athlete (although Jerome apparently didn't have the drive to achieve his potential). He didn't have a heart attack and need hospitalization, he was just completely and utterly out of breath. Notice he didn't have any problems with his heart when he was swimming against his brother. He was probably in the best physical shape he could be, but it wasn't enough to match what was expected of Jerome. That's normal. If I had spent the last 15 years training and running, I still wouldn't be a match for an olympic athlete. Training is a necessary but insufficient condition to compete at that level: you need to be born with something too.

They made a point in the movie of describing Vincent's screening as coming up with a *high percentage chance* of heart failure, and not an actual health problem. He was willing to accept the risk, but nobody else was willing to invest in him. The risk-aversion of insurance companies was mentioned when Vincent's mother was unable to enroll him in a school (or child care, I don't remember).

In addition, becoming a gattaca astronaut was probably a bit like becoming a NASA astronaut: a lot of people want to do it, so the competition is fierce enough that they get to pay you a comparatively low salary and the job requirements are far above and beyond what should be needed to determine if you're qualified for the job. As long as we have so many applicants to choose from, let's go ahead and get the person capable of being an olympic athlete. He's never going to have to run a marathon in space, but why the hell not pick the best?

In short, Vincent is just going to have to exercise enough to not lose too much muscle and bone mass while in space. His eyesight isn't an issue as long as he took his contacts with him. What's going to get used the most is his brain, so he can conduct the scientific mission he was sent for. He proved he was qualified in that area when he designed the mission he was going on (without a single mistake, which apparently was unusual enough to warrant mention by his boss).

Intelligent Design!

[z-j-y]

(is it a boy or a girl?)

Re:Intelligent Design!

[glavenoid]

Moot point. This cancer is possible in both sexes.

Re:Intelligent Design!

[nbert]

IIRC the ratio between women and men affected by breast cancer is 100:1. So it makes a big difference.

However, those statistics are about breast cancer in general. Maybe someone with a medical background can enlighten us about the specific ratio of BRCA1.

New how?

[againjj]

I don't understand what the real difference is from other types of embryo screening. Sure, there was a different method of screening here, but otherwise screening like this has been going on for a while. No new ethical implications that I see.

And os it begins...

[theaveng]

The first step is taken on the road to GATTACA.*

*
*A movie about children being screened for superior genes - and also the children who become "rejects" in society because they were naturally born with inferior genes. If you haven't seen this movie, I highly recommend it. A great science story.

damn you

[nawcom]

Ayyy there wait one god-lovin minute!! You can make God-n-baby Jesus's decisions for dem!!! You damn city slickers er goin da hell yah hear?!?!?! If God wants someone da have tit cancer they'll have it!! You city slickers n yer crazy scientific method... *spits in empty faygo bottle*

Not quite so straightforward

[estitabarnak]

BRCA1 is a known proto-oncogene with the potential to become an oncogene. That is, there are known, relatively common mutations that can occur on BRCA1 that will cause it to malfunction and cause/support cancer. However, in it's normal working function, BRCA1 is actually a tumor suppressor. So there is the distinct possibility that by knocking out BRCA that other, unintended consequences will result...

Re:Not quite so straightforward

[quenda]

by knocking out BRCA that other, unintended consequences will result...

They are not knocking it out. They are selecting an embryo which has inherited the good (not known bad) copy of the BRCA gene.

hold the phone

[Eil]

"licensed this treatment"?

That is without a doubt one of the scariest things I've read lately.

Re:hold the phone

[arkhan_jg]

The HFEA is the Human Fertilisation and Embryology Authority, the UK government regulator of treatments than involve well, embryos.

They approve treatments that are reasonably safe and ethical; and deny approval for treatments that are unsafe or unethical.

The US has the FDA to do the exact same thing for other treatments. I honestly don't see how legal regulation to prevent free-for-all medical treatment where the layman has no idea whether a given treatment is safe* or not is a bad thing.

*For reasonable definitions of safe, there's no such thing as zero risk when dealing with medical treatments.

Re:No proof

[4D6963]

It's bloody SCREENING. They're not putting together genes for fuck's sake! And as for "no proof" thing, it's all about odds, i.e. going from "very likely to get cancer" to "about as likely as the general population".

God, bored people can be so full of shit, can't take a piece of good news without having to wave the Impending Doom stick.

big deal

[commodoresloat]

Most babies are born not wearing any jeans at all!

Re:We need gene engineering like this

[Cassius Corodes]

Mod parent up, I've just come back from the future.

Eugenics

[mgrivich]

We have a word for this, and the word is eugenics. How long until the threshold for undesirability is softened to a heart condition, or baldness? How long until the decisions are politically or religiously motivated? Killing the undesirables so that the "proper" children may thrive is a lesson we should not have to learn again. Yes, Godwin, but here the analogy is apt.

Mutations in BRCA1 are linked to breast cancer

[jcmurray]

Just to clarify the headline and summary, and as is pointed out in the quote from Dr. Alan Thornhill in the original article:

Mutations in BRCA1 are linked to breast cancer , not just having the BRCA1 gene itself. BRCA1 is a critical tumor suppressor gene that helps maintain genomic integrity. Again, specific mutations in BRCA1 have been linked to breast cancer, not just "carrying the BRCA1 gene". Most of us carry the BRCA1 gene and it is expressed in a wide variety of tissues throughout our bodies. The BBC article uses the language such as "not carrying the BRCA1 gene", this is not entirely appropriate or even the issue at hand. The child will carry the BRCA1 gene, but without the specific mutations linked to breast cancer. (To be even more specific, the child will carry two alleles of the BRCA1 gene, one from each parent, both of which lack the mutations linked to breast cancer.)

What future are people planning for?

[thaig]

I think it's more along the lines that even if you know about someone's genes you still can't predict their life. It's akin to predicting the future which we don't expect to be able to do.

To put it another way: if you don't know the future then how do you know what genes are important? perhaps in the upcoming unplanned world scenario the gene for determination and desire is more important than the one for perfect fitness?

If we plan too much and optimise too much then we are very vulnerable to risk.