On selection and disability
With the help of the Personal Genetics Education Project’s Dana Waring Bateman, I have teamed up with Dr. Chris Korey at the College of Charleston. Both of us are teaching mavericky, genomicky classes this semester and Chris asked if his students could post on genomeboy in response to a series of questions he and Dana developed regarding the use of preimplantation genetic diagnosis to select for or against particular traits. “Anything to crowd out the spam,” I told him. I have modified the questions slightly to make them a bit bloggier.
- When we select for or against a trait, does it change how we as a society view that trait?
- How will the proliferation of sequenced personal genomes change our thoughts on what constitutes a disability? Or will it?
- How and whether genetic and genomic information ultimately leads to the expression of human traits remains unclear. How should that affect our use of this technology?
- Should the government restrict the use of this technology for positive and/or negative selection? Why or why not?
- Is PGD a good idea? Make your case.
I confess I haven’t thought a whole lot about PGD, but I will say this: I see the emergence of this technology as inevitable and I think any attempts to ban it or drastically curtail it will fail. If parents want to select for or against a highly penetrant mendelian trait and they can’t do it in the US, they will go to China or Russia or the Cayman Islands or the UK. And it will only get cheaper. Thus, I think it would behoove regulatory agencies to get off their patooties and try to figure this out. The time for hand-wringing is long past.
Having said that, I worry about what we don’t know regarding the epigenetic effects of PGD and other assisted reproduction technologies. When we’re tiny balls of cells, we are extremely vulnerable. When we mess with a preimplantation embryo’s environment, we are likely to alter that embryo’s patterns of cell division, gene expression and/or morphology.
UPDATE: Will Saletan discusses the advent of increasingly sophisticated prenatal testing and its implications.
Please have at it in the comments.
I work as an Assistant Professor in the Duke University Institute for Genome Sciences & Policy (although this site and its content are my own).
In 2007 I became the fourth subject in Harvard geneticist George Church's Personal Genome Project. As the PGP moves forward, I am chronicling the dawn of personal genomics, that is, people obtaining their genomic information for whatever reason(s) and figuring out what to do with it. I am interested in the relevant technologies and especially the attendant privacy and other ethical/legal/social issues.
This blog may also discuss some of my non-genome interests or, to paraphrase Dwight Yoakam, "Guitars, Cadillacs, hillbilly music, etc etc."
The header image comes from the Liz Lerman Dance Exchange's multimedia performance piece, "Ferocious Beauty: Genome."
October 29th, 2008 at 3:01 pm
Misha,
Judy Willner M.D. first tuned me into this little kerfuffle. She opened my eyes to the epigenetic secrets…….FYI ask an R.E.I. specialist if they track postnatal outcomes……They sure as hell don’t up here! I agree, this bull is out of the barn, big time!
-Steve
October 30th, 2008 at 7:03 pm
I think there are all sorts of lessons to be learned about ways to think about some of these newer technologies by looking back in history a bit. Two examples: Closed adoptions that become quite popular in the 1950s and 1960s. Many of those children who were given up for adoption have fought long, painful battles to try and learn something about their biological parents - whether it be for emotional reasons, or practical ones (family health histories, anyone?), or a combination. Thinking at the time was less about what might be good/right/fair for the children given up for adoption, and more about protecting the often young, scared, and in serious trouble with their families/churches mom and dad. A difficult situation all around. Example two: Kids born of sperm or egg donors. Many of whom are now in the late teens and twenties - I just discovered this: http://cryokidconfessions.blogspot.com/ .
Seriously, have a look. I don’t know if potential parents and donors could have imagined a site like this when they were going through the process..
I agree that the horse is out of the barn when it comes to PGD. To deny families the chance to ensure they have a child free of the fatal childhood cancer that has devastated their family seems like a terribly flawed idea. But the questions of the long term impact of children born of this technology - whether it be epigenetic changes that don’t rear their head until PGD children want to have children of their own, lets say, or the emotional and psychological pain it might cause for individuals or families. To me, its a question of risk: Do the benefits outweigh the risks? And what if that answer is a generation away - how do you proceed?
November 3rd, 2008 at 4:28 am
In regards to the first question, I certainly believe that how we deal with a trait now, could lead to a change in our thoughts about that trait years down the road. What would happen to a family unwilling to undergo this procedure when they had a child that had down syndrome? Would that child be ostracized from their community? Certainly this would not be an issue in the near future but in 5, 10, or 15 years, it could certainly be the case that one family decides to let nature take its course. When we start trying to standardize society, normal traits that make us different become traits that segregate us.
November 4th, 2008 at 5:17 am
I have a hard time making up my mind on so many issues around this subject. Its potential is obviously huge but at the same time very frightening. As far as personal genomes changing our views on what constitutes a disability, the biggest problem I see here would be if health insurance companies were able to get their hands on an individual’s genome. This would most likely lead to increased or decreased “rates” due to specific genetic information that the insurance companies would lay out as disabilities. A disease like Huntington’s that would not affect someone for many years would turn into a genetic disability for a young adult and thus decrease his or her chances of finding health insurance. If this is the case, it’s only a matter of time before we are handed our health insurance bill for the rest of our lives at birth. Aside from this issue, I think the proliferation of personal genomes will only add to our definition of what constitutes a disability. Along with physical and mental disabilities we will also have genetic disabilities.
November 4th, 2008 at 1:34 pm
As a continuation of what you were saying earlier, I believe that the government restricting the use of PGD will ultimately be detrimental to the US. I believe that as time goes by, people become more liberal in what they accept, the same is true for PGD. I think it initially scares people only because they are uneducated on the topic. By allowing PGD to happen, inherited diseases could potentially be a thing of the past. I definitely think that the government should restrict the use of this technology for positive selection only so bad traits are not continuously passed on. But then again, who’s to say what exactly a bad or good trait is?
November 4th, 2008 at 3:48 pm
I think that society does have a skewed view of traits that are either selected for or against. The traits that are selected for will over time be viewed as more desired than the traits not selected for, and consequently, the traits selected against will be somewhat frowned upon by society.
I also find the question regarding the use of genetic technology interesting. Being that the connection between genomic information and the expression of human traits is unclear, I feel that the technology should be used sparingly. Genetic and genomic information is definitely worth researching, but I feel that the funds being used could be used even more in other areas of research.
November 4th, 2008 at 7:35 pm
I believe the society will always have an unethical reasoning for a change of ones genetic traits, however, if it is a trait having to do with a illness that a child will have to suffer for, i believe it is ethical to make that change. Technology has gone so far as to the possibility to select against a fatal gene that parents follow that path to not see their child suffer. In one’s eyes it is for the best for our children but for some of the people in the society this technique is changing human nature. Some people, however, take advantage of this technique and select for genes such as eye color, hair color, and etc. I believe the change of these traits are unethical because it is in no way trying to save a life. In the future, i believe that the selection of traits will be more accepted by the society. The selection of traits, in some aspects, does not harm humanity but help it.
November 4th, 2008 at 7:52 pm
I’m on the fence to whether or not PGD is a good idea. As to almost anything, there are pros and cons. Someone could perform PGD to reduce chances that their baby will not have a certain disease, but what if it doesn’t work? There is a lot to think about. It is inevitable that couples will try PGD . What mom and dad wouldn’t want the best possible life for their child? I’m sure most parents, if there was a way to give their child success, would try everything in their power to do so. If PGD is an viable option and the parents are well informed on the topic, then they should be able to make their own choice about their child. With that said, then why not try it? How will people ever know if PGD is a good idea or a bad one if no one tests it out.
November 4th, 2008 at 11:08 pm
In regards to the last question, it is absolutely astounding to me that not a single person in my biomedical ethics class was as shocked as I was when we read “My Sister’s Keeper.” I even went as far as asking my father, the idealist doctor and the only person I though that would agree with me, if I was missing a key piece of information or did I just not comprehend the story, since it seemed cruel and unfortunate for the poor younger sibling to have to suffer, without consent, for the benefit of another person. My father, along with my classmates, argued that the procedures are painless and since the child was “created” solely for the sake of the older child, they do not see anything wrong with it. I hope there is someone that thinks that abusing an infant’s body in order to save someone else would cause not only potential health problems for the child, but also the psychological disorders that must develop from being produced not because you were wanted or loved, but because your sister or brother were ill and you were a convenience. Besides creating tissue matches and selecting for a disability (such as deaf parents selecting for a deaf child), it appears to me that this technique has more positive outcomes than negative ones, if not abused. Needless to say, the life expectancy and future health complications of these PGD individuals should be monitored closely.
November 5th, 2008 at 5:16 am
After reading over all the main post, and many of the responces, one thing sticks out to me. It is from #2, do the benefits outway the risks? It is inevitable that parents will want the best for their children, and as technology advances, that will include, preventing major diseases and disorders through PGD. As parents begin to select against traits that are against the norm, such as deafness and dwarfism, it will make those who possess the disorder even more out of the norm, and they you will come into the realm of a child who is born with a disorder because their parents could not afford PGD, and then possibly being more ostracized, because of a decreased presence of undesirable traits.
As technology advances, people will always be curious and experimentive with its possibilties, this includes PGD. It is essentail to ensure the safety of all individials that it is regulated in some manner, by an administrative body. It is essential that PGD be fully researched, because the desired outcomes may not be what normally occurs when messing with the start of life. Personally, I am on the fence as to whether PGD should be allowed or not. There are certainly benefits to it, when one is selecting against debilitating diseases and traits, however, will it always be successful. This will never be known unless we throughly research PGD. Ultimately it comes down to an will come down to, do the benefits outweight the risks?
November 5th, 2008 at 7:33 am
In regards to the first question…
If we start selecting for certain traits, then it would seem that we as a society would be altering the very nature of normal reproduction. Instead of having children, we would essentially be engineering children. I know this is a rather crude analogy, but it seems that we would just be selecting traits from a buffet line of our choice. This topic was actually discussed in another class of mine (sports ethics) as an issue to be dealt with in the future of athletics. Does the child selected for height have to play basketball? Or, how is the child selected for height to play basketball any less cheating than a baseball or football player taking steroids? Both practices would provide an unfair advantage at the expense of others.
Also, it seems to me that a ubiquitous theme of biology is that genetic diversity is critical to the survival of any one species. Why should we assume humans would be any different? If the ability to select for traits became increasingly common and increasingly less expensive, then, over time, it seems that certain traits would become more and more common; therefore, there would be less genetic diversity. If this practice was wide spread among all humans over a very long period of time, would not the ultimate result be a convergent, less diverse (and thus vulnerable) human race?
November 5th, 2008 at 1:06 pm
As pessimistic as this sounds, human beings, as a whole, tend to be greedy and irresponsible when it comes to making wise decisions. Because of this predisposition, I feel that it’s going to be necessary for the government to start putting regulations on technologies such as PGD, such as the UK has done. Skirting around the pure ethics of the issue, it strikes me that human influence on phenotypes takes away the natural order and balance of things; what ever happened to natural selection? Although not in the religious sense, things happen for a reason. We may not like the idea of our children being born with certain illnesses or traits, but that is the natural order of things and I don’t think it’s something that we should toy around with because we as parents want our children to be a certain way. Therefore, I think government regulation, if done correctly, can help preserve the integrity of natural selection. Good government regulation will also help ensure that there are protocols in place for procedures that will help protect the parents and the children involved. More importantly, I think that good regulation will also make people think about their decision a little more strongly if they know that they have to have it approved. Hopefully, it would make it more difficult for parents who are making the decision to use these technologies for petty reasons (in my opinion) to use these technologies, and would only allow parents who have more valid reasons for wanting to use these technologies to use them.
November 5th, 2008 at 9:58 pm
Well said- PGD shouldn’t be so black and white, it’s somewhat of a gray area. Instead of being all or none, PGD should have stipulations and guidelines. Without some sort of regulation an unforeseen disaster may come up down the road.
November 6th, 2008 at 3:25 pm
[…] month, Dr. Misha Angrist is the guest participant and he’s hosting a discussion on preimplantation genetic diagnosis (PGD), selection and disability on his blog, Genomeboy. I hope you’ll join in the students in conversation […]
November 6th, 2008 at 3:57 pm
Speaking as a parent, if I had a strong family history of a debilitating, painful, life-shortening disease, I’d do all I can to prevent my kids from getting it too. Prior to PGD, perhaps the only option for people with such a family history was to NOT have children at all. A difficult choice.
Speaking as a scientist, I have the same concerns as many of you that the procedure occurs in a milieu that may cause future problems for these children. Even children born of IVF which is a well-accepted technique nowadays may face more health problems than the average population. That’s not to say, however, that they do not enjoy a good quality of life so who’s to say whether IVF or PGD are good or bad in this respect?
With respect to PGD pushing us faster down the road towards genetically engineering our offspring, I’d recommend Enough: Genetic Engineering and the End of Human Nature by Bill McKibben. He thinks that we are already dangerously close to being able to stipulate what traits we want our children to have. McKibben says that any form of genetic engineering could make us wonder who we really are - the product of our genes or the product of our hard work, self-reliance, and inspiration?
November 6th, 2008 at 4:01 pm
FYI, in the US, the title of McKibben’s book is Enough: Staying Human in an Engineered Age.
November 6th, 2008 at 8:34 pm
Thanks for stopping by, Hsien! Are you going to ASHG?
I happen to think McKibben is way off base–he sounds like Leon Kass. I’m a lot more worried about birth defects and epigenetic problems stemming from PGD than I am about any type of GATTACA scenario.
November 7th, 2008 at 2:18 am
I think McKibben’s an alarmist too but he does it in such grand style that it’s worth reading.
No ASHG for me this year. In fact, I haven’t been to a meeting in almost 10 years. What a loser….
November 7th, 2008 at 3:33 pm
Dr Korey’s students: I have really enjoyed reading your comments. Part of why I think this is an important discussion to have is because you are all going to be faced with sorting this all out - in your jobs as scientists, doctors, lawyers or policy people, and of course, for a few of you - this might be something you may find yourself thinking about as you start your own families. In looking at the comments, I see a lot of thinking about the issue of fairness and regulation. These two issues go hand in hand. There are some health plans that cover PGD with HLA typing (Blue Cross Blue Shield of Mass is one that I know of). But, for the most part - if you can afford it, you can use it - and for whatever purpose you want, within the still limited but improving and expanding technology. As Misha points out, an outright ban on the procedure will lead to simply making it available only to the super-wealthy, who will go abroad and pay privately to countries without bans or less restrictions. That doesn’t sound like much of a solution to me.
Have a look at www.dnapolicy.org - they have done a lot of research about public attitudes regarding PGD. This, in combination with a growing body of literature about the scientific risks and limits, could form the basis for a sane and productive policy discussion. President-elect Obama is interested in these issues - his Personalized Medicine and Genomics Act is in the Senate at the moment. (see www.thomas.gov to read more)
Finally, one last point: The stats can be a bit fuzzy, but somewhere in the order of 1/3 of all U.S. births are thought to be the result of an unintended pregnancy! My point is that the fear of widespread “designer babies” doesn’t much take into account the fact that babies are made by humans, and that human behavior can be difficult to predict.
November 7th, 2008 at 5:58 pm
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November 18th, 2008 at 7:26 pm
I agree with Stephen one hundred percent. It is the diversity among us that has allowed us to grow as a species. Natural selection can not operate if there is no diversity for it to select from. I agree with the people that wrote that we should do as much as we can to help a child from suffering, but on a certain level, we have to take into account the long term effects of everything we do. So, while the genetic engineering of babies might seem to be beneficial from the aspect of eliminating immediate “suffering,” from the aspect of natural selection, it can only be viewed as detrimental.
November 18th, 2008 at 8:16 pm
I agree with Sam as far as our tendencies in making decisions as humans. Often, we ignore historical trends or the possibility of future consequences in order to make decisions that suite us best in the present. I think the average person that hears about any form of genetic engineering only sees it as a great new technology with tremendous positive possibilities. This being said, I believe it must be regulated strongly. However, I also agree very strongly with Hsien’s stance as a parent and I’m sure most parents would share her feelings as well. If the technology is available, who wouldn’t want to prevent their child from receiving any type of disease?
November 19th, 2008 at 4:25 am
In response to Nicole Sztokman, I find it a bit odd that not a single person in your biomedical ethics class shared your views. Personally, I tend to ride the fence on this particular point because both sides have such compelling arguments. I do agree with you in that the child, who was born to benefit the older sibling, will ultimately grow up feeling used to some extent. I also believe that it depends on how you raise that child as well. Obviously if you treat them as second class there will be these psychological issues, but if you raise that child to be equal of the older sibling, I feel that it would be less of an issue. I, too, think that if this technique is not abused ,it will yield great results in helping children who would have otherwise died, live a full life.
November 20th, 2008 at 4:15 am
I agree with the sense that PGD will happen to some degree, no matter what regulations might be imposed by government. And I would imagine that decisions about PGD for particular traits would at first reflect society’s views of what’s disease vs normal variation, but could over time alter those views should the process gain momentum.
Ultimately, though, I think the focus will be primarily on relatively rare mendelian traits, where such traits are clearly considered to be and commonly accepted as deleterious. Even then, though, the long-term effect of the procedure will be poorly understood, which may limit acceptance. I don’t think natural variation would come to a halt, and besides, we’ve been interupting human natural selection for a while already (Darwin Awards notwithstanding!).
I think it will be difficult to apply PGD to most of the common complex genetic disorders that are so multifactorial and polygenic (and problematic). In fact, polymorphisms that increase risk for one disease can be protective for another, and the genome is integrative in ways that we barely understand now, so deciding what to select becomes quite difficult! All of this doesn’t even consider the important point you raise about epigenetics, etc.
The proliferation of personal sequenced genomes (thanks for sharing!) should have a profound impact on what we consider to be genetic risks, assuming that this information teaches us about hidden aspects of heritability. When common genetic variation can apparently explain so little, seeing many genomes should be illuminating (again, thanks!)
One final point (and I come with no particular religious ax to grind) - how do we reconcile the notion that we can treat a pre-implantation embryo as a potential patient whom we might diagnose, with the idea that the same (roughly) collection of cells provides a potentially valuable reagent for medical research. Technology can create serious conundrums!
ps. It was nice to speak with you at ASHG. Hope you’re enjoying Durham - I’m still a little envious!