Issues Surrounding the Human Genome Project

Riki's picture

Biology in Society Senior Seminar

Bryn Mawr College, Fall 2010

Session 8

 

 

Issues Surrounding the Human Genome Project

“One thing only I know, and that is that I know nothing.” – Socrates

 

Questions:

  • What are the ethical implications of the Human Genome Project?
  • How does hype like that which surrounded the Human Genome Project affect scientific method?
  • Does the Human Genome Project expose limitations or possibilities of human knowledge?

 

Background

The Human Genome Project was started in 1990 and completed in 2003. Its goal was to sequence the entire human genome.

Interview in 2000 with Francis Collins, director of the HGP at the NIH: “In the next five to seven years, we should identify the genetic susceptibility factors for virtually all common diseases -- cancer, diabetes, heart disease, the major mental illnesses -- on down that list. Out of that will come the ability to make predictions about who's at risk and, in many instances, that itself can be extremely helpful by allowing you to take advantage of surveillance, so that you are diagnosed early before a real problem arises. In the longer term -- perhaps ten or 15 years -- this will lead to a new generation of therapies that is going to be much more successful and effectively targeted towards the basic problem than what we have now.”

Regarding the completion of the rough draft of the Human Genome Project: "With this profound new knowledge, humankind is on the verge of gaining immense, new power to heal. It will revolutionize the diagnosis, prevention and treatment of most, if not all, human diseases." – Bill Clinton, June 26, 2000

Currently:

  • Little clinical/medical impact

  • No personalized medicine

  • No new cures

  • Lack of explanations for disease heritability

  • Lack of explanations for disease cause

  • 3,800 genomes of different organisms sequenced

  • better sequencing technology

 

"We fooled ourselves into thinking the genome was going to be a transparent blueprint, but it's not." -- Mel Greaves, cell biologist at the Institute of Cancer Research

 

What are the ethical implications of the Human Genome Project?

One of the main hopes for the future of medicine is gene therapy, which could not be possible without the Human Genome Project. “In germ line therapy, the DNA of germ cells would be affected, the objective being to correct a genetic defect once and for all, in all descendants of the therapy recipient who will inherit the modified allele” – Alex Mauron, Ethical aspects of gene therapy. Is it ok to give someone germ line therapy if only they, and none of their descendants, have given consent? Should germ line therapy be permissible?

 

What message does the idea of gene therapy convey? 

 

“There's also this issue of what are we saying to people who are disabled if the effort becomes to basically avoid that kind of outcome? Does that mean that their existence is considered secondary in terms of its value, compared to the mythical perfect person? I think there's a serious issue here in terms of our attitude towards diversity in our ranks -- diversity of all sorts, including disabilities. If we set up a goal to try to eliminate some segment of our own population, what are we saying about our benevolence, about our willingness to accept differences?” – Francis Collins

 

What is the difference between gene therapy and enhancement?

 

Should doctors test for susceptibility if there is no treatment?

 

How does hype like that which surrounds the Human Genome Project affect scientific methods and exploration?

 

"Enthusiastic supporters of the HGP weaved a network of reinforcing feedbacks that led to a widespread endorsement and extraordinary commitment by those involved in the project" – Monika Gisler

 

“As the cost falls and evidence grows, there will be increasing merit in obtaining complete-genome sequences for each of us, and storing that information, with appropriate privacy protections, in our medical records, where it will be quickly available to guide prevention strategies or medication choice.” – Francis Collins, 1 April 2010

 

The genomes of more than 3,800 organisms have been sequenced. But what are scientists doing with all of this raw data? There is a $10-million prize for the first team to build a machine to sequence 100 human genomes in 10 days. Why are we so strongly encouraging scientists to focus on developing cheaper sequencing techniques rather than analyzing the data we already have?

 

“During the twentieth century, biology — traditionally a descriptive science — became one of hypothesis-driven experimentation. Tightly coupled with this was the increasing dominance of reductionism, the idea that complex biological systems can be understood by dismantling them into their constituent pieces and studying each in isolation. Implicit here was the notion that observations should only be made to support or attack hypothesized mechanisms of action, and that simple observation — phenomenology for its own sake — is of relatively little use.” – Robert Weinberg, Whitehead Institute for Biomedical Research

 

"Biology is entering a period where the science can be underlaid by explanatory and predictive principles, rather than little bits of causality swimming in a sea of phenomenology." -- Eric Davidson, California Institute of Technology

 

Does the Human Genome Project expose limitations or possibilities of human knowledge?

 

"Just the sheer existence of these exotic regulators suggests that our understanding about the most basic things — such as how a cell turns on and off — is incredibly naïve." – Joshua Plotkin, mathematical biologist at the University of Pennsylvania

 

"The more we know, the more we realize there is to know." – Jennifer Doudna, biochemist at UC Berkeley

 

Links to explore...

  1. http://www.nature.com/news/specials/humangenome/index.html
  2. http://www.nature.com/scientificamerican/journal/v303/n4/full/scientificamerican1010-60.html
  3. http://query.nytimes.com/gst/fullpage.html?res=9504E0DA1F3DF936A25755C0A9669D8B63&ref=human-genome-sciences-inc
  4. http://www.nytimes.com/2010/06/13/health/research/13genome.html?scp=5&sq=the%20genome%20at%2010&st=Search

Summary of class session (annie)

Riki began the session by briefly explaining what the human genome project is, and gave us background information. We then looked at two different quotations posted, one said by Francis Collins and the other by Bill Clinton. We discussed the fact that they both seemed to represent the huge hope held for the outcomes of the human genome project. People appear to have promised incredible medical revolutions in advance of the completion of the project. As Riki pointed out, none of the medical revolutions/outcomes have actually been realized, even seven years after the completion of the project. In an attempt to be more positive, Riki also presented two realized successes of the project: 3800 genomes of different organisms were sequenced, and we now have better sequencing technology as a result.

We then moved on to discuss the ethical implications of the human genome project. We all agreed that there are many. One particular issue we discussed was whether or not  it is ok to give someone germ line therapy if only they, and none of their descendants, have given consent? An argument for allowing germ line therapy was that it could potentially prevent a severe disability/painful life. On the other hand, the point was brought up: does this trivialize/minimize people currently living with disabilities?

We also talked about gene therapy vs. enhancement. We discussed the issue associated with people being able to essentially pick and choose components of their future child. Dakota brought up the point that all of these things are likely to be very expensive and therefore, access to such technologies would be limited to the wealthy.
We then discussed the issue of people having their genome sequenced, or parts of it sequenced for screening purposes. Some people leaned more towards the attitude of “why would you want to know ahead of time, especially if you can’t do anything about it?” while others feel that they would want to know, whether for just the sake of knowing, or potential preventative screening measures. 

 

Conversation and implications to date:

if the genome is known then people can start to bias against people based off of their genetic code (or something like that).  I think that there will always be negatives with knowing too much about the human species, like designer babies. (Designer babies would basically end what evolution humans had, or maybe it would cause evolution to go down a different path where everyone is basically the same) ... Kendra

If a person wants sight or the ability to move, who are we to deny them this? In my opinion, it should be up to the individual to decide whether they value their unique abilities more or less than the abilities offered through gene therapy. It should not be reflective on society's opinions of people with "disabilities", but should be an entirely personal decision ... Crystal

Some people find their genetic diseases to be so detrimental that they could not bear to risk inflicting it on another person, especially their offspring. Giving people the option of gene therapy could give these people the opportunity to have children of their own without fearing about passing on this particular disease. While the parent will be giving consent for an experimental, potentially risky procedure for without consulting their (future) child, I don't see how this is any different than other circumstances where parents must choose what is best for the child...Maybe to prevent people from taking advantage of gene therapy to create designer babies, there should be criteria and mandatory counseling that determine whether or not a person is eligible to utilize this type of therapy ... Dakota

different people would be able to cope with the same situation with varying degrees of success. I think those people who believe strongly that they are not in a position to deal with a certain outcome should have the option of making the outcome one they are better able to deal with. Again, the potential for abuse is there. Also, I do see how this might belittle the presence of people with said condition/illness who are already part of society...So where is the line between want vs need? and how should such an issue be regulated? ... Annie

[regarding genetic manipulation] my primary concern has to do with the tendency of contemporary humans to "normalize" and "optimize" in the short term, without paying adequate attention to the essential role the diversity plays in both genetic and cultural evolution ... Paul

I don't think [the Human Genome Project] was a failure- it told us the way we thought about disease and genetics was too simple...Like we've talked about in class scientists should question everything. In the same vein, scientists shouldn't make blanket statements before conducting a study ... Leah

While there are some diseases, such as Tay Sachs, that such gene line therapy would be perfectly suitable for, and it could be considered unethical if such therapies were not used, as that would guarantee the suffering of a child who inherited two copies of the mutated gene that causes this disease...While there are some diseases that, in my opinion, absolutely deserve to be treated with gene line therapy, if society is not careful we could end up with nothing but 5'10, 130 lb individuals with supermodel good looks, all because some doctor decided to treat an individuals height, weight, hair color, etc. with gene line therapy ... Sarah

 

  • If gene therapy becomes prevalent, there ought to be guidelines for what warrants gene therapy
  • While gene therapy may contribute to stigmatization of "disabilities", an individual should be able to decide whether or not they wish to receive the therapy
  • Biologists should consider how gene therapy will affect evolution over a longer period than a couple of generations

 

Comments

Colette's picture

 When initially learning

 When initially learning about the human genome project, it seemed that it would hold much promise for the future of those who are and would be at risk for carcinomas and deadly diseases. The implications as to funding this project was forthright in saying that it would be a key to move forward in science. I did not consider the ethical dilemma of creating designer babies. At first I found this to be problematic though when considering what it could do for the long term, it led me to reconsider.  Unfortunately society is cruel towards those who are born with certain disabilities and as a result, they are seen as burdens then actual people. Today, if one is such and there is no one to take care of them, then they automatically become wards of the state. Although it is not fair to create designer babies to fuel someone’s wants, I don’t believe in people having babies who will be treated cruelly and not really live a life at all.

 

smaley's picture

Gene line therapy is a slippery slope

 One of the issues that has resonated with me is that of gene line therapy, and whether it is ethical or not.  While the technology may not currently exist, there is no way of knowing how soon such a thing will be feasible.  While I do not believe that there are any problems with gene line therapy in order to cure a chronic, and potentially debilitating, genetic disorder, I think that caution must be taken when such therapy is used.  While there are some diseases, such as Tay Sachs, that such gene line therapy would be perfectly suitable for, and it could be considered unethical if such therapies were not used, as that would guarantee the suffering of a child who inherited two copies of the mutated gene that causes this disease.  However, I personally feel that there are many diseases that such therapy could lead to a very slippery slope.  Take for example dwarfism.  There are many different genes that cause different forms of dwarfism, each with different medical implications.  While a form of genetic dwarfism that causes debilitating medical problems could, and possibly should be treated with gene line therapy, does a more mild form that just causes short stature also deserve such treatment?  What about people who are just short?  While there are some diseases that, in my opinion, absolutely deserve to be treated with gene line therapy, if society is not careful we could end up with nothing but 5'10, 130 lb individuals with supermodel good looks, all because some doctor decided to treat an individuals height, weight, hair color, etc. with gene line therapy.    

lbonnell's picture

How the scientific method works...

 I think it is true that the Human Genome Project did not meet up to expectations. However, I don't think it was a failure- it told us the way we thought about disease and genetics was too simple. It also was a reminder of about how the scientific method works. We know from our most basic science educations that when you run an experiment you have a hypothesis, or educated guess. The problem was that before the experiment scientists were confident that they knew what the results would be and how the results would impact our lives. The scientists running the Human Genome Project should have been more cautious about their educated guesses. Like we've talked about in class scientists should question everything. In the same vein, scientists shouldn't make blanket statements before conducting a study. 

Paul Grobstein's picture

on genes and the Human Genome Project

It seems to me that there are two sets of somewhat distinguishable concerns on the table.  One is the broad set of issues having to do with the development of gene technology and genetic manipulation in general.  In this realm, my primary concern has to do with the tendency of contemporary humans to "normalize" and "optimize" in the short term, without paying adequate attention to the essential role the diversity plays in both genetic and cultural evolution.

The other, somewhat narrower set of issues has to do with the Human Genome Project in particular as a case study in science and public policy: how it was sold, what the resultants have been/are likely to be, how it impacts on the public perception of science.  I don't doubt the value of the HGP for basic biological research, but do think it, like the War on Cancer, was seriously and misleadingly oversold in terms of its short term promise for alleviating human suffering due to disease.  For more along these lines, see Genes, evolution, science education, and science.  My concern is not only that this will result in an increased skepticism about the value of "scientific" advice and "objectivity," but that it represents (another) missed opportunity to increase public science awareness of the complexity of biological systems and the inherent skepticism that science needs to represent for its own health.   

adowton's picture

 I know there has been, and

 I know there has been, and there will continue to be, controversy surrounding the human genome project. I accept the potential for discriminatory outcomes/bad use of the information. However, I can't help but feel, like Crystal, that it should really be up to an individual to decide whether or not gene therapy is for them. I say this because, I personally would at least want the option to have gene therapy if  it meant an easier life for my future child, and probably for me as well (especially for the more extreme examples I mentioned in class). I also accept however, that some people think that the option shouldn't exist.

I think where it gets murky is the incredibly subjective nature of what conditions or "illnesses" should warrant gene therapy of germ lines. Obviously, as we discussed in class, different people would be able to cope with the same situation with varying degrees of success. I think those people who believe strongly that they are not in a position to deal with a certain outcome should have the option of making the outcome one they are better able to deal with. Again, the potential for abuse is there. Also, I do see how this might belittle the presence of people with said condition/illness who are already part of society. Kendra mentioned the idea of a designer baby, and I certainly think that there are many many people who this would appeal to. So where is the line between want vs need? and how should such an issue be regulated?

Crystal Leonard's picture

gene therapy devaluing those with disabilities

I'd like to comment on the idea that gene therapy might imply that those who are disabled are of less value than others. I agree that if, for example, a blind person were to get gene therapy to let them see or a quadriplegic person got gene therapy to allow them to move their limbs, it does imply that, at least to that individual, there is something inherently wrong with being blind or paralyzed and that these traits need to "fixed". This might be offensive to some and might ignore the unique abilities of people with these traits. However, I still see nothing wrong with these individuals getting the gene therapy. If a person wants sight or the ability to move, who are we to deny them this? In my opinion, it should be up to the individual to decide whether they value their unique abilities more or less than the abilities offered through gene therapy. It should not be reflective on society's opinions of people with "disabilities", but should be an entirely personal decision.

dfishervan's picture

Gene therapy as a parental choice

Although there are many sides to this debate, I do see merit in Crystal's argument. The decision for gene therapy should be a personal one. We have to remember that certain people allow their genetics to dictate whether or not they decide to have biological children. Some people find their genetic diseases to be so detrimental that they could not bear to risk inflicting it on another person, especially their offspring. Giving people the option of gene therapy could give these people the opportunity to have children of their own without fearing about passing on this particular disease. While the parent will be giving consent for an experimental, potentially risky procedure for without consulting their (future) child, I don't see how this is any different than other circumstances where parents must choose what is best for the child. We allow parents to use their discretion to determine whether or not to sign off on experimental surgeries and treatments to fix certain medical issues once the child is born. In a sense, a person with a genetic disease who opts for gene therapy is just doing what he/she thinks is best for their child. Maybe to prevent people from taking advantage of gene therapy to create designer babies, there should be criteria and mandatory counseling that determine whether or not a person is eligible to utilize this type of therapy.

knorrell's picture

The Human Genome

This topic reminded me of my summer internship at a science museum.  They had an interactive computer that focused on controversial issues and the human genome was one of them.  I think that it took it to an extreme that if the genome is known then people can start to bias against people based off of their genetic code (or something like that).  I think that there will always be negatives with knowing too much about the human species, like designer babies. (Designer babies would basically end what evolution humans had, or maybe it would cause evolution to go down a different path where everyone is basically the same). 

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