Pros and cons of the Human Genome Project

[hydrogène]

i'm now preparing a presentation on the human genome project and get stuck when reaching the part of pros and cons. I've searched on the web for hours and still can't find some useful points for the cons section. frustrated. can you guys help me in this cons section?? luv ya~

 

[misskitty]

The human genome project is a politically contraversial subject matter. I don't know very much about the human genome project. I'm not sure if there is anyone here who knows much about it either. Although I would suspect many people do know about it.

I believe the human genome project isn't a horrible thing. However, as I said I don't know much about it.

If you or soemone else who is knowledgeable on the topic could give me a BRIEF synopsis of the project, I would be more than happy to give you my thoughts/opinion of it.

Keep plugging away at it! If you get really frustrated, you might want to start a poll: who is for/against the genome project and why.

 

[Monique]

A con is that insurance companies could hold your genome against you: when you have a genetic predisposition to develop alzheimer disease or cardiovascular disease you might have to pay a higher premium or you wouldn't even be accepted for an insurance plan. Governments are protecting their citizens from such situations by the privacy act.

 

[misskitty]

A con is that insurance companies could hold your genome against you: when you have a genetic predisposition to develop alzheimer disease or cardiovascular disease you might have to pay a higher premium or you wouldn't even be accepted for an insurance plan. Governments are protecting their citizens from such situations by the privacy act.

That's outrageous!

It's not your fault that you have some genetic disorder that makes you more susceptable to have Alzheimers or a heart condition or any other disease along such lines. I'm pretty sure if people could pick and choose their genetic make up they would steer clear of the genes that make you susceptable to horrible illnesses like that! I agree that would definitely be a con of the genome project.

My mom used to be a life insurence broker. She has also worked for Aflack as well as GE Long Term Care Life Insurence Protection. (She was good at it too ). Thats besides my point, but can companies really decline you for that reason?! Thats crap. How can they legally cite the genome project as the reason for rejection?

Monique, do you have a link to the privacy act? I'd like to skim it to get an idea of what it is. Thanks.

 

[selfAdjoint]

It's not your fault that you have some genetic disorder that makes you more susceptable to have Alzheimers or a heart condition or any other disease along such lines.

But insurance companies would go bankrupt if they put being "fair", according to their insured's lights, above being profitable. In the US you have no right to insurance and must take your chances in the markeplace. That's not what I prefer either, but that's what the voters have been sold.

 

[misskitty]

Unfortunately, as much as I don't want to admit it, you're right. Insurence companies are horrible and good at the same time. They would go out of business if they were fair. On the same hand though, won't they lose money by not isuring a person because their genes make them prone to certain ailments? What is a person has such a gene that makes them prone to diseases, and then they never develop any problems? Then what. Sounds like a lose-lose situation to me.

 

[DocToxyn]

a lot of the potential problems with the information gained from the Human Genome Project and how it impacts our lives has to do with what information is known and who has access to it. It may eventually become commonplace for you and/or your doctor to call up your genetic info and examine it for potential risks of disease, efficacy of drugs, preventative medicine, etc. Where it becomes harmful is when that information is used against you, such as in the denial of insurance because you happen to carry some identified factor for cancer A,B,C or neurological disease X,Y,Z. Programs like HIPAA, Health Information Portability and Accountability Act, are trying to contain such information and educate the patient about their rights. It remains to be seen whether these provisions can combat potential abuse of genetic info.

Here's another potential con, albeit along similar lines as the insurance company scenario, just taken a step further (excuse me while I adjust my tin-foil hat).

Your complete genetic information is documented and used to "benefit your health". Suppose that information is gathered by government agencies for "beneficial epidemiological purposes" . The government now has everything it needs to dictate policy that will better humankind through the use of genetic power. Selective breeding is instituted to improve our physical condition, while also eliminating disease. What once may have been a benefit to society has now become a tool for oppression.

I realize this is rather far-fetched and a little sci-fi, but at one time there was a movement in the US called eugenics, which sought to improve our lives through ideas and programs not unlike those mentioned above. And while it may not be as blatant as the situation I put forth, perhaps its only "designer babies" for the rich, we must be aware that even the smallest application of such power to limit our rights may be too much.

 

[misskitty]

Wouldn't that selective breeding to elminate physical diseases and improve our physical condition be similar to creating an aryan race? I don't mean blond hair, blue eyes, fair skin, etc. I mean like a perfect race that has not disease or physical imperfection.

Nothing is perfect, so eliminating disease and inferior physical condition would be improbable. It sounds great on paper, but I don't think it would work if you tried it. Its seriously messing with genetics.

 

[Monique]

Monique, do you have a link to the privacy act? I'd like to skim it to get an idea of what it is. Thanks.

If you are in the US, you probably already have dealt with it. It is called HIPAA: Health Insurance Portability and Accountability Act http://www.hhs.gov/ocr/hipaa/ http://www.hhs.gov/ocr/hipaa/consumer_summary.pdf You probably have signed a form while at the doctor or pharmacy.

I was in the US doing research when the regulation was put into action. The regulation basically restricts who can access medical information of a patient and how one deals with such sensitive information. Before, we could use patient names in a research lab and do our experiments. Now, all patient information should be locked and identifiers should be completely anonymous.

I see here in the Netherlands there is no such strict regulation yet: patient names are discussed openly in meetings, patient names are lying on lab benches. If I were to run a lab I would remove all patient indentifiers.

 

[misskitty]

Wow, I had no idea how different the system was in the Netherlands. Why aren't there any protections for patient privacy? It seems a bit acinine to me. I certainly would not want some random person knowing my personal health information. Openly discussed meetings are a bit much too.

Thanks for the link...unfortunately my tempermetal computer won't let me acess the link . I think I get the general idea of what it is though. I am is the states. I do remember signing paper work like that.

So how does HIPAA supposedly trying to protect the human genome information of patients? How exactly does an insurence company get your genome anyway: do they petition for your medical records?

 

[DocToxyn]

So how does HIPAA supposedly trying to protect the human genome information of patients? How exactly does an insurence company get your genome anyway: do they petition for your medical records?

Much of the issues regarding human genetic information are now in discussion and theory, but not in practice. It will most likely be quite some time before I have my entire genetic profile available as part of my medical records. These potential situations in this thread should be considered and rectified now before that information does become available. As far as HIPAA is concerned, I would imagine genetic info would be classified like any other personal health information and it's dissemination would be strictly controlled. I'm not familiar with what access insurance companies currently have to your personal health records...anyone?

 

[misskitty]

I think the only way they can gain acess to your records is by requesting your permission and that of your PCP.

Its good that things are being talked about now. Better do get things set up before you have to deal with it.

What are some other pros to the genome project? We have some information on the cons, how about the pros, other than knowing what diseases you might get when you age.

 

[Monique]

Wow, I had no idea how different the system was in the Netherlands. Why aren't there any protections for patient privacy? It seems a bit acinine to me. I certainly would not want some random person knowing my personal health information. Openly discussed meetings are a bit much too.

There are some protections of privacy, but they are not very strict in my experience. The situation was not much different in the US a few years ago (before April 14 2003), where I as a researcher had access to name, date of birth and social security number together with pedigree information. Since I do not have to know all that information all the time, it has to be encoded and locked up in a drawer.

So how does HIPAA supposedly trying to protect the human genome information of patients? How exactly does an insurence company get your genome anyway: do they petition for your medical records?

It is a first step, it restricts the flow of information.

from: http://www.hhs.gov/news/facts/privacy.html

Limits on Use of Personal Medical Information.
The privacy rule sets limits on how health plans and covered providers may use individually identifiable health information. To promote the best quality care for patients, the rule does not restrict the ability of doctors, nurses and other providers to share information needed to treat their patients. In other situations, though, personal health information generally may not be used for purposes not related to health care, and covered entities may use or share only the minimum amount of protected information needed for a particular purpose. In addition, patients would have to sign a specific authorization before a covered entity could release their medical information to a life insurer, a bank, a marketing firm or another outside business for purposes not related to their health care.

Ofcourse medical information was protected before the new regulations in 2003, the main difference now is that privacy training is required for employees, the patient is completely informed of the privacy situation, regulations are better defined and strict.

 

[misskitty]

Ah well that makes sense. Sorry, my cat is trying to lay down on my shoulder. ANyway, any idea on when these laws might start going into effect?

 

[Moonbear]

There is a more immediate "con" to the genome project, which really isn't a "con" in the bigger, more long-term picture. That is that right now, sequencing the genome tells us nothing about the function of the genes. That's the next phase, starting to take the sequence information, find out what the actual genes are and what they do. This is a much bigger task than just extracting sequence information. So, in that regard, the con is that knowing gene sequences isn't terribly useful without knowing what the gene does.

 

[misskitty]

That's true. I'd be curious to see who gets the Nobel Prize for discovering gene function. I thought your genes were what made up your features and such. All while you are in the womb. But that was chromosomes that have genes in them. I had also thought that genes where what told the chromosomes to form. Again I'm pretty sure I'm wrong there too. Its all so confuzzling, like the kitten in Moonbear's avitar!

 

[selfAdjoint]

There is a more immediate "con" to the genome project, which really isn't a "con" in the bigger, more long-term picture. That is that right now, sequencing the genome tells us nothing about the function of the genes. That's the next phase, starting to take the sequence information, find out what the actual genes are and what they do. This is a much bigger task than just extracting sequence information. So, in that regard, the con is that knowing gene sequences isn't terribly useful without knowing what the gene does.

Perfectly true, but the proponents of the genome project were up front about that. Their point was that you can't really rationally find out about gene function until you find out what genes there are, because "jumping genes" and distant gene interactions were already known processes. You see that they continue to sequence the genomes of various lab creatures and plants, as a preparation for studying gene function (and , importantly, control and timing).

 

[Monique]

It is much easier to do comparative genomics when knowing the genomic sequence. With the genomes available it is possible to look for conserved regions, so I think the sequencing plays a very crucial role. It also makes it easier to look for markers that can be used for linkage and linkage disequilibrium studies.

 

[misskitty]

How would you go about sequencing the genomes?

 

[so-crates]

My question is, what exactly does it mean to map the entire "human" genome? I can understand mapping the genome of one person(sequencing the DNA in every single one of their chromosomes), but when it comes to an entire species, everyone's genome is different. Is it just identifying which sections of a person's DNA encode for proteins?

As Moonbear suggested, this seems like its just the tip of the iceberg, and the relatively easy part. The difference between Adam and Bob is probably not that Adam can produce proteins that Bob can't(and vice-versa), but that Adam produces protein production is regulated in a different manner.stimuli.

 

[Monique]

Our genomes are not that different: 99.9% of our genome is identical. I agree that we still have to lot about epigenetics, which cannot be read from the genome. That is why projects are underway such as making a proteome interaction map and doing large scale microarray experiments.

 

[misskitty]

If they are 99.9% the same, what's the other .1% of the gene?

 

[Monique]

Only 1.5% of the human genome is coding and genes are conserved so besides some allelic variation and some mutations you would not expect much difference. More variation can occur in parts that are non-coding or don't have a clear function. Here is a breakdown of some genetic elements:

At the time these numbers were calculated, eight percent was not sequenced, approximately 53% codes for repeats such as LINEs (21%), SINEs (15%), retro-viral-like elements (8%), DNA-only transposons ‘fossils’ (3%), segmental duplications (3%) and simple sequence repeats (5%). The remaining 39% of the genome is unique. Part codes for introns (24%) and exons (1,5%), the function of 13% is not yet known (regulatory?) (Baltimore 2001).

Forensic experts identify individuals based on simple sequence repeats, which have no function (as far we know).

 

[misskitty]

And it can only get more complicated from here.

 

[so-crates]

Our genomes are not that different: 99.9% of our genome is identical. I agree that we still have to lot about epigenetics, which cannot be read from the genome. That is why projects are underway such as making a proteome interaction map and doing large scale microarray experiments.

If someone's genome is 99.9% identical to someone elses, how is DNA fingerprinting so error-proof? As I understand it, they do not look at the entire genome only a small section (100s of base pairs). Wouldn't it then be much more likely that a 'match' could be a coincidence?

 

[misskitty]

I would think it wouldn't be. Your DNA is completely different from my DNA. It has to do with the configuration of the different (I think) peptides. Everyone is different than everyone else. I would suspect that the DNA portion of the genome is what they look at not the entire thing.

 

[Monique]

The size of the genome is 3 billion base pairs, so actually 0.1% is still a considerable amount of variation. DNA fingerprinting is done by looking at several highly polymorphic markers, the chance that two individuals have the exact same pattern is unlikely (over 99% confidence on tests).

 

[Monique]

I would suspect that the DNA portion of the genome is what they look at not the entire thing.

A genome is the genetic information in an organism, which is DNA (present as chromosomes).

 

[misskitty]

K, good to know when you're wrong and you get the right answer. I'd say .1% is big. I didn't know how big the genome really is. Well, I don't know if "big" would be the righ decriptor since the genome is microscopic...

better stop now before I fry some brain cells, I need the one's I've got.

 

[so-crates]

Hmm, well looking at it from a computer science/mathematical background, I would calculate the probability P of a "false positive" like this:

Two strings X and Y of length L are identical for all but N places. What is the probability that for a sequence of length S, starting at a random position r along the length of the strand, that the substring X[r... r+S] is identical to the substring Y[r ... r+S]. In other words P is a function of L, N, and S, P(L, N, S) The percentage similarity would be (L-S)/L. Thats would be pretty hefty calculation to work through - calculating every single combination of the positions of difference. For instance the probability is much greater if all the differnces are "packed " in one location at the begging of the string. Then there are a lot more ways to get a match than (the first S substrings would be different, but the rest of the L-S substrings would produce a match. If the differences are distributed evenly, the probability is at a minimum, and could even be zero if S is large enough(though not for DNA). For example if L was 10, N was 1, and S was 5, placing the difference at position 5 would mean that NO substring of length 5 could ever match, but if you put it at position 1, then then you have 4 different possible substrings that are matches {2..7, 3..8, 4..9, 5...10 }

Of course, all this rests on certain assumptions, that the distrubution of differences for the two strands is random, that you start making comparisons in a random place, and that all comparisons are 100% accurate. I know that comparisons aren't 100% accurate(there are errors in transcription), as it would be impoosible to get a "false negative" (although it very nearly is). I also suspect that the distribution of difference is not completely random as well, certain mutations would be lethal and don't occur. And I believe there are "markers" used in finger printing so sequencing does not take place at random position along the the string. And of course, human DNA is not one long continuous strand but is broken up into 23? chromosones.