Anyone had genetic testing done?

Energize

Energize

Energize

Caporegime
Joined
12 Mar 2004
Posts
29,960
Location
England
I'm not considering kids right at this moment, but would like to have genetic testing done to prevent potentially bringing a child into this world with some terrible disease in the future. £1,000 is a small price to pay compared to the £100,000+ cost of raising a child over 18 years that I feel it would be unethical not to have such testing done in this day and age.

Things I would want to test for are things like:
Cystic Fibrosis,
Huntington's,
Creutzfeldt–Jakob disease,
Fatal Insomnia,
Early onset Alzheimers etc.

I was just wondering if anyone had had this testing done before and how long it took and how much it cost them? Thanks.
 
I had free testing on the NHS back in 1993. Was ruled out by geneticist due to dominant defective genes. It sucks because I have 2 healthy parents and my disabilities as 1st child were due to a spontaneous mutation. My sister as the 2nd child is healthy so will be up to her to continue the family tree.
 
I had some DNA samples done recently related to Crohn's disease. They're doing a genetic study, so I was happy to volunteer my DNA. They also asked if you wanted to know if your DNA showed any genetic markers of anything like you've put in the OP. I ticked yes because I'd rather face anything head on, but she made the point (repeatedly to everyone giving their DNA) that if you knew you had any of these things, how would it change your behavior? I didn't have an answer at the time, but this makes a lot of sense. Not that I'll be tested when I have children anyway...
 
Pawnless Endgame said:
I had free testing on the NHS back in 1993. Was ruled out by geneticist due to dominant defective genes. It sucks because I have 2 healthy parents and my disabilities as 1st child were due to a spontaneous mutation. My sister as the 2nd child is healthy so will be up to her to continue the family tree.
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Sorry to hear that, it's a great example of how beneficial genetic testing can be in creating a disease free future generation though.

Prevention is always better than a cure. To think we spend billions on trying to find cures for cystic fibrosis and Huntingtons when a genetic test costing a few hundred quid each would prevent anyone ever being born with the disease again, the economics don't seem to make sense to me.
 
Energize said:
Sorry to hear that, it's a great example of how beneficial genetic testing can be in creating a disease free future generation though.

Prevention is always better than a cure. To think we spend billions on trying to find cures for cystic fibrosis and Huntingtons when a genetic test costing a few hundred quid each would prevent anyone ever being born with the disease again, the economics don't seem to make sense to me.
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Yes but as is evident from his case, mutations occur. They have to, or we’d all be the same.
 
Mason- said:
Yes but as is evident from his case, mutations occur. They have to, or we’d all be the same.
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It's true that de novo genetic mutations occur, but cystic fibrosis for example is a recessive disease, a double spontaneous CF mutation occurring is unheard of. Huntington's while being dominant is based on the number of repeats present, while anticipation does occur you don't see someone going from say 20 repeats to 50 in a single generation, people with a high number of repeats can potentially expand into the penetrant range in the next generation, in this case IVF can be used to select a normal embryo.

CF and Huntington's are basically 100% preventable and we aren't using genetic testing to its full potential resulting in much suffering and huge economic costs.

dirtychinchilla said:
I had some DNA samples done recently related to Crohn's disease. They're doing a genetic study, so I was happy to volunteer my DNA. They also asked if you wanted to know if your DNA showed any genetic markers of anything like you've put in the OP. I ticked yes because I'd rather face anything head on, but she made the point (repeatedly to everyone giving their DNA) that if you knew you had any of these things, how would it change your behavior? I didn't have an answer at the time, but this makes a lot of sense. Not that I'll be tested when I have children anyway...
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Well if for example I knew I was going to die of CJD I wouldn't be putting money in a pension fund and would be spending my money in the here and now to enjoy myself more. But yes it does depend on an individuals psychology, if you're not going to have children then you may not want to know as it can cause a lot of anxiety.
 
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Yeah found out my partner has 59 repeats of the faulty Huntington's gene after the birth of our daughter. She was told incorrect information that she could not get HD even though her father and grand father had it.

Right now I spend everyday trying to keep her safe and happy, but allow her to have the freedom to do what other adults can whilst she still can as her symptoms have really started showing themselves now.

Not sure if our daughter will have it because she can't be tested till she's an adult.
 
The main ethical question and counter-argument is whether we should be denying those with these mutations the chance of having any kind of life at all. It's genuinely difficult, as it depends on how "clean" your genes would have to be to allow you to be born. What about people with the BRCA gene and familial adenomatous polyposis (FAP)? Almost guaranteed to get cancer with these faulty genes, but not a certainty. These are treatable conditions, but why bother to treat them if we could prevent people being born with them in the first place? How do you decide which conditions should and shouldn't be included in your list?

There is increasing evidence that epigenetics and the microbiome play a large role in these diseases, so a single point genetic test in utero won't give the full picture and certainly can't give an accurate prognosis.

What happens with health insurance if you're tested in utero for a condition? You have a pre-existing health issue from day one (even before it's a problem) and you might not be able to get health insurance at all. We're going to run into stormy seas very shortly with this as the cost of genetic sequencing continues to drop (<$1000 for a whole human genome).
 
tom_nieto said:
The main ethical question and counter-argument is whether we should be denying those with these mutations the chance of having any kind of life at all. It's genuinely difficult, as it depends on how "clean" your genes would have to be to allow you to be born. What about people with the BRCA gene and familial adenomatous polyposis (FAP)? Almost guaranteed to get cancer with these faulty genes, but not a certainty. These are treatable conditions, but why bother to treat them if we could prevent people being born with them in the first place? How do you decide which conditions should and shouldn't be included in your list?

There is increasing evidence that epigenetics and the microbiome play a large role in these diseases, so a single point genetic test in utero won't give the full picture and certainly can't give an accurate prognosis.

What happens with health insurance if you're tested in utero for a condition? You have a pre-existing health issue from day one (even before it's a problem) and you might not be able to get health insurance at all. We're going to run into stormy seas very shortly with this as the cost of genetic sequencing continues to drop (<$1000 for a whole human genome).
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Well that's straying into different territory somewhat, there's a difference between using genetic screening and IVF to prevent a diseased mutant being conceived in the first place and in-utero testing after the fact and choosing to have an abortion. I think abortion should be allowed for any reason as it currently is in the UK. If you think abortion should require a compelling reason, I would say that the genes that make it onto the list in that case would be the ones with a very high probability of causing terrible suffering compared to a non-mutant, I think that it's pretty cut and dry that genotypes which confer a 100% chance of dying in the most horrific way imaginable like Fatal Insomnia/CJD and Huntington's should be justification for abortion.

I don't really understand what you're getting at regarding BRAC and cancer. Cancer is a non-preventable disease in non-mutants so of course you would continue funding the development of new treatments for it. Huntington's however is entirely preventable, so given the choice between being able to put x amount of money towards the vanishingly small chance of finding a cure in the next 50 years, or putting it towards the 100% guarantee of no one ever being conceived with the disease ever again it's crazy to do the latter. It's like trying to find a cure for polio instead of funding the vaccine efforts to eradicate it.

With regards to health insurance it seems moot, an insurance company could ask anyone for a genetic test before giving them insurance in the absence of laws to the contrary.
 
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