Genetic screening - any experiences

charliewocka

Note to Mods - I originally posted this in the 'Health & Beauty Moneysaving' topic but think it is better asked here. Please feel free to remove other thread.


I have a cousin whose son has Duchenne Muscular Dystrophy (a fatal condition generally passed onto boys through the mother due to genetic fault). It seems that another one of my cousins sons is showing possible traits of the condition.


I'm 32, female, and in a serious relationship. We've spoken of a future together, having a family, have recently bought a house. Because of the possible DMD genetic carrier status I would not have a child unless I knew for sure that it would be healthy (PLEASE do not get started on the morals of this - this is my wish, and my partners, having spoken at great deals about it). However, I am scared. I've done the research into the condition, the genetics and the importance of being tested myself. However, my fears are that if I am tested and found to be a carrier of the gene, the associated issues of having help to fall pregnant (selective IVF for medical reasons). Also, if I am positive, the feeling of being 'faulty' and inadequate. I also worry that if I get a 'negative' test, that it won't be 100% certain and that I could still potentially have a child that would have the condition.


Has anybody undergone genetic screening before, and what have their experiences been? I understand that there will be a lot of counselling involved before and after testing, but I just don't know what is involved......


Thanks in advance....

kitrat

charliewocka wrote: »

Note to Mods - I originally posted this in the 'Health & Beauty Moneysaving' topic but think it is better asked here. Please feel free to remove other thread.


I have a cousin whose son has Duchenne Muscular Dystrophy (a fatal condition generally passed onto boys through the mother due to genetic fault). It seems that another one of my cousins sons is showing possible traits of the condition.


I'm 32, female, and in a serious relationship. We've spoken of a future together, having a family, have recently bought a house. Because of the possible DMD genetic carrier status I would not have a child unless I knew for sure that it would be healthy (PLEASE do not get started on the morals of this - this is my wish, and my partners, having spoken at great deals about it). However, I am scared. I've done the research into the condition, the genetics and the importance of being tested myself. However, my fears are that if I am tested and found to be a carrier of the gene, the associated issues of having help to fall pregnant (selective IVF for medical reasons). Also, if I am positive, the feeling of being 'faulty' and inadequate. I also worry that if I get a 'negative' test, that it won't be 100% certain and that I could still potentially have a child that would have the condition.


Has anybody undergone genetic screening before, and what have their experiences been? I understand that there will be a lot of counselling involved before and after testing, but I just don't know what is involved......


Thanks in advance....

Didn't want to read and run. I haven't had genetic counseling myself but from what I understand they will discuss and explain everything about the condition and the implications of results should you undertake testing so that you can make a fully informed decision about if you want to go through with testing and any other concerns including all those you have above. Also I wouldn't worry about them getting the wrong result, it will involve taking a sample (I'm not sure if blood or cheek swab) and they will do a detailed look at the gene that is faulty in the disease and they know what they're looking for. You have one copy of that gene from your mum and one from your dad so they don't have far to look for the information so they are highly unlikely to miss anything.
It sounds a tough time for you, wishing you all the best.

charliewocka

Thanks Kitrat. As this is a maternal link I would only need to find out if my mother carried it (and my birth father is deceased anyway) but I don't feel that she needs to be tested.


A little more complicated is that I don't speak to my cousin or her family (very dysfunctional family we have! ) and previously when I have approached them to find out which gene the fault is on they have gotten angry and said it was confidential and I had no right to know - I don't have children so it doesn't affect me. As this could be one of thousands, unless I know the exact location of where the fault is, it can make it very difficult to locate and test, and put me at greater risk of the 'maybe but maybe not'. It might even be that legal action (solicitors letter) be required but I don't know.


Would love to consider having children at the moment but want to address this issue first!

kitrat

charliewocka wrote: »

Thanks Kitrat. As this is a maternal link I would only need to find out if my mother carried it (and my birth father is deceased anyway) but I don't feel that she needs to be tested.


A little more complicated is that I don't speak to my cousin or her family (very dysfunctional family we have! ) and previously when I have approached them to find out which gene the fault is on they have gotten angry and said it was confidential and I had no right to know - I don't have children so it doesn't affect me. As this could be one of thousands, unless I know the exact location of where the fault is, it can make it very difficult to locate and test, and put me at greater risk of the 'maybe but maybe not'. It might even be that legal action (solicitors letter) be required but I don't know.


Would love to consider having children at the moment but want to address this issue first!

They sound very unhelpful its really quite selfish of them but I suppose they are having a tough time and are maybe acting irrationally? Really not very nice for you though.

A medical genetics lab will be familiar with the usual errors in the affected gene so I'm sure they have a batch of tests they can do if they don't have any starting information. Please don't worry. I'm sure they will talk you through it all and put your mind at rest.

Just one extra comment - it is one partciular gene affected, called 'dystrophin' so they know whiceh gene theyre looking at and they will look at it in depth to see if it has any errors in. (I did a little on it at university so I understand it to a shallow depth)

charliewocka

Thanks. I don't think they are acting irrationally - this has been known for over 8 years now but I really do have a family that are horrid (and I'm not saying that lightly!) not just about this but a number of other family issues. Will be booking a GP appointment soon to start the process.....

Yorkie1

Although a different sort of genetic testing, BRCA4 is I think the breast cancer gene. I wouldn't be surprised if this is very similar in process / counselling to what you describe, and might be worth looking into online for examples on forums of peoples' experiences?

kitrat

charliewocka wrote: »

Thanks. I don't think they are acting irrationally - this has been known for over 8 years now but I really do have a family that are horrid (and I'm not saying that lightly!) not just about this but a number of other family issues. Will be booking a GP appointment soon to start the process.....

I added a bit onto that last post for you. I hope it all works out for you, I'm sure it will and they will put your mind at rest and you can forget about those delightful people

theoretica

I wonder if this is a situation where it is considered ethically acceptable to select embryos to be female. Your daughters may be carriers, but as I understand it are much less likely to have Duchenne MD. This might in some ways be pushing the issue on by a generation, but with the speed of progress in genetic scanning it might also become much less of a problem in 20 years or so.

kitrat

theoretica wrote: »

I wonder if this is a situation where it is considered ethically acceptable to select embryos to be female. Your daughters may be carriers, but as I understand it are much less likely to have Duchenne MD. This might in some ways be pushing the issue on by a generation, but with the speed of progress in genetic scanning it might also become much less of a problem in 20 years or so.

There is certainly a type of ivf available to people who carry the gene, they will screen the emrbyos and find out which one have the healthy gene and which one has the affected gene and they will only implant the healthy embryos so that is an option should it come to that. There is an NHS page about the condition with information about this process on it if its helpful.

charliewocka

theoretica wrote: »

I wonder if this is a situation where it is considered ethically acceptable to select embryos to be female. Your daughters may be carriers, but as I understand it are much less likely to have Duchenne MD. This might in some ways be pushing the issue on by a generation, but with the speed of progress in genetic scanning it might also become much less of a problem in 20 years or so.

I believe that we can choose to only have healthy embryos inserted. Once we know where the gene is (if I am a carrier) we can have embryos tested and only those without the fault (male OR female) can be kept. This helps to ensure the blood line of carrying the gene stops.


That's my understanding anyways. I think at the moment the negatives make more of a stand - worse case scenario playing out in my head. Will try to get some decent sleep (lots been going on in life at the moment) and be a bit more rational.

oystercatcher

We had genetic counselling and testing about 10 years ago for the condition SMA (Spinal Muscular Atrophy) The counselling was quite involved and I think we could have had more . They were keen to point out they were only testing for the one condition so any other random condition could still occur.

We both had blood taken and the results took a few weeks. They said there is a huge data base for all the genetic conditions and any of my blood relatives could refer themselves to be tested should they wish. So it is possible if you give them your relatives name if they are on the data base the genetic information may be there for those who need it anyway.

Things have probably moved on a lot now and could be quicker and more detailed.