Genetic screening - yourself and/or your children

[MaidOfStars]

Hi all, I hope I'm not breaking guidelines by posting this, am sure I will be told soon enough....I am a regular but not to this board. If anyone recognises my username and is willing to vouch/wave, that would be great.

I'm lecture planning (medical UGs) and need to put together some slides on the 'harms' of genetic testing. I am looking for some personal experiences that might guide me (and provide [anonymised] quotes). Obviously, there are known published 'harms' but I'm trying to get a more direct emotional picture.

So, if anyone is willing to share, I'm particularly interested in how:

1. being screened for a genetic disease
2. being screened for carrier status for a genetic disease (e.g. thalassemias, CF) before you have children
3. having your children tested for a genetic disease
4. undergoing PIGD

...has impacted your mental health/anxiety, has affected newly 'at risk' family members, any societal issues that emerged (feeling 'labelled', direct discrimination), health insurance issues?

I appreciate that these are intrusive questions but I'd be grateful if anyone is willing to share.

Thanks in advance, MaidOfStars.

It may be wise for me to provide evidence that I am not a journalist. I am a Research Fellow in Pediatrics at an RG university.

Here are some links to other threads I've been on, where I mention my work:
www.mumsnet.com/Talk/am_i_being_unreasonable/2345814-AIBU-to-be-upset-with-DH-regarding-genetic-mutation

www.mumsnet.com/Talk/am_i_being_unreasonable/2382899-Do-you-think-this-couple-is-unreasonable

www.mumsnet.com/Talk/_chat/2426164-Utterly-sick-of-selfish-family-members

www.mumsnet.com/Talk/am_i_being_unreasonable/2430537-To-ask-your-salary-profession-location-and-years-of-experience

I appreciate that this is not conclusive but I hope it's enough to reassure anyone.

Our daughter was diagnosed with trisomy 18 in pregnancy. There is a lot of debate in the trisomy community as to whether parents should opt for amnio or cvs to
confirm trisomy as a confirmed diagnosis often leads to denial of treatment which has been shown to extend life.
We experienced exactly this but following a clinical ethics committee presentation, mp involvement and seeking second opinions, we were offered full treatment including ventilation at birth. Our daughter arrived 18 days ago and is doing well with appropriate neonatal care including initial ventilation. We hope to take her home next week. I don't know if this is the kind of thing you are interested in but if so am happy to share our experiences of denial of treatment and discrimination due to an adverse prenatal diagnosis

I recognize the username! So glad this is being discussed. My family are jewish, a mix of sephardic vs ashkenazi. When I had my first child they drew a family tree to ascertain who was from where and what diseases elders had died from. I have had the harmony test for my first two. I had it for my third (currently pregnant) but there was a mix up and I didn't get any results. Given my regular blood test showed a low risk of issues I waived it being re performed.

From an anxiety viewpoint I was never nervous or anxious. I get the results before 14 weeks so much easier to do a termination if the tests showed there was a problem. I am in the US and there has been zero issue with health insurance.

There are diseases running through the jewish side of my family and the harmony test put my mind at ease. Thalassemia gallops in my family and my sister has it. They didn't know until she was born. For me, I would much prefer to know before birth so I can make an informed decision on the best care.

Also the genetic counsellor was very upfront that all care options are available. It was made clear that if the result were adverse it was about what we wanted for our DC. Note I delivered at a catholic hospital. I don't know if it's the same elsewhere.

TheDisillusionedAnarchist Thanks for sharing and I wish your daughter well

It seems as if the testing process you went through was a double-edged sword. Such testing is promoted (for want of a better word) in the name of preparedness and parental choice in continuing with the pregnancy. Do you feel that the use of the results to justify a denial of care was subverting the value of testing? Were the care decisions that would be made based on the result made clear to you as part of the consent process?

Want2Be Thanks for the vote of confidence!

An interesting juxtaposition between your US experience and Disillusioned's (presumably) UK experience. Historically, part of my lecture has dealt with the differences in genetic testing in the UK and the US, under two very different systems of health care.

Were you screened for your cystic fibrosis carrier status before conceiving (as recommended by ACOG)? Or had you and/or Dad been previously tested under other circumstances?

A large part of my lecture focuses on Tay-Sachs, which I'm sure your familiar with. An absolute success story in terms of population screening within the Askenazi Jewush diaspora.

Your/you're, oops.

I wasn't screened for cystic fibrosis before conceiving because I was never trying. Once I was pregnant they did the harmony test and my first two were not carriers so no further testing was performed.

My sons results came back with markers for autism and had a speech delay. This came out when we saw his developmental paediatrician last week and said he should have been seen by their team at 12 months.

I thought that aspect of it was awesome and in general american healthcare is very focused on prevention.

I may be too late for this thread but .... Our unborn daughter has trisomy 13. We had this confirmed by amnio but weren't pushed to do so. It was our choice and we needed to know for our own mental health. I'm glad we did. However, the diagnosis has most definitely closed doors for us in terms of treatment and this wasn't made at all clear to us prior to testing. We would still make the same choice again but I can see why people choose not to know

Hello Hopefully, thanks for sharing. I am hoping for the best possible outcome for your daughter

You say that you had the diagnosis confirmed for both yours and Dad's mental health. Are you able to tell me what you mean by that? Was it time to prepare, to digest, to research, to 'know'?

This is a tough question but, given the spectrum of problems associated with trisomy 13, do you think the discarding of a reasonable care plan is based on the specific prognosis for your daughter (have you had any reasonable info about how affected she is?) or based on a 'trisomy 13 = no intervention, no questions'?

I appreciate that this is distressing, sensitive and perhaps not something you want to discuss, so please don't feel obliged to answer. My thoughts are with you, either way.

Hi Maid, very happy to vouch for you - we've spoken privately on here about my son's congenital eye problems. I'm quite certain that you are knowledgeable and genuine.

Busy now but will write a detailed response later today. As it happens my son is off for his genetic testing next week!

My DS has had loads of genetic testing. We have had a result from the DDD study my son is Rare he has a gene mutation DYRK1A.
What info are you looking for?

Sending you a PM MoS - and a quick bump for your thread.