Whole genome sequencing

[FeegleFrenzy]

Dd who is in her early 20s had an unprovoked blood clot a while back and the nhs initially tested her for the most common clotting disorders and they were all negative. She asked the haematologist if there were more tests she could get done privately and he seemed to take pity on her and said he’d sort the extra tests on the nhs. She went back today and it was whole genome sequencing, she had to sign a massive disclaimer saying she knows that upsetting diseases may be picked up, that there’s implications for her wider family, etc.

it’ll take six months to get the results. I’m just a bit worried. While knowledge is power, etc what if she gets told she’s got a higher risk for dementia, or cancer, etc and then you’re left with a potential ticking time bomb waiting for something to happen. What if she then can’t get travel insurance? What if it’s a condition she must have got from me or dh and then I’m sat there thinking we’ll have I got Alzehimers or Parkinson’s 🤷‍♀️

anyone had this done?

We recently did this as a family for my son who has autism and a chromosome disorder. They don't test you for literally everything (well that was how the genetics team explained it to me) they look at all your genetic differences and flag anything that could be linked to the symptoms you have. There is of course a chance it could flag something but it's unlikely. You can opt to be on a database, so as science advances and they discover new things, they can get in touch if it relates to you.

Not an expert but I feel like she should have been offered genetic counselling. In England at least the advice seems to be to only offer whole genome sequencing for rare diseases and cancers
https://www.genomicseducation.hee.nhs.uk/supporting-the-nhs-genomic-medicine-service/requesting-whole-genome-sequencing-information-for-clinicians/
Was this elsewhere in the UK?

According to the Association of British Insurers, you don't need to disclose genetic test results in most cases when buying insurance, and this includes travel insurance.

I can understand why you're concerned, though - this seems like a big step.

Thanks both. She’s agreed to the database thing. It was a consultant haematologist who counselled her but it seems quite brief……and no time to go away and think about it. It was mentioned that things might get flagged up which is nothing to do with clotting. The consultant did say it wouldn’t normally be offered but he seems to have taken a shine to Dd. 🤷‍♀️. We are in England. I guess it could potentially come under potential rare disease?

Good news about the travel insurance though, thanks for that.

Waiting to get it done. I've had a few friends whose children have had it done. With one, they just wanted to know what type of his particular condition he had. With the other, his parents thought he had a squint, took him to the hospital and was told he has a more complex eye condition but they had no idea why. His MRI was clear. He has part of one of his chromosomes missing.

Hmmm, looks like she might not have to disclose a predictive result but would have to disclose if she was actually diagnosed with something

I've also had an unprovoked blood clot. Tested privately and negative for all known thrombophilia however haematologist explained there are many genetic clotting disorders yet to be discovered. Did my and my children's full genome privately (USA company but just post off swab). Really intereresting I get updates each month based on my genome and research, often come up flagged as having a risk for a new clotting disorder. One daughter showed a higher than average risk of breast cancer with sensible advice eg start screening much younger. It's a very useful thing to have done. I doubt very much she would need to disclose anything as it is all just a risk thing not a certainty diet lifestyle etc are important.