Indirect BRCA testing: waiting for results...

yukibana

Hello...

I posted this message in a different forum earlier, but the moderators helpfully pointed out that this forum was more relevant. So...

I begun the consultations for BRCA testing quite a long time ago (about 2 years?), but due to waiting lists, and putting things on ice whilst dealing with my Mum's death, I only had my final counselling session/blood sample submission yesterday. I've been told it could take up to 3 months for my results to come back (especially with Christmas and new year in the way), and am feeling really tense today, wondering about the results and feeling in limbo. I hope this tension eases up soon, or I'm going to be grey with worry before the 3 months is up!

My main reason for wanting to post on here (and hoping that someone replies!) is that I don't know anyone else who has had this testing, or is in a similar situation, so I'm feeling a bit alone... I have good family and friends, but they have their own hectic lives, and I'd rather lean on people (and be there for them in return ) who understand this from experience.

So...anyone else out there waiting for results? Or already have their results (positive or negative) and want to share any tips/thoughts on coping with the emotional side of things? All of the threads I've looked at seem to be US-based - the UK's NHS have only just (last few months) started indirect BRSA testing, and my hospital have told me that I'm their first case, so I'm keen to hear from anyone (anywhere in the world!) who is sharing this experience.

Happy Fridays to all

Mutd

It's a fascinating topic but I just don't think there is any clinical lab doing indirect BRCA testing in the US. Everyone is just reporting straightforward mutations, and nobody is working on family-specific predictive markers for the families where a link between the gene and the disease is suspected or even proven, but there is no easy-to-find mutation.

In fact the ACMG is revising the mutation reporting guidelines right now, to make sure that clinical testing labs stop interpreting familial predictive markers as mutations. The new guidelines do not give any recommendations what (if anything) they are supposed to do now when they find that some genetic variation which is linked to cancer in one or more families.

We follow a large number of families where several relatives already had tests, and the BRCA linkage has already been established. But the patients didn't specifically request indirect analysis, and some of them did not even consent to share their data with the family, so our hands are totally tied - can't report the results of indirect testing, and can't refer the patients to anyone who can, either.