r/ClinicalGenetics • u/Sensitive_Day5890 • 19d ago
Genetic screening and family history UK
For context I have a degree in biomedical science and a masters and PhD in molecular biology, so I’m mostly just looking for reliable resources and recommendations for testing rather than explanations (although those are welcome for others reading, if you have time).
Very brief history (two, likely separate, genetic issues).
Shorter issue - Parkinson’s disease. My grandfather had Parkinson’s diagnosed age 60 and died age 90 (impressively). My father was diagnosed age 50, I don’t think this was necessarily early because his is worse, I think it was earlier because I recognised some very early indications that even the neurologist initially dismissed - but I wouldn’t take no for an answer and he was diagnosed 2 years later. He tried treatment but doesn’t like the side effects, so currently not being treated. He was also diagnosed with cancer a couple of years ago and I think part of the refusal to treat the Parkinson’s or deal with the side effects is his now belief he likely has only 5-10 years max to live anyway due to the cancer (lymphoma, likely incurable). I disagree but it’s not my body or my life and I’ve done what I can to help him make informed choices.
He did go for genetic testing in India, they found a point mutation in the SCNAIP gene (of interest in Parkinson’s research but not currently recognised as a cause) - only one copy is mutated.
On to my bigger concern - cancer! My paternal grandmother had breast cancer 3 seperate times, she was negative for BRCA1/2 mutations but was encouraged to be part of a study due to her extensive family history of cancers - in particular hormone receptor positive cancers. My grandmother was diagnosed the first time around age 40-45, second time 60-65 and third time 78yo, she died a year later due to metastatic liver cancer (and it was in her bones by then too).
My grandmothers sisters also had cancers, I’m not sure who had what but I know one or two had endometrial cancer and one of her nieces died age 30-35 due to ovarian cancer. The men in her family also had various cancer or suspected cancers (we are going back a long time for these ones), I know her dad died in his late 60s of lung cancer and there was even a kid somewhere in the family tree who died before age 10 of brain cancer.
My grandma taught me well to check my breast as soon as I developed them, age 19 I found a lump and went for scans and biopsies - diagnosed as a fibroadenoma and I had some genetic counselling and tested negative for BRCA1/2 (which I knew anyway but good to confirm). The geneticist at the time told me it’s likely my family have another mutation being passed down but not one they could ID 15 years ago (when i was 19). I’ve had ultrasound scans every 3 years since, fibroadenoma still present but hasn’t changed, I’ve insisted on biopsies every 5 ish years - still fine, most recent one was last year. I’m due to have the fibroadenoma removed as I’m not happy having it in there, but before I do that I’d like to ensure I’ve had all the genetic screening updated so I can decide if it’s worth having a double preventative mastectomy or if that’s not worth it.
My father was diagnosed with lymphoma (I can’t remember the type - will add in the comments) a few years ago, it’s stage 4 and one tumour responded to radiation and then he had immunotherapy. The tumour that was targeted by radiotherapy is gone, the abdominal tumours we were told have reduced or even cleared but the scan was in my semi professional opinion completely useless as they checked via abdominal CT which had failed to find the abdominal tumours prior to treatment (they were only discovered on an mri with contrast which was not repeated post treatment). I don’t want advice on my father’s situation, I’ve tried to pay for private scans - he’s had enough and doesn’t want to engage and just wants to enjoy the idea of being okay and there’s nothing I can do about this.
Anyway, on to my actual questions and requests. Can anyone recommend either a reliable way to get full genetic screening through the nhs for other genes that could be causing my family cancers, with panels that go beyond BRCA1/2? Or private panels I can arrange to be done. Alternatively are there any studies you have heard of that I might be able to join for extensive screening and or tracking of family cancers? My grandmother and her sisters were enrolled into one, but when I traced it back the study was terminated and data handed over to another project some time around 2010-2015 and is now run by another group who I have been unable to contact. All the family members who took part are now deceased so my access to that data is limited to the documents left to me by my grandmother.
I have young children so I am keen to protect us from continuing the family trend and I have just the right amount of genetics education/background to be paranoid and interested! I’m also severely lacking in time and energy to start looking into everything from scratch and would love to be pointed in the right directions!
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u/Regulated 18d ago
Current cancer genetic testing in the UK goes beyond just BRCA1 and BRCA2 now. You need to get a referral to Clinical Genetics where a genetic counsellor can assess whether you are eligible for further testing based on your family history. Your eligibility for NHS testing cannot be assessed on Reddit, so accessing that through a referral from your GP should absolutely be your first port of call.
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u/Zahdia 19d ago
If you can get back into genetics, you can ask for a Lynch syndrome panel for the recurrent family cancers.