Genetic Testing

[Ljs383]

Hello my husband had heart bypass surgery last year and a heart attack after angiogram. His grandad, dad and sister all have heart conditions. The hospital said last year they would be doing genetic testing and our two children (9&12) would be tested. We still haven’t heard any and when my husband finally got to speak to a GP today they don’t know what he’s talking about and can’t help. We have no contact details for the hospital he was at only the hospital where he had the op. Can anyone help? Can we get these tests done privately? Thank you x

[Captain_Birdseye]

Was the test for Familial hypercholesterolemia? Hereditary high cholesterol?

For genetic tests, usually the patient would be tested first, and only if there was a positive result would family members be tested.

Contact details for the hospital will be online, call the main switchboard and ask to speak to the consultants secretary, if the consultant requested the test it should be performed, unless your husband didn't meet criteria maybe.

[Chappychap]

The NHS don't normally run DNA tests in heart cases. However, there's one exception, where there's strong evidence for Familial Hypercholesterolemia. I'm not a doctor and I don't know the precise evidence that is required, but it's a pretty high bar. I guess it's family history plus physiological evidence (for example the yellowish spots around the eyes that can show cholesterol build up) plus very high lipid scores from a blood test. FH is quite widespread, about one in 250 people in the UK carry the genes, but these tests are expensive so aren't offered without good cause.

Be aware that family history is notoriously suspect as a guide. Doctors look for first degree relatives dying below the age of 60, if relatives aren't first degree or if they were older than 60 when they passed, then it's discounted. Doctors are also acutely aware that family lore often misrepresents or misremembers cause of death, plus it was often recorded inaccurately in the first place.

The good news is that there are some very effective medication for FH, for example Inclisiran has been in the news recently and several people on this forum report good experiences with it. There's an excellent BHF article about FH here,

bhf.org.uk/informationsuppo....

Nearly five years ago, following bypass surgery I had a private DNA test that covered the fifty or so genes that can influence heart disease, it cost about £500. However, don't mix up FH genes with these other genes. The genes behind FH are quite deterministic, in other words they're independent of life style choices, where as the great majority of heart related genes operate by making the carrier more susceptible to different life styles. For example, about 17% of the UK population carry the APO E3 gene (and presumably a rather higher percentage amongst people on this forum!), but once identified APO E3 carriers can reduce their risk of heart attacks back down to that of the general population by cutting out almost all alcohol and red meat.

Hope that helps.

Good luck!

[Chappychap]

Interesting. One of the BHF's lead scientists has argued that the next big frontier for cardiac medicine will be much greater use of genetic testing, and the uniquely personalised treatment that would allow.

So how did genetic testing impact your treatment?

[Chappychap]

Your brother illustrates a critical factor in the future development of DNA testing. For every person who is excited and enthusiastic, there's at least one other who simply doesn't want to know.

And that is absolutely their prerogative.

Indeed, besides emotional arguments they also have some practical justifications. If you're given evidence that you have certain genetic challenges are you then locked out from medical or travel insurance, should you disclose it to a prospective employer or life partner, and can we all be sure that we have the long term mental resilience to deal with that knowledge?

I'm firmly in the DNA supporter camp, but I get why some people may decide not to lift fate's veil.

[22alfie]

My heart attack is also genetic my girls were offered it but didn't want to know as they said they would be worrying about it and it could never happen. Do you really want to put your young kids through that ? This may affect their lifes with anxiety and stress. This txt not ment to upset you but make you think. X

[Adhtz21]

Morning, I underwent Genetic Testing for Marfan Syndrome after aortic aneurism and it takes time. It was an appointment where they went through a number of questions and a brief examination. I was given documentation to have a blood test via my own GP surgery. The actual blood test analysis and result took around 6 months which is what the genetic testing registrar advised me it would be. Fortunately, I was negative. The good thing was it gave my son access to an echocardiogram as the bicuspid aortic valve I had from childbirth (now 59) is often hereditary and with it comes the risk of aortic aneurism. Therefore it can protect your family if identified thereby allowing monitoring. Its a long process so I suggest contacting the secretary of either the surgical team or cardiologist. The surgical team registrar arranged my testing from the onset. Hope this helps.

Kind regards,

Andy

[Truffles2]

I don’t think testing is important. There is a strong family history in both mine and my husbands family so I have urged my adult children to get tested for cholesterol which they have now done and in-fact have high cholesterol so are now taking statins and are attempting to change their lifestyles. So I think as your children get older you can educate them to understanding how they can reduce their risk so hopefully seeking medical treatment and a healthy lifestyle as they become adults

[MountainGoat52]

I asked about testing for my children, but it was thought not to be necessary. I provided details of my genealogy, but the risk could not be determined as my father died in a road traffic acciddnt aged 45 and his father in WW1 while still a teenager. My cholesterol was 4,4, so that was not considered to be significant. However, following further investigations, it came to light that I had a high homocysteine level which played a part in me having a heart attack. Again I asked whether it was worthwhile testing my children for this, but I was told no. Thankfully it is easily treated by Vitamin B / Folic Acid. My daughter took the information on board, but my son wasn't interested. 😯

[wischo]

I would be very careful with getting genetic testing on your children. I was offered this 12 yrs ago for my children due to a familiar mild dilated cardiomyopathy diagnoses, which has not gotten any worse and the cardiologist did say that if my children test positive it could cause real problems with getting a mortage for a house etc as the lender may not grant them mortage insurance, or at best hike it up. There are quite a lot of other problems they could run into with positive results so they did not get it done. Probably worthwhile when they have their house, career etc sorted and can have the test then if required.

[WardijaWardija]

Hi ljs.I read your post with interest.

I have Hypertrophic Cardiomyopathy, which is a genetic heart condition.

I am under the care of "The Inherrited Heart Disease Unit" at a major NHS UK (Oxord) specialist Heart Hospital.

I was offered family genetic testing for all my blood related family members.

Didn't even have to ask.

I'd suggest you contact the hospital involved and speak with the Secretary of the Cardiologist who treated your husband.

I can't see any reason why you should need to seek genetic testing in the private sector.

Good luck.

[Hidden]

Hi. They told me exactly the same thing in 2020 after a Bypass. ALL on my Mother's Side have died of Cardiac Events. I have not heard a thing since. I suppose with the Pandemic and the NHS Backlog hasn't helped though. I haven't got round to contacting them about it! 😊