quite interesting, but I started "skimming" this as soon as I hit:
“We previously found that young individuals who present due to early onset thoracic aortic dissections are more likely to have bicuspid aortic valves and more likely to have rare variants in bicuspid aortic valve-associated genes,”
because this is (as I understand it) a minority of BAV cases. There are (as I understand it) far more of us (I'm BAV and early diagnosed {or at least suspected} at about age 5) who make it through even quite late to adulthood before their (perhaps more than 30 years of) BAV made itself known.
“When we observed that bicuspid aortic valve is kind of a risk marker for this group with bad outcomes, we specifically wanted to see whether young individuals who present clinically due to problems related to bicuspid aortic valve disease may also have rare genetic variants that predict complications such as needing valve surgery.”
so aortic dissections is "a risk marker"
Call me old fashioned, but the early presentation of a murmur is what I call a risk marker, and an aortic dissection is actually not a risk marker but a life threatening situation.
While this was interesting reading it underscores to me where the treatment : reward ratio is now being turned on its head. I see this in all areas of science (from particle physics to genetics) where increasingly expensive research (think
CERN) blows out into the billions and yet fail to contribute much of significance to the specific field.
Increasingly its all about pulling out the cherry picker to grab the highest fruit at a diminishing return for most people.
About 1 in 100 people are born with a bicuspid aortic valve, making it the most common cause of congenital heart disease.
The comparison between the rare subgroup of early onset bicuspid aortic valve to the common population of the disease allowed researchers to determine which group of patients will benefit from genetic testing, enabling earlier, more aggressive treatment.
so we go from 1% down to perhaps 1% of 1% benefiting ... and no actual certainty of treatment. Just "here, have some worry". As a BAV patient I think I was actually glad that I struggled out from underneath the "cotton wool" covered lid and went and took risks and lived my life (prudent risks IMO).
Actually all my concepts above are well discussed in the movie GATTACA
Lastly I loved this admission:
“We showed that the older patients with bicuspid aortic valves are unlikely to benefit from genetic testing because they are unlikely to have these kinds of genetic variants,” Prakash said.
Yep ...
Sometimes we have to ask the question of "what's better for humanity" (rather than some individual person).
Were I told from birth I had a 90% chance of dying by 30 would I have done degrees, contributed to companies, contributed (even if only a little bit) to the fields I worked in and studied? Been here helping others?
or would I have just had a good time and probably fulfilled my "destiny". I made it to 60 ...
I'm not sure that genetic testing helps (the resipients, not the researcher getting grants and funding) as much as it obscures and disincentives the people tested.
Just my view.
