3 ms·
I am following this with interest. I have some variant of Marfan's syndrome but have not shown the associated heart problems. After consultation with a geneti
by btilly 8y ago
I am following this with interest.
I have some variant of Marfan's syndrome but have not shown the associated heart problems. After consultation with a geneticist we concluded that I could spend a bunch of money to get the exact variant that I have of the relevant genes sequenced. But almost certainly I would learn that I have some variant of Marfan's syndrome that is not understood. Relatives who also have the same phenotype can get sequenced to verify that it is genetic. But since none of us are showing the most troublesome problems, and the literature almost certainly doesn't have our exact variation, I would learn nothing more than I know already.
So just get an MRI every 5 years, and wait for costs to come down and research to improve. In 10-15 years look again and maybe the genetic test will be useful then.
For a genetic condition as specific as mine, the sequencing done by these commercial providers is useless.
- dekhn 8y agoI agree. I know a lot of genomics and health and after having my whole genome done, the results were worthless- I knew more than the genetic counsellors and had to explain to them that just randomly googling for SNPs and grabbinbg keywords from the research papers was a terrible idea. There are a few very well done genetic tests for a limited number of diseases.
- Gatsky 8y agoFinally, a voice of reason.