[rubyist5eva]

For all intents and purposes, I am white but I am also of French descent. My wife is also, for all intents and purposes "white" - . When my wife was pregnant they asked for our ethnicities but wanted more details than just "white". When they found out that I had French descent, they added initial genetic screening for the baby for a disease which only statistically significantly occurs in people with French descent.

[stickfigure]

This seems a poor way of economizing on tests. How would someone of (say) German descent be sure that some of their ancestors didn't come from across the border? Very few people can trace their lineage back more than a couple generations.

[troupe]

Keep in mind there is also the chance of false positives on those types of tests. So anything you can do to do them only on people where there is a higher chance of them being meaningful saves not just the cost of the tests but mental anguish for people who would get the false positive results.

[rubyist5eva]

I agree, it's not an exact science and I am not a doctor or run a practice so I do not know why they would do it this way. Probably a "best we can do" type situtation.

[dekhn]

That's backwards. They shouldn't use your self-described ancestry to choose which tests to give you. The test already has the ability to determine that better than any human.

[rubyist5eva]

The specific test is expensive and they do not cover it with our single payer healthcare, so they don't recommend/do it unless they have to.

[dekhn]

Understood, but using self-reported race is very inaccurate, so they are wasting money a lot of the time. Instead, a rapid ancestry test would be inexpensive (<$100) and would provide a much better guide to determine if the expensive test should be taken.

WHat test is it (if you feel free sharing)?

[ricardobeat]

I thought genetic screening was most useful before pregnancy, to know if a child would be at risk of inheriting any conditions from their parent’s genes, or to diagnose a disease and guide treatment. What’s the purpose of blanket screening a child that hasn’t shown any symptoms?

[rubyist5eva]

In our case, this disease can be detected very early in the womb and children born with it do not survive very long - usually only a few months, 2 years at most if I'm remembering correctly. They do these tests early so the pregnancy can be terminated if the parents choose.