The poster is a genetic counseling student working with the Children's Hospital Colorado's Biochemical Genetics Lab.
This lab does the only TMAU urine testing in the USA, so it's a big opportunity to voice your opinion on US TMAU testing.
The post says :
Hello all! I wanted to make you aware of a research study being conducted to better understand the experience and needs of individuals with trimethylaminuria with a goal of being able to create improved patient and healthcare provider education materials. Any participation is completely voluntary and all responses remain confidential. Feel free to use the contact information within the link with any questions or share the survey with others with TMAU.
Denver CH was the 'discover' of TMAU(?) in 1970. But since then it has felt like a legacy test that is continued for prestige. For example, it can only be done via a Dr order and not on insurance, and any contacts on the website have been removed over the years, presumably to avoid public contact altogether.Maybe this survey is a sign they wish to serve the community.
Everyone is free to write whatever they wish. Meanwhile here are some points people can mention (or not) if they wish.
1. have the option of a CONSUMER TEST (where people can test direct and self-pay).
It's too hard to access.
2. Add more biomarkers (i.e. FMO3 substrates). Possibly TMA only spots 'severe' FMO3 Malodor cases. Sulfides are more likely. TMA is not the best biomarker ?
3. Set up a lab-community co-operation group ... e.g. Friends of Denver TMAU test.
4. Urine test only spots 'severe' cases ? Sheffield UK used to spot less severe cases until 2017, but then they changed to same method as Denver.
5. Why is there never TMAU2 cases, when in theory it's the most likely ?
6. Think about ease of testing ? Is dry ice realistic ? So many obstacles. UK seems to use acid preservative.
7. Gene test should probably be the first test to do. A saliva test like 23andme would be good.
8. TMAU test profile should include Choline testing.
There are so many other ideas. Feel free to let them know your view.
1 comments:
Alguien nos debería de ayudar y decirnos que es lo que debemos hacer
Maria ayudanos y guiarnos en el camino que debemos seguir