Do Doctors Take Genetic Tests Seriously?

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Hello, there is a service called Promethease where people can upload their raw DNA data from 23andme, etc. It will connect it with a database of research studies and identify possible risks.

I have been having various kinds of symptoms such as failing OGTT but being antibody negative for type 1. Here is a research study https://www.researchgate.net/figure...atients-in-the-Better-Diabetes_fig2_289065369

It spells out that people with HLA-DQ2/DQ8 are incredibly common among antibody negative type 1s. I only have HLA-DQ8 (https://www.snpedia.com/index.php/Rs7454108) which is 30% frequency in whites population. This would imply that people with it are at high risk, yet less than 1% of population has issues with glucose.

I am just wondering if there are open-minded doctors, willing to look beyond standard diagnostic methods. I was tested for ICA, IA-2 and GAD only though, so 2 other possibilities are not tested.
 

Guzzler

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The definitive causes of Diabetes are unknown (apart from MODY?). Companies like 23andme and Ancestrydotcom tap into a network whereby multiple people upload multiple data. The science of genetics is very young and although the human genome has been mapped we are a long way from fully understanding it.

This is just my opinion.
 

Engineer88

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Personally I wouldn't rate anything that has a youtube tutorial but I'm in a rather cynical mood.
 
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phoenix

Expert
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I agree that that HLA-DR3-DQ2 or HLA-DR4-DQ8 confer a susceptibility to T1 (.The SNP rs7454108 has been used as a marker for DQ8 in several studies, this is one of the alleles tested in the chip used by 23 and me. )

This has been known for many years and there are countless papers referring to it. ( including a recent paper suggesting that a drug which supresses the product of DQ8 could prevent T 1 in those susceptible ; hypothesis not yet tested!).https://jdrf.org.uk/news/blood-pressure-drug-tested-clinical-trial-prevent-type-1-diabetes/
I doubt however that doctors will find it useful to investigate the presence or absence of the haplogroup in a clinical setting.Even with the higher risk ( i.e. carrying both DR3 DQ2 and DR4 DQ8 ) it carries only a 5% risk unless they already have a T1 sibling with the same haplotype .https://www.diapedia.org/type-1-diabetes-mellitus/21040851211/genetics-of-type-1-diabetes. There are other genes that may play a part and several possible enviromental triggers.


( from a personal point of view, I am also heterozygous for DQ8, [CT] I developed T1 at 52 , I did have GAD antibodies. My father from whom I inherited the T allele was also CT. He lived to age 86 with no glucose problems)
Edited typo
 
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Messages
21
Type of diabetes
Other
Treatment type
Diet only
I might have found a doc who takes me seriously and at least ordered another Hba1c after 6 months of the last one. I did not spout to her about genetics stuff though because she seemed uncomfortable when I explained everything and was told 'I know more than her on this matter'...