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Post by professgene on Dec 29, 2018 7:25:14 GMT
Hello to all forum community glad to be part of this forum I'd be happy to share the following helpful project with you. I'm a geneticist for my living. Throughout my work with patients and physicians, i have noticed a huge misunderstandings and misinformation between the two parties. The physicians most of times use very professional terminology nonprofessionals unfamiliar with. On the other hand, patients ought to precisely describe their symptoms and feelings in order to help guide the physician to more successful diagnosis medical management strategy. Efficient communication between the two sides can even prevent misdiagnoses. As a result of the patients' unfamiliarity with medical genetic terminology the patients go under-evaluated and their worried questions unanswered and the physicians have poorer insight into their patients symptoms. A new promising campaign has been released on Indiegogo that aiming to solve this problem. The Campaign's name is "The First Extensive Medical Genetics Glossary" Through this campaign we are creating the very first extensive 1000+ medical genetics glossary. Centered around diagnostics, this glossary will serve as a major professional reference for healthcare providers and for patients alike, preparing them for a more efficient and fertile discussion over the patient's situation and medical management. Patients can ultimately get prepared using our platform for discussing their situation with their physician. The Campaign's site is on the following link: igg.me/at/hEgChoCos7M/x/17884792Hope you find this post interesting and helpful and the campaign's idea's helpful Best
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Post by Elizabeth on Dec 29, 2018 7:30:48 GMT
Would you say a patient's genetics (based on DNA health test as in a saliva test) is as realiable to diagnose something as family history of the patient? Meaning is one more useful than the other in diagnosis or no?
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Post by professgene on Dec 29, 2018 10:56:16 GMT
Dear Elizabeth,
A proper diagnosis starts with a genetic counseling, where the entire family history, patients's anamnasis and medical records are evaluated, and based on all these information the genetic counselor indicates what is the most possible diagnosis. A list of specific (e.g. single gene/mutation sequencing) and/or comprehensive tests (e.g. WES test) should be confirmed to confirm the diagnosis or rule out differential diagnoses.
The commercial health and ancestry tests are performed using technique called "genotyping". By this technique, only very-well established and known DNA variants are looked at. A positive result should be reliable but should also be carefully approached, as many many traits and conditions are complex, of variable expression, variable penetrance, and so on, making inferring a direct conclusion complex. A negative result however DOES NOT rule out the condition, as the whole etiologic genetic factors should be assessed (usually FULL gene sequencing and a deletion/duplication testing) and not merely the single site tested in such commercials tests.
Hope my reply was helpful
Rabea ProfeeGene
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Post by Elizabeth on Dec 30, 2018 7:18:56 GMT
Dear Elizabeth, A proper diagnosis starts with a genetic counseling, where the entire family history, patients's anamnasis and medical records are evaluated, and based on all these information the genetic counselor indicates what is the most possible diagnosis. A list of specific (e.g. single gene/mutation sequencing) and/or comprehensive tests (e.g. WES test) should be confirmed to confirm the diagnosis or rule out differential diagnoses. The commercial health and ancestry tests are performed using technique called "genotyping". By this technique, only very-well established and known DNA variants are looked at. A positive result should be reliable but should also be carefully approached, as many many traits and conditions are complex, of variable expression, variable penetrance, and so on, making inferring a direct conclusion complex. A negative result however DOES NOT rule out the condition, as the whole etiologic genetic factors should be assessed (usually FULL gene sequencing and a deletion/duplication testing) and not merely the single site tested in such commercials tests. Hope my reply was helpful Rabea ProfeeGene What is a WES test and how is it done? But guessing the best route to take is to have a doctor do a test rather than relying on a commercial health and ancestry test.
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Post by professgene on Dec 30, 2018 18:27:59 GMT
WES stands for Whole Exome Sequencing. The better way is to schedule a meeting with genetic counselor or a doctor specialized in genetics, and have them recommend the most appropriate tests to you.
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Post by yinwang888 on Jan 16, 2019 5:33:37 GMT
You can also get correct health information from consumer genetics test, you just have to accept the fact that you can't get correct information on anything. And navigate the internet accordingly.
The discussion above is about DNA-sequencing. In DNA-sequencing you get more information than consumer genetics arrays, but actually you still have to accept that there are things - health wise - we just can't say anything about. So same thing applies. With the add-on that sequencing is particularly good/required in rare inborn diseases, whereas the field levels out in common diseases.
So what can information can you get and trust from consumer genetics? ...in top of that list is probably 23andme and their health package. It's pretty limited in scope: three common disease risks (Alzheimer's, Parkinson, breast cancer) and 20 rare. But it's FDA approved. ...next is some of the serious health sites, like impute.me. A neat thing there is that you only get served relevant results, such that for example in the precision module you enter as "otherwise healthy", you pretty much only get told if you have strong effect Alzheimer's or BRCA mutation. But more detailed information as you open up into different disease areas ...next is the big single SNP sites, like Promethease and codegen.eu - they are very extensive but they haven't really understood that common disease is always caused my many genes in concert. So people to find they have on SNP for this or that, and when this or that is a complex disease - just don't do it. Still they are good catalogue and useful for rare disease that are in fact affected by single SNP ....next is that large under growth of nutrition well being sites. I'm not going to go into details, but if they try to sell you vitamins - run :-)
And as was said already - a professional genetic counseling is of course on top of that whole hierarchy
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Post by Elizabeth on Jan 16, 2019 5:38:54 GMT
You can also get correct health information from consumer genetics test, you just have to accept the fact that you can't get correct information on anything. And navigate the internet accordingly. The discussion above is about DNA-sequencing. In DNA-sequencing you get more information than consumer genetics arrays, but actually you still have to accept that there are things - health wise - we just can't say anything about. So same thing applies. With the add-on that sequencing is particularly good/required in rare inborn diseases, whereas the field levels out in common diseases. So what can information can you get and trust from consumer genetics? ...in top of that list is probably 23andme and their health package. It's pretty limited in scope: three common disease risks (Alzheimer's, Parkinson, breast cancer) and 20 rare. But it's FDA approved. ...next is some of the serious health sites, like impute.me. A neat thing there is that you only get served relevant results, such that for example in the precision module you enter as "otherwise healthy", you pretty much only get told if you have strong effect Alzheimer's or BRCA mutation. But more detailed information as you open up into different disease areas ...next is the big single SNP sites, like Promethease and codegen.eu - they are very extensive but they haven't really understood that common disease is always caused my many genes in concert. So people to find they have on SNP for this or that, and when this or that is a complex disease - just don't do it. Still they are good catalogue and useful for rare disease that are in fact affected by single SNP ....next is that large under growth of nutrition well being sites. I'm not going to go into details, but if they try to sell you vitamins - run :-) And as was said already - a professional genetic counseling is of course on top of that whole hierarchy Hi, Are you saying that you can use your raw data from 23andme for impute.me to get more information on health? I did both health and ancestry with 23andme Also, if you're having a limitations using arktos make sure to click "desktop" at the bottom right of the screen. And welcome to the forum
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Post by yinwang888 on Jan 16, 2019 19:41:29 GMT
Yes, thanks :-) 23andme health is fine... I didn't want to chase you further down goose hunts if you are happy with that. It covers, what is it - Alzheimer's, Parkinson, breast cancer and 20 rare genetic diseases. They are FDA approved, and they are so because there's some rather strong measurable genetic effects behind them.
I meant my list more because a typical next question people have is - what about all the other diseases. And you can have some information on those, just as long as also being aware of the qualitative differences. It becomes less and less predictive/consequential for you to look at e.g. risk SNPs in common complex disease. So you can - you may not want to, and if you do - stick to the more serious options..I guess that's what I'm saying.
Hope it helps :-)
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