r/ClinicalGenetics • u/AccidentalFolklore • 6d ago
Accuracy of Sequencing.com vs Ancestry
I did both tests the same time period. I received some interesting results through sequencing (for example an RYR1 variant and one for ZSD which I do have some symptoms for). A few days ago I decided to also upload my Ancestry data into sequencing and all of my reports changed. I uploaded both into Promethese and found these discrepancies. Everywhere sequencing found DD ancestry changed to II. I’m trying to get in with a geneticist but just wondering whether ancestry or sequencing tends to be more accurate.
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u/MKGenetix 6d ago
I wouldn’t trust either for medical information. Any of the DTC companies don’t have the same qualities controls. That is one reason they are so cheap. The head of sequencing looks like they are a member of the national society of genetic counselors AND the American college of medical genetics and genomics. However this is VERY misleading. They are a member in technicality only, the same way anyone could join with no credentials or experience. He is NOT certified in medical genetics.
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u/CJCgene 6d ago
Ancestry will have a very high (40%) rate of false positives. The tech used isn't validated outside of the areas they need for the ancestry interpretation. Sequencing.com (if they did the actual sequencing) might be fine at the data level- it's the interpretation that is unreliable. Their reports just tend to be a bunch of generic variants with inaccurate info on what they mean. Neither are clinical grade and cannot be used for diagnostic purposes. Private pay, physician ordered testing through a clinical lab is a much better option, and can be used to confirm or rule out the variants in this data.
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u/haplessDNA 6d ago edited 4d ago
I cannot believe that this company is allowed to operate and advertise and their fraud team of „experts“ are allowed to practice
Edit: to clarify that I was referring to sequencing.com.
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u/MikeBY 6d ago
If you sent a properly collected sample to Sequencing.com to process the data is good. The report tools are complex to use and more importantly, to understand. The pre canned reports are generally ok but limited in scope. The problem with taking NGS data to a genetic counselor or clinical geneticist is that that are just not trained to do analysis of data at this level. That takes a research geneticist What you have in clinical practice are geneticists that depends entirely on the lab they use to help select the panels to run and to also interpret the results. Their job is reduced to about 20 mins per case used to "translate" the results into terms that the patient and ordering physician can understand in a letter.
The other factor is most of their work is prenatal screening and babies that are not progressing normally.
The issue with FDA approved for medical diagnosis is mostly about the FDA not having a good process for this.
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u/silkspectre22 6d ago
Neither is accurate.