Niha Zubair, Arivale Clinical Research Scientist, PhD
With genetic testing becoming more affordable, consumers have the luxury of choosing between consumer genetics companies based on their particular interests. The genetic results they can get from these companies are typically limited to ancestry, wellness traits, and some diseases.
However, some consumers want to know more about themselves than what’s reported by the genetic company they’re working with. Thus, many have chosen to take their raw genetic data and upload it to third-party interpretive services to understand, among other things, their risk for certain diseases.
Consumers who choose to do this should be careful. There are potential risks to uploading your raw data to third-party services, as described in a recent opinion piece in the New York Times.
You Can’t Unsee the Results
First, as a consumer (and non-geneticist) it can be very hard to understand to the full extent the information you’re about to receive. Individuals may not be ready mentally to know their risk for a certain disease. Remember, you can’t “unsee” whatever information a the third-party service provides.
It’s also important to think about the actionability of the findings. Diseases reported may not always have preventative or treatment options available, and many third-party services that take raw genetic data don’t provide recommendations or interpretations of what they report.
There May Be Problems With Your Data
Second, there can be issues with the quality of your raw genetic data. Genetic testing companies typically use genotyping arrays, which are not foolproof, in identifying the correct genotype at a genetic variant. Most genetics companies have quality control processes for the variants they actually report to their customers from a genotyping array to minimize the potential of a false results.
However, these quality control processes may not be applied to the raw data as a whole. As a consequence, the raw data may contain incorrect genotypes at certain variants not reported by the company. Some of these incorrect genotypes, when uploaded to a third-party service, could point to having a higher or lower risk for a serious disease. Thus, using this incorrect information, one could get either a false sense of security or a false alarm.
This is a scenario that occurred in the Times piece. An individual took his raw genetic data from one consumer genetics company and uploaded it to a third-party interpretive service, which calls out genetic variants associated with medical conditions in the scientific literature. This third-party service revealed he had a rare genotype that has been deemed as “pathogenic” with an almost 100-percent chance for developing early-onset Alzheimer’s. This was obviously a scare for the individual. Later, the individual, rightfully curious, took a different genetic test from another company. Like before, he uploaded this data to the third-party service, but this time it told him his genotype was now common or “normal.” His DNA obviously hadn’t changed, so which genotype is correct?
Is the Interpretation Accurate?
Finally, assuming your raw genetic data are accurate, there’s still the possibility third-party services may incorrectly classify and convey the potential impact of the genetic variant on your health. These testing companies and third-party interpretive services understand these risks and do their best to alert consumers with disclaimers. However, consumers may not always understand the ramifications of utilizing their raw data.
Furthermore, some third-party services are run by companies or individuals with a certain perspective or even a product to sell (nutritional supplements, for example). We’ve seen cases where third-party services are providing a variety of interpretations of raw genetic results that are not supported by evidence-based science.
Medical Genetics vs. Consumer Genetics
From a consumer genetics standpoint, there are no clear guard-rails regarding the information you can obtain from your raw genetic data. In contrast, in the medical genetics field there has been a lot of thought on the ethics and standards for reporting genetic data linked to diseases in healthy people (so-called “incidental findings” or secondary findings).
The American College of Medical Genetics and Genomics has guidelines to deal with the risks mentioned above. First, they recommend reporting only genetic data linked to medically actionable diseases (meaning there’s something you can do, either through increased screening or medical treatment). For example, the early-onset inherited Alzheimer’s disease described in the Times piece isn’t considered actionable from a medical standpoint, thus genetic variants related to this disease would not be reported to healthy people under these guidelines. Second, medical laboratories always confirm any potentially serious genetic findings with an alternative sequencing method before reporting anything to an individual to avoid the issue of false positives. Third, medical laboratories have precise guidelines on how to classify and convey the potential impact of the genetic variant on your health. All this will typically be explained by a genetic counselor, someone highly trained to deliver this information, while taking into account your personal health history and family history.
Unfortunately, getting access to medical genetic testing or genetic counseling can be complicated, expensive, and time consuming. As a result, many people turn to consumer genetics companies as a way to better understand the potential health risks and advantages from their DNA.
As the Times piece clearly indicates, however, going beyond what the company has curated and vetted by uploading your raw data to a third-party interpretive service can be fraught with difficulty and has the potential to open a Pandora’s box.
That’s why – as excited as we are about the democratization of access to genetic information that consumer genetics brings – we don’t currently encourage people to upload raw genetic data obtained from credible companies into third-party interpretive services.
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[Arivale Hot Topics address health stories currently in the news. The Arivale Clinical Team’s commentary on these news articles is not a review of the scientific evidence, nor an endorsement of a specific study, and is not meant as official medical opinion.]