Raw Genetics Interpretation

Raw Genetics Interpretation

Raw genetics is all about allowing individuals to take control of their own personal genomic health data. While direct-to-consumer (DTC) testing companies such as 23andMe, MyHeritage and AncestryDNA officially report out ancestry, trait and some health information, they also provide consumers with the ability to download their own raw genetic data file.

When it comes to raw genetics their own raw genetic data, many DTC consumers turn to a growing menu of third-party interpretation (TPI) services that are largely unregulated and whose interpretations vary in quality and veracity. These interpretive tools often generate false positives and can lead to unnecessary anxiety, medical interventions and costly healthcare utilization.

From Seed to Sensation: Insights into Raw Genetics

The TPIs are able to offer their services because of the availability of raw genetic data from DTC DNA testing. Typically, the TPIs are able to access the raw genetic data through a special software protocol that allows them to access the individual’s sequence file directly. The TPIs can then apply an algorithmic process to determine if a particular SNP is pathogenic and whether that individual has an increased risk of disease.

Despite the growing market for TPIs, little research has been conducted on consumer follow-up after their raw genetic data is interpreted by a TPI. Studies investigating education, support and medical care for patients who are referred to clinicians based on third-party TPI interpretation should be conducted to understand the scope of these concerns. Additionally, the professional genetics community should proactively engage with users to better understand their motivations for seeking out TPIs and ultimately educate them about their limitations.