When a customer purchases a DTC genetic test, in addition to personalized result files from the genetic provider company, she/he has normally access to a file that contains the analysis of her/his DNA. In other words, customer’s A’s, C’s, G’s and T’s in the evaluated DNA positions. That is why is called raw data format, because this type of file needs to be processed in order to extract meaningful information.
Raw data files are usually in a human readable format, text format, where each row represents:
- a DNA position (also called DNA marker) with the information about the marker name, that typically is a standard name used by researchers to identify a specific site (or a company internal identifier)
- the exact genomic location in human genome
- customer’s genotype, that is, the specific variants (A, C, G or T) for that marker.
Number of evaluated positions varies across provider companies and the purpose of the test. Most popular tests analyze over 600.000 positions. In case of full genome sequencing all genome is analyzed so raw files contain information about 3 billion sites.
Providers alert their clients that these raw data files are only for research or education and are not suitable for medical purposes, such as diagnosing a disease and that may also contain false positive results, that are wrong genotyped positions that could affect further analysis with this data.
Many companies make raw data files available for their customers. They can be downloaded from DNA test provider’s websites or requesting a download link. It’s important to note that once customers download and store raw data files in their devices, these are no longer protected by the original service’s privacy measures.
What to do with DNA raw data files?
Considering the nature of raw data files and the necessity of a specialized process to extract information from these files, their interpretation can be challenging for customers.
To help with this task, many of third-party services are offered on app stores or via the Internet with a variety of purposes:
- predictions about health (for example, Genomapp)
- fitness and nutrition reports
These services empower users to research and obtain personalized information about their genome and to be more proactive about their health, and promote awareness of genetic diseases. But they also have the same risks as DTC companies that must be taken into account:
- reports may include unexpected information that can cause anxiety or stress
- they could include false positive or errors in the results
- they might be difficult to understand without guidance
When choosing a third-party tool or a DTC test, it is important to assess accuracy of the results and find out how it protects users privacy and genetic information.
One of the most popular apps for analyzing DNA raw data files is Genomapp. It supports raw data files from major DNA testing services such as 23andMe, AncestryDNA or MyHeritage. Genomapp has the most extensive list of conditions from official sources. Download it now and test it with the demo mode!