Spit DNA Collection Limitations Magnifies Genomics Research Diversity Issue

We have been advocating that the diversity in genomics research is an issue since Mawi DNA’s inception in 2014. Interestingly, in late 2018 and now 2019 several publications came out to describe this issue in greater details.   Unfortunately, such gap of genetic data hinders progress in understanding the global picture of human health and in particular personalized and precision medicine including the pharmacogenomics of how our bodies react to different drugs.

Spit and/or saliva collection might have been an acceptable alternative to getting gDNA from blood sample. But now it is becoming obvious that its use has many limitations:

  • Not everyone can spit 1-2 mL, especially children and elderly, which in fact include 40% of the population
  • Spitting in many cultures is considered in proper behavior even if it was in a tube. Limiting sample diversity across the globe
  • Relatively high sample failure rate due to low quality gDNA with high bacterial DNA contamination

Why lack of diversity hinders genomics research?

  • Majority of the genetic data collected is from European decent, which represent 16% of the world population, therefore cannot be applied to other parts of the world.
  • What works for you not necessarily works for me, which is affecting medications efficiency and pharmacogenetics profiles across individuals
  • Stored samples from completed cohort genetic studies are mainly spit, that adds another level of delinquency of the diversity issue

What are the main characteristics of a universal sample collection method that can help solve the diversity issue?

  • Does not require expertise and or special equipment to collect a sample
  • A universal method that allows self-collection applicable for every population segment from premature babies to any age regardless of gender and medical status
  • Can be easily transported and stored at room temperature for elongated periods of time
  • Provides high quality gDNA with low bacterial DNA contamination
  • Has small size footprint for easy transport and storage
  • Can be used in remote areas
  • Relatively economical to collect and process

iSWAB checks all of these requirements and more, making it a true universal sample collection technology! 

How does iSWAB work?

  • Rub the inside of your cheek with a swab or cytobrush
  • Insert the swab inside the iSWAB device to release the content of the swab head into the stabilizing buffer
  • Take the swab out from the device and through it in the garbage
  • Close the iSWAB device
  • Ready to ship in a standard mailing envelope at room temperature

Swabs are known to be a universal sample collection tool but lacked gDNA quantity and quality. Using it with iSWAB resolves this issue and thus making accessibility of samples from across the globe regardless of age, medical condition or level of education. iSWAB is bringing diversity back to genetic and multi-OMICS research.

Article Sources:

https://www.statnews.com/2019/03/06/lack-diversity-hinders-genetic-studies/

https://www.npr.org/sections/health-shots/2019/03/21/705460986/human-genomics-research-has-a-diversity-problem

https://www.sciencedaily.com/releases/2019/06/190619142605.htm

https://www.the-scientist.com/news-opinion/lack-of-diversity-in-genetic-datasets-is-risky-for-treating-disease-65631

https://www.the-scientist.com/news-opinion/lack-of-diversity-in-genetic-datasets-is-risky-for-treating-disease-65631

https://academic.oup.com/bioscience/article/69/8/684/5522596

https://www.technologynetworks.com/genomics/news/lack-of-diversity-in-genetic-studies-may-drive-health-disparities-320886

https://blogs.scientificamerican.com/voices/we-need-more-diversity-in-our-genomic-databases/

https://www.genome.gov/news/news-release/Genomic-databases-weakened-by-lack-of-non-European-populations