Learn How Our Swabs Play a Role in Genetics Testing
In April 2003, Nature Magazine published the final release of data from the completed Human Genome Project. As groundbreaking as this remarkable achievement was for those involved, it initially had little impact upon the general public. The development of human genome mapping had not provided real evidence of a correlation to disease outbreak or phenotypic differences.
Twenty years later, the story is vastly different. The Human Genome Project laid the groundwork for researchers to understand possible genetic links to specific diseases. Researchers interpreting this data have identified links between certain genes and certain outcomes, driving significant healthcare improvements. These developments have broadened our understanding of ourselves and our health. And, in many cases, this broader understanding begins with a simple swab.
What is a genetic test?
According to the CDC, genetic testing looks for mutations or variants in a person’s DNA. While blood is a common sample type for genetic material, data has shown that buccal cells – found on the inside of the cheek – can yield much the same amount of genetic material as blood. As a result, a collection swab is an ideal non-invasive option for the collection of genetic samples. The CDC explains that these samples are then analyzed in one of several ways:
- Single gene testing analyzes one specific gene to determine if a person or their child has a specific condition or syndrome, based on symptoms or a family history of a known genetic mutation.
- Panel testing analyzes many genes in a single test. Panels are typically grouped in categories based on different types of medical concerns.
- Large-scale genetic or genomic testing may look at an individual’s entire DNA or all genes related to certain medical conditions. This can help understand complex medical conditions or for use in research.
What swab is used for a genetic test?
Genetic testing can be performed by rubbing a buccal swab in the cheek pocket to collect a high-quality DNA sample. The swab should be sterile, gentle, and able to collect a sample of ample volume for analysis. While a cotton tip applicator is often chosen for this DNA collection, an appropriate buccal swab can be made from foam, cotton, or flock.
- Cotton: Cotton swabs are widely used in the field of genetic testing, due to their versatility and affordability. The medical-grade cotton used in Puritan swabs is ideal for buccal sampling, as it creates enough friction to release the buccal cells from the inner cheek while remaining soft enough to be non-invasive. Options include Puritan’s 6" Sterile Standard Cotton Swab with Wooden Handle: 25-806 1WC.
- Foam: Medical grade foam-tipped swabs are often chosen for buccal cell collection due to their high particle collection capacity and soft tips. Options include Puritan’s 5" Sterile Large Round Foam Swab with Polypropylene Handle: 25-1805 1PF RND.
- Flock: Puritan’s patented flocked swabs feature a unique micro-structure design that results in superior collection and elution properties, even when cell counts are limited, compared to cotton or foam swabs. Options include Puritan’s line of Sterile HydraFlock® and PurFlock Ultra® specimen collection devices that are individually wrapped or in dry transport tubes
What to look for in a genetic test swab?
An effective genetic swab is one that limits the risk of contamination from the collection swab. The use of a DNA free or DNA controlled swab ensures that the individuals performing sampling and analysis can be confident in their results’ accuracy.
As many genetic tests can now be performed at home, many test providers look for collection devices that come with an appropriate transport device. Puritan’s swabs can be purchased with our patented dry transport tubes that feature a perforated cap or a breathable filter that covers holes to allow for thorough drying during transport. Puritan provides a line of DNA Controlled Dry Transport Systems (FAB-SWAB) as well as the Cap-Shure line of swabs equipped with aerated protective caps.
Softness is another feature to consider, particularly in certain applications. Puritan’s flocked swabs have proven gentle enough for DNA or paternity testing on newborns.
How to do a swab-based genetic test
Every test should always be performed in accordance with the test kit provider’s instruction. In general, however, a buccal cell sample can be collected using the following five steps:
- Wearing gloves, remove the swab from the package. Be sure to hold the swab by the handle end only.
- While applying gentle pressure to the outside of the cheek to assure good contact with the applicator tip, insert the swab into the mouth and firmly rub up and down against the inside of the cheek 10 times.
- Repeat step 2 on the other side of the mouth.
- Remove the swab from mouth, being careful not to touch teeth, tongue, or other surfaces.
- Allow the swab to air dry to prevent growth of damaging microorganisms that could grow in a moist environment. The original permeable (paper) wrapper or the original perforated cap or tube is a safe drying environment. Once thoroughly dry, package for secure transport. For transport in a DNA preservative solution, the swab should be immersed in the preservative immediately following collection. Process immediately as per laboratory standard procedures or use a transport kit if provided.
For additional support, please refer to our infographic outlining this procedure.
How are swab-based genetic tests used?
Genetic swab tests provide information that is used in a wide range of applications today. Some of those uses are outlined below.
Clinical genetic tests are ordered by a physician to understand a specific medical condition. This might include predictive tests, which indicate a person’s predisposition for developing a certain disease. A carrier screening test can reveal whether a person carries a genetic disorder that may be passed down to a child. Newborn genetic screening can reveal growth and developmental issues that may arise due to genetic abnormalities. A pharmacogenetics test can help determine the best medication, and its corresponding dosages, to best treat a patient.
Direct-to-consumer genetic testing allows people to unlock their genetic information without involving a healthcare provider. The growth in this type of testing has made it easy for people to seek out personalized information about their health, their ancestry or kinship, and lifestyle factors.
It is important that consumers understand that a negative result from one genetic test does not necessarily mean they are not at risk for a particular disease or condition. Medical results are best discussed with a qualified healthcare provider.
Risks of commercial genetic testing
As commercial genetic testing costs drop, the direct-to-consumer genetic testing business has grown exponentially. As companies have gained more DNA data, potential risks have begun to emerge. Chief among these risks is the efficacy of these tests. As the FDA points out, these direct-to-consumer genetic tests come with varying levels of evidence that they perform in accordance with their claims. What’s more, not all of these commercial tests are reviewed by the FDA.
Another risk is to your privacy. Among other issues, companies handling this sensitive data have proven at risk of hacking. Companies are also finding that law enforcement and the federal government have interest in securing access to their DNA databases to help solve cases. Many of these commercial genetic testing companies have policies in place for sharing genetic data with third parties. The rules in this space are still evolving, but there is limited legislation at present to protect your genetic data in this space.
The Human Genome Project opened up the door for new levels of research into disease states and medical conditions. Researchers launched a similarly structured Human Microbiome Project that explored the way microbes within the body impact our health. From this emerged a need to sample from multiple sites of the body to understand healthy microbes, risky microbes, and the imbalance that is the tipping point. The project determined that microbes contain more genetic diversity than their human hosts. Understanding microbes’ genetics provides further insight into human health and wellness.
How Puritan can help
We at Puritan Medical Products have contributed to this expanding science through our extensive line of swabs and single-use products. Over the years, more and more researchers have expressed interest in using our swabs for the sampling of genetic material.
The commercial testing world has developed extensive panels that may require a fair amount of DNA. The cost of our swabs is affordable enough that sampling with one or two swabs is an option. Some customers within the genetics space package two or more of our swabs in their kits to account for sampling and banking. As technology advances, the cost of analysis has declined, thereby allowing for an individual’s sample to be comprised of more than one swab.
We are eager to talk to you about our line of products, corresponding literature, and customization capabilities to make our swabs part of your daily workflow. If you’re ready to place an order, or simply want to determine the best swab for your specific needs, we encourage you to reach out to the Puritan sales team today.