In April 2003, Nature Magazine published the final release of data from the completed Human Genome Project. The findings were remarkable, and the list of contributors was extensive. But as ground breaking as this was for those involved, the general public still believed this was quite a fanatical science. The development of the entire human mapping, genotypically, still had not provided real evidence in correlation to disease outbreak or phenotypical differences. And while this milestone lead to the identification of genomes from other species, there was still no tangible meaning to it all.
Today, in 2015 the story is much different. As with all science, the mapping of the Human Genome Project laid out the groundwork for like-minded researchers to develop focused studies to reveal possible genetic linkages to specific diseases. As science goes, we start out general and make our way to a possible correlation - between genotypic state and phenotypic outcome. Researchers are beginning to unfold very profound data that links certain genes to certain outcomes, whether good or bad. And as a result this has led to some very significant milestones since 2003.
A simple internet search of genetic screening will reveal a plethora of companies offering a wide range of screening tests for rare and common conditions. A predictive test can reveal a predisposition to developing a certain disease. A carrier screening test can reveal whether a person carries a certain gene that may be passed down to a child who thus may carry the gene and subsequently develop the disorder themselves. Newborn 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.
The trajectory of science leads to the commercialization of tests as products. We are becoming well versed with companies who are embarking on large-scale screening for diagnostic testing and/or ancestral information. And while these are still relatively novel products, the information from mass sampling feeds back into their biobank for further research. Commercialized products can be purchased through a physician and thereby monitored and consulted by the physician. However, genetics testing that are not so disease-oriented may be purchased directly by the consumer.
Likewise, as science evolves so too does the technology it rests upon. We have seen advancements in genetic tools that have taken us from limited analysis to highly complicated and mass automated systems, with never ending data output. Together with large sample databanks we are able to investigate with far more statistical significance than we ever thought.
In parallel with the Human Genome Project (the genes that make us who we are) we have now devoted time on the Human Microbiome Project (the microbes that help make us who we are). And so emerges the necessity to sample from multiple sites of the body to determine healthy microbes, risky microbes, and the imbalance that is the tipping point.
How we can help:
We at Puritan Medical Products have contributed to science by way of 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. While blood is a common sample type for genetic material, data has shown that buccal cells are 100% concordant with genetic material from blood. So as it turns out, although blood tends to be highly accessible during clinician visits, the non-invasive alternative of collecting buccal samples has proven to be a reliable one. Our wide range of flocked and foam swabs have been widely used in the market, both of which have shown to provide a great deal of DNA for analysis. Researchers have utilized our swabs for the genetic sampling of humans and animals of all ages.
The size of our swabs makes them ideal for newborn screening and while soft, they still collect enough buccal cells to make up for the lack of saliva that may or may not be present in the salivary glands during the first week of life. Likewise, family planning has become easier with the use of mailable collection devices such as our swabs that can be sent to a home for unsupervised, non-invasive collection from two individuals who aim to provide the best life for their future child. The commercial testing world has developed some fairly extensive panels that may require a fair amount of DNA. But the cost of our swabs is affordable enough that sampling with one or two swabs is an option.
In fact some of our customers within the genetics space have packaged two or more of our swabs in their kits to account for sampling and banking. As technology advances, the cost of analysis is declining, thereby allowing for an individual’s sample to be comprised of more than one swab.
We are starting to work with several groups who are interested in the human microbiome sampling, as we have an extensive line of swabs ideal for oral, cervical, skin, gastro testing and more. As our reputation supersedes us we are continuing to offer our swabs to US-based companies who are broadening their sample population beyond that of North American, as well as to international companies. The ability to mail our swabs with ease has promoted international growth of our product line, as well as international collaborations between companies and labs (and their residing population base) spread across the world.We are eager to talk to you about our line of products, corresponding literature, and highly sophisticated customization capabilities to make our swabs part of your daily workflow. Contact us today!