The Genetic Link welcomes guest blog authors. Our first guest submission is from Rachel Dvoskin, Ph.D., with the University of Florida. We thank Rachel for her submission and welcome her as a guest author. I hope you enjoy this article.
At the department of Anthropology and Genetics Institute at the University of Florida, we study genetic variation in modern human populations to answer diverse questions ranging from the route early humans took when they first migrated out of Africa to the underlying causes of racial differences in susceptibility to complex diseases. To explore these varied aspects of human evolutionary history, we spend a lot of time figuring out how to collect DNA from a large number of volunteers. With today's genetic technology, all that's necessary is to obtain a small blood or saliva sample from each of our participants -- a task relatively easy to do in concept but quite a bit more challenging in practice.
When doing this kind of research -- whether at home or abroad -- we come up against a bunch of potential hurdles. Language and cultural barriers can make it difficult to explain what we are doing and what we are hoping to gain from our participants. As a blond, female, American anthropologist who could hardly say hello in Arabic, Dr. Connie Mulligan never expected collecting DNA samples to be as easy as it was in the remote corners of the Middle Eastern country of Yemen. The Oragene•DNA saliva collection kits are non-invasive, simple to use, and even include illustrated instructions right on the package, making their use completely self-explanatory. We had no problem collecting saliva samples from hundreds of Yemeni participants, including many women garbed in the full abaya.
Furthermore, the lack of need for freezing or refrigeration allowed us to travel around the country without worrying about storage conditions. The disks are small and self-contained, and we did not have to carry any separate buffers or processing equipment. The saliva collectors made it possible to obtain large volumes of high-quality DNA. This DNA is used to answer questions about the movement of early humans out of Arabia. We will soon be able to thank our Yemeni study participants by telling them something new about their country's role in the peopling of the world.
We are now gearing up to do a study here in our own backyard in Florida. In collaboration with cultural anthropologists, we are studying how genetic factors and the social environment interact to influence a person's susceptibility to hypertension. Because we are interested in racial disparities in health in the U.S., we chose to conduct our community-based study in Tallahassee, a city with a long history of racial tension and civil rights activism. Given the potential for misuse of genetic information and the rare but horrific cases of unethical medical experimentation on oppressed minorities, it is understandable that people would be fearful or reluctant to participate in a study of this kind. We expect, however, that the non-threatening nature of the Oragene•DNA saliva collection kits will put people at ease and increase participation.
We value highly this simple, non-invasive technique because unlike many studies in which researchers opportunistically collect samples from people who are already being treated in a hospital or clinic, we are instead approaching regular people in their homes -- trying to get a representative sample of all types of people within a community. We think that the more benign and user-friendly the collection techniques, the more useful they will be for our research and for future work with minority groups and previously unsampled populations. This includes people in regions where lab or storage facilities are scarce as well as populations that have been overlooked or underrepresented in medical and health research.
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For the second year in a row, DNA Genotek collected DNA samples onsite at the National Walk for Epilepsy on March 27th, 2010 in Washington, DC. Our participation in this event supports the efforts of the Columbia University Family Studies in Epilepsy Program and their study which is designed to identify genes that play a role in causing epilepsy. While at the Epilepsy Walk, I had the opportunity to interview Janine Rose, Research Associate at Columbia University about their epilepsy research and how Oragene•DNA has helped their study. You can view the recorded interview here or read the transcript below.
Shauna White, DNA Genotek: I'm here with Janine Rose with the Columbia University Family Studies in Epilepsy and we're here at the National Walk for Epilepsy in Washington DC in March of 2010. Janine, thanks for joining us today, it's great to have you here.
Janine Rose, Research Associate, Columbia University Family Studies in Epilepsy: Thanks for having us.
Shauna: Can you tell me about the research study you're working on and what you hope to achieve with it?
Janine: Yes. We are a genetic research program at Columbia University and what we're looking to discover are the genes that affect certain types of epilepsies, childhood epilepsies, specifically idiopathic generalized epilepsy and idiopathic generalized epilepsy is a type of epilepsy that doesn't have an origin, a set origin. So we are looking to recruit subjects for this particular kind of epilepsy and by DNA saliva, we look at what these genes do and further identify in hopes that further down the road, finding a cure or new therapy for these patients.
Shauna: Why did you decide to collect DNA with saliva samples?
Janine: For many reasons. Before, and that was before my time (with the study) they would collect blood as you know it is less likely to find subjects willing to go through that donation. It is very difficult to store, it needs to be refrigerated, there can be pain, there are very many reasons, it can be messy. I think that the saliva is small and portable and light and extremely practical - a super easy way to collect and people are delighted to participate and enchanted to look at how they are made and it's a great conversation piece. It breaks the ice every time so we are very happy with the product. We use it very willingly.
Shauna: This brings me to our work here this week at the National Walk for Epilepsy. When you heard about this event, you obviously saw a way to help your study. What did you think about and why did you get involved?
Janine: Well, I was involved the first time last year which I participated with Columbia University Family Studies. The year previous I came as a participant and I noticed at the event how many sponsors they had and I thought well, why not us? I thought that as direct sponsor, I would like for us to be involved because I saw a real number of people who would definitely embrace this project and people that would either be willing to participate or donate in some way and support what we are doing. And finding people is what this is all about. At the moment we use mostly physician referrals to find our subjects so I thought why not come directly here and show them what we're doing at Columbia. Even if they're not qualified to join the study, if they don't have epilepsy, they could at least be an unaffected control which is what we're hoping to collect today. If we get the funding to go on with the study, then further down the road it's our goal to include other types of seizures if we get funding to do so.
Shauna: How has DNA Genotek helped you with this project?
Janine: I have to say that we wouldn't be here today if it weren't for DNA Genotek. We are very very grateful for the help that you've provided us. First of all, getting the booth, getting the space, helping us organize the event. It's been a real sharing experience for both of us. I think it's a very good fit. People see exactly how we get the DNA and having them (DNA Genotek) personally on hand here on the spot to have them answer any questions they may have about the product or project is great. We're very very pleased.
Shauna: Tell me a little about the future of the study. When do you think you'll have some results? When will people know the outcome of this study?
Janine: It's very difficult to predict - to put a time period on such a momentus study because every time you find something new it takes you in a new direction. With our funding, it allows us to go so far. As more funding comes along, we hope to increase our study. Our investigation is about how epilepsy comes. Of course we're working to point very specifically at what can be done at the appropriate times. For the moment, we're still at the investigation stage. But we found a true confirmation of genetic information. We feel that is a very good study both for reasons of our specificity. We are very strict about our criteria - our inclusion criteria. This allows us to know exactly what we're looking at. We don't cloud it with other things.
Shauna: Thank you so much for taking the time today. Best of luck with the National Walk for Epilepsy and best of luck with the study.
Janine: Thank you, thank you for having us.
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Saliva is one of the most accessible of our body's bio-fluids making saliva sample collection easy and non-invasive. Saliva also harbours a wide spectrum of genetic data that can be used for genetic research and clinical diagnostic applications. It might surprise you to know that much confusion surrounds the source of genomic DNA in saliva. It certainly came as a surprise to me when I met with a number of customers on a recent trip across the continent.
In recent years, we've seen a marked increase in the desire to understand the genetic basis of disease as a means to improve patient diagnosis and treatment. While the range of research spans the spectrum of known diseases, all genetic research projects share one vital building block in that they require DNA as a starting point. Traditionally, DNA has been extracted from white blood cells extracted from whole blood. White blood cells are an excellent source of large amounts of high quality genomic DNA. However, because of the invasiveness and cost of obtaining, transporting and processing blood samples, researchers and clinicians have long searched for alternative methods. Over the past few years, saliva has become recognized as a very important and reliable alternative to blood samples for genetic research, clinical diagnostics, pharmacogenomics and more. What exactly is it that makes saliva such a good alternative to blood for genetic applications? It all comes down to the source of DNA in saliva.
Surprisingly, many people I spoke with assumed the source of DNA in saliva is strictly buccal epithelial cells, however, studies show that up to 74%(1) of the DNA in saliva comes from white blood cells. Yielding virtually the same amount of DNA per volume and the same DNA quality, saliva can be considered as good and as reliable a source of DNA for a wide variety of genetic applications. One thing to note however is that not all oral samples are equal.
Oral Sample Collection Methods
There are three methods for collecting oral DNA samples - dry, wet and non-invasive procedures.
Dry procedures require the donor to insert a cytobrush, buccal swabs or other collection device into the mouth where tissue is scraped from the gum and cheek surfaces. These methods collect primarily buccal cells that are lower quality and are potentially contaminated with bacteria from the teeth and other surfaces.
Wet procedures include swishing liquids in the mouth and spitting them into a collecting vessel. Mouthwash, which can contain a high percentage of alcohol content, is typically used for this procedure. The protocol, which can request the donor to swish for up to one minute, can burn and be uncomfortable for the donor. Mouthwash is also designed to remove bacteria from teeth and other mouth surfaces which results in a high amount of bacterial content being released into the sample.
Both the dry and wet methods described above do not prevent bacteria from growing in the sample and do not actively stabilize DNA. These methods also involve the insertion of an object or substance into the mouth. While it is arguably less invasive than venipuncture, it does not quite meet the definition of ‘non-invasive'.
Completely non-invasive collection using Oragene•DNA is a simple, painless procedure that requires the donor to spit into a collection device. After providing a sample and closing the device, a solution is released from the cap to mix with the saliva. This solution stabilizes the DNA for long-term storage at room temperature and prevents bacterial contamination. There is no requirement to insert an object or substance into the mouth - the user simply holds the tube and spits into it. In my opinion, that's the true definition of non-invasive DNA collection. As we like to say at DNA Genotek, "Just Spit, That's It!"
The high quality and high quantity of DNA collected with Oragene•DNA provides an excellent option for applications ranging from the largest molecular epidemiologic studies in remote locations, to bio-banking or HLA typing and even a single personalized medicine test.
Did anything in this article surprise you? Leave us a comment and let us know.
Interested in learning more about non-invasive DNA sample collection with Oragene•DNA? Register for our live webinar on April 21, 2010 at 11:00am ET.
References: (1) Thiede, C. et al. Buccal swabs but not mouthwash samples can be used to obtain pretransplant DNA fingerprints from recipients of allogeneic bone marrow transplant. (2000). Bone Marrow Transplantation. 25(5): 575-577.)
Recent statistics suggest cancer mortality rates are declining due to better prevention, early detection methods and improved treatments, yet so much remains to be done. With cutting-edge research continually pushing the boundaries of science and discovery, it is not surprising that an increasing number of cancer researchers are turning to the newest tool in the DNA collection toolbox - DNA from saliva.
Saliva has traditionally been overlooked as a source of DNA for cancer research but Oragene•DNA has changed that. What makes saliva-based DNA collection with Oragene•DNA so important to cancer research? Saliva provides a non-invasive means of collecting high quality and quantity DNA that is stable at room temperature, which makes samples easy to collect, store and ship. With geographically dispersed subjects, scientists can even mail Oragene•DNA kits to participants, who follow the directions, and return the saliva samples to the laboratory for analysis using standard mail service. Cancer research groups around the world are now focusing on the potential of this common bodily fluid for detecting the genetic link to the disease and studying genes without the need for a blood draw.
Now that researchers trust that DNA from saliva using Oragene is equivalent to DNA from blood, the door is open to populations they would normally not have access to. Collecting blood is very invasive and not a practical procedure for children or individuals that can't give blood for religious or medical reasons or for those who do not have access to a collection center. Compliance rates improve with saliva resulting in the collection of more samples.
Breast cancer researchers at the University of Arkansas for Medical Sciences (UAMS) are hoping to answer some important questions with DNA from saliva. They are building a repository aimed at studying breast cancer risk and treatment. Their goal is to collect 40,000 samples over a five year period. They want to learn why one individual is affected by breast cancer but another is not. Or why two women with the same disease respond differently to the same treatment. What inherited factors contribute to the disease? What environmental factors contribute to breast cancer? How do inherited and environmental factors interact to cause the disease?
The researchers decided to use Oragene•DNA because saliva-based collection offered them a non-invasive, easy-to-use and reliable method to collect the large number of DNA samples they need. The kit stabilizes DNA at room temperature until it can be analyzed, which eliminates storage and logistical issues. In addition, Oragene•DNA provides the high quality, high quantity DNA required for establishing the bio-repository. The reliability and ease-of-use also enabled on site event-based collections bolstering the donor group by thousands in a single day.
In another example, researchers at Inserm (I'Institut national de la santé et de la recherché medicale) in France are conducting a study on thyroid cancer using Oragene•DNA. The primary goal of the project is to better understand the risk factors associated with the development of thyroid cancer. The project will establish a DNA bank to permit future studies of candidate genes linked with thyroid cancer and to study gene-environment interactions. The team evaluated the possibility of collecting blood samples, buccal swabs or Oragene•DNA. After evaluating all options, they decided to use Oragene•DNA as it was the only method that allowed them to overcome their main challenge of maximizing compliance rates for geographically dispersed participants.
So, is saliva-based DNA collection the newest tool in the fight against cancer? Enabled by Oragene•DNA, the answer is a definitive ‘yes'. Cancer research with saliva DNA has definitely come of age.
Do you have thoughts you'd like to share on this topic? Leave a comment and let us know what you think. Don't forget, The Genetic Link has subscription options; you can follow by email or RSS feed.
In November of 2009, DNA Genotek announced their new global partner program. The program is designed to help partners scale and differentiate themselves in the genomics market. The DNA Genotek Partner Program is open to technology vendors as well as genomics and diagnostic service providers who have demonstrated capabilities in providing services for our sample collection products including Oragene●DNA, Oragene●RNA, Oragene●ANIMAL and/or Performagene•LIVESTOCK.
The DNA Genotek Partner Program is designed to help connect our customers with an approved service provider to process Oragene samples. Key to the program is our ability to provide customers with confidence of compatibility with a full range of downstream processing and analysis solutions offered by multiple technology vendors.
Since the launch of this program, 15 new companies have successfully completed validation of DNA Genotek products with their service or product offering. These companies are from a variety of countries and are available to help our customers process DNA saliva samples.
Here is the list of the newest companies to complete their validation testing:
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Affymetrix (US)
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Beckman Coulter Genomics (US)
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BioServe Biotechnologies, Ltd. (US)
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Center for Applied Genomics - Institute of Genomic Medicine (UK)
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chemagen AG (Germany and US)
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Clinical Reference Laboratory, Inc. (US)
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Geneservice (UK)
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Genetic Repositories Australia - GRA (Australia)
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Génome Québec & Montreal Heart Institute - Pharmacogenomics Centre (Canada)
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Gen-Probe - Tepnel Pharmaceutical Services (UK)
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Q Chip Ltd. (UK)
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Tecan (US)
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The Centre for Applied Genomics - TCAG (Canada)
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UK DNA Banking Network (UK)
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Wellcome Trust Clinical Research Facility - Genetics Core (Scotland)
For more information on each of these partners and what they offer, see the partner section of our web site.
Congratulations to these companies for completing their testing so quickly. While we're excited about this positive response to our program, we have many more companies from around the world currently working on validations with our products. Be sure to stay tuned to The Genetic Link for the latest updates on new DNA Genotek partners.