At DNA Genotek, we recently learned the details of study being conducted by Generation Scotland called The Scottish Family Health Study. We wanted to share some of this information with you here on The Genetic Link.
Study overview
Generation Scotland is creating an ethically sound, family and population-based resource to identify the genetic basis of common complex diseases. The Generation Scotland Scottish Family Health Study is a large-scale, long-term project, which aims to find out more about common illnesses, such as heart disease and stroke. It is known that heredity plays a role in these diseases. By collecting medical and genetic information from families, and by following their health over the coming years, Generation Scotland hopes to find out which lifestyle and inherited factors are connected with higher or lower risk of these illnesses.
Main challenges
The Generation Scotland Scottish Family Health Study aims to collect phenotype information and blood for biochemical analysis and DNA isolation from 25,000 people living in Scotland. As the name suggests, the Scottish Family Health Study is based on families, so they need at least one sibling and preferably other family members (aged 18 or over) as well. The inclusion of as many family members as possible, especially from large families, will increase the power of the study. However, for a variety of reasons, not all participants can make a clinic appointment. Collecting DNA samples from relatives who live in geographically dispersed locations may not be possible within a clinic setting. Others may be inconvenienced by a visit to the clinic. To overcome this barrier to compliance and to maximize the number of study participants, Oragene•DNA kits are mailed to such participants, with instructions for self-collection.
To read the full case study on this study and how Oragene•DNA helped overcome their recruitment challenge, please click here.
I hope you enjoyed learning more about this study. Be sure to subscribe to The Genetic Link so you don't miss any of our articles.
If you’re a regular reader of The Genetic Link, you’re familiar with our on-site DNA collections at events like Spit for the Cure, the National Epilepsy Walk, championship dog shows, international music festivals and more. Oragene•DNA is ideal for collecting at both indoor and outdoor events because it is non-invasive, stable at ambient temperature and easy to use by anyone.
Each event-based collection is unique in that it targets different donor profiles and has significantly different recruitment goals. They do have one thing in common – each has been very successful. We’re proud that our product allows researchers and clinicians to conduct event-based collections to boost their recruitment numbers much more quickly than would otherwise be possible.
We continue to be amazed at how creative our customers are when it comes to reaching their recruitment goals. I have one more such event to tell you about.
At the end of this month, genetic researchers at the University of Minnesota (department of pediatrics) will be collecting DNA samples at the Minnesota State Fair which runs from August 26-September 1 in St. Paul, MN. The researchers will be using the newest product in the Oragene•DNA family. The Oragene•DNA Assisted Collection Kit (OG-575) is designed to collect DNA from saliva using absorbent sponges. It is intended for use with donors that cannot or choose not to comply with blood collections and is ideal for children or others who are unable to spit. The research team is hoping to recruit 500 children and their parents to answer health questions, agree to height, weight and blood pressure measurements and provide DNA samples.
The project is part of the “Gopher Kids” study which aims to learn more about what genes are involved in making a child grow and develop normally. This includes mapping the genetic makeup of normal, healthy children in hopes of identifying the genetic defects that predict chronic diseases and other health problems.
The fair is a testing ground for the researchers. The research team knows it can be difficult to find 500 children to participate in research and they view the State Fair as an exciting opportunity to help them reach their goals. With more than 1.7 million visitors, they stand a very good chance of meeting their objectives and these venues are always enticing for children.
We wish the University of Minnesota research team the best of luck with their involvement at the State Fair and we look forward to hearing about their experience. We hope to share the results of this unique event with you in a future article here on The Genetic Link.
Have you collected DNA at an event? Are you considering event-based collections to help meet your recruitment goals? Leave a comment and let us know or check out this document for suggestions on how to succeed with event-based collections.
The number of clinical trial and epidemiological studies collecting genomic DNA from a large number of individuals is increasing rapidly. There are many options for obtaining these biospecimens including blood collection, saliva collection, tissue and more. Yet, recruitment is perhaps the most challenging part of any scientific research study. Potential study participants are often reluctant to participate because they are needle phobic, do not want to travel to a specific location to participate in the collection process or are otherwise inconvenienced by the study criteria. Problems with recruitment can disrupt the timetable for a research project, preoccupy staff and, ultimately, result in a trial being abandoned (Ashery & McAuliffe, 1992).
At DNA Genotek, we set out to discover how several successful studies have been able to meet their recruitment and compliance goals in a timely way and to summarize their success criteria in a report. We accomplished this through telephone interviews and by reviewing published research. Many of your peers provided the kind of insight that previously had not existed. The result of this work is the research report titled: Overcoming challenges in DNA sample collection - How epidemiological researchers are maximizing compliance rates with non-invasive DNA self-collection.
This report will help you discover:
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How successful researchers are achieving dramatically higher compliance rates (70.52% to 95% in the first phase of collection)
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What processes (from qualifying participants to analyzing results) most contribute to higher compliance rates
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Whether centralized or mail-based collection impacts compliance rates
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How to overcome challenges to maximize compliance
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How to take a good compliance rate and make it an outstanding compliance rate
- What issues most affect compliance rates
If you're considering starting a clinical trial or epidemiological study, it's our hope that this report will help you build the criteria for successful DNA collection and for maximizing your compliance rate. If you're already working on a study, feel free to examine what these experienced researchers are doing (and use this study to help others).
Want to learn more about how to meet your recruitment and compliance goals?
Download this free report to learn best practices for recruitment and compliance from top research organizations.
Would you like to see us publish more reports like this? Leave a comment and let us know.
This month, PLoS ONE published a new research study that I think will interest readers of The Genetic Link. The study, titled "Array-Based Whole-Genome Survey of Dog Saliva DNA Yields High Quality SNP Data", was written by Jennifer S. Yokoyama, Carolyn A. Erdman and Steven P. Hamilton of the Department of Psychiatry and Institute for Human Genetics, at the University of California, San Francisco. The study is interesting for several reasons.
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The study highlights the availability of array-based genotyping platforms for canines but notes that they require large quantities of high quality genomic DNA.
- The authors state that there is an increasing demand in the research and clinical communities for larger sample studies to ensure statistical significance.
- The study notes that DNA sampling can become the limiting factor when studying canine behavioural traits.
The authors evaluate the performance of whole blood and Oragene•ANIMAL DNA collection kits for GWAS studies. DNA from all samples was analyzed using Illumina's Infinium Canine SNP20 genotyping array. The researchers' experience suggested that owners were more conducive to returning Oragene•ANIMAL kits than to agree to a blood sample. Surveys sent out with the kits also indicated that the owners found the collection to be very easy. The sample collection was successful for all participants and the process took less than 10 minutes.
High-throughput whole genome array genotyping was performed with outstanding results. The samples achieved very high overall genotype call rates (>99.5%) with very good concordance. They found that on average, genotypes from DNA derived from blood and saliva from a single dog matched >99.9% of the time*.

The researchers found the Oragene•ANIMAL DNA collection kits very favourable due to their ease-of-use and non-invasive approach, making them a preferred method of sample collection for future studies. According to the researchers: "Our results demonstrate that saliva collection from dogs is facile, convenient, and yields large amounts of high quality DNA that provide excellent performance on high-throughput whole genome arrays."
With Oragene•ANIMAL, researchers will be able to collect the number of samples required for GWAS studies and they can be confident of the quality and quantity of the DNA and its performance for array-based studies.
Want to read the full details on how Oragene•ANIMAL performed compared to whole blood in this study? Click here to link to the full report.
*Source: Yokoyama JS, Erdman CA, Hamilton SP (2010) Array-Based Whole-Genome Survey of Dog Saliva DNA Yields High Quality SNP Data. PLoS ONE 5(5): e10809. doi:10.1371/journal.pone.0010809
Oragene•DNA is well known for a number of characteristics - ease of use, non-invasive collection, high quality and quantity DNA and, of course, long term storage at ambient temperature. It's often difficult for researchers and clinicians to believe that storage at ambient temperature is possible for DNA samples. We are frequently asked about this specification of our product. However, studies using Oragene•DNA prove that customers can rely on the ability to store Oragene•DNA/saliva samples at ambient temperatures when collecting samples in remote locations, via the mail, or for event-based recruitment. The figure to the right shows an agarose gel electrophoresis of DNA extracted from Oragene•DNA/saliva samples stored at room temperature for 5 years.
The preservation and storage of DNA samples is an important consideration for molecular epidemiology, clinical trials, and population studies. To ensure your success, we have created the following best practices for the long term storage of unpurified saliva samples collected with the Oragene•DNA Self-Collection Kit. We will also highlight the rationale for these recommendations.
Storage at room temperature
DNA from saliva is stable in the Oragene•DNA collection tube for up to 5 years. This stability is achieved as a result of the kit's proprietary reagents that inactivate enzymes in saliva and minimize chemical hydrolysis of DNA. These reagents also prevent the growth of bacteria in the sample.
Frozen storage
Oragene•DNA/saliva samples may also be stored at temperatures below -20°C. Samples may undergo at least three freeze-thaw cycles with no evidence of DNA degradation. Although the Oragene•DNA collection tube is designed to ensure a tight seal, frozen storage may further reduce evaporation of the liquid medium during long term storage.
Aliquots in microcentrifuge tubes
The Oragene•DNA collection tube is designed for user friendly saliva collection from donors. However, in the lab, storage in more compact tubes may be preferable. To reduce storage space, an Oragene•DNA/saliva sample which has been heated at 50°C for a minimum of 1 hour may be split into 4 aliquots of 1 mL each and stored in 1.5 mL screw-top microcentrifuge tubes. It is advisable to use tubes with O-rings to ensure a tight seal and minimize long term loss from evaporation.
We hope these best practices will help you optimize the long term storage of all your unpurified Oragene•DNA samples. If you like this article, watch for an upcoming blog post on the best practices for long term storage of purified DNA from Oragene•DNA samples. If you want to be notified of our blog posts, be sure to subscribe to The Genetic Link.
Was this article useful? Let us know what you think by leaving a comment.
Today, DNA Genotek announced our involvement in a significant pilot project with the UK's largest bone marrow registry, the Anthony Nolan Trust. The details of this exciting project follow:
DNA Genotek, a leading provider of products for biological sample collection, stabilization and preparation, today announced that The Anthony Nolan Trust, the UK's largest bone marrow donor registry, has selected Oragene•DNA for a pilot project aimed at increasing donor recruitment. Bone marrow donor registries, also known as HLA registries, use HLA DNA testing to match leukemia patients with prospective donors. The pilot project will determine if donor recruitment can be increased significantly with the use of non-invasive, saliva-based DNA collection compared to blood collection.
The Anthony Nolan Trust has traditionally required all registry participants to have a blood sample collected either at their doctor's office or by phlebotomists at recruitment clinics. Under this pilot project, the potential donor provides a saliva sample without any assistance (for example, at home) and mails the sample back through the regular postal system, thereby facilitating and dramatically reducing the cost of the entire process. DNA samples collected with Oragene•DNA are easier, safer, and faster to collect than other methods and remain stable at ambient temperature for transport and storage prior to being analyzed at the lab.
There are currently over 400,000 people included in The Anthony Nolan Trust's registry, but many more participants are needed. 70% of patients needing a transplant cannot find a compatible match from within their families and rely on registries to find an unrelated donor for life-saving procedures. Through using Oragene•DNA, The Anthony Nolan Trust expects an increase in donor recruitment and therefore the likelihood of matches between those patients needing bone marrow transplants and potential donors held in their database.
Ailsa Ogilvie, director of operations at The Anthony Nolan Trust stated: "We have historically recruited new people to our register using blood samples, but our early laboratory results confirm that Oragene•DNA provides the high quality DNA that we need. We are optimistic that this pilot project will simplify the recruitment process and ultimately increase the number of people willing to join our register. Following the successful completion of this pilot phase, we hope to switch completely to using saliva samples to recruit new donors to our register via Oragene•DNA from late 2010."
"By streamlining the sample collection and transportation procedures, Oragene•DNA enables The Anthony Nolan Trust to focus on its primary goal of increasing donor recruitment", said Ian Curry, president and CEO, DNA Genotek, Inc. "Oragene•DNA provides a reliable, cost-effective, and scalable method that is ideal for bone marrow donor registries worldwide. Our product is easy to use, safe to transport through the mail and remains stable at ambient temperature for long periods of time. What we learn from this pilot project will help chart the future for The Anthony Nolan Trust and we are certainly proud to be part of this effort."
Note: The pilot project referenced in this press release is currently available in limited areas in the United Kingdom. It is not expected to be available nationally until the summer of 2010.
Learn more at the European Immunogenetics and Histocompatibility Conference (EFI) in Florence, Italy May 17th when Alasdair J. McWhinnie of the Anthony Nolan Trust will present a session titled: "Saliva specimens collected with Oragene are a reliable alternative to blood and buccal swabs for large scale DNA extraction and HLA typing of recruits for hematopoietic stem cell donor registries." Register here.
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.
Did you like this guest authored article? Leave a comment and let us know.
DNA Day commemorates the successful completion of the Human Genome Project in 2003 and the discovery of DNA's double helix by Watson and Crick in 1953. The Human Genome Project was a 13-year project coordinated by the U.S. Department of Energy and the National Institutes of Health. The primary goal of the project was to determine the sequence of chemical base pairs which make up DNA and to identify the approximately 20,000-25,000 genes of the human genome. As a result of the Human Genome Project, a Congressional resolution designated April 23 as the National DNA Day.
DNA Day is much more than a time to honor historical achievements - it's a day filled with opportunities for students, teachers and the public to learn how the exciting field of genome research touches all of our lives.
This year, for the first time, DNA Genotek is marking DNA Day celebrations with a new program with a focus on helping students in high schools, colleges and universities learn more about DNA collection and purification. The program, titled DNA Genotek's Science Education Program, will offer Oragene•DNA self collection kits at no charge to classrooms in accredited high schools, colleges and universities for teaching purposes.
Our goal is to make it as easy as possible for educators to use Oragene•DNA kits as a teaching platform in the classroom. The saliva-based collection method allows students to collect DNA and experiment with purification methods in the classroom, facilitating a greater understanding of DNA and its importance in health and disease. DNA Day celebrates the promise DNA holds in unlocking discovery that will impact global health and is the ideal time to introduce this program.
We're very excited about this program and its potential to have a positive impact on science education. Accredited high schools, colleges and universities can submit an online application form to receive these kits for teaching purposes.
If you want to learn more about DNA Day 2010, the best resource is the official DNA Day website at the National Human Genome Research Institute (NHGRI). There you'll find news, resources and tools having to do with genetics.
If DNA Day inspires your children (or you) to learn more about the ins and outs of the genome, let us know. We'd love to hear how this special day had an impact on you.
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.
Would you like to see more articles like this one? Leave us a comment and let us know.
Today, DNA Genotek announced that our Oragene•DNA self collection kit (OG-500), has been selected as a winner in the 2010 Medical Design Excellence Awards (MDEA) competition, the premier awards program for the medical technology community.
As an all-in-one system for the collection, stabilization, transportation and purification of DNA from saliva, our flagship Oragene•DNA product has been rapidly gaining acceptance as the preferred method for non-invasive DNA collection by research institutions and commercial organizations around the world. Oragene•DNA enables our customers' research and genetic analysis programs with an aim to advance health research and healthcare delivery.
Our status as a winner of the prestigious Medical Design Excellence Awards competition highlights our commitment to excellence in product design and ease of use. MDEA is the only awards program that exclusively recognizes contributions and advances in the design of medical products. A comprehensive review of the entries was performed by an impartial, multidisciplinary panel of third-party jurors with expertise in biomedical engineering, human factors, industrial design, medicine and diagnostics.
I am proud to share this award with our product development partner, DW Product Development Inc. and with our dedicated employees. Their outstanding focus on quality for all aspects of our business is what makes awards like this possible.
Interested in trying this product? Click here for an evaluation kit.