DNA Genotek's Sample Collection Blog

Throughout history, women have influenced and shaped our views and knowledge of science from all disciplines, including human genomics. The research of radioactivity by Dr. Marie Curie (1867-1934), the discovery of the XY sex-determination system by Dr. Nettie Maria Stevens (1861-1912), and the co-discovery of the genetic material of life by Dr. Martha Chase (1927-2003), has shaped genomics and the influence of incredible women like these is undeniable.[1] In addition, many feel that much of the credit for modeling the structure of the DNA molecule should rightfully go to a woman named Rosalind Franklin and not Watson and Crick. These women have brought their love of genetics to life and shared their scientific discoveries with the world.

Congenital anomalies and genetic disorders are the leading cause of death in children less than ten years old and affect about six percent of live births. For children with suspected genetic disorders, it is crucial to establish an early etiologic diagnosis for a prompt implementation of precision medicine and to enable optimal outcomes to guide clinical decisions. The challenge, however, is the lack of etiologic diagnosis.

Pharmacogenomics is a growing field that tailors dosage and drug choices based on patient genetic profiles with the potential to benefit millions of patients with personalized medical care while changing the world of medicine as we know it. One of the key obstacles faced by those working in pharmacogenomics is DNA sample collection. Traditionally, clinicians have used blood samples for DNA collection which are costly (requiring phlebotomy and cold chain logistics) and invasive (hindering patient compliance), making the clinical integration of pharmacogenomics difficult. Many researchers are turning to the idea of buccal and/or saliva swabs as a less costly and non-invasive alternative to DNA collection. However, the question is are these sample types of high enough quality for analysis?

Every year since 2009 we’ve picked our top 10 list for the year. People often ask, what does it take to get on this list? It’s a reasonable question — some of our previous picks haven’t yet reached widespread use, while others may be on the cusp of becoming widely adopted. What we’re really highlighting is something that we think has the potential to have either a long term or profound effect on our lives. We aren’t always right but we find it interesting to reflect on the previous year and highlight our top 10 items.

Russell Schachar, MD, FRCP(C), gave an engaging and inspiring talk at the American Society of Human Genetics (ASHG) conference this year titled: ADHD and OCD genetics: Populations, endophenotypes and quantitative traits. 

The talk featured some of the exciting results gained from the large-scale Spit for Science project. Partnered with the Ontario Science Centre in Toronto, Canada, the Spit for Science project was initiated to accelerate discovery and further understanding of the nature of neurodevelopmental disorders, attention-deficit/hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD), in children. These types of disorders continue throughout life and can be extremely impairing.

In this blog, we want to discuss the various genetic testing options available with respect to fertility and reproductive health; highlighting the sample collection methods often used to collect DNA. Genetic screening can be used to determine whether a person and/or their partner can successfully conceive a child or whether their infant is at risk to develop certain genetically-based conditions. Genetic risk factors can be passed through the DNA of either one or both parents during conception, and genetic screening helps identify abnormalities in the DNA or chromosomes that may be linked to unwanted health conditions.¹ Genetic testing for fertility and reproductive health is being offered by a growing number of commercial companies and can be summarized into four main categories:

Our knowledge of science is constantly changing and improving as new discoveries drive us forward in the modern world. Genomics is no exception. We witness these trends all around us either within the publications we read about new studies, in the news, or perhaps even through blogs such as this one.  For example, I recently attended the American Society of Human Genetics conference in San Diego where I picked up a copy of Cell Press’s Trends Limited Edition High-Impact Genomics, Vol. 3 (link to document) which highlights particularly impactful genomics reviews. It captured my interest and I wanted to share a few highlights with you.

Every second over 8000 tweets are sent out on Twitter¹ and, in the United States, 90% of adolescents and 65% of adults use some form of social media to curate, share and/or communicate information.² The rise of social media has transformed how scientists conduct research, communicate findings, and aggregate information. In this issue of The Genetic Link, we explore how science is harnessing social media, where it is being best-used and what this means for you.

The past decade of genetic advancements has proven DNA from saliva is reliable and effective for both research and diagnostics applications.  The benefits of collecting DNA from saliva are clear:

Genetic epidemiology, the study of how genetics contribute to health and disease in families and populations, seeks to derive a statistical analysis of how genetics works in large groups. It therefore requires enough DNA samples from a given population to reduce the effect of outliers and ultimately, determine objective truths.