By Katherine Lawless on November 28, 20182018-11-28
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.
Based on the Cell Press publication, here are 3 trends within high-impact genomics that you may not know about.
Trend #1: Gene regulation and the brain
The human brain’s complexity has been explored by researchers for centuries. Our ability to think, do, and act are all shaped by millions of years of anatomical evolution. Our brain is organized into, what Jean-Pierre Changeux, from Collège de France, explains as 4 broad levels. The lowest is our genome, specific to our species which has evolved from millions of years. Next, our transcription-factor-gene (TF-gene) network level, specific to our genes that contain our brain molecular phenotypes and gene regulation. Next, our synaptic epigenesist level, specific to our cultural evolution mediating our brain to the changing environment. The highest level, long range connectivity level, is our individual consciousness and social life.
When the TF-gene network was introduced it brought new insights into research of cognitive disease and behaviours through genetic changes of genes mostly involved in the control of neural maturation, brain growth, and neurite growth. Some genetic regulations can be connected to diseases such as Autism Spectrum Disorder (ASD). Now more researchers are diving into the world of genetics to understand the brain and its role in cognitive conditions.
Trend #2: Third-Generation Sequencing (TGS) marks the third revolution in sequencing technology
Over time DNA sequencing has come a very long way, sparking a variety of sequencing revolutions in genetic research. In 1977, the introduction of Sanger Sequencing marked the first revolution in sequencing technology. It allowed for projects like the Human Genome Project to launch providing the tools for the potential to sequence larger genomes. Years later, Next Generation Sequencing (NGS) elevated genomic research by performing high-throughput sequencing for a faster, more efficient, and cheaper route than Sanger Sequencing. This caused an industry boom revolutionizing genomic research and became our standard tool allowing for the generation of many millions of sequencing reactions per run.
According to researchers Erwin L. van Dijk et al from the University of Paris-Saclay, we have entered the third revolution introduced by the emergence of long-read technologies with skyrocketing popularity within the world of genetics. NGS was only able to perform short-reads; for research that was in need to sequence longer reads, Third-Generation Sequencing (TGS) technology was developed. Many companies began to build TGS technology to keep up with the changing trends. These new technologies enable us to explore genomes at a novel resolution. Van Dijk et al foresees that TGS will become the new standard in DNA sequencing. 
Trend #3: Personalized medicine
Genomic research throughout the years has predicted disease risk, opened doors to new treatments, and developed our clinical world. The future of clinical medicine lies within individual genomic data to predict and treat. The key to this new development is our genomic variation biomarkers.
For example, Laura Bierut and Rachel Tyndale from the University of Washington in St. Louis and the University of Toronto tackle a project on personalized medicine for those who smoke tobacco. About 6 million people die worldwide due to diseases caused by smoking tobacco. Different smoking habits are linked to the regulation and activities of genes, to name a few, like CHRNA5 and CYP2A6. Each different biomarker has their own predictive ability for the heaviness of smoking and smoking cessation.
However, the challenge most clinical researchers have are for their proposed genomic applications to be validated as clinical medicine. It is important to gather evidence to evaluate the clinical utility, analytic and clinical validity. For Bierut and Tyndale, biomarkers CHRNA5 and CYP2A6 have been proven for clinical and analytical validity and is undergoing the process of gathering evidence for clinical utility. Soon, personalized medicine will become widely available saving millions of lives from a wide variety of diseases, like those that are caused by smoking tobacco. 
The evolution of high-impact genomics will forever be within the hands of genetic researchers who begin a new wave of innovation. As time passes by, these three genomic trends are predicted to become the new norm in research, elevating us to greater discoveries.
I hope you enjoyed this summary but if you want to learn more, you can download the full Cell Press Trends Limited Edition High-Impact Genomics, Vol. 3 here.
Changeux JP. Opinion: Climbing Brain Levels of Organisation from Genes to Consciousness. Trends in High-Impact Genomics Lmt Ed. 3:168-181 (2018).
Van Dijk et al. Review: The Third Revolution in sequencing Technology. Trends in High-Impact Genomics Lmt Ed. 3: 666-681 (2018).
Bierut LJ.,Tyndale RF. Opinion: Preparing the Way: Exploiting Genomic Medicine to Stop Smoking. Trends in High-Impact Genomics Lmt Ed. 3: 187-196 (2018).