In this webinar, Sano co-founder and CEO Patrick Short discusses the essentials of genetics and genomics, including genetic variation, genetic testing, and more. Patrick offers a thorough overview of current discoveries and discusses how they may impact the future of clinical practice.
The link to the full webinar is here; a brief summary is below for easy reference.
Dr. Patrick Short holds a PhD in Mathematical Genomics and Medicine from the University of Cambridge and is experienced in genomics research with a focus on large-scale genome sequencing and rare disorders. He is dedicated to driving the world’s transition to precision medicine through Sano, which combines genetic testing, recruitment, and long-term engagement in one platform, accelerating enrollment and simplifying operations for precision medicine studies.
Genetics is rapidly becoming an important topic in drug development, with precision medicine being a key focus. Patrick kicked off the webinar by providing a primer on genetics for clinical operations professionals working in the space.
One of the reasons genetics is becoming such an key topic is due to the cost of sequencing a human genome dropping exponentially. At the start of the Human Genome Project, it cost over $100 million to sequence a single person's genome. However, in just 20 years, the cost has dropped to less than $1,000. This has led to the rise of precision medicine and has made it possible to run modern rare disease or precision medicine studies that involve exome sequencing or whole genome sequencing.
During the webinar, Patrick also discussed the importance of understanding the prevalence and penetrance of genetic diseases. Prevalence refers to the percentage of people who have a particular genetic disease in a given population. Penetrance refers to the percentage of people who have the genetic variant and will go on to develop the disease. Understanding prevalence and penetrance is essential in clinical research, as it can impact how clinical trials are enrolled and how recruitment plans are created.
Polygenic risk scores are an emerging trend in genetics that Patrick touched on during the webinar. This involves taking hundreds, thousands, or even millions of genetic variants across the genome that individually have a small impact on a trait or disease. When combined, these scores can add up to people who carry a large number of these small risk factors, pushing them higher on the risk scale. Polygenic risk scores are starting to be used more frequently in earlier stage research and development.
In addition, Patrick discussed some of the genetic technologies that are relevant for clinical research. These include genome-wide association studies, CRISPR gene editing, and liquid biopsy. Genome-wide association studies involve comparing the genomes of people with and without a particular trait or disease to identify genetic variants associated with the trait or disease. CRISPR gene editing is a precise and targeted way to modify genes in cells or organisms. Liquid biopsy involves analysing DNA fragments released by tumours into the bloodstream to detect cancer.
This webinar highlights that in the dynamic landscape of drug development, genetics has surged to the forefront, ushering in an era of precision medicine and new possibilities. The remarkable cost reduction in genome sequencing has paved the way for groundbreaking studies in rare diseases and precision treatments, reshaping how we approach healthcare. Beyond the laboratory, the nuanced understanding of genetic prevalence and penetrance has become a cornerstone in shaping clinical research strategies, ensuring trials are targeted and effective. Emerging trends like polygenic risk scores and innovative genetic technologies promise to continue to drive drug development, promising greater accuracy, customisation, and hope for patients worldwide.