We have been blogging for the past few months about rare disease. We have heard stories of resilience, of acceptance, and of heroics. These patients get us out of bed every morning; they are part of our MISSION. But what enables us to help patients with rare disease? We are, at the end of the day, a company of science. At Vencore we have over 500 data scientists and 180 Ph.D.s in every field from astrophysics (so yes, it actually IS rocket science) to mathematics to electrical engineering. We have imaging scientists, computer programmers, and even our very own meteorologist. So this summer we plan to use those skills to launch a series on data science, and all things technical. We start today with genomics. The data being generated in this field are staggering. How will we manage it all? How will we use it in a way that is clinically intelligent? Read on for a brief introduction to the topic from one of our data scientists.
Tara Grabowsky, MD
Chief Medical Officer, Vencore
Drug development is a risky business. Recent articles show that the risk-adjusted cost of bringing a new drug to the market can add up to more than $2.5 billion. This is an astonishing amount considering that about only 10% of these drugs survive through the clinical development process. This imbalance between cost and returns has resulted in biopharmaceutical companies modifying their approach to change the cost-risk equation and enhance returns. One such modification is using genomic data to make informed decisions about drug development, which can ultimately lead to higher efficacy.
Genomics is the study of genome sequencing and analysis. The information it provides can be used to understand and explore the many expressions of living organisms including identifying disease risk, ancestry, traits, response to medicines, drug targets and validation. It is known that the genome is 99.9% identical among the human species (and up to a staggering 98% identical between humans and other species), yet somehow there are millions of differences in the genomic expression of individuals. Understanding why and how the genome is expressed differently on an individual basis allows us to understand why some people respond to one medicine better than another, or are at risk for certain diseases. This allows us to be more precise in our approach to healthcare.
Through the understanding of genomic information, pharmaceutical companies now have the potential to produce targeted therapies that affect only the disease agents and leave healthy cells untouched. For example, breakthrough discoveries such as the recent advent of CRISPR/Cas-9 system, through functional genomics screening, can help identify novel targets that were once overlooked. This discovery also aids in simplifying disease models by using permanent gene knockouts to validate targeted therapeutics.
Pharmaceutical companies have already begun incorporating genomics information into their programs. Last year some of the world’s largest pharmaceutical giants such as GlaxoSmithKline, Astra Zeneca, Roche, AbbVie and Biogen teamed up to mine the genomes of 100,000 patients with cancer and rare diseases. This year AstraZeneca has started an initiative, partnering with strong genomics leaders, to mine up to 2 million people’s genomes for new drug targets. This is an unprecedented amount of information that will be available as a new resource. They have already established an in-house genomics center and will start another research team in the United Kingdom’s Wellcome Trust Sanger Institute.
In this era of personalized medicine where genomics has quickly taken place as a key player, it becomes increasingly crucial to be knowledgeable of the advantages genomics information can provide to the healthcare industry. More importantly, it is necessary to know how to interpret this data so we can fully understand and integrate with other medical information to build more holistic pictures for individual patient care.
Manjula Kasoji, MS