Precision Medicine: Genomics as the Future of Diagnostics and Treatment

Known by many names such as personalized medicine, targeted medicine, and stratified medicine; precision medicine is an important and growing concept. Regardless of what you call it, the simple concept behind it is to make medicine and medical practices more efficient, more effective, and less expensive. Doctors can now look at your genetic makeup and use this information to help prescribe the right drug at the right dose.

Evolution of Precision Medicine

While the precision medicine movement has been gaining a lot momentum lately, it is not a new concept. Going back as far as 1907 when a man named Ruben Ottenberg developed the first test for blood compatibility, personalized medicine has been in the works.

One of the first and best examples of modern precision medicine is the drug Ivacaftor. Ivacaftor targets a protein that is implicated in Cystic Fibrosis. However, Ivacaftor will not work for all Cystic Fibrosis patients, only about 4% of those with the disease have the specific genetic mutation that Ivacaftor targets. In this case it is the G551D mutation which leads to the malfunctioning protein. Genetic testing can identify patients that would be good candidates for Ivacaftor. This was considered the first drug to treat the underlying cause of disease.

Another important concept within precision medicine is Pharmacogenomics, the convergence of genetics and pharmacology. Variations in our genetics can affect the response we have to certain drugs, this can affect the way people metabolize drugs, you may be a poor metabolizer or a rapid metabolizer. Simple genetic tests can identify certain genes associated with drug metabolism and based on the findings your doctor can choose the most effective medicine at the optimal dose for your treatment. Genetic testing can cut down on the “wait and see” approach when it comes to prescribing drugs.

Developing Genetic Tests Using Biomarkers

Personalized medicine relies heavily on the use of genetic biomarkers. Genetic biomarkers can be used to indicate a disease state or a normal biological state, and they can be measured accurately and the results can be reproduced. In the case of Cystic Fibrosis, the G551D mutation is used as a biomarker for disease.

There are many labs that perform this type of genetic testing. Most of the lab developed tests found in a CLIA lab are used for some form of personalized medicine. There are tests that can detect genetic variants associated with a single nucleotide base change, these are called SNPs (Single Nucleotide Polymorphism). Some tests are detecting a single gene associated with disease and others look for multiple genes associated with a disease.

So, how do we find these genes associated with disease? Gene sequencing. Gene sequencing from traditional Sanger or Next Generation Sequencing (NGS) methods gives us the ability to uncover the SNPs, the single genes, and the multiple genes associated with disease and can put researchers on the right track to finding a therapeutic to treat it.

The Precision Medicine Initiative

Recognizing the value of precision medicine, the President has gotten involvedwhen he launched the Precision Medicine Initiative (PMI). The PMI launched in 2015 and is a multi-pronged, multimillion dollar approach to leverage advances in several fields such as genomics, technology, and research to move away from the “one size fits all” approach to medicine to a tailored individualized approach.

The PMI provided funding to the National Institutes of Health (NIH), the National Cancer Institute (NCI), the US Food and Drug Administration (FDA), and the Office of the National Coordinator for Health Information (ONC). Each of these offices will develop guidelines and standards for precision medicine. As examples, the FDA will help regulate testing and instruments specifically those geared towards NGS; the NIH and NCI will help develop databases of patients, genes, and treatments; and the ONC will help secure how patient information is shared and stored.

Why is a LIMS Company Blogging about Personalized Medicine?

With the focus of precision medicine set on NGS, Core has a solution geared toward getting a lab up and running quickly using either of the two popular Next Generation Sequencing methods on the market currently. Developing a cancer therapeutic and need a screening solution? Core has that too.

In any lab, whether it be to research a disease, develop therapeutics, or diagnose patients, there need to be standards, traceability, and organization – these needs can be met by a solid LIMS. Keeping track of cell lines, clinical trial participants, and patient testing is no easy feat. Choosing the right LIMS can keep your lab running smoothly. As research and technology progress there also needs to be some degree of flexibility to a LIMS with the ability to add new tests, reagents, and instruments. And, if one of those labs decides to transition to diagnostics from research, the LIMS would need to adapt there too (e.g., by supporting validation).

This flexibility and ability to evolve with the science are all available on the Platform for Science. Our genomics screening solution is comprised of modular applications available in the Platform for Science Marketplace. The applications can be put together, without any custom code, in an order which fits the workflow in your lab, enabling you to do your science, your way.

Just because we’re a LIMS company doesn’t mean we are far out of the precision medicine race, the truth is we’re in the thick of it helping labs and improving lives.


Additional source: “Paving the Way for Personalized Medicine”


Chrisanne Wnek is a Genomics Application Specialist at Core Informatics. She holds a Master’s degree in Medical Laboratory Sciences from Quinnipiac University and is an ASCP certified technologist in molecular biology. She’s spent over 8 years working in the field of genetic research in Sanger, NGS and CLIA labs.