What is Precision Genomic Medicine?

DNA Sequencing Technology

Genomic medicine is now possible because of three major developments from the past two decades. Because of the Human Genome Project first completed in 2003, we have a complete roadmap of the human genetic code. As and added benefit, the technology available to sequence DNA has improved in leaps and bounds. DNA sequencing is now far less expensive and faster. Where determining the first human genome sequence required billions of dollars, multiple laboratories, and hundreds of scientists, now a complete human genome can be sequenced for less than one thousand dollars by one technician with a device no bigger than a household refrigerator. Further, because of the rapid advancement in computing power, software, and gene databases over the past decade, making sense of DNA sequence information is far faster, easier, and less expensive as well. This culmination of technological advances in all these areas has now laid the foundation for practical application of DNA sequencing in medicine.

The Personalization of Medicine

Traditionally, medical research and practice has largely considered a patient as being an "average person" out of some population of many individuals. Clinical studies and drug trials relied on statistical evaluation of large amounts of data distilled down into "summary statistics." But we all know that we are all unique. None of us is an "average" person. Now that we have the technology to analyze each person's unique DNA code and biochemical characteristics, we can start treating each person's condition taking into account our individual genetic differences.

This approach now allows for the personalization of medicine to each person as a unique individual - an approach now called "individualized" or "precision" medicine. Those terms all mean the same thing: analzying a person's unique characteristics, and tailoring treatment to a specific person instead of some hypothetical "average" person. This approach isn't speculative or "fringe" science. It's already revolutionizing our approach to medicine.

Read about the White House's Precision Medicine Initiative here:

Progress is Already Being Made

Precision Genomic Medicine in Practice

There are already some examples of Precision Genomic Medicine in practical applications:

Pharmacogenomics

The reason a medication may work well for one person, not well for another, and cause serious side effects in yet another is largely because of our personal genetics. Combining pharmacology with genetics – a field called “pharmacogenomics” – promises to improve medication effectiveness while decreasing the risk of adverse side effects. A simple test requiring nothing more than a cheek swab can help your physician prescribe the best drug for you at the best dose based upon the genes that help determine your individual drug response and metabolism rates. You may not be aware of it, but even the U.S. FDA has started recommending pharmacogenomic tests be done on patients prior to prescribing over one hundred different medications.

See the FDA's recommendations here:

Targeted Cancer Therapies

Cancer isn’t a single disease. It is a condition that includes over two hundred different diseases. On top of that, every patient’s cancer is genetically unique. Using the precision medicine approach, oncologists can now monitor and treat each person’s unique cancer through its “genetic fingerprint.” Along with new cancer immunotherapies, these new approaches to cancer treatment are starting to achieve astounding success. Many of these new targeting therapies have only mild side effects, if any – and we all dream about the day that we may be able to reduce or replace traditional chemotherapy with its dreaded debilitating side effects. Tumor sequencing combined with targeted molecular therapies specific to a tumor's genetic mutations is a giant stride forward toward that dream.

Read more about this at the National Cancer Institute website:

Other Areas

Using genomic sequencing, we can now determine whether or not a person is at risk for having different conditions that may affect heart function, such as nerve conduction abnormalities or structural cardiomyopathies. These kinds of tests may be of value for instance, for screening young athletes prior to engaging in strenuous sports. Nearly every major medical condition, from Alzheimer's disease, Parkinson's disease, autism, and diabetes have some genetic risk component. Researchers are in the process of developing new tools that may help predict, prevent, treat, and the hope is - ultimately cure - these conditions.

Someday soon, DNA sequencing may also allow physicians to more quickly and accurately diagnose infectious diseases. Currently, when a physician suspects an infection, a specimen must be taken and the pathogen grown on a culture growth plate in an incubator. This may take several hours or days - in which case the wait may delay important treatment. With access to direct sequencing of a pathogen's DNA or RNA, physicians could more quickly and accurately determine the microbe responsible for an infection and start appropriate treatment immediately.

How Can I Benefit from Advances in Precision Genomic Medicine?
Unfortunately, precision genomic medicine is not yet widely available to patients. But making it more widely available to everyone is exactly what we're trying to accomplish. There is a lot to do, but these are the efforts we see as essential in ensuring that your physician has access to these tools to improve your health care:

Clinical Research

New Discoveries

Clinical studies in nearly every area of medicine are still needed to help make new discoveries that can help patients. While there is already some knowledge that can implemented today, much more research remains to be done. We still are only on the threshold of understanding the genetic basis for many diseases. But with new DNA sequencing technologies and a precision medicine approach, we believe that the pace of medical discovery and the road to better treatments and cures can now be developed much more quickly.

Clinical Trials

In order to get new technologies and treatments in the hands of physicians, clinical trials are needed to provide definitive evidence that these advances actually improve patient outcomes and are safe. No matter how promising a new discovery is in the laboratory, it must be demonstrated under carefully controlled conditions using patient populations. To be able to get new discoveries out of the laboratory, into the hands of physicians, and into widespread practice with patients, stringently conducted clinical trials are absolutely necessary.

Translational Research

Clinical studies are necessary, but alone are not adequate to ensure that new medical discoveries can be adopted widely by the medical community. Research must be done with the conscious goal that any discovery or technological advance must at the end of the day improve the lives of patients. Translation of discoveries and technologies into practice requires a great deal of research and development, so that the advance can be made into practical, usuable tools by health care providers. A huge scientific breakthrough by itself is of little value in medicine unless and until it can be transformed into a practical solution that health care providers can use in their daily work.

Education

We wish to raise awareness throughout the medical community about the benefits of Precision Genomic Medicine. Through professional development workshops and symposia on Precision Genomic Medicine, we wish to help ensure that all health care professionals remain on the cutting edge of knowledge and technology that can help improve patient care.

We also know because this field is advancing so rapidly, a large proportion of the health care community will have much more to learn about the human genome and its connections with health. Medical technologists will have to understand more about the underlying technology. More professionals will be required to help with clinical interpretation of genomic information. We therefore aim to support the more widespread adoption of Precision Genomic Medicine through developing formal educational programs in association with Florida Gulf Coast University's Department of Health Sciences and our medical and professional society partners.

Finally, we feel another important area of effort is to raise more awareness and understanding of Personalized Genomic Medicine with the public. We intend to hold workshops and symposia to help empower patients, care givers, and the loved-ones of anyone afflicted with disease.

Clinical and Translational Genome Research Institute

 

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