Guest Columnist: Robert S Griffith, RN, 3rd Year MD Student TCMC
Robert S. Griffith, RN, currently a third year Doctorate of Medicine student at The Commonwealth Medical College [TCMC] in Scranton, PA., graduated from Wilkes University in 2010 with a Bachelor’s of Science in Nursing. Robert worked as a Registered Nurse in the emergency room at Pocono Medical Center for 4 years prior to beginning his medical education at TCMC. Currently, he is working in Genomics research with Dr Michael Murray through Geisinger Health Network. Earlier this year, he presented topics on sudden cardiac arrest at the 2015 American College of Medical Genetics and Genomics National Conference. His future aspirations include: application of genomic research into everyday medical practice, serving the underserved and poverty-stricken people of this country, and providing healthcare needs to those in third world countries.
The Commonwealth Medical College presents:
Keystone Symposium – Fall 2015
“Genomics: What Every Health Care Professional Needs To Know”
Saturday, November 21, 2015
8 AM to 12:30 PM
TCMC Medical Sciences Blding
525 Pine Street
Scranton, PA 18509
For More Information: Contact Gloria Colosimo at 570-504-9074 or email CME@tcmc.edu
Genomics is the study of all genes in the human genome and how these genes interact with each other and the environment to produce a wide range of human diseases. As the study of genetics and genomics continues to advance, health professionals need to have a better understanding of clinical and ethical implications. According to the Department of Health, since the completion of the Human Genome Project in 2003, significant progress has made in the understanding of genetically complex conditions such as asthma, diabetes, autism and bipolar disorder. Consequently, with this knowledge, there are new opportunities to diagnose and predict disease, long before its clinical manifestations. The Genomics Symposium at TCMC will, among other goals, examine the potential of the current tools and procedures used to evaluate which genetic variants play a role in human disease and identify those that are relevant to patient care. The following article, written by TCMC student Robert Griffith, provides an overview of this exciting but complex topic, in well-written, understandable and user-friendly terms for public consumption.
We are all made of genes. These genes, in turn, make up our DNA and all aspects of who we are as individuals. These aspects include our eye color, what our adult height will be, what sorts of things we will be allergic to, or even what kind of foods we will find delicious. Each of these things is determined by our genetic makeup. When a single gene is studied, it is called genetics. Several sets of genes make up a collection of genetic instructions for every single human cell. This collection of genetic instructions is termed a genome. Genomics is the study of the function and interactions of the DNA in a genome.
A genome is the entire set of genetic instructions found within a cell. Take an electric plug, for example, it has a precise shape and function in order to be inserted into a wall and provide electricity to whatever device it may be powering. The integrity of the electric plug may be intact and function well but the outlet, which it inserts to, may or may not be compatible with the plug dimensions. Consider the plug as our gene and the interaction between the outlet and the device genomics. We are still looking at the plug (our gene), but also ensuring the proper fit is made in order to function properly. The plugs purpose was to transmit electricity to a device in order to make the device function as intended. Just as DNA is responsible for the composition of proteins, these proteins are responsible for forming the entire human structure, from the way we think, to the way we move, and interact with one another. It is here where we root ourselves in the study of genomics.
There are millions of base pairs, which make up approximately 24,000 genes in our genome and they all have several distinct functions. Each of these genes is made a certain way, a culmination of biologic pieces of information capable of transmitting a message to the next person in the assembly line. At the end of the assembly line is a product which has a particular biologic function, whether that is to produce protein to make new muscle or signal the need for new clotting factors to be generated, the possibilities are infinite. Of the millions of base pairs that compose our genes there are millions of variations between any two individuals. In the genomic realm these are typically referred to as “misspellings.” For instance, “the fence is gray” and “the fence is grey.” Although gray is spelled differently the overall meaning of the statement is recognized and functions within the sentence. Misspellings such as this do not lead to cancer or premature heart attacks, etc. they are common and the same product can be produced and function as it would regardless of the spelling.
What if gray was replaced with the word Kentucky? “The fence is Kentucky.” This sort of misspelling is the type of error that can lead to some of the problems previously mentioned. The radical misspelling of the word gray conveys a completely different meaning to the next person in line and thus, drastically affects the product outcome. These downstream events are not always immediately recognized. Some of these problems only present themselves when a certain product/outcome is needed, and depending on the circumstance can take a lifetime to be clinically relevant.
Significant advances over the past 10-15 years have lead to creative and innovative techniques for analyzing these misspellings on an individual basis. The technique of analyzing these misspellings is called sequencing. Through analysis and scrutiny of genome sequences we have been able to determine patterns or recurring relationships that seem to be associated with certain disease(s). Discovery of these patterns have allowed physicians and other health professionals to prophylactically treat, decrease, and/or eliminate complications associated with some of the identified conditions.
In other areas of medicine, pharmaceuticals are analyzed and tailored to individual preference based on information found in these sequences. For example, there may be a protein made by our genetic assembly line, which is responsible for metabolizing antibiotic Drug X. This antibiotic Drug X has been proven to be effective in treating bacterial infections but if the protein is non-functioning or partially functioning then the drug might not be as beneficial as had been hoped. The genome sequencing may have alerted the healthcare teams decision that antibiotic Drug X would not be the best choice to use. These teams would have come to the conclusion that the metabolizing protein was misspelled and a different, more effective, drug could have been utilized.
Other early interventions are noted in several areas of medicine like implantable defibrillators for those at risk for sudden cardiac arrest due to an electric ion channel disturbance, or bowel resection surgery in those at inevitable risk for developing colorectal cancer (e.g. hereditary nonpolyposis colon cancer).
These early interventions are currently impacting everyday lives and continue to show promise through dedicated research and bedside application. The wealth of information generated from genome sequencing is vast and ever growing. We remain in the infancy of this technology and have much maturation to undergo. It is a slow and steady process but will continue to benefit the human race for years to come.
FOR MORE INFORMATION VISIT:
Murray, M.F., M.W. Babyatsky, and M.A. Giovanni, Clinical Genomics: Practical Applications for Adult Patient Care. 2013: McGraw-Hill Education
Feero, W.G., A.E. Guttmacher, and F.S. Collins, Genomic Medicine — An Updated Primer. New England Journal of Medicine May, 2010. 362(21).
Burke, W. and D. Dimmock, Screening an Asymptomatic Person for Genetic Risk. New England Journal of Medicine June, 2014. 370(25).
Samuel M Lesko, MD, MPH, Medical Director, Northeast Regional Cancer Institute, Clinical Professor of Family Medicine and Epidemiology, TCMC
Karen E. Arscott, DO, MSc, Associate Professor in Clinical Sciences, TCMC
Visit your physician regularly and listen to your body.
EVERY MONDAY – Read Dr. Paul J. Mackarey “Health & Exercise Forum” in the Scranton Times-Tribune.
This article is not intended as a substitute for medical treatment. If you have questions related to your medical condition, please contact your family physician. For further inquires related to this topic email: firstname.lastname@example.org
Paul J. Mackarey PT, DHSc, OCS is a Doctor in Health Sciences specializing in orthopaedic and sports physical therapy. Dr. Mackarey is in private practice and is an associate professor of clinical medicine at The Commonwealth Medical College.