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Coding the Human Spirit: Medicine and Genomics


Genomics has been having a field day with the press for the past couple years, and rightly so. New advances in the study of our genome have provided us with not just more information than we currently know what to do with, but also with new tools whose potential for the future seem to reach into the realms of science fiction. The possibilities and consequences of these new discoveries, from designer drugs to designer babies, has entered the discussion. But while the potential benefits seem clear to patients, little has been discussed about the implications these advances have regarding how physicians will use these powerful new tools. How they will shape our future practices? And most importantly, how will they shape our interactions with patients?

First and foremost, what exactly is this field? Genomics is a subset of genetics that attempts to sequence and analyze an organism’s genome: the totality of its genetic map, composed of varying arrangements of DNA. Historically, this was no easy undertaking. The first gene sequencing took place just 39 years ago, with the sequencing of a 5,000 nucleotide strand bacteria. This breakthrough, discovered independently by Frederick Sanger and Walter Gilbert, opened the door to human genome sequencing. For this, they shared the Nobel Prize in 1980. Since then, genomics has grown exponentially: when the Human Genome Project was completed in 2003, the project had successfully mapped 90 percent of the human genome — about three billion nucleotide pairs.

Major breakthroughs in genomics, and what to do with the data we’ve decoded, have occurred as recently as 2012. Jennifer Doudna and her team at Berkeley discovered what became known as the “CRISPR-Cas9 technique” for editing DNA. Simply put, the process uses an enzyme found in a Streptococcus strain of bacteria that can be used to cut and paste specific genetic sequences in living cells. Since it’s discovery, the CRISPR-Cas9 technique has spread like wildfire through the scientific community, sparking new research in areas ranging all the way from HIV treatment to biofuels. This unlocking of the genetic map has had such wide-reaching impacts and implications that in 2015, Science named the CRISPR-Cas9 technique the “breakthrough of the year.” It has also fueled the ongoing debate over the ethics of genomics, sparking conversations  on how much scientists should be allowed to edit an organism’s genome.

Now that we’re all caught up to speed, how are physicians currently using these new technologies, and how will we use them in the foreseeable future? One of the most widely used ways physicians are using genomics is in early childhood disease screening. Today, the American College of Genetics and Genomics recommends that newborn infants be screened for 57 genetic diseases, allowing for early recognition and treatment for countless babies whose diagnoses would have otherwise been delayed or missed. In the near future, many physicians hope to be able to sequence the entire genome of every newborn, allowing them to easily detect any underlying genetic disorder. Another new tool under our belts lies in pharmacogenomics, or the use of one’s genome to determine or create proper pharmacotherapy for a patient. Already, the FDA has approved more than 100 different drugs that have pharmacogenetic information on their labels. Take the newly approved cystic fibrosis medication, Ivacaftor. This drug, which is able to target a specific CFTR gene mutation known as G551D, was labeled as a “wonder drug” when it came out owing to how well it treated cystic fibrosis (Ivacaftor is currently one of the most expensive drugs in the world). In the future, the hope is that patients will have cheap and easy access to their genomes, enabling medications to be tailored to their specific genetic makeup.

These are some of the clear benefits of the advances that have taken place in the field of genomics and medicine. Yet, some things still remain unclear, and the ethical implications of them have been a hot topic of debate. Fears of genetic tampering are so strong that a moratorium has been called on the use of these techniques in human germline studies. Jennifer Doudna, of the original team that discovered the CRISPR-Cas9 technique, eloquently discusses some of the bioethical concerns about her research. And, while she clearly addresses the implications for patients, a discussion about how these changes will shape how we, as physicians, will practice, or should practice, has been infrequently debated. Of biggest concern, is the intersection between genomic medicine and primary care. As the need for primary care providers increases in the United States, how will primary care physicians field, counsel and educate patients on their genomes?

One of the largest roles of the primary care physician is behavioral change in the setting of complex chronic disease. Lifestyle modification and education all make up part of the day for a primary care physician treating diseases such as COPD, obesity and heart disease. Ideas previously taken for granted in primary care, such as dieting and weight loss, have recently been turned on their heads in terms of how much of an impact lifestyle change can actually make. In a recent study published in Obesity, and highly publicized by the New York Times article “Why You Can’t Lose Weight on a Diet”, researchers found that obese patients weren’t able to lose and maintain weight loss not because of a lack of a healthy lifestyle, but rather because their metabolisms had begun to work against them. In effect, their biology prevented them from achieving something we as physicians often think of as a disease of lifestyle. With this in mind, how will the primary care physician of the future counsel a patient on weight loss? Studies have already shown that lay knowledge of genetic determinants of health affects how patients rationalize noncompliance due to a belief in the deterministic nature of their genetics. Will the use of genomics in the clinic reshape our interactions with our patients, creating a medicine steeped in reductionism and determinism?

On a practical level, how will genomics be implemented in the clinic? Primary care physicians are already tasked with providing education to patients on their complex medical issues. If this task befalls the future primary care physicians, additional training will surely be necessary on how to provide this kind of information effectively. Additionally, how will access to genomic information become a barrier to health care? If we wish to prevent widening the already significant health disparities gap in the U.S., then genomic medicine will have to be available to patients across the socioeconomic spectrum.

Finally, after genomics is done plumbing the depths of our genomes, where will the spirit of our patients be found? We are so far from understanding the complexities of our health, and how our genes interact to influence our health, that it should remain essential that physicians continue to foster, nurture and encourage the agency of our patients in making decisions about their health. Tools such as motivational interviewing and cognitive behavioral therapy continue to prove successful and may become increasingly useful in a future where diagnosis no longer makes up the majority of the physician’s work. We, as physicians, must resist the urge to lean too heavily on the science of medicine and forget the art of it. We must remember that insight, education and motivation can make up a patient just as much as their genome.

Michael Tarkey (2 Posts)

Contributing Writer

Saint Louis University School of Medicine

Michael Tarkey is a member of the class of the 2017 at Saint Louis University School of Medicine. He graduated from Saint Louis University in 2013 with a degree in Biology with minors in Theology and Urban Social Analysis. His interests include healthcare ethics, social justice, and long walks on the beach.