Genomics: Insight

As genetic technology advances and curiosities soar, we continue to unearth the promising world of genomics. From the small building blocks of individual genes to the larger components of entire chromosomes, every breakthrough provides new insight into- quite literally- unlocking life’s code. Genetic diseases can be detected sooner, mapped with more efficiency, and treated with personalized medicine. Increased opportunities towards treatments brings along the responsibility of communication. Patients need to understand what is happening, professionals need to inform each other, and team members need to collaborate. Without these connections, crucial information can slip through the cracks, contributing to an ever-growing divide between the public and the scientific community. Furthermore, genetic advancements can aid in increased research towards diseases that primarily affect minority populations. Sickle cell disease (SCD) is one of many that stand to benefit as our understanding of the genome evolves. With the increased responsibility behind the commitment to studying these diseases, the diversity of scientists comes to mind- from those directly and indirectly involved with the entire process. My summer internship with the Health Disparities Unit led by Vence Bonham, J.D. in the National Human Genome Research Institute (NHGRI) at the headquarters of the National Institutes of Health (NIH) introduced me to the benefits of collaboration. Working with my research mentor, Dr. Shameka Poetry Thomas, PhD, I utilized narrative medicine to explore the opinions of Black women on non-invasive prenatal testing (NIPT) in relation to SCD. One of our primary goals was expanding the representation of race within medical studies to increase the accuracy of published data. My research allowed me to view these issues head-on and gave me a personal account regarding the worthwhile effects of connection and diversity.

If communication is like a ‘key’, and progress is like a ‘lock’, every person involved in unlocking progress is a necessary ‘notch’ along the key’s blade. Failing to acknowledge this vital chain of communication blocks us from properly opening our ‘lock’ and limits our ability to go further- literally and figuratively. Assessing the field of genomics as a whole, the ‘notches’ comprise both the scientific community and the general population. Proper communication from scientists relating to clinical research developments and its potential benefits and harms is essential towards informing the public about how they benefit from progress. It also reduces anxiety about adopting new treatments and increases the likelihood of gaining overall support. I saw first-hand the importance of good communication in the context of my own internship. First, my work was conducted strictly in a virtual environment due to COVID-19 restrictions and necessitated staying on top of correspondence to prevent delays. Poor communication could have derailed personal assignments and group projects as we worked as a team to merge our data. Second, the doctors and genetic counselors I met this summer emphasized to me how proper conversations surrounding treatments yield better patient outcomes and cross-discipline experiences. In comparison, little-to-no communication brings confusion onto professionals, transferring negatively into patient care. I was thankful enough to have consistent lab support throughout the summer, preventing these unfavorable outcomes. Successful communication made everything to run smoothly and allowed me to focus on learning without the additional stress.

“Proper communication from scientists… [is] essential towards informing the public about how they benefit from progress.”

The effects of diversity were also evident within my eight-weeks in the Bonham lab. Ranging from diversity within race, background, and interests, it was clear how much difference was valued within the group. Valued, as opposed to forced- these differences were apparent and used in a constructive manner to improve the overall open-mindedness and success of the team. This brought a variety of perspectives and ideas, as racial topics were not the touchy subjects they sometimes are within the workplace. An example of this would be the Bonham lab’s recently published anti-racism paper titled “Cultivating diversity as an ethos with an anti-racism approach in the scientific enterprise” (Thomas et al., 2021). Spearheaded by Dr. Poetry Thomas, the lab advocates for an inclusive and diverse framework within science to push the boundaries maintained by current structures. This model of teamwork proved useful, as the team engaged with a multitude of topics relating to SCD and the health disparities surrounding it. Additionally, most of my time was spent with my research mentor, Dr. Shameka Poetry Thomas (an early-career, Black female scientific investigator). Having a mentor that looks like me was a new experience, and one that I can’t overstate enough. It was fantastic to see another Black woman conducting research as a PhD, creating studies that aim to uplift the lives of Black women through health equity research. While this opportunity has had and will continue to have long-lasting effects surrounding my place within research, I can only imagine other mentees reaching the same conclusions, and how it will impact them across pipelines.

“[Valued] differences were apparent and used in a constructive manner to improve the overall open-mindedness and success of the team.”

My time with the Bonham lab opened me to a side of science not often seen, combining scientific research with team connections and growth. I was able to see, first-hand, the amazing research that is able to be conducted when proper attention to diversity and communication are combined. It was a fantastic introduction to my first experience with NHGRI and health disparities, and I cannot wait to apply what I have learned to my own career endeavors in medicine and beyond.

Related Links

1. “Cultivating diversity as an ethos with an anti-racism approach in the scientific enterprise” https://www.cell.com/hgg-advances/fulltext/S2666-2477(21)00033-6