In the past few years, DNA sequencing has begun to play an increasingly significant role in diagnosing and treating patients, and more information as well as stories regarding this change in medicine have become available. For example, in 2011, Elizabeth A. Worthey and her colleagues published an article in Genetics in Medicine, documenting how they found the root cause of a patient’s disease using exome sequencing and cured the patient successfully, after years of failed treatments. Angelina Jolie’s high profile op-ed article on the New York Times published in 2015 is another example. She shared with readers how she utilized DNA sequencing to identify that she carries pathogenically mutated BRCA genes, and decided to undergo bilateral mastectomy. Besides providing insights to the technological progress in medicine, these articles also indicated how individuals and their decisions are becoming more powerful in shaping the future of medicine.
The patient whose case Worthey and her colleagues’ article focused on had severe inflammation and collections of pus in his bowels and around his anus, and was not gaining weight properly before he was 15 months old. Because these severe symptoms do not usually show up in children so young, the authors believed the patient’s immune system was defected, attacking both pathogenic cells as well as healthy cells. After trying in vain to treat this patient with surgery and chemotherapy that helps with autoimmune disorders, the authors turned to DNA sequencing. When the results of testing for single genes known to affect the immune system came back normal, the authors opted for whole exome sequencing, which is more time and money efficient than continuing to test single genes. By mapping out the patient’s exome (the parts of the genome that code for proteins), comparing it with a human reference genome (a person’s entire gene sequence), and eliminating the variants that are unlikely to cause the symptoms, the authors eventually identified the root cause of the patient’s situation: a mutation in the gene that prevents cell suicide. Around forty days after receving a bone mwrrow transplant, which gave the patient a new immune system, he was able to eat and drink with no recurrence of inflammatory bowel symptoms.
The article is important and exciting to anyone who cares about health-related issues because it is one of the first cases in which exome sequencing was used to diagnose a patient and affected the course of treatment. This case is also a great example of medicine becoming increasingly personalized rather than relying on traditional surgical approaches. In addition to acknowledging the technical advancement, this article helps spread the word to a broader audience than just the people working in the medical fields. When scientists and other academics are aware of the new approach, more collaboration across disciplines becomes possible. Similarly, Angelina Jolie described her medical decision in her article with great details and honesty, while also making sure the readers understand why she chose the most aggressive approach and are introduced the alternatives. Her action made relevant information available to the general public, and prompted more people to pay attention to the fact that they now have more options and agency regarding their personal health.
Today, more and more people are proposing the democratization of medical information, which means that all patients have access to their own medical data. This implies that the future of medicine is in the individuals’ hands, and I would even take it a step further to say that individuals are responsible for the medical democratization revolution. We need more patients who are willing to share their experiences and educate the public about their medical information and options; we need more scientists and doctors who are willing to work together and propose new approaches to the patients; we need more politicians who are dedicated to make policies that ensure patients will be informed of their medical data. Most importantly, we need all individuals to understand that they should have the right to be fully informed, and to take part in the conversation to shape the future of medicine.