Ethics in Precision Medicine: Rare Genetic Disease
Precision medicine is medical care designed to optimize treatment of patients in certain subgroups, often using genetic or molecular profiling. This application of research has been expanded into many areas of healthcare and professionals study the genetics, environment, and lifestyle of a person’s own genes or proteins to prevent, diagnose, or treat diseases. Precision medicine has been successfully implemented with many more high volume diseases, such as diabetes and heart disease. However, only recently have efforts been made to expand into a more difficult area of medical research: rare genetic diseases. These diseases, such as Mitochondrial disease and Usher syndrome, can take much longer to diagnose and often result in an extensive diagnostic odyssey (period of attempted diagnosis from the onset of symptoms) which can involve many different professional visits and possible diagnoses. The time spent with painful medical procedures and practices to search for the proper diagnosis is lengthy. The potential application of precision medicine in this field could help alleviate this painful process as a diagnosis can lead to therapeutic and practical treatments for patients.
Worldwide, ‘“more than 25 million Americans and more than 400 million people suffer from one of over 7000 rare conditions” (3). Most of these patients suffer on a “diagnostic odyssey” with uncertainty, no diagnosis, and only treatments that “might work”. With precision medicine, genetic tenting could help speed up the process and improve the probability of a diagnosis.
However, what are the ethical implications of this potential research?
Utilizing the technique of precision medicine has little to no ability to avoid breaching personal information. The center of this technique is based upon invasive personal data surrounding one’s lifestyle as well as specific family genetic lines. Some commonly discussed issues are privacy, informed consent, shared decision making, social justice, regulation of human subjects, and more (4). However, researchers have worked hard to minimize the negative implications with ideas such as “treating individuals as partners rather than only as prospective human subjects” (2). Most important is the clear explanation of the role of participants and informed consent into any specific study. With rare genetic diseases, this is even more imperative as it is much more difficult to gather data as a result of significantly less affected and diagnosed patients compared to common diseases such as diabetes.
One ongoing application is being conducted at Columbia University with the DISCOVER program aimed at diagnosing and treating rare diseases. As a part of the Columbia Precision Medicine Initiative, researchers are utilizing data from patients’ genome-sequencing and other information relative to delivery of comprehensive genomic information in order to construct models of identified diseases for future patients. With these tools, templates, and information, potential future diagnosis will be more aprehensible and save patients some of the long odyssey others have suffered through.
Edited by: Sage Singh
Graphic Designed by: Priya Meesa