Precision Medicine and the Changing Landscape of Research Ethics

Marilyn J. Hammer, PhD, DC, RN


Oncol Nurs Forum. 2016;43(2):149-150. 

In This Article

Issues Facing Genetics and Genomics Research

A major challenge with genetics and genomics research is that it is a nascent science still being refined and opening doors to new questions and issues. In addition, part of the PMI is to include patients as active partners in research, giving them access to the study outcomes to which they contribute (Collins & Varmus, 2015). Achieving the PMI's goals while maintaining the tenets of protecting human participants may require some changes to the Common Rule (Collins & Varmus, 2015; Fiore & Goodman, 2015) and a push toward broad consent, meaning a global consent form that would not have to be tailored to individual studies (Fiore & Goodman, 2015).

Several key issues exist in genetics and genomics research that need to be considered. These include, but are not limited to, consistency in findings with varying DNA technologies and analyses, the vast amount of genetic variants being discovered that are of unknown clinical application, and issues surrounding information sharing to patients and family members who may be directly or indirectly affected.

The daunting numbers of 3.2 billion base pairs of DNA, containing about 30,000 genes, came to life in 2001 when the initial sequence of the human genome was uncovered and disseminated (Lander et al., 2001; Venter et al., 2001). Because technological advances allow faster and more affordable avenues to sequencing DNA profiles, medicine is becoming more precise. However, as technology continues to unfold alongside information gathering, false positives, false negatives, and conflicting results by varying analytic approaches make determination of disease risk less precise (Rehm et al., 2015). To address these issues, protocols for standardization are being implemented along with centralized resources that can verify findings using pooled information for accurate determination of clinically relevant genetic variants (Rehm et al., 2015).