First Do No Harm: Caution Against the Promises of Whole Genome Sequencing in Medicine

Sequencing whole genomes is quickly extending its influence beyond scientific research into medicine. The purpose of this thesis is to connect the use of a novel sequencing technology in genetics research to the use of similar technologies to create an individualized disease risk assessment via whole genome sequencing. The goal of the research presented here is to directly assess the differences in genetic structure of the La Suerte, Costa Rica mantled howler monkey (A. palliata) groups between the forest edge and interior using microsatellite analysis. The rapid sequencing platform, Oxford Nanopore MinION, provided preliminary sequencing results to assess the inbreeding levels of mantled howler groups at the forest edge versus the interior of the fragmented forest. This research will be compiled with previous studies on howler monkey response to forest fragmentation to determine what extent howler populations are affected by human infringement and habitat fragmentation. While the sequencing results could not be used to discern genotype, sequencing platforms are increasingly being used to detect deleterious gene mutations linked to disease. Considering both the positives and negatives behind knowing genetic disease risk, I turn my attention from sequencing technologies of non-human DNA sequences to the application of advanced platforms to sequence whole human genomes. With the established genetic link to disease, whole genetic sequences are now easily analyzed for specific mutations. Knowing that genetic risk can present potentially like altering information, there are challenges that physicians, medical ethicists, and society must address in the coming era of personalized medicine