An Exploratory Ethnographic Study of Issues and Concerns with Whole Genome Sequencing

TL;DR

This ethnographic study explores users' perceptions of privacy, ethical concerns, and attitudes towards Whole Genome Sequencing, revealing trust issues, fears of discrimination, and a desire for control over genetic data.

Contribution

It provides initial qualitative and quantitative insights into user concerns and attitudes regarding WGS, highlighting the need for further research in this area.

Findings

Users have trust concerns about WGS data

Participants fear genetic discrimination

Users want strict control over their genetic information

Abstract

Progress in Whole Genome Sequencing (WGS) will soon allow a large number of individuals to have their genome fully sequenced. This lays the foundations to improve modern healthcare, enabling a new era of personalized medicine where diagnosis and treatment is tailored to the patient's genetic makeup. It also allows individuals motivated by personal curiosity to have access to their genetic information, and use it, e.g., to trace their ancestry. However, the very same progress also amplifies a number of ethical and privacy concerns, that stem from the unprecedented sensitivity of genomic information and that are not well studied. This paper presents an exploratory ethnographic study of users' perception of privacy and ethical issues with WGS, as well as their attitude toward different WGS programs. We report on a series of semi-structured interviews, involving 16 participants, and analyze the results both quantitatively and qualitatively. Our analysis shows that users exhibit common trust concerns and fear of discrimination, and demand to retain strict control over their genetic information. Finally, we highlight the need for further research in the area and follow-up studies that build on our initial findings.