Digital DNA lifecycle security and privacy: an overview

Abstract

DNA sequencing technologies have advanced significantly in the last few years leading to advancements in biomedical research which has improved personalised medicine and the discovery of new treatments for diseases. Sequencing technology advancement has also reduced the cost of DNA sequencing, which has led to the rise of direct-to-consumer (DTC) sequencing, e.g. 23andme.com, ancestry.co.uk, etc. In the meantime, concerns have emerged over privacy and security in collecting, handling, analysing and sharing DNA and genomic data. DNA data are unique and can be used to identify individuals. Moreover, those data provide information on people’s current disease status and disposition, e.g. mental health or susceptibility for developing cancer. DNA privacy violation does not only affect the owner but also affects their close consanguinity due to its hereditary nature. This article introduces and defines the term ‘digital DNA life cycle’ and presents an overview of privacy and security threats and their mitigation techniques for predigital DNA and throughout the digital DNA life cycle. It covers DNA sequencing hardware, software and DNA sequence pipeline in addition to common privacy attacks and their countermeasures when DNA digital data are stored, queried or shared. Likewise, the article examines DTC genomic sequencing privacy and security.

Challenging the utility of polygenic scores for social science: Environmental confounding, downward causation, and unknown biology

“…It also requires that subjects voluntarily provide a DNA sample. Although some may be happy to do this, it is unarguably the case that a DNA sample represents a large quantity of personal information which is potentially sensitive in a number of ways (Alsaffar, Hasan, McStay, & Sedky, 2022). An individual's genetic profile provides at least some information about their risk of a large number of health conditions.…”