Eyes Wide Open: The Personal Genome Project, Citizen Science and Veracity in Informed Consent

Misha Angrist

Disclosures

Personalized Medicine. 2009;6(6):691-699. 

In This Article

Abstract and Introduction

Abstract

I am a close observer of the Personal Genome Project (PGP) and one of the original ten participants. The PGP was originally conceived as a way to test novel DNA sequencing technologies on human samples and to begin to build a database of human genomes and traits. However, its founder, Harvard geneticist George Church, was concerned about the fact that DNA is the ultimate digital identifier-individuals and many of their traits can be identified. Therefore, he believed that promising participants privacy and confidentiality would be impractical and disingenuous. Moreover, deidentification of samples would impoverish both genotypic and phenotypic data. As a result, the PGP has arguably become best known for its unprecedented approach to informed consent. All participants must pass an exam testing their knowledge of genomic science and privacy issues and agree to forgo the privacy and confidentiality of their genomic data and personal health records. Church aims to scale up to 100,000 participants. This special report discusses the impetus for the project, its early history and its potential to have a lasting impact on the treatment of human subjects in biomedical research.

Introduction

The idea that patients have a right to have their personal medical information kept private dates back to at least the time of Hippocrates.[1] But for research subjects in the USA, the concept of respect for privacy more recently came to the fore, especially after high-profile incidents where subjects' privacy was violated. In 1954, social scientists recorded jury deliberations surreptitiously, an act that precipitated legislation making such action criminal.[2] From 1965 to 1968, in the course of his research, sociologist Laud Humphreys secretly followed closeted homosexuals, recorded their cars' license numbers and visited them in disguise (reviewed in [3]).

In 1991, the US Department of Health and Human Services (HHS) regulations governing all federally connected research on human subjects were revised and adopted by 16 federal agencies, thereby becoming known as the 'Common Rule'.[101] The Common Rule defines a human subject as a living individual about whom an investigator conducting research obtains data or samples through intervention or interaction with the individual, or identifiable private information that could be linked back to him/her. The Common Rule also includes a description of the Institutional Review Board (IRB), whose charge at every research institution includes making sure that: 'when appropriate, there are adequate provisions to protect the privacy of subjects and to maintain the confidentiality of data'. The Common Rule requires that human subjects research that uses participants' private, identifiable information be reviewed and approved by the IRB.[101]

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