A tiered-layered-staged model for informed consent in personal genome testing

open access

Introduction

For a few years, a new generation of so-called personal genome testing (PGT) companies has been marketing genome-wide SNP analysis and whole genome sequencing directly to consumers. These companies offer personal risks for dozens of diseases simultaneously, including cardiovascular diseases, type 2 diabetes, psychiatric conditions and many types of cancer. (Pathway: https://www.pathway.com; Knome: http://www.knome.com; Counsyl: https://www.counsyl.com; 23andme: http://www.23andme.com; deCODEme: http://www.decodeme.com) 

Consumers can obtain this information through web-based services with (Pathway: https://www.pathway.com; Counsyl: https://www.counsyl.com) or without (23andme: http://www.23andme.com; deCODEme: http://www.decodeme.com) the involvement of a medical professional in the signing off on the test order. Consumers take a cheek swab sample at home, send their sample to a molecular genetic testing laboratory through the mail and receive their genetic test results on a secure personal webpage.

Informed consent is an essential ethical requirement in genetic testing¹ and entails more than the signing of a consent form or the ticking of a checkbox.² From an ethical perspective, informed consent is a communicative process of providing intelligible, preferably tailored information, checking whether the patient—or in the case of PGT, the consumer—has understood all relevant information, complementing information found to be lacking, seeing again that all informational needs have been met, and finally, asking for informed consent. Most ethical conceptions of informed consent aim at patients’ self-determination, autonomous decision-making and right to choose,³ and at the protection against harm.⁴ As such, they are much more demanding than legal ‘narration-followed-by-signature’ conceptions of informed consent.⁵ Most ethical theories of informed consent agree that informed consent has at least three preconditions: information, comprehension and voluntariness.^6...........