Consenting for Molecular Diagnostics

The growing use of molecular diagnostics poses a wide range of issues and questions concerning informed consent that researchers, health care providers, and others will increasingly need to address. Molecular diagnostics are advancing more rapidly than our ability to decide how best to respond to their complex medical, ethical, legal, psychological, and social implications. Although some of these issues resemble those posed by prior tests, the newness and ever-faster spread of these tests, the advent of large-scale electronic databases, and the many inherent uncertainties involved present new challenges and dilemmas that require careful attention to determine how best to proceed. Obtaining appropriate informed consent will require considerable resources, which many researchers and providers may not fully appreciate. For example, for whole genome sequencing (WGS)2 and whole exome sequencing (WES), most researchers have indicated that they were willing to spend 30 minutes or less on obtaining informed consent (1). Yet the complexity of the information involved will probably often require significantly longer interactions.As articulated in the 1946 Nuremberg Code (2), informed consent is crucial in research because it ensures that investigators respect and protect the autonomy and rights of patients and research study participants. The Declaration of Helsinki (1964; amended in 2013) and the Belmont Report (1979) extended, emphasized, and elaborated on the importance of informed consent in all of health care (3, 4). Patients and participants must ordinarily be appropriately informed about any procedures they are undergoing related to diagnosis, treatment, or research and must consent to these procedures. Subjects should not just sign a form, but understand the content, including the purpose, risks and benefits, alternative options, if any, and plans for confidentiality (5).Yet challenges arise. Consent forms often end up being too long and complicated for many participants to understand. Although most universities …