Chapter 16: Ethical, Legal, and Psychosocial Issues in Cancer Genetic Assessment and Genetic Testing

INTRODUCTION

With excitement, we embrace the exponential growth of cancer genetics and risk assessment as it yields an increase in the identification of high-risk families and provides a more personalized approach to cancer treatment. However, this rapid growth of knowledge brings developments that have impacted important principles of ethics, legal issues, and psychosocial concerns, which in turn have directly affected the clinical care of this high-risk population. This chapter will address topics that include the healthcare practitioners’ duty to recontact; legal clarity surrounding the obligation to warn at-risk family members; and the identification of vulnerable patient groups who could benefit from added support during this revolutionary era of medicine.

ETHICAL AND LEGAL ISSUES

Though there are many ethical theories debated within the biomedical field, the two most relevant to genetic testing are ethics of care and principle-based ethics.^1,2 The focus of ethics of care is to meet the needs of, and act on behalf of, those for whom the caregiver takes responsibility for.^2,3 This theory arose in response to the rights-based theories that can overlook the realities of human dependence and thus emphasize relationships.^2–4 Principle-based ethics has been derived from broad moral principles to provide guidelines that serve as an analytic framework to resolve ethical issues. These guidelines can be used to help determine the actions that result in the greatest overall good.^1,4,5 These guidelines are broadly defined as autonomy, beneficence, nonmaleficence, and justice.^1,5

Autonomy is the understanding that each individual has a unique viewpoint and a respect for their personal decision-making.² Autonomy, in the context of biomedical ethics, focuses less on the autonomous person—a person capable of self-governance—and more on the principle of autonomous choice. Beauchamp and Childress assert that the autonomous chooser should act with (1) intent, (2) understanding, (3) and without controlling influence in their decision-making. Intent represents the most straightforward of these criteria, since one’s acts are either intentional or unintentional; however, the presence of controlling influences presents a spectrum of autonomous consent.¹ For example, children are not able to make decisions independent of parental input, but they are able to provide assent from as early as 7 years old. Children are not considered autonomous, but they are able to express intent and many Institutional Review Boards require assent for studies with child participants. Understanding is closely tied to informed consent and is based on the chooser having a full and clear understanding of the benefits, consequences, and limitations of medical care. Similarly, Uhlmann presents obligations derived from autonomy that are relevant to bioethics in the genetics field: truth-telling, confidentiality, and informed consent. Truth-telling is an important part of fidelity and promise-keeping to the patient but also pertains to the patient’s understanding of their medical care. Consent can only be valid if the communication of information is truthful.² Confidentiality and informed consent will be discussed in greater detail ...