A Revised Model for Informed Consent in Predictive Genetic Testing

This dissertation develops a revised model of informed consent for PGT. The need for this model arises from distinguishing characteristics of PGT, which make it distinctive from other forms of health-related testing. These characteristics are: the difficulty in understanding genetic risks and probabilities; the problem of treatment options for diagnosed genetic traits; and the concern with family-related genetic information. The first chapter explains PGT to identify these characteristics that shape the revised model of consent. The second chapter explores the history of consent to identify the widely recognized components of consent (understanding, disclosure, and voluntariness) that represent the current model. The third chapter explains the revised model by aligning the three distinguishing characteristics of PGT with the three widely recognized components in the current model. At the end, the revised model is applied to direct-to-consumer and pleiotropic genetic testing. To explain the significance of the revised model of consent, the following main categories are discussed. First, PGT involves a risk analysis of the related probabilities that can be complicated for patients to comprehend. This point develops the importance of understanding in the current model. Risk assessment involves calculating probabilities to determine the likelihood of developing a disease. To accomplish this, the relation between autonomy and comprehension is crucial. The current model uses an approach to autonomy that is standardized and generic, focusing on consent by providing a signature to accept or reject a test. The revised model enhances patient involvement by adopting a more extensive approach, described as a process rather than as an event. Typically the current model does not offer a large amount of time to comprehending risk assessments. The additional time and complexity involved in comprehending the connection between risk and probability has significant implications for patient education by the doctor, thereby developing the meaning of the doctor-patient relationship. For example, the emergence of the so-called Nocebo Effect needs to be considered here. Second, there are complex treatment options, including no treatment for some diseases, that require genetic counseling to select an appropriate option. This point develops the importance of disclosure in the current model. Typically the current model emphasizes appropriate disclosure of information. The revised model takes this further and recognizes that this disclosure needs to be accompanied with genetic counseling both before and after testing to enhance decision making about a suitable option. Appropriate genetic counseling must include patient assessment and feedback mechanisms. Third, PGT involves family-related information with accompanying implications that can compromise voluntariness. This third point develops the importance of avoiding coercion of both the patient and the patient\u27s family when information is presented. The third distinctive characteristic of PGT is the relevance of genetic information for the patient\u27s family. In the current model, family-related coercion is often difficult to identify. The revised model ensures voluntary consent by establishing procedures to avoid two forms of coercion: pressure by the family for the patient to be tested (eg, if there is a family genetic trait already known, there can be pressure upon a child to be tested to ascertain if s/he is a carrier etc); and pressure upon the family regarding the testing outcome (eg, if a trait emerges that affects other siblings, a process needs to be undertaken to ascertain whether the sibling wants to know). The revised model of consent requires an additional component to the traditionally recognized three components (comprehension, disclosure, voluntariness): the culture of patient safety. That is, the revised model of consent enhances the traditional components of consent within a medical culture that emphasizes patient safety. This safety culture requires nationally established systems of accountability for PGT that implement the revised components of consent in a transparent manner to foster trust in the emerging system of genetic-related services