Ethical Issues in Contemporary Clinical Genetics

Abstract

As genetic sequencing capabilities become more powerful and costs decline, the reach of genomics is expanding beyond research laboratories to the wards, outpatient clinics, and, with the marketing of direct-to-consumer testing services, patients’ homes. Increasingly, patients receiving various diagnoses—from cancer to cardiomyopathy—can reasonably expect to have conversations with their providers about indications for genetic testing. In this dynamic context, a grasp of the ethical principles and history underlying clinical genetics will provide clinicians with the tools to guide their practice and help patients navigate complex medical-psychosocial terrain. This article provides an overview of the salient ethical concerns pertaining to clinical genetics. The subject is approached with an emphasis on clinical practice, but consideration is also given to research. The review is organized around the temporal and informational sequence of issues commonly arising during the course of pretesting, testing, and posttesting phases of patient care. Drawing from medical, legal, and historical perspectives, this review covers the following topics: (1) informed consent, (2) return of results, and (3) privacy and confidentiality, and intends to equip readers with an appropriate foundation to apply ethical principles to genetic testing paradigms with an understanding of the contextual landscape against which these situations occur.

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

“…As with all intensive care procedures, balancing the extreme stress of families with the complexities of an informed consent requires skill and sensitivity while incomplete understanding of new technology creates uncertainty for care providers [ 14 ]. Lack of consensus on reporting uncertainty and additional findings [ 15 , 16 ] requires careful consideration of genome-wide sequence analysis in the intensive care setting.…”

Clinical application of next-generation sequencing to the practice of neurology

“…[114][115][116] However, these companies do not operate within standard health-care environments, and the consent processes and quality of results might not conform to the stringency required in clinical practice. 117,118 Consequently, patients whose family members undergo direct-to-consumer genomic testing might find themselves (and possibly their children or other relatives) inadvertently faced with issues of heredity, paternity, carrier status, or presymptomatic mutations. These considerations must be clearly addressed when counselling patients before diagnostic testing.…”

Knowledge development, technology and questions of nursing ethics

“…There is a real possibility in the future of genetic discrimination including but not limited to loss of insurability and employment for both the patient and family members. 47,48…”

“…However, the ability to edit genes could alter humanity in ways we do not understand and which may not be good for mankind; with the possible re-emergence of eugenics and the creation of a super class able to afford the cost of genetic alteration. 47,48 This is not an issue of the future, it is of the present. World scientists have condemned the editing of the human genome, however, it may have already been attempted.…”

“…There is a real possibility in the future of genetic discrimination including but not limited to loss of insurability and employment for both the patient and family members. 47,48 There are also profound ethical implications about the use of a current technique called CRISPR which allows DNA editing. 49 Scientists are exploring how to edit genes to cure or prevent diseases such as cancer.…”