An ethical framework for genetic counseling in the genomic era

Abstract

Since the inception of their profession, genetic counselors have helped patients and families adapt to varied circumstances and make decisions influenced by powerful emotions. In doing so, they have had to reconcile ethical principles with the diverse values of their patients. While this challenge is not unique in medicine, it has preoccupied genetic counselors disproportionately because such a large share of genetic counseling work involves nuanced discussions about reproductive choices and the impact of difference and disability on people's lives. Historically, the profession of genetic counseling has relied on 'nondirectiveness' to guide practice. Nondirectiveness has been defined in various ways: as a counseling method designed to be value-neutral (Caplan, 1993); as the prevention of coercion or persuasion in genetic counseling(Hamby & Biesecker, 2000); as a commitment not to impose one's own values on patients (Fine, 1993); and as a counseling strategy that supports autonomous decision-making (Bartels, LeRoy, McCarthy, & Caplan, 1997). The original ethical justification for practicing nondirectively was to respect individual patient autonomy, construed largely as non-interference in patient decision-making (Stern, 2009). This ethos grew out of a genuine respect for persons, particularly concerning reproductive choice and disability rights. The profession's emphasis on nondirectiveness has also been understood as an effort to distance genetic counseling from the morally fraught history of eugenics (Resta, 1997).

Old Challenges or New Issues? Genetic Health Professionals’ Experiences Obtaining Informed Consent in Diagnostic Genomic Sequencing

“… 1997 ; Weil et al. 2006 ; Bunnik, Janssens, and Schermer 2013 ; Jamal, Schupmann, and Berkman 2019 ). Here, too, it is useful to take a broader view of the varied goals that genetic counseling ought to promote in order to consider when non-directiveness is appropriate.…”

Re-examining the Ethics of Genetic Counselling in the Genomic Era

“…In other work, we elaborate on what such a framework for genetic counselling may look like (Jamal, Schupmann, and Berkman 2019). We propose six considerations that can help genetic counsellors implement into practice the principles of beneficence, non-maleficence, and justice, in addition to a fuller notion of respect for autonomy.…”

Ethical, Legal and Social Issues (ELSI) Associated with Non-Invasive Prenatal Testing: Reflections on the Evolution of Prenatal Diagnosis and Procreative Choices

“…Hence, the selection for non-disease genes should be encouraged even if it may contribute to increasing social inequality [ 48 ]. With NIPT poised to achieve fetal whole-genome sequencing (WGS), i.e., a growing amount of genetic information obtained from cff-DNA, such concerns are unlikely to be allayed any time soon [ 49 ].…”