"If You Knew Everything, You Wouldn't Be Here" - Nicole Weise

Going into graduate school, I knew there was a lot I didn’t know about genetic counseling, and I was eager to get started on my training. Our first semester was inundated with information about Hardy-Weinberg equilibrium, lysosomal storage disorders, and risk assessment (who knew Bayes would not be the hardest part about genetic counseling?). As we finished out the spring semester, the amount of information we’ve absorbed on hereditary cancer predisposition syndromes, genetic testing methodologies, and psychosocial interventions is enough to make one’s head spin. Some days it’s hard to keep up with everything, and even still, I know there is so much more to take in. This is not surprising: we signed up to be lifelong learners.

Despite knowing so little about the actual genetics behind genetic counseling, I thought I had a very good understanding of the basic principles of genetic counseling going into graduate school. Patient autonomy. Non-directiveness. Unconditional positive regard. Self-explanatory, no nuance. Alas, I should have known – it could never be that simple.

On Thursday afternoons from 1:00 – 1:50pm, we had the opportunity to take Ethical Issues in Clinical and Public Health Genetics, taught by Drs. Robin Grubs and Michael Deem. This class challenged my understanding of what I knew to be the basic tenets of genetic counseling. One of our first, and most impactful, lectures was on non-directiveness. Non-directiveness is perhaps one of the main defining features of genetic counseling, born out of the renunciation of eugenics. I had always thought non-directiveness was straightforward: genetic counselors have a duty to provide patients with clear and unbiased information so that patients can make fully informed decisions, free from coercion. As a result, non-directiveness on the part of the genetic counselor promotes patient autonomy and self-directiveness. But in talking about non-directiveness in practice, we were asked: can we take a truly non-directive approach in all situations? If a family does not provide a child with PKU a diet free from phenylalanine, can we remain non-directive? If cascade testing can identify a germline pathogenic variant that increases a person’s cancer risk but the proband does not want to communicate their results to their family, can we remain non-directive? At what point, if ever, should the genetic counselor step in and be even a little bit directive?

In addition to non-directiveness, this course provided us the forum to discuss relevant ethical topics in genetic counseling such as informed consent, duty to disclose, secondary and incidental findings, and consumer-driven genetic testing. I was pleased that we also discussed ethical issues raised by non-invasive prenatal screening (NIPS), a topic that is of personal interest for me. Given the non-invasive nature of NIPS, it may be increasingly seen as a standard part of prenatal care. Some, however, argue that this may diminish the informed consent process and even stigmatize a person’s choice not to pursue NIPS. Additionally, greater access to NIPS raises the possibility that it may result in fewer individuals being born with genetic conditions, and subsequently, fewer resources being invested in their health and equity in society. NIPS, therefore, has the potential to further widen disparities between abled and disabled individuals. How can we as future genetic counselors provide the best care possible for our patients when these ethical implications arise? How can we incorporate our understanding of ethical challenges into practice while maintaining a commitment towards patient autonomy and choice?

The truth is, there is not always a one-size-fits-all answer to such ethical questions. Ethics has a way of challenging our perceptions of what we ought to do, and what we ought not to do. The value of studying ethics is that we consider viewpoints that are not our own and that we recognize that not every dilemma has a right answer. It allows us to set our rigid views of the world aside and consider that things are not always as straightforward as they seem. The study of ethics has a critical role in our training: the field of genetic counseling is rapidly evolving, and we should expect ethical issues to arise and be prepared to face them head on.