This Is What I Know. Now What Can We Do? – Racial Diversity in Genetic Counseling

Bryana Rivers, Cincinnati GC Student

The lack of diversity in the field of genetic counseling is an issue that has been present since the start of the profession. However, very few studies have actually been done on the presence of underrepresented minorities (URMs) in the field. A 2008 study by Mittman and Downs about the past, present, and future of diversity in our field explains that, despite efforts to increase diversity, the field of genetic counseling is still composed of over 94% non-Hispanic, white genetic counselors. The article focused on underrepresented racial and ethnic minorities within the field, such as African Americans, Native Americans, and Hispanic Americans, quoting these groups as comprising about 2 to 3% of the profession, but about 33% of the general population. That means that our presence in the field is vastly disproportionate to our presence in the general population.

Increasing diversity in the field is important to allow individuals like me to have colleagues and mentors who look like me and so that our patients can have providers who look like them. As a black female entering the field of genetic counseling, I can only speak about my own experiences, which may not be the same for all genetic counselors who belong to a minority group. Nonetheless, I think that it’s important that I share my experiences and that others have the opportunity to share their experiences as well.

One particular experience that stood out to me occurred during my summer rotation here at Cincinnati Children’s Hospital. My patients were siblings, a black male and a black female, with diagnoses of developmental disabilities and hypotonia. They were accompanied by their mother and their maternal grandmother. Both children previously had extensive genetic testing, including panel testing, single gene testing, and microarrays, which were all either normal or had several variants of uncertain significance (VUSs). For social reasons, variant tracking in the family was not attainable. What we did know, was that one particular VUS of interest was presumed to be paternally inherited.

Our patients’ mother was hoping to get some answers from us so that she could have a definitive diagnosis for her children. Without a diagnosis, she had been struggling to access the necessary resources they needed in school. Unfortunately, for this family, we could only communicate our suspicions of what was causing the developmental disability, but we could not give them a definitive cause, diagnosis, prognosis, or recurrence risk.

At one point during the appointment, the mother had a question for my supervisor and me. She stated that she had an honest question, but that she was unsure of how to ask it without coming across as offensive. We encouraged her to ask the question anyway. She wanted to know if we, as black health care providers, have seen “other people who look like us” with the same variant found in her children. Honestly, I wasn’t sure what to say. I deferred the question to my supervisor who explained that the variant found in her children has not been previously published or described in other patients. She then went on to explain that the mother brought up a great point about VUSs in black patients. Being that we are a less-studied group, VUSs are more commonly seen in minority populations than in white populations. The patients’ mother added that she felt that there are barriers to healthcare and genetic testing in minority populations that also contribute to the lack of data and knowledge of how certain genetic variants affect our health. Afterwards, she told my supervisor and me that we have a responsibility as black women to improve our knowledge of genetic variants in minority populations while making sure that they are not being taken advantage of by the individuals conducting the research.

That was a loaded statement that I have reflected a lot on since I saw that family. In that moment I felt heartbroken for this woman who had worked so hard to obtain the best care for her children, but had so many doors closed in her face while trying to access the necessary resources. However, I also felt thankful that my supervisor and I were the ones who saw these patients because their mother was able to open up about questions she has been holding onto and challenges that she has been facing while advocating for her children.

I cannot stress enough how important it is for patients to feel comfortable, to feel heard, and to know that they will not be ignored or discriminated against by their providers based on the color of their skin. I don’t want to suggest that a genetic counselor who wasn’t black wouldn’t have listened to her, but there are factors outside of what we do and say that can have an impact on our patients. Just the fact that she was able to lower her guard a bit because we share the same racial background as her speaks volumes.

People like seeing themselves represented in their social and professional circles, including their healthcare providers. This is just one example of how increasing diversity in the field of genetic counseling can help our patients. But now the question is: Why have past efforts failed to improve diversity in the field, and what can we do to fix it?

--Bryana Rivers, 2nd Year Genetic Counseling Student