The field of genetics is rapidly expanding and becoming a centerpiece of the modern healthcare experience. Hereditary cancer genes, like BRCA1 and BRCA2, are now household terms, thanks to considerable efforts to raise awareness. Unfortunately, most of the data available to help interpret testing for these and other genes comes almost exclusively from Caucasian individuals of European ancestry. Why? What problems does this cause? And how can things change?
Although testing for BRCA gene mutations has been available since the 1990s, access to these tests continues to be a major issue. A new study from researchers at Yale estimates that 8 out of 10 individuals with an inherited BRCA1 or BRCA2 mutation in the US are still not aware that they are carriers. This is likely even more problematic for individuals from underrepresented minorities (URMs), as many studies have shown that BRCA testing occurs primarily in Caucasian individuals, despite the fact that mutation rates are remarkably similar in African American and Hispanic women as well. This disparity is likely due to multiple factors including costs, general access to healthcare, awareness of genetic testing, and mistrust of the medical system.[3,4,5,6] And while breast and ovarian cancer rates are higher in Caucasians than other groups, mortality rates from breast cancer are significantly higher in African Americans. The information gained from genetic testing, therefore, can provide huge benefit to people of any race or ethnicity.
Data from research on genetic variation, in addition to testing rates, are also very skewed. This can impact the quality of information learned from genetic testing. For example, when a person has genetic testing for BRCA1 and BRCA2, their DNA sample will contain many genetic variants, simply because we are all genetically different. Most of those variants will be benign – just normal human variations that make us unique but do not contribute to cancer risk or other diseases. If some variants are harmful and others are benign, how can we determine which ones increase a person’s risk of getting cancer? Scientists typically evaluate each variant using a combination of factors. Often they will ask:
- How is the variant predicted to impact the gene’s ability to function?
- How frequent is the variant in the general healthy population?
- Do any scientific articles in medical journals show a link between the variant and the odds of getting cancer?
Unfortunately, most of the existing data scientists will find in databases and published articles about these variants come from Caucasian individuals.[8,9] This can make it much more difficult to understand the role of a genetic variant in cancer risk for someone who is underrepresented (or in other words, not Caucasian). This leads to a higher rate of uncertain or inconclusive results in URM groups, leaving both patients and their healthcare providers in difficult positions when deciding how best to manage their care.
So how can we start to make a change? For those of us in the genetics profession, one way we can make a big impact is to focus on changing our own demographics to better represent the populations we strive to serve. The genetic counseling field, as in most of healthcare, is primarily Caucasian. According to a 2018 survey, the genetic counseling workforce is only about 1% Black/African American and 2% Hispanic/Latino(a). Recent studies make it clear we are not meeting the needs of Spanish-speaking populations in the US, and that satisfaction with genetic counseling increases if it is provided in a culturally tailored way.
To address these needs, great efforts are ongoing to increase diversity in our ranks, specifically around recruitment, networking, and awareness. Take a few examples:
- Active recruitment from minority populations is a fundamental step to increase diversity. Among many efforts along these lines, the National Society of Genetic Counselors (NSGC) Cultural Competency Subcommittee made this a focus of their 2018 goals. Representatives from NSGC will be attending the 2018 SACNAS National Diversity in STEM Conference for the first time to spread the word about this amazing field to a diverse group of young people interested in science careers.
- Students in the Sarah Lawrence College genetic counseling training program created a website, http://www.becomeageneticcounselor.org/, specifically tailored to educating prospective genetic counseling students from URM backgrounds about entering the profession.
- New genetic counseling professionals often express feelings of isolation as well as the need for mentorship and networking among genetic counselors from the same backgrounds.[13,14] Toward this end, the Western States Regional Genetics Network will be launching a new online community for genetic professionals of minority backgrounds to increase networking and foster mentoring relationships. The same group will be hosting a meet-up of the Minority Genetic Professionals Network at the NSGC Annual Conference this year.
Despite these exciting initiatives, progress is slow to change the number of URM genetic counselors. While diversity-based scholarships are available at a handful of genetic counseling training programs, more work is needed to decrease the cost and increase the number of programs available for students, especially at Historically Black Colleges and Universities (HBCUs) and Hispanic-serving Institutions (HSIs).
Although improving our own demographics is crucial, there are also many external-facing efforts that genetics professionals can support:
- Decreasing costs and simplifying access: Adopting new models, like use of telemedicine and a shared clinical model with primary care providers, are making it easier to reach people who aren’t able to access specialists to discuss genetic testing options in person.
- Providing culturally tailored care: Health literacy, cultural differences, and communication barriers pose unique challenges in the era of increasing complexity in precision medicine. A recent study of individuals in a low-income, community hospital population demonstrated a frequent disconnect between what genetic counselors feel is necessary to discuss during a session and the primary needs or concerns of the patients. In an effort to increase genetic counselors’ skills in providing culturally tailored clinical care, the NSGC Cultural Competence Toolkit offers a multitude of resources.
- Supporting diverse research efforts: Promoting research studies and recruitment efforts at our own institutions that target diverse populations, rural areas, and lower income individuals increases our knowledge and benefits the community as a whole. Studies like All Of Us, an NIH-run program to gather genetic and other data from a million participants, have specific goals to recruit from diverse populations in order to close disparities and build trust with underrepresented communities. At my own institution, Color, many additional projects are underway to study novel approaches to delivering genetic counseling, test reports, and cascade testing in ways that improve access, as well as to reveal first-of-its-kind data about our mutation rates around the globe. Color is also partnering with the UCSF Center for BRCA Research on the PHACT study, which offers free, population-based testing in underrepresented groups around the San Francisco Bay Area.
As healthcare providers, we can take an enormous first step simply by moving diversity to the forefront of our discussions, both within our own professions and relating to the patients and study participants we serve. When our conversation includes greater diversity, there is a natural shift toward the perspectives of individuals from the actual groups we are not yet fully reaching, and change cannot happen without each of us making an impact. While the efforts above are focused on closing disparities from the perspective of ethnicity, there are also many needs related to increasing access for individuals with disabilities, those in the LGBT community, and others. Health inequities are not unique to hereditary cancer genetics, but truly personalized medicine cannot be realized until these issues are fully addressed.