THE IMPORTANCE OF DIVERSITY IN GENETIC RESEARCH
February is recognized as Black History Month. For this Black History Month, we want to take a moment to emphasize the lack of diversity and genetic representation in much of the available research in the field of genetics. This is a long-standing problem and it’s important to understand the impact of this lack of diversity.
In the past 30 years, access to a person’s genetic information has become widely available. From analyzing your ancestry to learning more about your disease risk, your DNA helps determine a lot about you and your health. As a result, access to genetic testing is more important than ever. It is used as a tool to inform medical management and identify possible inherited diseases, even before a child is born.
Although access to genetic testing has become more available, we recognize that individuals of African, Asian, Hispanic, and other ancestry groups have been represented less by genetic testing than those of European ancestry. The collection and understanding of genetic data from European groups has far exceeded that of their non-European counterparts.1 Without proper genetic reference data, this can negatively impact our understanding of someone’s genetic health, which can result in ambiguity and detrimental medical management.
Representation is important, it fosters inclusivity, inspires, and promotes a sense of belonging. At Baylor Genetics, our goal is to move forward, change the narrative, and share data to provide more insight on the lack of diversity in genetic testing. Transparency is vital in collecting genetic data, and we are determined to make testing accessible for all.
Lack of diversity is an issue where we all must come together. Historically, underrepresented groups have been negatively impacted by the medical community, resulting in mistrust and discouragement. The public must make an effort to increase diversity in genetic testing and restore trust in the medical community. Therefore, how can we do this?
WHAT CAN WE DO TO PROMOTE DIVERSITY IN GENETIC TESTING?
One of the most pertinent ways we can remedy this lack of genetic diversity beyond European communities is to promote testing and inclusive care to children, teens, and adults. Genetic testing can provide answers to health questions that other types of testing are unable to. For this reason, all groups should be aware of the availability and benefits of genetic testing.
Outreach is an important factor in spreading information about genetic testing. However, these efforts must come from a personalized place. In an article published in the Journal of Genetic Counseling, the authors found that patients need access to “culturally-appropriate educational materials” for genetic testing.2
“To bring awareness to the field, it could be helpful to start with high school kids and college students to do outreach and discuss the benefits and utilization of genetic testing so that people are aware. It is important to go to different groups and organizations to [learn] how this information could help you or your family,” said Romy Fawaz, MS, Genetic Counselor at Baylor Genetics. “Personalizing outreach and education targeted toward your audiences’ needs is a great place to start.”
Representation matters, both in marketing and testing, and historically the healthcare industry has not been transparent in their methods and motivations.
“The [genetic testing] community needs to be more transparent about what we are collecting, why we are collecting this, and how [a patient’s sample] will be used or destroyed,’” said Carli Andrews, MS, CGC, Medical Science Liaison at Baylor Genetics. “It is also important to use people from your own community to spread [awareness]. Look like the population you are trying to enroll in your study because there is a lot of mistrust for good reasons.”
Historically, this mistrust has stemmed from unethical practices in the healthcare community. To regain trust, we must use ethical practices and relay the importance of genetic testing as it can provide further insight into the possibility of inheriting certain diseases and may even improve the quality of life.
HOW CAN SHARING DATA IMPROVE DIVERSITY IN GENETICS?
It’s been over 50 years since the Civil Rights Movement and there is still disparity and inequality in healthcare that must be addressed. In 2020, a study about African genomic data was published in Nature where over 3 million genetic variants were discovered that have not been previously studied. These variants were resourced from ethnic samples whose DNA was being sampled for the first time.3
As the authors of that study mention, the data from individuals of African descent represent some of the most genetically diverse populations in the world, highlighting the importance of inclusion.
“Above everything, it involves trust,” said Allie Merrihew, MS, CGC, Genetic Counselor at Baylor Genetics. “Unfortunately, the medical community as a whole, not just genetics, hasn’t always been the most trustworthy, and it’s been really difficult to get certain populations and ethnicities to participate in genetics studies given the history of medicine and genetics.”
Genomes from individuals of African descent can provide insights into genes and variants that affect health and disease that were not discovered in earlier studies on groups of European ancestry.4 Sharing genetic data is imperative to provide more insight into complex phenotypes and disorders, and aid in further medical management. According to the National Human Genome Research Institute, “even with the high degree of similarity between any two human genomes, enough differences exist that it is not appropriate to use a single, or even a few, genomes to represent the world’s populations.”5
“I feel like a lot of treatment research and development has been targeted for conditions that have been skewed in more of the European populations,” said Merrihew. “And we don’t talk enough about how awesome some of the new treatments are for sickle cell disease and some of the more common conditions impacting other non-European populations.”
According to the Centers for Disease Control and Prevention, sickle cell disease affects 1 out of every 365 Black or African American births and about 1 out of every 16,300 Hispanic American births.8 Alternatively, cystic fibrosis, which has a higher prevalence in European populations has historically gained more funding, research, and press when it comes to treatment and medical management.
Research has proven that conducting multi-ethnic-based studies has benefited other communities. The Hispanic Community Health Study and Study of Latinos conducted a research study which identified causal factors for disease within Hispanic and Latino communities. The study found that the accuracy of identifying genetic risk factors may also be increased by considering the cultural and environmental diversity of these populations.6
With the rapid development of genetic testing, diversity within the field is becoming an increasingly important focus. Patients and providers need to be aware of current ethical issues related to this technology, such as equal access across racial, gender, and socio-economic backgrounds. To improve diversity in this area, we must strive for greater representation amongst researchers developing tests, and physicians performing them. Having experts within genetics with diverse backgrounds allows the needs of more groups to be better represented.
Furthermore, culturally aware information regarding available services must be easily accessible among all population groups via public health resources like clinics or community outreach programs. Such initiatives could help provide more equitable care by ensuring awareness about these life-changing tests without any barriers based on demographic characteristics.
PROMOTE DIVERSITY, SPREAD AWARENESS
Although genetic testing has not always been equitable and in some cases, ethical, Baylor Genetics is committed to moving forward and making genetic testing accessible for all. We stand with the National Society of Genetic Counselors (NSGC) and the American Society of Human Genetics (ASHG) organizations, who are devoted to confronting the past and moving forward by spreading awareness, improving diversity, and providing equitable genetic testing.
NSGC‘s initiative, Justice, Equity, Diversity, and Inclusion, provides a link to the Exeter Group’s assessment on NSGC. This 300-page report provides details on staff survey findings, stakeholder interviews, and focus groups aimed at addressing how to improve diversity within the genetic counseling profession.9 In addition, the NSGC has also included several other resources for supporting racial and social justice, as well as multiple educational opportunities to address implicit bias and other conversations around diversity.
In January 2023, ASHG released an advocacy statement acknowledging history and the lasting effects of racism, eugenics, and injustice in the genomics industry.7 ASHG is committed to change and utilizes their Diversity, Equity, and Inclusion Task Force to address these issues in both the genetics field and in research. They have created an action plan to identify barriers in the workforce, develop educational programs, spread public awareness, and more.
Overall, it is essential to understand that diverse patients need diverse care. Therefore, genetics research should always reflect the demographics of those in its studies and use data from people of all backgrounds — especially those historically marginalized or underrepresented.
MOVE FORWARD WITH BAYLOR GENETICS
At Baylor Genetics, we are dedicated to spreading awareness and supporting research studies focused on making genetic testing accessible to all. We believe that individuals can make empowered healthcare decisions with their healthcare providers.
We partner with the Undiagnosed Diseases Network (UDN), a research study supported by the National Institutes of Health Common Fund, as its main sequencing core for exome and genome sequencing. Additionally, with the UDN, our team of experts “provide answers for patients and families affected by these mysterious conditions” and help individuals “living with the burden of undiagnosed diseases.” Another goal of the UDN is to “contribute to the understanding of how the human body works.”10
Through this partnership, our goal is to continue to support research and foundations that make genetic testing available to all, because everyone deserves representation. To learn more about how Baylor Genetics is helping improve this disparity and make genetic testing accessible for everyone, please visit our website.
Learn more about Baylor Genetics.
References:
- Nature Portfolio. Diversity and inclusion in genome wide association studies. (2023, February). https://www.nature.com/articles/d42473-022-00070-9
- Canedo JR, Miller ST, Myers HF, Sanderson M. Racial and ethnic differences in knowledge and attitudes about genetic testing in the US: Systematic review. J Genet Couns. 2019 Jun;28(3):587-601. doi: 10.1002/jgc4.1078. Epub 2019 Jan 21. PMID: 30663831; PMCID: PMC8081647.
- Choudhury, A., Aron, S., Botigué, L.R. et al. High-depth African genomes inform human migration and health. Nature 586, 741–748 (2020). https://doi.org/10.1038/s41586-020-2859-7
- Nature 590, 209-211 (2021) doi: https://doi.org/10.1038/d41586-021-00313-7
- National Human Genome Research Institute. Diversity in Genomic Research. (2023, February).
- Conomos MP, Laurie CA, Stilp AM, Gogarten SM, McHugh CP, Nelson SC, Sofer T, Fernández-Rhodes L, Justice AE, Graff M, Young KL, Seyerle AA, Avery CL, Taylor KD, Rotter JI, Talavera GA, Daviglus ML, Wassertheil-Smoller S, Schneiderman N, Heiss G, Kaplan RC, Franceschini N, Reiner AP, Shaffer JR, Barr RG, Kerr KF, Browning SR, Browning BL, Weir BS, Avilés-Santa ML, Papanicolaou GJ, Lumley T, Szpiro AA, North KE, Rice K, Thornton TA, Laurie CC. Genetic Diversity and Association Studies in US Hispanic/Latino Populations: Applications in the Hispanic Community Health Study/Study of Latinos. Am J Hum Genet. 2016 Jan 7;98(1):165-84. doi: 10.1016/j.ajhg.2015.12.001. PMID: 26748518; PMCID: PMC4716704.
- American Society of Human Genetics. STATEMENT American Society of Human Genetics Board of Directors On The Report of the ASHG Facing Our History – Building an Equitable Future Initiative. (2023, February) https://www.ashg.org/advocacy/statement-archive/statement-american-society-of-human-genetics-board-of-directors-on-the-report-of-the-ashg-facing-our-history-building-an-equitable-future-initiative/
- Centers for Disease Control and Prevention. Data & Statistics on Sickle Cell Disease. (2023, February)https://www.cdc.gov/ncbddd/sicklecell/data.html#:~:text=SCD%20occurs%20among%20about%201,sickle%20cell%20trait%20(SCT).
- National Society of Genetic Counselors. Justice, Equity, Diversity and Inclusion Resources. (2023, February) https://www.nsgc.org/Policy-Research-and-Publications/Justice-Equity-Diversity-and-Inclusion-JEDI/DEI-Resources
- Undiagnosed Diseases Network. About the Undiagnosed Diseases Network. (2023, February). https://undiagnosed.hms.harvard.edu/
