“It sounds like you don’t have a lot of family information.”

“No one in your family had ovarian cancer?”

“This was unexpected.”

“You have a large family. Are you sure no one had ovarian cancer?”

These are a few of the questions and statements that I encountered before, during, and after my diagnosis of a pathogenic BRIP1 mutation. My clinicians were well-intentioned, but I found myself frustrated after each question. I repeated that my family was older and from the Southern United States to try and explain each “I don’t know” I had to give in response. It was an isolating experience for me, even as a genetic counseling student. Throughout my diagnostic journey, I felt the context surrounding my family’s origins was ignored. Being African-American means that my family history is intentionally filled with question marks and incomplete answers due to the medical racism my family has and continues to face.

But what does this have to do with us as genetic counselors? 

To really understand, we need to reflect on the history of African-Americans in the medical system. The era of chattel slavery in the United States was a period of widespread atrocities committed against African-Americans. Medical experimentation was one of them. Wealthy physicians owned enslaved people not just for labor, but as bodies to experiment on. James Marion Sims, who is often seen as the father of gynecology, performed nightmarishly gruesome experiments on enslaved women and children in the 1800s (Washington, 2008). Then there’s the famous story of Henrietta Lacks, whose cells were taken and shared without her consent in 1951 at Johns Hopkins Hospital. It’s important to note that Johns Hopkins was one of the few hospitals that would treat Black patients at the time. 

Mustn't we forget the XYY study that looked to associate an extra Y chromosome with violent behavior in the 1970s. Samples were taken from juveniles during physical examinations without their consent and, unsurprisingly, the study population was 85% Black. It could take forever to list different experiments that harmed, disregarded, and used Black people for the benefits of white scientists and patients…the Tuskegee experiment, Norman-Bloodsaw v. Lawrence Berkeley Laboratory, the Pamela Fish case, the list goes on and on.

The aforementioned medical abuses left African-Americans having to choose between two evils. On one hand, most medical institutions refused to care for Black people, but the ones that did weren’t to be trusted. This led to African-Americans skipping medical care altogether and fearful of discussing medical issues. 

So what does this mean for their descendants? You guessed it, a lack of familial medical history.

Let’s come back to the present day. Medicine is quickly shifting towards preventative care and we have entered an era of genomic medicine, but this shift is leaving behind African-Americans. Studies show that even with the same level of non-genetic clinical screenings and preventative care as white patients, Black patients are less likely to undergo genetic testing (Sayler, 2023). But, unsurprisingly, the rates of testing uptake are virtually the same between the two groups when referred to genetics (Peterson, 2020). 

When talking about the lack of genetic testing utilization in the Black American community, it is often framed as an issue of medical distrust. There is no denying that the history of genetic medical abuse and racism that African-Americans have endured for centuries has contributed to the disparities we see today. Researchers have offered other explanations that offshoot from the problem of systemic medical racism. They include lower rates of private insurance coverage for Black Americans, transportation issues, and lower levels of education (Wagner, 2024). But Sayler et al. offered an additional explanation: lack of family history.

Collecting family history is essential to genetic counseling sessions. Our clinical specialty is finding those little clues hidden in the branches of a family tree. Black individuals are more likely to have less medical family history information than white individuals (Hull, 2022). This can be make-or-break when it comes to receiving referrals and actually receiving testing, particularly in the setting of cancer genetics. How many African-Americans are being missed because their family history is murky?

The history of slavery and medical racism remains a key barrier to accessing clinical genomic services that should not be ignored. The systematic abuse and exclusion of African-Americans has caused repercussions that still affect our community. My grandmother was only four years younger than Henrietta Lacks, and these repercussions almost cost me my chance at potentially life-saving genomic information.

This article’s purpose is not to garner sympathy or to try and fix the past. It is to implore non-Black genetic counselors to gain situational awareness. It is a reminder to see patients as more than the person sitting in front of you. Family history for African-Americans is not just history, it is the lineage and connections that were stolen from us. Genetics appointments can be an emotional experience filled with pain and frustration, as it was for me. I ask that everyone who reads this takes a moment to think about their African-American patients and appreciate the journey and vulnerability it took for them to be there.

“History, as nearly no one seems to know, is not merely something to be read. And it does not refer merely, or even principally, to the past. On the contrary, the great force of history comes from the fact that we carry it within us.”
~James Baldwin

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References

American Society of Human Genetics Facing Our History. (n.d.). https://www.ashg.org/wp-content/uploads/2023/01/Facing_Our_History-Building_an_Equitable_Future_Final_Report_January_2023.pdf

Hull, L. E., & Natarajan, P. (2022). Self-rated family health history knowledge among All of Us program participants. Genetics in medicine : official journal of the AHull, L. E., & Natarajan, P. (2022). Self-rated family health history knowledge among All of Us program participants. Genetics in medicine : official journal of the American College of Medical Genetics, 24(4), 955–961. https://doi-org.treadwell.idm.oclc.org/10.1016/j.gim.2021.12.006merican College of Medical Genetics, 24(4), 955–961. https://doi-org.treadwell.idm.oclc.org/10.1016/j.gim.2021.12.006 

Mills, S. (2019, May 22). Controversial ex-forensic lab analyst focus of another inmate’s appeal. Chicago Tribune. https://www.chicagotribune.com/2017/01/31/controversial-ex-forensic-lab-analyst-focus-of-another-inmates-appeal/

Peterson, J. M., Pepin, A., Thomas, R., Biagi, T., Stark, E., Sparks, A. D., Johnson, K., & Kaltman, R. (2020). Racial disparities in breast cancer hereditary risk assessment referrals. Journal of genetic counseling, 29(4), 587–593. https://doi-org.treadwell.idm.oclc.org/10.1002/jgc4.1250 

Saylor, K. W., Klein, W. M. P., Calancie, L., Lewis, K. L., Biesecker, L. G., Turbitt, E., & Roberts, M. C. (2023). Genetic Testing and Other Healthcare Use by Black and White Individuals in a Genomic Sequencing Study. Public health genomics, 26(1), 90–102. https://doi-org.treadwell.idm.oclc.org/10.1159/000533356 

U.S. National Library of Medicine. (n.d.). Norman-Bloodsaw V. Lawrence berkeley laboratory. The Federal reporter. https://pubmed.ncbi.nlm.nih.gov/11648435/

Wagner, I. M., Xuan, Z., Lu, H., & Wang, C. (2024). Racial Disparities in Accessing Care along the Continuum of Cancer Genetic Service Delivery. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 33(1), 55–62. https://doi-org.treadwell.idm.oclc.org/10.1158/1055-9965.EPI-23-0596 

Washington, H. A. (2008). Medical apartheid. Knopf Doubleday Publishing Group. 

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