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At NSGC, Genetic Counselors Address Race-Based Medicine, Ways to Change

NEW YORK — Genetic counselors may be in a position to help address medical racism and race-based disparities in healthcare, according to a panel discussion at this year's National Society of Genetic Counselors meeting.

Medical racism can have profound effects on people's lives. Carla McGruder, a genetic counselor at Color Health, noted that it has been linked not only to high blood pressure and strained mental health but also lower life expectancy. Additionally, medical racism is not just a past but an ongoing harm that can take a number of forms, including in genetic counseling.

Race-based medicine, in which race — a social construct that might not reflect a person's genetics — is used to guide clinical decisions, for instance, can affect prenatal carrier screening, cancer polygenic risk scores, and pharmacogenomic testing in a negative way by leading to different levels of care. But, as the panelists noted, there are also ways genetic counselors can address race-based disparities in healthcare.

"Genetic counselors play key roles across genomic medicine from developing and ordering genetic tests, to variant curation and research, study involvement, to facilitating patient decision-making and educating other healthcare providers," Sally Rodriguez, a genetic counselor at Sequence46, said during a plenary session at the meeting, which was held virtually. "This means that there are many opportunities for all of us to change the processes that are perpetuating racism and healthcare disparities."

Most genetic disease research and screening has been focused on white populations, which can lead to health disparities and care differences. This extends to carrier screening, such as for cystic fibrosis, Rodriguez said. "[Cystic fibrosis] has had a lot of dedicated research due to its incidence, particularly in white populations, its severity, and its limited treatment options," she said, noting that in recent years there have been additional treatment options.

The initial screening recommendations for cystic fibrosis from the American College of Obstetricians and Gynecologists and the American College of Medical Genetics and Genomics came in the early 2000s, but there was an emphasis on screening white populations, and screening was based on a limited mutation panel. Later recommendations from those and other groups have shifted to recommend screening for all populations, and a recent ACMG statement stated that race and ethnicity should not be factors in determining screening, calling it a scientifically flawed approach. As Rodriguez noted, self-reported race or ethnicity is not always a reliable indicator of genetic ancestry.

She added, however, that a 2019 ACOG committee said that ethnic-specific, pan-ethnic, and expanded carrier screening are all acceptable screening options.

For cystic fibrosis, she noted, nonwhite infants are more likely to carry mutations that aren't included on panels, to be older at diagnosis, and to have significant health issues, and that Black and Hispanic individuals have a twofold higher risk of dying from cystic fibrosis before the age of 18.

"When we spend less resources on certain genetic diseases or certain populations, there's a downstream effect, and health disparities will inevitably arise in the carrier screening space," Rodriguez said. "Those results and things like unknown carrier frequencies and uncertain detection rates in understudied populations miss carrier status or carrier couples, and thus [represent] missed opportunities for preconception or prenatal decision-making."

Similarly, a lack of representation in research will have follow-on effects in other areas of clinical genetic testing and genomic medicine.

McGruder said that polygenic risk scores for breast cancer are increasingly being used to model risk, but that these scores — which are currently mainly supposed to be for research — are, again, based mostly on data from individuals of European ancestry. "And certainly, when it comes to PRS, we screamed and we ranted, and we continue to do so, because it leads to more inequality in breast cancer care," she said. Such inequality already exists, she noted: For example, even though Black women have a lower incidence of breast cancer than white women, they are 42 percent more likely to die from it.

Pharmacogenomic testing and the interpretation of those results are also sometimes viewed through the lens of patients' race, ethnicity, or ancestry. But that does not necessarily lead to improved healthcare for all.

For example, the presence of a certain SNP in the CYP2C cluster may mean something different for warfarin dosing if the person tested is African American versus from another background. The SNP is also found in other populations but has not been linked to warfarin metabolism in these, Elizabeth Fieg, a genetic counselor at Brigham and Women's Hospital, noted.

But there is no guideline for how to treat admixed populations, she added, noting that multiracial people are an increasing portion of the US population.

"The reasoning behind race-based pharmacogenomics testing approaches is that testing high-risk groups is a more cost-effective strategy," Fieg said. "But people can't be easily sorted into cleanly defined [race, ethnicity, or ancestry] categories."

The panelists said genetic counselors were positioned to push for changes in all these areas. Rodriguez said they could start by offering the same carrier or pharmacogenomic screening to all patients, no matter their race or ethnicity, while calling for guideline changes and pushing for increased representation of different populations in genomic databases and research studies. In turn, she said, this will increase patient access to treatments.