Thursday, August 29, 2024

Arenas-Gallo and the MolDx Transthyretin policy and Race.

 A July 2024 article in NEJM (Arenas-Gallo) questions use of race-based concepts in medicine.

What might they say about the inclusion of "African-American descent" as a Medicare policy?

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Camilo Arenas-Gallo and his co-authors argue against the use of race as a biologic category in clinical decision-making, emphasizing that race is a social construct rather than a scientifically valid basis for clinical algorithms. They express concerns that race-based recommendations in medical guidelines could perpetuate health disparities, reinforce unconscious biases, and obscure the impact of socioeconomic factors that more accurately explain differences in health outcomes.

Given these views, Arenas-Gallo might be critical of the MolDx policy's use of African American descent as a criterion for coverage in the context of molecular diagnostics for hereditary transthyretin amyloidosis (hATTR). The inclusion of race as a factor in the policy could be seen as problematic for several reasons:

  1. Biologic Determinism vs. Social Construct: Arenas-Gallo would likely question the scientific validity of using "African American descent" as a criterion, given that race does not have a clear biologic basis. He might argue that this approach risks attributing genetic or disease predispositions to race, when in reality, these should be understood through a combination of genetic, environmental, and socioeconomic factors.

  2. Potential for Reinforcing Bias: The policy’s focus on race could unintentionally reinforce biases among healthcare providers, leading them to make assumptions about patients based on racial categories rather than individualized assessments. Arenas-Gallo might argue that this could exacerbate existing health disparities rather than addressing them.

  3. Neglect of Socioeconomic Determinants: By focusing on race, the policy might overlook more significant determinants of health outcomes, such as access to care, education, and income levels. Arenas-Gallo and his co-authors suggest that socioeconomic factors often have a more substantial influence on health disparities than race itself.

  4. Inconsistency and Confusion: The use of race as a criterion could lead to inconsistencies and confusion, both for patients and healthcare providers. Arenas-Gallo would likely advocate for more universal and unbiased criteria that do not rely on race, thereby reducing ambiguity and ensuring that all patients receive equitable care based on scientifically sound factors.

In summary, Arenas-Gallo might argue that the MolDx policy should reconsider the use of race as a criterion and instead focus on more precise, non-racial factors that influence health outcomes. He would likely advocate for an approach that emphasizes individual patient characteristics and broader social determinants of health, rather than relying on race as a proxy for risk.


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But if a gene is more common in "African American" populations and therefore in guidelines, is that difference in gene frequency really an economic side effect?  Seems unlikely. 

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You're right to point out that if a particular gene or genetic variant is more prevalent in a specific population, such as African Americans, this difference isn't simply an economic side effect but rather a matter of genetic epidemiology. When a gene is more common in a certain population, this can have significant implications for disease prevalence and, consequently, for clinical guidelines.

Distinction Between Genetic Differences and Race as a Social Construct

Arenas-Gallo and his co-authors would likely acknowledge that genetic differences can indeed exist between populations, which might explain why certain diseases or conditions are more prevalent in specific groups. However, they would also emphasize the importance of not conflating these genetic differences with the concept of race, which is often used as a social and not a strictly biological construct.

The Role of Genetic Epidemiology

  • Gene Frequency: If a genetic variant associated with a condition like hereditary transthyretin amyloidosis (hATTR) is more common in African American populations, it makes sense from a medical perspective to consider this in screening and diagnostic guidelines. The frequency of such variants in a population can justify targeted genetic testing strategies.

  • Population-Specific Guidelines: The challenge, as Arenas-Gallo might see it, is to develop guidelines that recognize these genetic realities without reinforcing the idea that race itself is a biologic determinant. This requires careful language and a focus on genetic risk rather than race per se.

Balancing Precision and Equity

Arenas-Gallo might argue for a more nuanced approach that separates genetic risk factors from racial categories. This could involve:

  • Clarifying the Language: Instead of using "African American" as a shorthand, guidelines could specify that certain genetic variants are more common in people of West African ancestry, for example. This would make it clear that the focus is on genetics, not race.

  • Genetic Testing Based on Risk: Guidelines could recommend genetic testing based on known risk factors, including ancestry, rather than broadly applying racial categories. This approach would ensure that individuals at higher genetic risk are identified and treated appropriately, without implying that all members of a racial group share the same risk.

Arenas-Gallo's Likely Perspective

Arenas-Gallo might still be cautious about the use of race in guidelines, even if it's justified by genetic differences, because of the risk of reinforcing stereotypes or overlooking the social determinants of health. He would likely advocate for guidelines that are precise, focusing on genetic risks specific to certain ancestries or populations, while avoiding the pitfalls of race-based medicine. This could involve a shift towards more personalized approaches in medicine, where genetic testing and ancestry information are used to tailor care, rather than relying on broad racial categories.

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