User:Misosoupley/Race and genetics

Race, genetics, and medicine[edit]
Main article: Race and health

When using genetic ancestry as a proxy for race, it is necessary to be cautious about generalizing genetic findings to entire racial or ethnic groups. (attribute the opinion (look in the author affiliations) and why this is in a narrative manner) The use of genetic racial categories in medicine can perpetuate racial stereotypes, reinforce health disparities, and contribute to the stigmatization of minority groups.

There are certain statistical differences between racial groups in susceptibility to certain diseases. Genes change in response to local diseases; for example, people who are Duffy-negative tend to have a higher resistance to malaria. The Duffy negative phenotype is highly frequent in central Africa and the frequency decreases with distance away from Central Africa, with higher frequencies in global populations with high degrees of recent African immigration. This suggests that the Duffy negative genotype evolved in Sub-Saharan Africa and was subsequently positively selected for in the Malaria endemic zone. A number of genetic conditions prevalent in malaria-endemic areas may provide genetic resistance to malaria, including sickle cell disease, thalassaemias and glucose-6-phosphate dehydrogenase. Cystic fibrosis is the most common life-limiting autosomal recessive disease among people of European ancestry; a hypothesized heterozygote advantage, providing resistance to diseases earlier common in Europe, has been challenged. Scientists Michael Yudell, Dorothy Roberts, Rob DeSalle, and Sarah Tishkoff argue that using these associations in the practice of medicine has led doctors to overlook or misidentify disease: "For example, hemoglobinopathies can be misdiagnosed because of the identification of sickle-cell as a 'Black' disease and thalassemia as a 'Mediterranean' disease. Cystic fibrosis is underdiagnosed in populations of African ancestry, because it is thought of as a 'White' disease."

Information about a person's population of origin may aid in diagnosis, and adverse drug responses may vary by group.[dubious – discuss] Because of the correlation between self-identified race and genetic clusters, medical treatments influenced by genetics have varying rates of success between self-defined racial groups. For this reason, some physicians[who?] consider a patient's race in choosing the most effective treatment, and some drugs are marketed with race-specific instructions. Jorde and Wooding (2004) have argued that because of genetic variation within racial groups, when "it finally becomes feasible and available, individual genetic assessment of relevant genes will probably prove more useful than race in medical decision making". However, race continues to be a factor when examining groups (such as epidemiologic research). Some doctors and scientists such as geneticist Neil Risch argue that using self-identified race as a proxy for ancestry is necessary to be able to get a sufficiently broad sample of different ancestral populations, and in turn to be able to provide health care that is tailored to the needs of minority groups.

Historic Context
Samuel Cartwright was a 19th-century physician and scientist who is known for his work on spirometry and respiratory physiology. Spirometry is a medical test that measures how much air a person can breathe in and out of their lungs, and how quickly they can do so. Cartwright used spirometry to compare Black enslaved people's lung function to white people's. Cartwright, drawing on Thomas Jefferson's beliefs on pulmonary dysfunction, saw a 20% quantitative difference between Black and White people as proof of deficiency that necessitated the enslavement of Black individuals.

These findings of lower lung capacity by race are present in modern medicine through the correction of race in modern spirometry machines and within most textbooks for medical school. When inputting race into the machine, patients either provide their self-identified race or it is determined by the provider. Spirometers in the US utilize population-specific standards or correction factors of 10% to 15% for Black persons and 4% to 6% for Asian people. Thus, equations derived from Black populations will yield a higher percentage of predicted lung function values than those derived from White populations, which may underestimate lung disease severity and delay detection. However, applying an equation developed from White populations to other racial groups may lead to overdiagnosis and limited eligibility for treatment due to the increased perception of risk. Research regarding the efficacy of race-based spirometry found that the race correction was only accurate for Black patients when their African ancestry was above the median between 81 to 100%. As a result, opponents of race correction say it may cause misdiagnosis and perpetuate racial prejudices by encouraging biological race. In addition, the US House of Representatives Ways and Means Committee published a report in October 2021 to end race-based clinical decision support tools, such as pulmonary function testing with spirometry.

Usage in scientific journals[edit]
Some scientific journals have addressed previous methodological errors by requiring more rigorous scrutiny of population variables. Since 2000, Nature Genetics requires its authors to "explain why they make use of particular ethnic groups or populations, and how classification was achieved". Editors of Nature Genetics say that "[they] hope that this will raise awareness and inspire more rigorous designs of genetic and epidemiological studies".

A 2021 study that examined over 11,000 papers from 1949 to 2018 in The American Journal of Human Genetics, found that "race" was used in only 5% of papers published in the last decade, down from 22% in the first. Together with an increase in use of the terms "ethnicity," "ancestry," and location-based terms, it suggests that human geneticists have mostly abandoned the term "race."

Gene-environment interactions[edit]
Lorusso and Bacchini argue that self-identified race is of greater use in medicine as it correlates strongly with risk-related exposomes that are potentially heritable when they become embodied in the epigenome. They summarize evidence of the link between racial discrimination and health outcomes due to poorer food quality, access to healthcare, housing conditions, education, access to information, exposure to infectious agents and toxic substances, and material scarcity. They also cite evidence that this process can work positively – for example, the psychological advantage of perceiving oneself at the top of a social hierarchy is linked to improved health. However they caution that the effects of discrimination do not offer a complete explanation for differential rates of disease and risk factors between racial groups, and the employment of self-identified race has the potential to reinforce racial inequalities.