Race and health

Race and health research, often done in the United States, has found both current and historical racial differences in the frequency, treatments, and availability of treatments for several diseases. This can add up to significant group differences in variables such as life expectancy. Many explanations for such differences have been argued, including socioeconomic factors (e.g., education, employment, and income), lifestyle behaviors (e.g., physical activity and alcohol intake), social environment (e.g., educational and economic opportunities, racial/ethnic discrimination, and neighborhood and work conditions), and access to preventive health-care services (e.g., cancer screening and vaccination)[1] as well as to treatment (through lack of insurance, lack of hospitals in certain areas, etc.), among other environmental differences. Some diseases may also be influenced by genes which differ in frequency between groups, such as sickle-cell anemia, which occurs overwhelmingly among some black populations, although the significance in clinical medicine of race categories as a proxy for exact genotypes of individuals has been questioned.[2][3]

Contents

Health disparities

Health disparities refer to gaps in the quality of health and health care across racial and ethnic groups.[4] The US Health Resources and Services Administration defines health disparities as "population-specific differences in the presence of disease, health outcomes, or access to health care."[5] Health is measured through variables such as life expectancy and incidence of diseases.[6]

Single gene disorders

There are many single gene genetic disorders that differ in frequency between different popultions. Some examples are discussed below.

Cystic fibrosis is the most common life-limiting autosomal recessive disease among people of European heritage.

Sickle-cell anemia is most prevalent in populations of sub-Saharan African ancestry, but it is also common among Latin-American, Indian, Saudi Arab, and Mediterranean populations such as Turkey, Greece, and Italy.[7][8]

Tay-Sachs Disease is an autosomal recessive disorder that is more frequent among Ashkenazi Jews than among other Jewish groups and non-Jewish populations.[9]

Hereditary hemochromatosis is most common among those of Northern European ancestry, in particular those of Celtic descendent.

Lactose intolerance is another examples of single gene genetic disorders that differ in frequency between populations.[10]

Multifactorial polygenic diseases

These are many diseases which differ in frequency between different populations.

Diseases that differ in frequency among different populations.[11]
Health defined group High-risk groups Low-risk groups Reference(s)
Atrial fibrillation European Americans African Americans [12]
Carotid artery disease European Americans African Americans [13]
Coronary artery disease European Americans African Americans, West African men [13][14][15]
Dementia African Americans European Americans [16][17]
Focal segmental glomerulosclerosis African Americans European Americans [18]
Hepatitis C clearance European Americans African Americans [19]
HIV progression African Americans European Americans [20]
HIV vertical transmission European Americans African Americans [21]
Hypertension African Americans, West Africans Europeans [22][23]
Hypertensive heart disease African Americans European Americans [24]
Hypertensive retinopathy African Americans European Americans [25]
Intracranial haemorrhage African Americans European Americans [24]
Lupus nephritis with systemic lupus erythematosus African Americans European Americans [26]
Lung cancer African Americans European Americans [27]
Multiple sclerosis Europeans African Americans, Turkmens, Uzbeks, Native Siberians, New Zealand Maoris [28]
Myeloma African Americans European Americans [24]
Non-insulin dependent diabetes African Americans, West Africans, Peninsular Arabs, Pacific Islanders and Native Americans European Americans, Europeans [13][29][30]
Obesity African women, Native Americans, Pacific Islanders, Aboriginal Australians European Americans, Europeans [14][31][31]
Osteoporosis European Americans African Americans [32]
Pregnancy-related death African Americans European Americans [33]
Prostate cancer Africans and African Americans European Americans [34]
Renal disease, end stage Native Americans and African populations European Americans, Europeans [35][36]
Skin cancer Europeans   [37]
Stroke African Americans European Americans [24][38]
Systemic lupus erythematosus African Americans, West Africans, Native Americans Europeans [39]
Systemic sclerosis African Americans European Americans [40]

Disease progression

Groups may differ in how a disease progresses.

Treatment

Groups may differ in their responses to treatment.

Medicines targeted at specific races

Race-based medicine is the term for medicines that are targeted at specific ethnic clusters which are shown to have a propensity for a certain disorder. The first example of this in the U.S. was when BiDil, a medication for congestive heart failure, was licensed specifically for use in American patients that self-identify as black.[41] Previous studies had shown that African American patients with congestive heart failure generally respond less effectively to traditional treatments than white patients with similar conditions.[42] After two trials, BiDil was licensed exclusively for use in African American patients. Critics have argued that this particular licensing was unwarranted, since the trials did not in fact show that the drug was more effective in African Americans than in other groups, but merely that it was more effective in African Americans thanother similar drug. It was also only tested in African American males, but not in any other racial groups or among women. This peculiar trial and licensing procedure has prompted suggestions that the licensing was in fact used as a race based advertising scheme.[43]

Environmental explanations

In multiracial societies such as the United States, racial groups differ greatly in regard to social and cultural factors such as socioeconomic status, healthcare, diet, and education.[44] There is also the presence of racism which some see as a very important explaining factor.[45][46] Some argue that for many diseases racial differences would disappear if all environmental factors could be controlled for. See the article about race and health in the United States for a discussion of such factors. These factors may or may not be appropriate in other nations.

Ethnic minorities may also have specific health care needs which need to be taken into consideration by health services in order to tackle health disparities.[47]

Genetic explanations

Evolutionary explanations

Genes may be under strong selection in response to local diseases. For example, people who are duffy negative tend to have higher resistance to malaria. Most Africans are duffy negative and most non-Africans are duffy positive.[48] A number of genetic diseases more prevalent in malaria-afflicted areas may provide some genetic resistance to malaria including sickle cell disease, thalassaemias, glucose-6-phosphate dehydrogenase, and possibly others.

Many theories about the origin of the cystic fibrosis have suggested that it provides a heterozygote advantage by giving resistance to diseases earlier common in Europe.

In earlier research a common theory was the "common disease-common variant" model. It argues that for common illnesses, the genetic contribution comes from the additive or multiplicative effects of gene variants that each one is common in the population. Each such gene variant is argued to cause only a small risk of disease and no single variant is enough to cause the disease. An individual must have many of these common gene variants in order for the risk of disease to be substantial. More recent research indicates that the "common disease-rare variant" may be a better explanation for many common diseases. In this model, rare but higher-risk gene variants cause common diseases. This model may be particularly relevant for diseases that reduces fertility. In contrast, for common genes associated with common disease to persist they must either have little effect during the reproductive period of life (like Alzheimer's disease) or provide some advantage in the original environment (like genes causing autoimmune diseases also providing resistance against infections). In either case varying frequencies of genes variants in different populations may be an explanation for health disparities.[49] Genetic variants associated with Alzheimer's disease, deep venous thrombosis, Crohn disease, and type 2 diabetes appear to adhere to "common disease-common variant" model.[50]

Gene flow

Gene flow and admixture can also have an effect on relationships between race and race-linked disorders. Multiple sclerosis, for example, is typically associated with people of European descent, but due to admixture African Americans have elevated levels of the disorder relative to Africans.[51]

Some diseases and physiological variables vary depending upon their admixture ratios. Examples include measures of insulin functioning[52] and obesity.[53]

Gene interactions

The same gene variant, or group of gene variants, may produce different effects in different populations depending on differences in the gene variants, or groups of gene variants, they interact with. One example is the rate of progression to AIDS and death in HIV–infected patients. In Caucasians and Hispanics, HHC haplotypes were associated with disease retardation, particularly a delayed progression to death. In contrast, for African Americans, possession of HHC haplotypes was associated with disease acceleration.[54]

Controversy regarding race in biomedicine

There is a controversy regarding race as a method for classifying humans. It is either proven to be a purely social construct or a biological reality reflecting average genetic group differences. For example, the vague group named "brown" is simply the group with an unspecific skin color, not a race, just as the group with the longest toe nails is not a race as well, along with a million other possible groups.

New interest in human biological variation has resulted in a resurgence of the use of race in biomedicine.[55] The main impetus for this development is the possibility of improving the prevention and treatment of certain diseases by predicting hard-to-ascertain factors, such as genetically conditioned health factors, on the basis of more easily ascertained characteristics such as phenotype and racial self-identification. Since medical judgment often involves decision-making under uncertain conditions,[56] many doctors consider it useful to take race into account when treating disease because diseases and treatment responses tend to cluster by geographic ancestry.[57] The discovery that more diseases than previously thought correlate with racial identification have further sparked the interest in using race as a proxy for bio-geographical ancestry and genetic buildup.

Race in medicine is used as an approximation for more specific genetic and environmental risk factors. Race is thus partly a surrogate for environmental factors such as differences in socioeconomic status that are known to affect health. It is also an imperfect surrogate for ancestral geographic regions and differences in gene frequencies between different ancestral populations and thus differences in genes that can affect health. This can give an approximation of probability for disease or for preferred treatment, although the approximation is less than perfect.[6]

Taking the example of sickle-cell disease, in an emergency room, knowing the geographic origin of a patient may help a doctor doing an initial diagnosis if a patient presents with symptoms compatible with this disease. This is unreliable evidence with the disease being present in many different groups as noted above with the trait also present in some Mediterranean European populations. Definitive diagnosis comes from examining the blood of the patient. In the US, screening for sickle cell anemia is done on all newborns regardless of race.[56]

The continued use of racial categories has been criticized. Apart from the general controversy regarding race, some argue that the continued use of racial categories in health care and as risk factors could result in increased stereotyping and discrimination in society and health services.[44][58][59] On the other hand, also some of those who are critical of race as a biological concept see race as socially meaningful group that is important to study epidemiologically in order to reduce disparities.[60]

David Williams (1994) argued, after an examination of articles in the journal Health Services Research during the 1966-90 period, that how race was determined and defined was seldom described. At a minimum, researchers should describe if race was assessed by self-report, proxy report, extraction from records, or direct observation. Race was also often used questionable, such as an indicator of socioeconomic status.[61] Racial genetic explanations may be overemphasized, ignoring the interaction with and the role of the environment.[62]

There is general agreement that a goal of health-related genetics should be to move past the weak surrogate relationships of racial health disparity and get to the root causes of health and disease. This includes research which strives to analyze human genetic variation in smaller groups than races across the world.[44] One such method is called ethnogenetic layering. It works by focusing on geographically identified microethnic groups. For example, in the Mississippi Delta region ethnogenetic layering might include such microethnic groups as the Cajun (as a subset of European Americans), the Creole and Black groups [with African origins in Senegambia, Central Africa and Bight of Benin] (as a subset of African Americans), and Choctaw, Houmas, Chickasaw, Coushatta, Caddo, Atakapa, Karankawa and Chitimacha peoples (as subsets of Native American Indians).[63][64]

Better still may be individual genetic assessment of relevant genes.[65] However, until cheaper and more widely available methods of genetic analysis are commonplace, the consideration of race remains a worthwhile practice for many doctors and researchers.[44] Even when such methods become commonly available, race will continue to be important when looking at groups instead of individuals such as in epidemiologic research.[65] However, all this means is that the groups named "races" is still largely based on skin color types.

Association studies

One area in which population categories can be important considerations in genetics research is in controlling for confounding between population genetic substructure, environmental exposures, and health outcomes. Association studies can produce spurious results if cases and controls have differing allele frequencies for genes that are not related to the disease being studied,[66][67] although the magnitude of its problem in genetic association studies is subject to debate.[68][69] Various techniques detect and account for population substructure,[70][71] but these methods can be difficult to apply in practice.[72]

Population genetic substructure also can aid genetic association studies. For example, populations that represent recent mixtures of separated ancestral groups can exhibit longer-range linkage disequilibrium between susceptibility alleles and genetic markers than is the case for other populations.[73][74][75][76] Genetic studies can use this disequilibrium to search for disease alleles with fewer markers than would be needed otherwise. Association studies also can take advantage of the contrasting experiences of racial or ethnic groups, including migrant groups, to search for interactions between particular alleles and environmental factors that might influence health.[77][78]

Human genome projects

The Human Genome Diversity Project has collected genetic samples from 52 indigenous populations. This sampling has been controversial because some fear that racists might use the results, because the sampling might overemphasize genetic distinctions, because of informed consent issues, and patenting issues.[79][80][81]

Several other genome projects also studies populations from around the world but often not as diverse.

Race and health in the United States

Research on Race and health in the United States shows many health disparities between the different racial/ethnic groups. The possible causes, such as genetics, socioeconomic factors, and racism, continue to be debated.

See also

References

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