Brutes or Angels: Human Possibility in the Age of Biotechnology

5. Human Diversity, Genes, and Medicine: Richness and Dangers

5 Human Diversity, Genes, and Medicine Richness and Dangers We allow our ignorance to prevail upon us and make us think we can survive alone, alone in patches, alone in groups, alone in races, even alone in genders. —Maya Angelou, Centenary College of Louisiana address Human Diversity: The Biology This chapter is about genes, human diversity, scientific correctness, health, and biomedical research. The word race is not in the chapter’s title because this book is about science and ethics, and the concept of race is both scientifically problematic and ethically treacherous. Race is scientifically problematic because it evades a clear, agreed-­ upon definition and has little to do with biological reality. Using the term is ethically treacherous because it is so value laden. Conversations about race and genetics are easily mis­ interpreted and misused. Unfortunately, race is used frequently in research reports and other writings about human health and diversity, so the term appears within the chapter when we discuss some of those works. In the first part of the chapter, we will see what scientists have to say about race. Then we look at how scientists study human diversity, what disparities in health and health care exist, how these might be alleviated, and what opportunities the new discipline of pharmacogenomics has for improving human health. In the sec­ ond part of the chapter, we return briefly to the word race used as a proxy for human genetic variation and consider possible dangers lurking in human diversity studies. Specific questions addressed in this chapter include the following: 136 / Chapter 5 1. How real is the concept of race? 2. What is the International Human Haplotype Map Project? 3. Are identifiable groups of people more prone to certain diseases or other health problems? If so, why? 4. Do different groups of persons respond differently to certain medicines? 5. What is pharmacogenomics? 6. What ethical pitfalls accompany human diversity studies? How Real Is “Race”? We need two new terms for this discussion: genotype and phenotype. The genotype of an individual, human or non-­ human, refers to its genetic constitution . On the other hand, phenotype refers to an individual’s physical, behavioral, and psychological traits. Hair and eye color, stature, musculature , gregariousness, intelligence, and musical ability are all phenotypic traits. A person’s phenotype results from a complex interplay between geno­ type, the epigenome, and the environment. Scientists Speak Out on “Race” Whether race is a biologically meaningful term is a scientific question, so we turn to scientists and scientific or­ ga­ ni­ za­ tions for an answer. Among the faculty in my Department of Biological Sciences at Auburn University are some experts in categorizing animals, i.e., sys­ tematic zoologists, with outstanding national and global reputations. I put the question to two of them, one specializing in invertebrate animals (those with no backbones, from jellyfish and worms to octopuses and sand dollars) and the other in mammals. The invertebrate zoologist replied that race is not a concept applied to the world of invertebrates. The mammalogist said that race is seldom used in the scientific literature; and on those rare occasions when it is used, it refers to a subspecies, a geographical variant within a species. The bottom line is that modern-­ day biologists get along just fine without using race to refer to either genotypic or phenotypic diversity within species of non-­ human animals. So, biologically speaking, there is no reason to apply the term to Homo sapiens. Human Diversity, Genes, and Medicine / 137 Next we turn to a highly regarded group of scientists whose profession is to study all aspects of humanity, the Ameri­can Anthropological Association (AAA), for a scientific opinion on race. In 1998, the executive board of the AAA adopted a statement on race, drafted by a committee representing Ameri­ can anthropologists. The statement is less than three pages long and worth reading in its entirety. Here I quote sections of the statement that describe what race is not and what it is: human populations are not unambiguous, clearly demarcated, biologically distinct groups. Evidence from the analy­sis of genetics (e.g., DNA) indicates that most physical variation, about 94%, lies within so-­ called racial groups. Conventional geographic “racial” groupings differ from one another only in about 6% of their genes. This means that there is greater variation within “racial” groups than between them. From its inception, this modern concept of “race” was modeled after...