摘要：We explored the advantages and disadvantages of using ethnic categories in genetic research. With the discovery that certain breast cancer gene mutations appeared to be more prevalent in Ashkenazi Jews, breast cancer researchers moved their focus from high-risk families to ethnicity. The concept of Ashkenazi Jews as genetically unique, a legacy of Tay–Sachs disease research and a particular reading of history, shaped this new approach even as methodological imprecision and new genetic and historical research challenged it. Our findings cast doubt on the accuracy and desirability of linking ethnic groups to genetic disease. Such linkages exaggerate genetic differences among ethnic groups and lead to unequal access to testing and therapy. Throughout the 19th and early 20th centuries, race was widely presumed to have a biological basis and one that predisposed members to specific diseases. 1 , 2 Even after World War II, when the concept of race became more controversial, researchers continued to examine differences in disease susceptibility among racial and ethnic groups. 3 One persistent focus of researchers was on Ashkenazi Jews and their predisposition to autosomal recessive disorders, most notably Tay–Sachs disease. 4 , 5 Because these disorders were more prevalent among Ashkenazi Jews than others and often bore their own distinctive mutations, researchers concluded that the group was genetically unique. 4 , 6 Over the past decade, new technologies developed through the coding of the human genome have led to increased genetic research that links racial and ethnic groups to specific diseases. Investigators maintain that these categories serve as a reliable tool for sorting patterns of human genetic diversity and that they will help both to identify the genetic basis of diseases and design more effective clinical interventions. 7 – 13 Given past conclusions about the genetic uniqueness of Ashkenazi Jews, it is not surprising that genetic researchers continue to target the group. Nevertheless, in the case of breast cancer, scientific ideas that linked disease to ethnicity did not develop in linear fashion. In searching for breast cancer susceptibility genes in the early 1990s, researchers did not initially focus on Ashkenazi Jews. Only as a result of unexpected findings that followed on the discovery of BRCA1 did researchers turn their attention to the group. 14 , 15 To understand the factors that led breast cancer researchers to link Ashkenazi Jewish identity to inherited disease susceptibility we conducted semistructured interviews with breast cancer and Tay–Sachs disease researchers. In analyzing our data, we sought to identify the strengths and limitations of genetic research that focuses on a single ethnic group, the meaning of race and ethnicity for researchers, and the public health implications for the targeted group and members of other racial and ethnic groups. We also explored historical scholarship on the Jewish Diaspora experience and scientific and demographic literature on founder populations to place these findings in a broader context. Although others have considered the broader public health consequences of linking race and ethnicity to genetic traits, 13 , 16 – 19 few studies have critically examined the process by which researchers make and advance associations between groups and genes.
