One of my jobs at Promega is to coordinate our Educational Resources Web, so I am constantly on the prowl for interesting stories that will provide fodder for a bioethics discussion, a writing assignment or a case study. Science does not exist in a vacuum, and including information that puts science in the midst of its societal context is an important part of science education.
The October 2008 issue of Smithsonian Magazine contains a fascinating article, “The Secret of San Luis Valley”, which illustrates the interesting things that can happen at intersection of science and society. This article described the experiences of several genetic counselors who worked with patients near the Colorado/New Mexico border who suffered from aggressive breast cancer. The patients, all self-described as Hispanics of non-Jewish origin, carried the BRCA1 185delAG mutation with the Ashkanazi Jewish haplotype.
The results of the initial genetic testing of 19 individuals, six of whom carried 185delAG, were published in 2003 in Cancer. The authors of the paper propose that the 185delAG mutation arose in this population as the result of a founder effect, one distant ancestor who carried the mutation. Could this ancestor have been Jewish? These results garnered the interest of historically minded geneticists.
One respondent to the original study, pointed out that the families in the San Luis Valley who carry the mutation may be descendants of Spanish Jews who pretended to or were forced to convert to Christianity to avoid persecution during the Inquisition. Many moved to the territories in North America that are now the southwestern United States. An expanded study of the prevalence of the mutation in this area supported the idea that the mutation arose from a Jewish founder in the San Luis Valley. And, further conversation with some of the families carrying the mutation revealed family stories of activities reminiscent of Jewish customs: sweeping dust into the center of the room or covering mirrors while mourning a close relative.
Many questions remain about this mutation and how it arose in this Hispanic population. Was there a Jewish founder who carried the mutation? Did the mutation arise before the First Diaspora in 70 A.D., since it is found in Sephardic and Ashkanazi Jews? But most importantly, what does the presence of this mutation mean for the affected population?
Presumably now these families will have access to early genetic testing, screening and intervention to prevent and treat devastating cancers. That is a positive development. But how is this new genetic information shaping their understanding of themselves and their ancestors? And how is it informing our understanding of history?
Science and technology are becoming more integrated into our daily lives, and all citizens, not just scientists, will grapple with new ethical challenges and social outcomes as a result. Stories like the one above present compelling real-world narratives that educators can use to teach science and emphasize the importance of having a scientifically literate society. We include such case studies in our education resources materials that we provide for educators.
If you have suggestions or requests for case study materials, we would love to hear them.