From late Wednesday morning to early afternoon, Tammy Rubin and Jessica Kianmahd welcomed people into the Grand Salon in Kerckhoff Hall to have their arms pricked and several small vials filled with blood. The blood is being shipped to the labs at Progenity, Inc., an organization that tests patients for genetic disorders. Rubin organized the screenings for Jewish-affiliated genetic disorders in order to enable people to make future decisions about having children from an educated perspective about their genetic material.
The screening event was preceded by an information session Monday afternoon at Hillel at UCLA. Over Mochi ice cream and pretzels, Angie Koehler, a representative from Progenity and the Jewish Disease Prevention Project, described the process and answered questions about screening. Progenity screens for a total of 24 Jewish-affiliated disorders among Jews of Ashkenazi (Eastern European), Sephardi (Spanish/North African) and Mizrachi (Middle Eastern) or Persian (Iranian) descent. Nineteen of the disorders are related to Ashkenazim and the remaining five to Sephardim and Mizrachim. Carrier frequency varies by disorder — for example, familial Mediterranean fever, which most severely affects Sephardi and Mizrachi Jews, has a carrier rate of one-third to one-seventh, while Tay-Sachs disease, which primarily affects Ashkenazi Jews, has a frequency of one in 31. The screenings were heavily subsidized to the cost of no more than $25 per student, including genetic counseling services before and after screening. Private testing for genetic disorders can easily run to thousands of dollars.
Nearly all people who test positive for a disorder are carriers, Koehler explained. As all disorders that patients were screened for are recessive traits, children would only be at risk of inheriting the disease itself if both parents test positive for the same disorder. Otherwise, the children would only be carriers, if they were to inherit the trait at all, and so would not develop the disease.
What about those who test positive for a genetic disorder and whose partners test positive for the same disorder? The probability of a child having the disorder is 25%. For those who do not wish to take the risk of having a child with a genetic disorder, as all of them are harmful and many can cause early death, in-vitro fertilization with selection of healthy embryos is a viable, if expensive, option, as is using genetic material from a donor. In order to help patients understand their results and potential consequences for the future, genetic counseling is advised.
That’s where the other half of Progenity steps in. Rubin selected the organization on the basis of its support for its patients. She explains that other subsidized organizations provide screening services but genetic counseling comes at an additional cost, if it is an option at all. Even though most college students are not seriously thinking about starting families at this point in their lives, Rubin said that this is information one might wish to “sit on” for a while, before the issue of children becomes more of a pertinent reality. “I want to separate the two steps [of genetic screening and having children],” she emphasized. “You’re starting a conversation about genetic screening.”
“People,” added Kianmahd, “need time to process such information, which can be surprising or shocking.”
“This is a topic our generation really needs to start considering,” Rubin said. “And what better time than in college, where revolutions begin?”