to your watching Over the Gene Pool Adele Schneider

I~

believes

that aggressive outreach can reduce diseases like Tay-Sachs. By Dina Greenberg

n

school in her native South Africa and, brimming with youthful idealism, headed for the States to pursue acompleted career in genetics. nUnited 1976, Adele Schneider medical She recalls that, as a medical student, she spent a brief time working with developmentally disabled and mentally retarded children at a South African nursery school. "I just loved the kids and knew right then I wanted to find a way to help." That experience, along with a propensity for biochemistry, and a familial upbringing that was "veryjewish-centered," fueled Schneider's lifelong passIon. At the Albert Einstein Medical Center, Schneider is director of the Kaiserman Ashkenazijewish Genetic Disease Screening Program, based at the Victor Center for Jewish Genetic Diseases. Not surprisingly, her idealism hasn't hIded a bit. In fact, with the Herculean efforts of her small team, and the generous donations of the Kaiserman and Victor families, Schneider sustains a program that provides screening for eight genetic diseases prevalent in the Ashkenazijewish population (meaning those of Eastern European descen t). Schneider and her colleagues believe that with aggressive outreach efforts "which must be a part of our public health mission" - diseases such as Tay-Sachs, the childhood neurological disorder, and Cystic Fibrosis can be dramatically reduced among A~hkenazim. Althoughjewish genetic screening programs for diseases such as Tay-Sachs have been historically quite effec-

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tive since their initiation in the 1970s, Schneider insists that "continued screening is essential. People think that because this [initial] screening was successful, and there were very few babies being born then with Tay-Sachs, that the gene is gone, but this is not necessarily the case."

Founders Effect Researchers hypothesize that among populations that can trace their ancestry to a small number of foundersgroups such as the French Canadians, the Amish and the A~hkenazim - the gene defect may be passed on for generations to come. And this is true even when only a few of the original founders had or have a genetic mutation. Today, the Founders Effect theory is supported in the worldwide Ashkenazi population. An estimated one in four of the 10 million Ashkenazi j ews is a carrier of one of a number of genetic conditions rarely found in other ethnic populations, according to Schneider. A~clinicianresearchers like Schneider know all too well, some of these diseases may result in either the early death of a child or a child who remains seriously impaired. Carriers, however, are healthy and not affected by the disease. Schneicler

urges "anyone who is even thinking of starting a fami]y" to undergo carrier screenmg. The Einstein-based program screens for Tay-Sachs, Canavan disease, Gaucher disease, Niemann-Pick disease, Fami]ia] Dysautonomia, B]ood Syndrome, Fanconi Anemia and Cystic Fibrosis. These diseases are inherited in an autosomal recessive mannel: This means that affected individuals have two non-working genes. If partners are carriers for the same disease, there is a 25 percent chance of having an affected child, a 50 percent chance of the child being a carrier like themselves, and a 25 percent chance of the child neither being affected nor a carrier. Schneider believes that outreach and advocacy for carrier screening must go beyond the traditional "new]ywed packets" distributed through programs such as Einstein's. She suggests that an even more effective strategy would be to focus on younger people. "We need to reach high schoo] and college students, even before they begin to think about having fami]ies," says Schneider. In November 2004, Einstein's Victor Center held its fifth screening on the University of Pennsylvania campus. Co]laborative efforts with both Penn Hillel and Lubavitch House - including e-mail announcemenL~ and campus-wide posters and flyers - brought 179 students to Penn Hillel's Steinhardt Hall, a number that exceeded all [our o[ the program's previous, (m-campus screenings. In addition to screening, students were each offered an appointment to meet with a genetics' counselor, thereby supp]ementing the individual tollow-up letters included with their test results. Schneider envisions expanding the program, pending additional funding, to include not only the Temp]e and Drexel communities, but also Haverford and Bryn Mawr. Victor Center Outreach Coordinator Lauren Gross also meets regularly with young professionals at city-widefunctions. And she sends the center's printed materials, including the organization's signature, ribbon-tied, newlywed packets, to area wedding dress shops. The Kaiserman Jewish Genetic Disease Report distributed to people who have been

screened, as well as to obstetricians. "And rabbis frequently call upon us to provide talking points on genetic testing," says Schneider. In an even broader advocacy effort, the Victor Center hosted an early meeting of the Jewish Genetic Disease Consortium in March 2005. This group is made up of severa] national Jewish disease organizations and, as Schneider explains, will explore ways "to work more effectively together - as opposed to working only on individual agendas - to pool resources for advertising, publicity and education. We cannot work in a vacuUln." Full page ads in Jewish publications, as well as TV and radio public service announcements, are all part of the group's major outreach effort. A centralized 800number, based at the consortium's New York headquarters, is also in the works.

Jewish Bioethical Views and Genetic Testing Regard]ess of the resounding benefits of genetic testing and counseling, these services, and the even thornier issue of abortion, which is not sanctioned by halachah (Jewishlaw), still engender controversy. According to Dr. Danie] Eisenberg, a member of Einstein's department of radiology and assistant professor at ThomasJefferson University School of Medicine, "From aJewish legal perspective, abortion is only permitted due to materna] health concerns, but not for fetal indications." Referring to two standard pre nata] tests for high-risk pregnancies, Eisenberg notes, "Both CVS (Chorionic Villus Sampling) and amniocentesis raise serious Jewish legal questions, when performed for the identification of genetic defects; the fear is that an abnormal result may lead to an abortion." "Making the decision to abort a pregnancy following early prenatal diagnostics like CVS can present a challenging mora] di]emma," says Schneider, since these studies are not done early enough to consider a termination before 40 days of gestation, a ha]achic stipulation. "The opinion that the couple receives can vary widely depending upon the rabbi they are using as a resource." Advances in medica] technology, how-

ever, may provide some religiously acceptable solutions. For instance, Schneider explains, "If a couple is using the process of in vitro fertilization, then screening can be done by pre-implantation genetic diagnosis at the eight-cell stage that's three days post-fertilization." This early stage of embryonic development fits well within the 40-day guideline. "Pre-imp]antation screening," according to Schneider, "is approved by most rabbis because it goes along with the concept of 'be fruitful and mu]tiply.' It works for pretty much everybody." However, Schneider does urge would-be parents to first undergo their own genetic screening before implantation. (For a complete discussion of these issues, Schneider recommends accessing Eisenberg's extensive writings on Jewish bioethics at www.daneisenberg.com. ) Meanwhile, Schneider is looking forward to another year of record-high screenings. Though her small team has been able to prO\~descreening and counse]ing services free of charge at places like Penn since 1999, Schneider notes that "If we want to continue to provide the screenings at no cost, we will need to do addition a] fundraising." For Schneider, this is simply part of her mission. "It's true that in the work I do, I often have to give people bad news, but it's about the way you give bad news that can help people to understand their options," she says. 'The options to have healthy children have broadened." ~ Dina Greenberg last WlVtefor the magazine about the part religion can pla)' in the healing PIVCesS.

KEVY K. AND HORTENSE M. KAISERMAN ASHKENAZI JEWISH GENETIC DISEASE SCREENING PROGRAM

It's more than Tay-Sachs Carrier testing is available for all carrier of these conditions which have a higher rate in the Ashkenazi Jewish population: • Bloom Syndrome • Canavan Discase

• Fanconi Anemia • Gaucher Disease

• Cystic Fibrosis • Niemann-Pick Discase • Familial Dysautonomia' Tay-Sachs Diseasc Genetic counsehng is on important

part

if this

program.

For more information. call 215-456-8722, 1-800-EINSTEIN or visit www.einstein.edu/jewishgenetics THE VICTOR CENTER FOR JEWISH Albert Einstein Medical Center

GENETIC DISEASES

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