Nonprofit Groups Offer Genetic Testing for Jewish Students

tsdad · 04-23-2008, 02:10 PM

April 25, 2008 Chronicle of Higher Education

Quote:

By BECKIE SUPIANO

Laura D. Rosenblatt hadn't given much thought to her genes. But then a member of her sorority at the University of Pittsburgh e-mailed her about an on-campus screening for hereditary diseases. Ms. Rosenblatt makes an effort to support her sorority sisters, so she got screened.

And, as a 19-year-old freshman, Ms. Rosenblatt found out she is a carrier — a healthy person with the recessive genes for a disease — for Canavan disease, a life-threatening illness that may cause blindness and impair motor skills.

Most people don't even consider genetic screening until they are planning to have a baby or at least get married. Yet organizations like Hillel are encouraging Jewish students to get tested long before they are even thinking about having children.

At least one in five Ashkenazic Jews, who make up the vast majority of American Jews, is a carrier for at least one of the 11 commonly screened Jewish genetic diseases. (See box below.) If both members of a couple are carriers for the same condition, there is a one in four chance that any child they conceive will have the condition.

Genetic diseases common in this population range from Tay-Sachs disease, which is fatal, to Gaucher disease, which can be managed with lifelong and expensive treatment.

At a growing number of colleges, including Pittsburgh, Brandeis University, and Columbia University, groups are offering students free or reduced-cost screenings for those diseases. Jewish leaders and public-health professionals say getting tested early will help students make informed decisions in the future.

"You can make an argument that perhaps college students are the ideal population to test," says David N. Finegold, a biomedical geneticist in Pittsburgh who is familiar with the testing offered at the university there.

Once students are 18, they are at the age of consent for medical purposes. Students can be grouped together to take advantage of discounts for screenings that are normally quite expensive. Organizations like Hillel provide a hub for a group that will soon be quite dispersed, since many young Jews do not join synagogues until they have children. And getting tested young takes away much of the pressure a couple would probably feel on the cusp of deciding whether to marry or to have a child.

"The goal is to get people before they are married or even trying to have children," says Johannah R. Lebow, outreach coordinator for the Victor Center for Jewish Genetic Diseases at the Albert Einstein Medical Center, in Philadelphia, which provides free screenings for Ashkenazic college students and couples in their first year of marriage.

Offering tests to students might seem strange to someone from outside the Jewish community, says Angela M. Trepanier, president of the National Society of Genetic Counselors. The African-American community, for example, also has a higher rate of some genetic diseases, but this larger, more genetically diverse population has been less active in organizing testing. One reason testing is so popular among Ashkenazim is that the desire to provide testing originated within the community, not from outside pressure, Ms. Trepanier says.

"As long as there is proper informed consent and there isn't pressure, there are no ethical issues," she says.

The only ethical concern, she says, is to ensure students are tested because they want to be, not because everyone else is doing it.

Far from feeling pressured, students often feel more comfortable being screened on their campuses, says Shoshana M.R. Rosen, a Pittsburgh student, who organized a screening there.

"It's so good to be in a setting like Hillel," she says. "If you have ethical questions, you have resources available." Campus screenings require students to meet with genetic counselors before being tested to discuss the process and give informed consent. Students also meet with counselors after receiving their results to discuss what they mean.

The High Cost of Knowing

The biggest obstacle to testing college students is cost. While the enzyme test for Tay-Sachs costs a few dollars, the DNA testing required to screen for the other diseases is expensive, says Adele S. Schneider, a geneticist and director of the Victor center. The screening for each disease usually costs several hundred dollars, and most people choose to be tested for either nine or 11 diseases. The screening is not always covered, even by private insurance.

The Victor center has been doing free testing on college campuses since 1999. The center exists through the philanthropy of Lois B. Victor, who lost two children to a genetic disease common among Ashkenazic Jews.

The center has screened college students in Philadelphia and Pittsburgh, particularly at the Universities of Pittsburgh and of Pennsylvania. A satellite, the Victor Program at Tufts Medical Center, has also held screenings on several campuses in Boston. The Boston site does not provide free testing but offers it at a sharply reduced cost. The center's goal is to keep expanding, with Philadelphia as the hub, Dr. Schneider says.

"It would be great if we could be everywhere, but in terms of funding and staffing it isn't possible," Ms. Lebow says.

For about a year, the Victor center has had a partnership with the Human Genetics Laboratory at the Jacobi Medical Center, in the Bronx. The lab is philanthropic, which has allowed the center to further reduce its costs. Students also hold fund-raising events on their campuses to help cover costs.

The Victor center has recently expanded to Miami, and other philanthropic groups are providing testing on campuses in New York and Arizona.

But such opportunities do not exist everywhere. There is "nowhere to get Jewish genetic testing in Louisiana," says Yonatan Platt, a senior at Louisiana State University at Baton Rouge, who has considered getting screened while on a trip to the Northeast. "It's very important to get to schools with smaller Jewish populations," he says.

While philanthropists, Jewish students, and community leaders support testing, it may not be for everyone. Some students express concern that being a known carrier for a disease, while it has no effect on their health, could somehow hurt them in terms of insurance or employment. Others simply may not want to know.

Dr. Schneider recalls a student at the University of Pittsburgh who told her he wanted to be tested but didn't want to hear his results. She told him he might not be ready, and the student, who was 19, did not get tested that day.

But for this generation of Jewish students, the idea of getting tested young seems to be catching on. Ms. Rosenblatt recalls her parents' surprise when she told them she planned to be tested. They had been screened for Tay-Sachs in the 1970s — the only screening that existed at the time — and didn't see why she needed testing.

But Ms. Rosenblatt, now a sophomore, is glad she learned she's a carrier for Canavan disease. She now knows that down the road, she would want a potential husband to be tested to see if he, too, is a carrier. If so, they'd weigh their options.

But right now, she says, it "shouldn't really affect my lifestyle."

FUTURE RISK DECODED

The Victor Center for Jewish Genetic Diseases at the Albert Einstein Medical Center, in Philadelphia, and the Victor Program at Tufts Medical Center, in Boston, screen college students for nine of the 11 most common genetic diseases in the Ashkenazic Jewish population. Most American Jews are Ashkenazim.

Bloom syndrome increases susceptibility to infections and respiratory illness and increases the risk of leukemia and other cancers. Many with the disease die at early ages, though some live into their 40s. About one in 100 Ashkenazic Jews is a carrier.

Canavan disease causes babies to lose motor skills and visual attention before they reach six months of age. They may become blind or have trouble swallowing. Many with the disease die in childhood, though some live to be young adults. About one in 40 Ashkenazic Jews is a carrier.

Cystic fibrosis causes a buildup of thick mucus in the lungs, leading to trouble breathing and increased risk of serious lung infections. The symptoms can be treated, but the disease has no cure. About one in 25 Ashkenazic Jews is a carrier — the same rate as in the wider Caucasian population.

Familial dysautonomia causes malfunction of the autonomic and sensory nervous systems. A common symptom is lack of tears even with emotional crying. There are treatment options, but life span is still shortened. About one in 30 Ashkenazic Jews is a carrier. This disease has not been found outside the Ashkenazic population.

Fanconi anemia (Type C) causes bone-marrow failure, leading to a high rate of cancer. There are treatments, but those with the disease rarely live to adulthood. About one in 89 Ashkenazic Jews is a carrier.

Gaucher disease causes enlargement of the spleen, anemia, and a low white-blood-cell count. It can be treated, but treatment is expensive and lifelong. Life expectancy may be shortened. About one in 14 Ashkenazic Jews is a carrier.

Mucolipidosis IV causes motor and mental delays, and possibly blindness. It ultimately leads to mental retardation and early death. About one in 100 Ashkenazic Jews is a carrier.

Niemann-Pick disease leads to buildup of fatty deposits in the spleen, liver, lungs, bone marrow, and possibly the brain. Few with the disease live past the age of 3. About one in 90 Ashkenazic Jews is a carrier.

Tay-Sachs disease causes the progressive degeneration of the central nervous system. Affected children do not progress developmentally past the first few months of life and then regress from that point. They usually die by the age of 4. About one in 25 Ashkenazic Jews is a carrier.
SOURCE: The Victor Program
The Chronicle of Higher Education
Section: Students
Volume 54, Issue 33, Page A26

garland · 04-23-2008, 02:25 PM

Interesting information, Tsdad. You know, I've been told both on this board and elsewhere that I can't be "half Jewish" because it's a religion, not an ethnicity, but apparently one's genes may say otherwise.

dg5052 · 04-23-2008, 02:26 PM

This is very interesting--and a very worthy effort.

Chedva · 04-23-2008, 06:06 PM

garland, it's only in the last 20 years or so that "Jewish" became only a religion. Anti-Semitism isn't focused at a faith. (Wonder if had anything to do with the rise of AA that "Jew" was no longer a minority.)