Symposium: What's in Your Gene Pool?
April 17, 2008 - Zara Myers, Jewish Exponent Feature |
| From left are agency representatives Dory Zatuchni, LCSW, CEO, Jewish Family Services of Delaware; Jennifer Weiss, executive director, JFCS/Southern New Jersey; Jack Dembow, president/CEO, JFCS of Greater Philadelphia; and Barry R. Freedman, president/CEO, Albert Einstein Healthcare Network. |
"The Jewish community needs to be roused to action," said Adele Schneider, director of Clinical Genetics, Albert Einstein Medical Center, at a recent symposium. "This needs to be a community imperative."
She was referring to an awareness of genetic diseases, the subject at the heart of the symposium. Geared for doctors, rabbis, legislators, social workers, community leaders and families, the gathering, titled "Healthy Generations -- Mobilizing Our Community to Prevent Jewish Genetic Diseases," was recently held at the Hilton Philadelphia.
The daylong event was hosted by the Albert Einstein Healthcare Network's Victor Center for Jewish Genetic Diseases, the Jewish Family and Children's Services of Greater Philadelphia, Jewish Family Services of Delaware, Samost Jewish Family Service of Southern New Jersey and a coalition of 28 sponsoring organizations.
The Victor Center for Jewish Genetic Diseases was established in 2002 by Lois Victor, who lost two daughters to Jewish genetic disease. "I wanted to spare people what we went through for 38 years," said Victor, the symposium's opening speaker.
Victor Centers provide comprehensive genetic education, screening and counseling at Einstein, as well as at Tufts Medical Center in Boston and the University of Miami's Miller School of Medicine.
Lawrence R. Shapiro, M.D., director emeritus of the Regional Medical Genetics Center of seven counties of the Lower Hudson Valley, told the symposium audience that "most genetic diseases occur in families with no prior history."
One in five of Ashkenazic Jewish descent are carriers. "If both parents are carriers for the same disorder -- although they are healthy and non-symptomatic -- there is a 25 percent chance with each pregnancy of having an affected child; a 50 percent chance of having a child who is a carrier; and a 25 percent chance of having a child who is neither affected nor a carrier."
Susan Gross, M.D., director of the Division of Reproductive Genetics, Department of Obstetrics and Gynecology and Women's Health of the Albert Einstein College of Medicine in New York, addressed the topic of "Jewish Genetic Screening: Professional Guidelines." She said that carrier screening is currently available with a simple blood test for Bloom Syndrome, Canavan Disease, Cystic Fibrosis, Familial Dysautonomia, Faconi Anemia/Type C, Gaucher Disease/Type 1, Glycogen Storage Disease/Type 1a, Maple Syrup Urine Disease, Mucolipidosis IV, Niemann-Pick Disease/Type A and Tay-Sachs disease.
Guidelines by the American College of Medicine recommend reaching out to couples before pregnancy, showing sensitivity to those being tested and providing counseling for couples at every step of the way.
"Screening is permitted, even encouraged, by Jewish law," according to Daniel Eisenberg, M.D., a staff radiologist at Philadelphia's Einstein, as well as an author and speaker on Jewish medical ethics. "In the Jewish tradition, ethics and law are inseparable."
In Orthodox Jewish communities, for example, young people are often tested when they're seniors in high school through an organization named Dor Yesharim. Only a PIN number links the sample with the person tested. Before a marriage is arranged, the organization is contacted and both PINs entered. When both carry a gene for the same disorder, plans are discontinued.
Rabbi Jeffrey Arnowitz, associate rabbi of Congregation Beth El, in Cherry Hill, N.J., and president of the Tri-County Board of Rabbis, counsels pre-wedding couples, asking if they have been tested for Jewish genetic diseases.
"Most have not," said Arnowitz. "I tell them that, by being tested before the wedding, they can have a family, without worrying about being carriers and having their children affected."
Parents and grandparents should talk to teens and young adults about testing, said the rabbi. "Synagogues can send mailings to college students about screening. Support legislation that will make insurers pay for testing. Don't close your eyes."
Government leaders have supported Jewish genetic testing and the prevention of genetic discrimination in the workplace.
Sen. Arlen Specter obtained a sizable grant from the Center for Disease Control for the Victor Center. State Rep. Daylin Leach was so impressed after meeting Peter Sonenshein, a young man with Familial Dysautonomia, that he presented House Resolution No. 26, marking the establishment of a Familial Dysautonomia Week.
Quoting Hillel, Barry R. Freedman, CEO of Albert Einstein Healthcare Network, asked a question about Jewish genetic screening: "If not now, when?"
At a session on "Advocacy and Community Empowerment: Screening in Your Community," Schneider said there are only two ways to find out if one is a carrier. "Either have carrier testing," she said, "or have an affected child. Even if a couple tests positive, there are options, such as in vitro implantation of a healthy embryo.
"The reason for screening college students is that it can be done informally and in a non-threatening way in a familiar place," Schneider continued. "Bryn Mawr did a fundraiser with a dance called 'Rock Your Genes.' Students do the planning for campus screenings. They own it."
In Pennsylvania, screenings are done at the University of Pennsylvania, the University of Pittsburgh and at Bryn Mawr and Haverford colleges, where funding is also helped by the Melvin N. and Eunice A. Miller Foundation.
Dale Mintz, founding national director of Hadassah's Department of Women's Health and Advocacy, talked about the organization's genetics education program, "It's in the Genes."
"As this project came forward, it was clear," said Mintz, "that science was way ahead of the laws needed to protect us about our genetic makeup."
The Genetic Information Nondiscrimination Act was passed by the Senate in 2003 and supported by President George W. Bush. The act would prohibit discrimination on the basis of genetic information with respect to health insurance and employment. It would establish legal protections to enable and encourage individuals to take advantage of genetic screening counseling, testing and new therapies.
Since then, the measure has not been passed by the House of Representatives.
Personal stories were shared by those affected by Jewish genetic diseases.
Stacey Feuer was diagnosed with Gaucher's Disease in 1997. It started before her college graduation with "excruciating" knee pain. She went through several misdiagnoses until a biopsy established it as Gaucher's.
When his wife was pregnant with their son Milo, 7, Richard Gladstein, a Hollywood producer and winner of two Academy Awards, said they were screened for Tay-Sachs but other testing was not suggested. When their son was born, he had surgery when he was one day old to connect his esophagus to his stomach.
His son was small and had no appetite. "We were always seeing doctors and visiting laboratories. When my wife pointed out that he had café au lait colored spots on him to a geneticist, our son was diagnosed with Bloom Syndrome."
The disease causes a compromised immune system, short stature and a high incidence of leukemia and cancer.
"I soon found out there was no treatment," said Gladstein, "so we founded the Bloom Fund, part of the Jewish Diseases Consortium, in 2004. The fund's scientific board actively recruits geneticists. The objective is to prevent cancer. So far, $1.5 million has been raised.
"If you believe there's a stigma in testing, or have a need to not know, you're out of your mind. Too many kids and young adults have died from Jewish genetic diseases. No one knew why."
For more information, call the genetics department at Albert Einstein Healthcare Network at 215-456-8722.
Freelance writer Frank Rosci contributed to this article.
