Wednesday, January 11, 2012

In Development: Jews of Sephardic and Mizrahi Heritage

The JGDC is currently in the process of revising our educational materials, including this website, to cover genetic diseases of concern to persons of Sephardic (Mediterranean) and Mizrahi (Persian and Middle Eastern) Jewish heritage. If you are of Sephardic or Mizrahi heritage and are pregnant or considering starting a family in the near future, you should seek advice regarding appropriate genetic screening from your doctor, a genetic counselor, or a hospital-based genetics program.

Saturday, October 29, 2011

When Carrier Screening is Wrong

Tuesday, September 6, 2011

JGDC launches Rabbi Education Program

photos: Steven Rosen

On October 21st, 2010 the JGDC launched “Couples Aware”, a Rabbi Education Program presented in partnership with the NY Board of Rabbi’s (NYBR) and the UJA.

‘Couples Aware’ was created to better educate rabbis so that they may in turn inform their constituents, particularly young couples in pre-marital counseling, about the risks of Jewish Genetic Diseases and to encourage them to seek complete genetic screening prior to pregnancy.

The JGDC Rabbi Education Program consists of a physician or genetic counselor led a 45-minute seminar, a personal story from an individual with a family member afflicted with a Jewish Genetic Disease, and a rabbi led discussion and Q & A session.

Speakers at the Park Avenue Synagogue launch included: Rabbi Elliot Cosgrove, Chair of this programs’ Rabbinic Advisory Committee and leader of the Park Avenue Synagogue, Rabbi Joseph Potasnik, Executive Vice President NYBR, John Ruskay, Executive Vice President and CEO of UJA-Federation NY, Dr. Harry Ostrer, Professor and Division Director of Human Genetics Departments of Pediatrics and Pathology, NYU Langone Medical Center, and Randy Yudenfriend-Glaser, Chair of the JGDC

In attendance at the event were rabbis of all Jewish faiths from the NY, CT and NJ areas. The launch included a training session and Q&A moderated by Dr. Susan Klugman, Director of the Division of Reproductive Genetics at Montefiore Medical Center) and Rabbi Deborah Bravo of Temple Emanu-El in Edison, New Jersey.

Rabbi Education Program: In the News

The Jewish Week (NY): “Training Rabbis To Promote Screening”

On NBC’s New York Nightly News with Chuck Scarborough, Rabbi Joe Patasnik (Executive Director, New York Board of Rabbis) and Randy Yudenfriend Glaser (Chair, JGDC) discuss the JGDC Rabbi Education Program

courtesy, NBC NY Nightly News

Friday, August 26, 2011

Dramatic progress in in-vitro detection spurs new push for Ashkenazi Jews to do genetic disease test (JTA)

By Hillel Kuttler · August 24, 2011

WASHINGTON (JTA) — Susan and Brad Stillman grew concerned following their son Benjamin’s birth in September 1998. He was fussy and congested, had difficulty breastfeeding and didn’t take to the bottle.

The parents brought him to the pediatrician and then to a hospital pediatric care unit near their home in Rockville, Md., a suburb of Washington.

Benjamin soon was diagnosed with Riley-Day syndrome, now called familial dysautonomia, a genetic disease of the autonomic nervous system that disproportionately strikes Ashkenazi Jews.

When the Stillmans got married in 1995, they were tested for Tay-Sachs disease, the only genetic disease prevalent among Ashkenazim for which screening was available, and neither parent was found to be a carrier or to have the disease.

“Ignorance was bliss,” Susan Stillman said. “We had no idea we were carriers for FD.”

Today, tests are available for 19 chronic conditions that are known as Jewish genetic diseases, including familial dysautonomia. Testing capabilities have risen dramatically: Just one year ago, individuals could be tested for 16 conditions; in 2009, the number was 11. Among those conditions, in addition to FD and Tay-Sachs, are cystic fibrosis, Gaucher disease, Canavan disease and Niemann-Pick disease.

Organizations dealing with Jewish genetic diseases are intensifying their efforts to educate Ashkenazim of childbearing age about the need to be screened for all 19 conditions with a single blood test, and to update tests that have already been conducted. The experts view this as a serious communal health issue, with one in five Ashkenazim estimated to be a carrier of at least one of the 11 diseases that could be tested for in 2009.

A study by New York University’s Mount Sinai School of Medicine in Manhattan found that significant numbers of New York-area Ashkenazim —one in every 3.3 — are carriers of at least one of the 16 diseases tested for last year.

A carrier rate of one in 100 for an individual disease would be “of concern,” said Dr. Adele Schneider, director of clinical genetics at Philadelphia’s Victor Centers for Jewish Genetic Diseases.

As with any genetic disease, when both parents are carriers, each of their children will have a 25-percent likelihood of being affected; the more diseases for which each parent is a carrier, the greater the odds of the children being affected.

“If you and your spouse find out that you’re carriers, you may not want to take that one- in-four chance,” said Karen Litwack, director of the Chicago Center for Jewish Genetic Disorders. “It’s a terrible ordeal for parents to go through. From a Jewish community standpoint, there’s a general consensus that education and outreach will, hopefully, prevent this kind of thing from happening.”

Experts in Jewish genetic diseases are seeking to promote awareness of the potential problems, because screening before a pregnancy can offer options for preventing or dramatically reducing the chance of a child being born with a disease. The four main alternative options are utilizing a sperm donor; utilizing an egg donor; pre-implantation genetic diagnosis (in-vitro fertilization of the mother’s egg, analysis of the embryo, and implantation only if the embryo is healthy); and even aborting a fetus affected by both parents’ disease-carrying genes.

“Screening is protecting future generations,” said Randy Yudenfriend-Glaser, who chairs the New York-based Jewish Genetic Disease Consortium. She is the mother of two adult children with mucolipidosis type IV, one of the known Jewish genetic diseases.

“When you’re young and getting married, you don’t want to know about it because it’s scary,” she said. “But you should want to know about it.”

Experts also emphasize the need for each carrier to be screened prior to each pregnancy to account for additions to the screening panel in the interim.

Several organizations are expanding their outreach to rabbis and Jewish communal leaders to enlist their help in persuading prospective parents to get tested. Even doctors don’t push sufficiently for testing, representatives of these groups say.

The Victor Centers’ survey in April of 100 Atlanta-area obstetricians, gynecologists, primary care physicians and pediatricians found that only 51 percent routinely recommend preconception screening, and just 34 percent recommend updated screenings between pregnancies. Not a single respondent reported recommending screening for more than six of the 19 known diseases.

The findings were “stark” and “very worrisome,” said the Victor Centers’ national project director, Debby Hirshman.

The agency’s Atlanta branch has secured the agreement of area rabbis to distribute fact sheets to the 17,000 congregants expected to attend High Holiday services next month.

The Jewish Genetic Disease Consortium, with the support of the New York Board of Rabbis, last September inaugurated a clergy awareness program.

Several rabbis have taken the effort to spearhead educational efforts into their own hands. Rabbi Peter Kasdan, a Reform rabbi from New Jersey who has moved to Florida in retirement, has made it a requirement that couples undergo testing before he performs their weddings. Rabbi Larry Sernovitz of Philadelphia’s Old York Road Temple-Beth Am, whose son was born with familial dysautonomia, successfully lobbied the Union for Reform Judaism to host a session on Jewish genetic diseases at its upcoming convention in Washington. Rabbi Joseph Eckstein, who lives in New York, lost four children to Tay-Sachs disease, and in the 1980s he founded Dor Yeshorim, a Brooklyn-based organization that promotes screening in Orthodox communities.

In August, the Victor Centers rolled out an iPhone and iPad application it has developed with information on Jewish genetic diseases.

The outreach efforts mean a lot to Stillman. Last week, she spoke about her situation during a panel discussion at the 31st IAJGS International Conference on Jewish Genealogy in Washington. Stillman described her son as a sweet, loving child. Benjamin, who is entering the eighth grade, plays piano and plans to celebrate his bar mitzvah in September. But he’ll always have to eat through a feeding tube and to receive daily medication.

Stillman isn’t sure if Benjamin can live independently, marry or have children.

“I don’t know how long my child will live. I can’t look too far down the road — only half the kids live to age 30,” she said of those diagnosed with familial dysautonomia. Her presentation at the genealogy conference, Stillman said, had one goal: raising awareness.

“It can happen to you,” she said. “I am a regular person. It happened to me.”

Friday, July 29, 2011

“It’s Not Just Tay-Sachs, 3 New Screening Tests Available As JGDC Trains More Rabbis And Reaches Out To Intermarried” … Article from Jewish Week

This article originally appeared in the JEWISH WEEK, (May 20, 2011 issue)

Three new screening tests for diseases available as Jewish Genetic
Disease Consortium trains more rabbis, reaches out to intermarried.

Amy Spiro

Editorial Assistant

Tuesday, May 17, 2011

 

Brad and Maxine Fisher with son Sam, 8 and daughter

Shira, 5, who suffers from Spinal Muscular Atrophy.

 

When Shira Fisher was just 4 months old, her parents already knew that something was wrong. She had frequent problems with choking and serious “physical developmental delays,” said Brad Fisher, Shira’s father and full-time caretaker.

Her parents brought her to several different doctors, before she was finally diagnosed (with the help of Brad’s Internet research) with Spinal Muscular Atrophy, Type 1. SMA affects the motor neurons that control voluntary muscle activities, like walking and swallowing, and causes their degeneration. Cognitive abilities are generally not affected.

At the time of Shira’s diagnosis, “we’d never heard of it,” said Fisher, who was told by doctors that Shira had little chance of surviving past the age of 2, and that he — and mom Maxine and big brother Sam — should “take her home and love her.” The family refused to give up, pursuing experimental treatment and therapies, and Shira will turn 6 next month.

The Fishers did no genetic screening before getting married or having children. “It wasn’t on our radar,” Brad said. But today SMA is one of three new diseases recently added by the Jewish Genetic Disease Consortium to a growing list of conditions for which Jews should be genetically tested.

The JGDC now recommends that any couple in which one member has an Ashkenazic Jewish grandparent be tested for 19 separate conditions, up from 16 last year. When the organization was launched six years ago (though Jews had been tested for years before it began), it recommended testing for 11 disorders. Over the past six years, that number has grown as new screenings and tests became available. New to the list are SMA, Joubert Syndrome Type 2 and Walker-Warburg Syndrome. These diseases are not newly discovered, or recently linked to the Ashkenazic population. But since screenings for the genetic mutation for all three only became widely available this year, the JGDC is now cautioning Jews and others to take advantage of the tests.

While the medical advisory board “has known about these diseases” for a while, said Randy Yudenfriend-Glaser, chair of the JGDC, “unless you can screen, there’s nothing to do.” She also noted that couples who have been screened in the past, and are planning to have more children, should get re-tested for these disorders. And she wouldn’t rule out the list of recommended tests growing in size. “It’s never going to shrink because the diseases don’t go away,” she said. “People think we’ve wiped Tay-Sachs out of the population, but we haven’t; we’ve tested it out.” Carriers of the disease are still common in the population. The medical advisory board of the JGDC bases its decisions “on carriage rate, but also on the severity of disease,” said Yudenfriend-Glaser.

Randi Chapnik Myers knows firsthand just how devastating Walker-Warburg Syndrome can be. She and her husband were screened for Tay-Sachs before having children. When their first pregnancy, in 1995, ended after doctors said the baby would not survive beyond birth, they thought it was a fluke. And after having two healthy children, the Toronto family never imagined the problems that would ensue. Chapnik Myers lost twin babies in 2000, and then a third the next year. Doctors made a diagnosis of Walker-Warburg in two of the three fetuses. “Not only had I never heard of it,” said Chapnik Myers, “I was told after my first loss that it wasn’t genetic.”

She hopes that the new availability of screenings can help other women avoid her pain. “Having to wait until 20 weeks to be diagnosed, having a formed fetus growing inside of you, a human being, and moving in to maternity clothes and planning for a child” was incredibly difficult, said Chapnik Myers. “Going through seven deliveries for three children [the third child was born after all of the losses] was a strain emotionally and very physically.”

Since 2005, the JGDC has been reaching out to families, through its community outreach program, and to physicians, with its Medical Grand Rounds Program, hoping to spread awareness of the need for genetic testing in the Ashkenazic Jewish community. Last fall, as reported in this paper, the JGDC launched its Rabbi Education Program, aimed at urging rabbis to discuss genetic screening with couples during pre-marital counseling.

“[It] was the missing link which really rounds out our program,” said Yudenfriend-Glaser. To date more than 150 rabbis across the tri-state area have attended a seminar run by JGDC, and signed a “rabbi pledge,” promising to discuss genetic diseases with young couples.

Recent training events include sessions in Buffalo and Monroe, N.Y., as well as at the Jewish Theological Seminary earlier this month. JGDC is working on developing an online system for rabbis to be trained. Those who already took part in the sessions will receive updated information about the newly added diseases.

The JGDC’s goal is to combat the major misconceptions about Jewish genetic diseases — one of which is that intermarried couples don’t need testing. To that end they are also developing means to reach interfaith couples to raise their awareness.

One of the messages the JGDC deems most important is, “It’s not just Tay-Sachs,” said Yudenfriend-Glaser. Even as she tours synagogues and Jewish centers today, Yudenfriend-Glaser encounters people who are unaware of the dire necessity for genetic testing. She met with a rabbi this year “and he told me, ‘we don’t have any of that in our lineage.’ I did a double take,” she said. “You hear this from educated people; they really don’t realize how much is out there.”

Most importantly, she said, “people need to be advocates for themselves. They should go in armed with a list of the tests and say this is what I want done.”

Read more about Shira Fisher at asonginthisworld.com and learn more about the work of the JGDC at jewishgeneticdiseases.org.

Thursday, June 16, 2011

Chicago Center for Jewish Genetic Disorders increases testing to 19 disorders

Ten more ways to help your future family

By Esther Bergdahl

Friday, May 6, 2011

Our work at the Central Conference for American Rabbis (CCAR)

On March 29, 2011, the Jewish Genetic Disease Consortium presented its COUPLES AWARE clergy training program at the Central Conference of American Rabbis (CCAR) conference in New Orleans. The program was introduced by Rabbi Deborah Bravo, of Temple Emanu-El, in Edison, New Jersey, and by Randy Yudenfriend Glaser, chair of the consortium, and a parent of two children with ML4. Orren Alperstein, President of the Canavan Foundation, who spearheaded the development of the clergy program, gave a personal plea – she and her husband lost a child with Canavan disease – for rabbis to counsel couples about the need and availability of screening and then showed moving video clips about two families who’ve struggled with two of the diseases. She introduced Chris Dvorak, a genetic counselor from Tulane Medical Center introduced to the consortium by our colleagues at Genzyme, who ably delivered the genetics portion of the training. Rabbi Peter Kasdan, the JGDC’s rabbinic advisor, led a brief discussion about how to counsel young couples about the availability and need for screening. He is available to answer any further questions: 941 387-2188 or pekonbase@verizon.net.

In addition to our regular training program, the rabbis in attendance heard from Rabbi Larry Sernovitz whose two and a half year old child has been diagnosed with FD (familial dysautonomia). He spoke movingly and compellingly about his experience with the testing process, as well as the need for the CCAR to move advocacy about pre-pregnancy screening to the top of its agenda. There was much discussion among the rabbis about how to accomplish this goal.

All the rabbis in attendance indicated in their follow-up surveys that they’d found the training program to be helpful. They left with the materials that have been developed: a Rabbi Learning Guide, a checklist for rabbis, and brochures for couples and congregants. Additional brochures are available from the consortium – call our hotline: 855 642-6900 or email us: info@jewishgeneticdiseases.org

If you would like the Jewish Genetic Disease Consortium to bring the COUPLES AWARE training to a local Rabbinic Association meeting in your community, or to provide an information session for your congregants or young families in your early childhood centers, we would be happy to discuss these options. You can contact us at the phone number or e-mail address above.

Please read more about COUPLES AWARE and our work with Rabbis on the “For Rabbis” section of this website.

Thursday, May 5, 2011

The Need for Genetic Testing for Interfaith Couples

There is a common misconception that a couple in which one member is not of Ashkenazi Jewish heritage need not worry about Jewish genetic diseases. On the contrary, interfaith couples should plan to have carrier screening done prior to pregnancy.

The nineteen devastating genetic diseases found more commonly in the Ashkenazi Jewish population are not confined to this population; they are found in other ethnic groups as well, although generally less frequently. This means that even a non-Ashkenazic Jew, or a non-Jew, may be a carrier of one or more of these 19 diseases.

Therefore, it is recommended that IF ONLY ONE GRANDPARENT OF THE COUPLE WAS OF ASHKENAZI BACKGROUND THE COUPLE SHOULD BE SCREENED FOR THESE DISEASES. The screening takes in the form of a simple blood test.

The following carrier screening protocol should be followed: the member of

the couple with the Ashkenazi background should be screened first. If he or she is found to be a carrier, a genetic counselor will be able to recommend the proper screening for the spouse/partner.

If both members of the couple are carriers of a mutated gene for the same genetic condition, there is a 25% chance – with each pregnancy – of having an affected child, a 50% chance that a child will be a carrier of the disease, and a 25% chance the child will be neither a carrier nor affected.

All nineteen diseases are devastating conditions. They vary in terms of carrier frequency, how they affect the body, symptoms, affect on the quality of life,  age of onset, affect on lifespan and availability of treatments or therapies. Several of the diseases invariably lead to the death of a child in the first few years. All have physical manifestations. Some have treatments available for symptoms. Only one disease is treatable by an enzyme replacement therapy.

Monday, March 21, 2011

Getting Tested: Why College Kids Need to Know Now

This article, from HILLEL: The Foundation for Jewish Campus Life, discusses the importance of Jewish genetic testing for College age kids.

Hillel article: Getting Tested – Why College Kids Need to Know Now

February 21, 2008 

Freshman year, Shoshana Rosen took a test that determined her future.

While working as a camp counselor in Pennsylvania, Rosen participated in a genetic screening program run by the Victor Center for Jewish Genetic Diseases in Philadelphia. The test revealed that Rosen carries the gene for Cystic Fibrosis (CF), an inherited chronic disease that affects the lungs and digestive system of about 30,000 people in the United States. CF is one of many fatal genetic diseases prevalent among Ashkenazi Jews (Jews of Eastern European descent).

Jonathan Finger and Shoshana Rosen.

As a carrier, Rosen has a 25 percent chance of producing an affected baby if her future husband is also a carrier for CF. Rosen’s plans to marry Jewish put her at an increased risk for passing on the genetic disorder.

That’s because 1 in 4 Ashkenazi Jews is a carrier for a Jewish genetic disease which could be as treatable as Gaucher’s DiseaseType 1 or as devastating as Tay-Sachs Disease for which there is no cure. Babies born with Tay-Sachs usually die before the age of 5. Without prior screening, young couples run the risk of being genetically incompatible and facing heartbreaking consequences.

When Rosen learned all this, she took the cause of genetic testing awareness to heart and in 2006, her senior year at the University of Pittsburgh, she brought the Victor Center to campus to educate students about Jewish genetic diseases. Nearly 200 young people, including Rosen’s boyfriend, received genetic counseling and were screened for nine different diseases free of charge. Rosen’s boyfriend tested negative for the CF gene.

Rosen is now 24 years old and working as the youth director at a Reform temple in Delaware. She and her college boyfriend, Jonathan Finger, are still dating and can consider marriage free of fear from transmitting CF to their children.

 

 

“The good thing about getting testing young is that it’s of such low consequence,” says Rosen.

“What about couples who get tested when they are already engaged? What do they do then?”

Dr. Adele Schneider, clinical director of genetics at the Victor Center says that promoting awareness early about Jewish genetic diseases is the first step toward eradicating them. She’s worked with many Hillels to sponsor genetic counseling sessions for Jewish students on campus. Penn Hillel hosted the Victor Center for a cross-campus genetic screening for Jewish students from University of Pennsylvaniaas well as nearby Temple University and Drexel University. Awareness campaigns by several Jewish organizations have also been launched at schools in New York, Arizona, California and Massachusetts. And Yeshiva Universityoffers screening for its students through Dor Yeshorim, an anonymous testing program developed by an Orthodox rabbi in the 1980s.

While instances of Jewish genetic diseases have declined significantly since the Jewish community first embraced screening in the 1970s, there still remains a great lack of awareness within the Jewish community according to Michelle Gilats, genetic counselor for Children’s Memorial and the Chicago Center for Jewish Genetic Disorders.

“We want young people to know that this opportunity [for early screening] exists,” explains Gilats.

In Illinois, the Chicago Center offers four screenings per year, which include a dinner presentation, for just $90. Gilats explains that cost is far below the thousands of dollars some laboratories charge for genetic testing, which many insurance companies will not cover unless an individual is pregnant or thinking of becoming pregnant. The screenings also help to educate the community about how Jewish genetic disorders are inherited and why they exist.

“Judaism is not just a religion, but an ethnic background,” says Gilats. “All ethnic groups have higher rates of different illnesses.”

Because Ashkenazi Jews were an isolated population for nearly 1,000 years, tending to marry among each other with little migration in or out, genes mutated at a higher rate. The result is higher concentrations of certain diseases and disorders within Ashkenazi ancestry.

Robin Fiddle Posnack and her family have been struggling with one Jewish genetic disease for more than two years. Posnack’s son, Jack, was the 601st child to be diagnosed with the Jewish genetic disease Familial Dysautonomia (FD), also known as Riley-Day disease, in February 2006. Posnack, already a mother to a healthy son from a previous marriage, told a Westchester County, New York, newspaper that her doctor didn’t screen for FD when she became pregnant again by her second husband in 2005. A blood test for FD had been developed four years earlier. As it turns out, both Posnack and her identical twin sister Mandy are carriers. Neither one had any idea until Jack started showing symptoms at birth. Posnack noticed that her son did not shed tears, not even during his bris (ritual circumcision). A barrage of tests over the next eight weeks revealed the devastating news.

Avi Buchbinder and Leah Metz.

Children with FD are lacking a vital protein that affects the sensory and nervous systems. Without that protein, basic functions such as swallowing and breathing are a struggle. FD patients, like Jack, cannot regulate their own body temperature and blood pressure, something a healthy person does automatically. Jack also feels no pain, which makes him vulnerable to a host of other health issues. The good news is that new research has found babies diagnosed in 2006 (as Jack was) have a 50% chance of living to age 40 (the average lifespan for an FD patient is 15 years).

Leah Metz, 23, and Avi Buchbinder, 24, want to avoid the pain Jack’s family has endured. The couple will be married this summer and underwent genetic counseling in December at the urging of a friend through the Chicago Center.

Because Metz, a agraduate of UC Irvine and Buchbinder, a Northwestern University graduate student, are of Ashkenazi descent (though Metz’s mother converted to Judaism) there was some concern about the health of their future children. To their relief, bloodwork on Buchbinder determined he is not a carrier for any genetic diseases and so even if Metz is, there is no risk of producing an affected child together.

“We wanted to be prepared so that we don’t have to worry when we’re ready to have children,” says Metz.

• Read about the ethics of genetic screening in Learn Something Jewish.
• For more news like this and up-to-date briefs about Jewish campus life,subscribe to our free eNewsletter Hillel Campus Report.

Tuesday, March 8, 2011

“About Our Children” magazine article

Randy Yudenfriend Glaser, JGDC Chair, is featured and interviewed in this article “Jewish Genetic Testing: A Necessary Screening” from the March 2011 edition of “About Our Children”.

Please go to page 8, after clicking the below link to the magazine.

http://jstandard.com/supplement/item/17347