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Ashkenazi Jewish Genetic Disease Screening Program

Genetic Counseling and Screening

The Victor Center provides full service genetic counseling and genetic screening for all individuals and couples interested in Jewish genetic disease screening. For more information, or to schedule an appointment for Jewish genetic disease screening at the Victor Center, please contact us.

What is genetic counseling?
What is genetic screening?
Reproductive Options available to "at-risk" couples
What diseases are screened for at The Victor Center?
What is the cost of screening?
Importance of a Quality Laboratory
Upcoming Screenings

 

What is genetic counseling?

Genetic counseling is a communication process that helps individuals, couples or families to understand genetic information such as occurrence, or the risk of occurrence, of a genetic disorder in a family. Genetic counselors help individuals make informed decisions about family planning. All individuals/couples screened at The Victor Center receive genetic counseling as part of the screening process.

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What is genetic screening?

Genetic screening is a process in which, through a simple blood test, a person’s genes are examined for changes, called mutations, in specific genes. A person who is found to carry a mutation in one or more Ashkenazi Jewish genetic disease genes is a healthy individual and is not at risk to develop the disease. Genetic screening is used to determine whether an individual or couple is at increased risk to have a baby with a hereditary disorder by passing on a gene mutation to their offspring.  It is strongly recommended that genetic screening be performed prior to pregnancy to afford the couple the most reproductive options.

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Reproductive Options available to "at-risk" couples

Couples who are both carriers of a mutation in the same disease-causing gene have several reproductive options to help insure the birth of a healthy child:

Prenatal Diagnosis:  As early as 10 weeks of pregnancy, through a procedure called Chorionic Villi Sampling (CVS), or at 16 weeks of pregnancy, through a procedure called amniocentesis, a small sample of the fetus’s DNA can be obtained for analysis for a specific disease(s).   Parents would then learn if the baby is going to be healthy or if it is going to have the disease.

Pre-implantation Genetic Diagnosis (PGD): With the help of a fertility doctor, a pregnancy is conceived via in vitro fertilization.  A few days after the eggs are fertilized, a single cell is removed from each embryo for testing.  Only healthy, unaffected embryos are then implanted in the mother to further develop. 

Gamete donation: Couples may choose to get pregnant using a sperm donor, who closely matches the husband physically, but who does not carry a mutation in the same disease-causing gene as the wife.  Therefore, the resulting pregnancy would not be at risk to be affected with the disease. 

Adoption: For those who don’t wish to embark on their own pregnancy, due to the high risk of having an affected child, adoption is another option.  There are several adoption agencies to choose from, both local and national.  Couples may wish to check with their local Jewish Family and Children Services for guidance and support through the adoption process..

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What diseases are screened for at The Victor Center?

The Victor Center currently screens for a panel of 9 diseases.  These include Bloom syndrome, Canavan disease, Cystic Fibrosis, Familial Dysautonomia, Fanconi Anemia type C, Gaucher disease, Mucolipidosis type IV, Niemann-Pick disease Type A and Tay-Sachs disease.  The analysis is done at the Human Genetics Laboratory at Jacobi Medical Center.

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What is the cost of screening?

The Victor Center has a special reduced rate as a philanthropic organization so the cost for the 9-disease panel is significantly less than the cost of a similar panel through a commercial laboratory.  Students and newlywed couples may be eligible for free or reduced cost screening.  Additionally, screening for Glycogen Storage Disease type 1A and Maple Syrup Urine Disease can be obtained at a reduced rate.  There is also a small fee for the office visit to cover the cost of consultation, blood draw, specimen handling and follow-up.  The office visit fee can be billed to insurance. For specific rates and appointment times, please contact us.

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Importance of a Quality Laboratory

All couples who undergo counseling and screening through The Victor Center can be assured that their blood samples are  analyzed by a CLIA approved laboratory.  CLIA, which stands for Clinical Laboratory Improvement Amendments, assures that the laboratory meets the highest standards of quality and accuracy. The Jacobi lab in New York is subject to the standard of oversight set by the New York Department of Health which requires a more stringent standard than CLIA.

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Upcoming Screenings

The Victor Center Team is available to come to your local synagogue, community organization or college campus to provide education to your members about Jewish genetic diseases and the need for screening. Information on how to organize and implement a screening program can be provided as well. Contact us for more information.

Bryn Mawr/Haverford screening (April 8th from 1-6 pm at Haverford College)
This screening is made possible through the generosity of the Melvin N. and Eunice A. Miller Foundation

Columbia Screening (April 10th, 1-7 PM in the Kraft Center, 115th Street, NYC.)

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