The leading nonprofit organizationscreening Jewish couples for genetic diseases hasmore than doubled its testing capacity.

JScreen, based at the Emory University School of Medicines human genetics department, increased its testing panel from 100 to more than 200 disease genes that could affect a couples future offspring.

Many of these conditions happen in families where theres no known history, JScreen Executive Director Karen Grinzaid said in a phone interview. All of a sudden, a child is born, and theres a genetic problem. There is testing available to give people a heads-up about these things before they have kids.

One in three people of Jewish background unknowingly is a carrier for at least one Jewish genetic disease.

Conditions common in the Jewish population, such as Tay-Sachs, Gaucher disease, thalassemia, mucolipidosis Type IV, spinal muscular atrophy and Fragile X syndrome, are part of the nationwide screening process, andmany others are now included.

Half (the diseases) are common in the Jewish population; the other half are just common in the general population, Grinzaid said. Having this broader screening panel is important because, even though I may think Im 100 percent Ashkenazi, I dont absolutely know my background. Its possible there is other ancestry we dont know about. In addition to that, people have mixed backgrounds or may be in interfaith relationships.

She added, What were looking for are diseases where both parents seem healthy, but they dont know theyre carriers, so if they pass that gene onto a child, that child will have that condition.

Joining Grinzaid in the interview was Gail Heyman, a member of JScreens advisory board and a carrier of the Fragile X syndromepre-mutation who unknowingly passed on the condition to two of her children. Its a gene that has impacted our family greatly. Usually when you find a genetic disorder, its alarming.You dont know what to do, but after counseling, you can figure out what to do next.

That counseling sets the JScreenprocess apart, Grinzaid said. There are companies you get a kit from that just mail you results, and you have to figure out on your own what to do and what that all means for you and your family. People need to understand the results and what their options are. We wanted to make that support an integral part of our program.

If families have information, they have choices, Grinzaid said. You can have a conversation with your spouse about what you would or would not do if you were to have an affected child. Our goal is to get to people preconception, as much as possible, so they can make decisions on different reproductive options, such as in vitro fertilization or adoption, and maximize their chances of having a healthy family.

The screening for these diseases is done through DNA found in saliva samples using genetic sequencing technology, and JScreen operates under the direction of aphysician who specializes in genetics.

Another thing, Grinzaidsaid. People dont do it because they dont think its affordable, or maybe their insurance doesnt cover it, or theres a huge deductible. A lot of what we do is from philanthropic dollars, so even if their insurance covers nothing, its the same for everybody. That really helps improve access and encourage people to take advantage of the test, and the expanded screening really opens up the door for more people to participate.

The cost of the test, including counseling, is $149.

Originally posted here:

JScreen Doubles List of Tested Genetic Diseases - Atlanta Jewish Times