Posts Tagged ‘ genetic disorder ’

Why the Jscreen Genetic Test Is Important for Your Baby

Tuesday, November 11th, 2014

Colorful DNA strands geneticsBy Stephanie Wood

For most parents to be, there’s no such thing as “too much information” when it comes to their future children’s health and well-being. Whether you’re just thinking about getting pregnant or already have a baby on the way, you’ve no doubt considered the pros and cons of the prenatal tests available that screen for chromosomal abnormalities such as Down Syndrome.

When I had my three children, I chose to only have screenings and not to undergo anything invasive like CVS or amniocentesis because of the risks involved. But now there’s a new testing option that I would have seriously considered, and you should too: Jscreen is a saliva-based, at-home genetic testing kit that indicates if you are a carrier for over 80 different genetic disorders.

Developed at Emory University’s Department of Human Genetics in Atlanta, the test was originally created for the Jewish population, which is at a higher risk for 40 genetic disorders. Now, however, Jscreen has an expanded panel that screens for over 80 disorders common in the general populations as well, including Cystic Fibrosis, Fragile X syndrome (the most common known cause of autism spectrum disorders), and Sickle Cell Anemia.

Why genetic testing matters

Even if you don’t know of any cases of genetic disorders in your or your partner’s family, you should still take this seriously. According to Emory University genetic counselor and Jscreen program senior director Karen Grinzaid, 80 percent of babies born with a serious genetic disorder have no family history of that disorder. And if you and your partner both turn out to be carriers of a genetic illness, each of your children will have a 25 percent risk for actually having the disorder. “The vast majority of people will have a perfectly clean genetic history,” notes Grinzaid, “so Jscreen is most likely going to provide peace of mind.” But if the results do indicate you are carriers, a genetic counselor will help you understand your options, such as using invitro fertilization (IVF) or an egg or sperm donor. Other carriers will decide to take no action at all, but will be prepared in case their child is born with a genetic disorder.

How Jscreen works

Jscreen is covered by most insurance, which means you will not likely have to pay more than the $99 testing kit fee. All results are reviewed by a Jscreen physician or you may choose to have them sent directly to your own doctor. If you or your partner has tested positive for a genetic disease, follow-up counseling is included via phone, videoconferencing, or a local genetic counselor who is part of the Jscreen network. Once you return your saliva samples, you’ll receive the results in four weeks or less. Other direct-to-consumer tests on the market have been controversial because they don’t provide any guidance about the results, but the medical community has been supportive of Jscreen because of the doctor involvement and follow-up counseling, notes Grinzaid. And your privacy is not at stake—all the results are kept in a secure database that only you can access.

Your First Prenatal Visit and Tests
Your First Prenatal Visit and Tests
Your First Prenatal Visit and Tests

Image: Colorful DNA strand via Shutterstock

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If it were my daughter, I’d fight like hell too

Monday, April 7th, 2014

This morning a colleague forwarded me this video which I dare you to watch without a box of tissues. The first thing I thought was If it were my daughter, I’d do the same thing. I’d do whatever I could to raise this money.

Please, watch:

As her parents describe in the video, 4-year-old Eliza has Sanfilippo Syndrome. It’s a terminal genetic disease. It is degenerative and Eliza’s quality of life will continue to deteriorate as she gets older. She may seem like a normal fun-loving kid today, but she’ll only get worse to the point where she won’t be able to walk, talk, or feed herself and she’ll be in considerable pain. As a parent myself, I can’t think of a worse fate for a child than to lose all that she has gained … and on top of that, to be in pain. And to watch helplessly as a parent. The one hope for this family is a very promising clinical trial this fall that doesn’t have enough funding to continue. And of course if it can’t continue, Eliza can’t get the treatment which could very well save her life. I encourage you to read her story and if you can, also donate to the fund. For so many children with genetic diseases, there is no cure. For Eliza there may actually be one. And if she were my kid, I’d be fighting like hell to make sure she got it. Wouldn’t you?



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