Posts Tagged ‘ genetics ’

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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Babies and Genetics: The Ongoing Ethical Debate

Friday, February 7th, 2014

Earlier this week, the media was again abuzz with the long-debated question of ethics when it comes to genetics and babies. The spark? 30-year-old Amanda Kalinsky—a woman diagnosed with Gerstmann-Straussler-Scheinker disease, a rare genetic neurological disorder that will lead to a slow, painful (and by all predictions) premature death. Though immediately after her diagnosis four years ago she vowed never to have children in order to cut off the head of the GSS snake, The New York Times reported that Amanda and her husband Bradley now have three children thanks to genetic testing and in-vitro fertilization.

The Kalinsky’s doctors created 18 embryos, tested all of them for the GSS gene, and implanted only the 12 without it. My first reaction is that this is an amazing breakthrough. A woman who wanted very badly to be a mother without passing on a terrible fate is now Mommy to three kids. Thanks to the availability of testing, she didn’t have to play Russian roulette and hope that a naturally-conceived child would be born without the gene —or have to debate aborting a fetus who tested positive for GSS during prenatal tests. She also didn’t have to forego motherhood (and her husband didn’t have to forego fatherhood). Not to mention, if doctors were able to do this for GSS—a rare disease—this could mean that we may be able to avoid passing along so many other diseases to future generations.

Should You Have an Amniocentesis?
Should You Have an Amniocentesis?
Should You Have an Amniocentesis?

At the same time, this is not an equal-opportunity solution. The procedure cost the Kalinksys $20,000 for the first round—which they paid out of pocket because many insurers don’t cover this. So are we saying that only wealthy folk get to eliminate their diseases? What about people who can’t afford this? Are they subjected to the choice of taking their chances versus no children, at all?

But questions of who can take advantage of this aside, there is one huge question we need to ask ourselves: Should we be doing this at all? Will we continue to use this technology to prevent disease, or will it evolve into so much more? I am all for giving every child the best shot we can at a healthy, happy life. But is that really what’s going on? As of a recent international survey, 2 percent of over 27,000 uses of preimplantation diagnosis were actually to choose a child’s sex. Clearly, not a life and death matter.

(If you want to try and predict if you’re having a boy or a girl—sans science—check out our Chinese Gender Predictor.)

I have a hard time believing that we will be able to keep the uses of this technology limited to “the right reasons.” And even if we do manage to pass laws and regulations about this technology (to keep it preventing diseases rather than brunettes), something tells me we may be drunk with power—believing that eliminating embryos of one gene means there are no unknown or other harmful genes lurking inside. But I have to say that in my opinion, if we have to put up with some people choosing girls over boys or blue-eyed kids over brown-eyed kids so that others can (to the best of their knowledge) choose healthy kids, then that’s the bullet we bite.

Yet, all this talk of genetic diagnosis reminds me of the other side of the genetics debate: genetic engineering. Last year Intelligence Squared sponsored a debate about whether or not we should prohibit the genetic engineering of babies. The most striking point was that genes do not occur in a vacuum. Genes interact with each other to create traits such as brown hair, fair skin, genius intelligence, or disease. By removing or altering a disease-causing gene, scientists cannot automatically declare victory. Disrupting the natural order could invent a new disease. It could cause the original gene to mutate and become alteration-resistant. Bottom line: We do not yet know the consequences of this.

When it comes down to it, here’s where I fall (for now): Genetic testing, yes. Genetic engineering, no.

What do you think about this hot-button issue? Sound off in the comments below!

Image via Shutterstock

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