Thank you!

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In Joan Rothschild’s The Dream of the Perfect Child, she looks at how prenatal testing has changed the way families experience pregnancy and public perception of disability. About three decades ago, ultrasound, amniocentesis, and other prenatal tests became a routine part of a pregnant woman’s prenatal care. Since then, parents have agonized before, during, and after the tests.

Today, we argue, women have “choice.” They need not give birth to a child with Down syndrome. Women can choose prenatal diagnosis and terminate the pregnancy if the tests are positive. But fear still motivates. Attitudes toward children with Down syndrome or other birth defects have little changed in the intervening decades. Only the ability to act and the timing of our actions have changed.

Ravgen is offering one more means of prenatal testing that is much less invasive to both the pregnant mother and her unborn child since it analyzes fetal DNA in maternal blood; only a blood draw is required. But the impact of making prenatal testing even easier than before means that more of us will be under pressure to find out all we can about our babies and to to make sure our children are as perfect as we can make them. On the other hand, it also means that parents and healthcare providers can be better prepared to handle a child with special needs once he or she is born.

Yesterday, I had the chance to talk to Ravgen Chairman and CEO Dr. Ravinder Dhallan about their technology and his vision for its use. One of the first things I asked about was a feature of Ravgen (video) that aired on WUSA Channel 9 Washington DC. In it, Ravgen staff Sarah Emche talked about the “incredible peace of mind” the test gave her family during each of her two pregnancies. That struck me as an overstatement considering all of the various congenital defects that are possible and for which no prenatal tests exist.

While Dr. Dhallan agrees, he also says that prenatal tests like Ravgen’s are just extra tools to be used in prenatal diagnosis. Genetic testing won’t ever replace technologies like ultrasound that’s capable of diagnosing structural abnormalities in the fetus. However, there is great promise for prenatal tests that can analyze specific genetic loci and mutations. The Ravgen test is currently limited to detecting Down’s syndrome in which there is an extra chromosome 21, but theoretically it could be adapted to identify other types of genetic variations as well.

For instance, if a mother knew that her child carried the p16 mutation that predisposed him to melanoma, she could perhaps be extra careful to prevent sun damage from birth*. Dr. Dhallan’s vision is to identify as many such disorders as possible that can be prevented or treated easily if they’re diagnosed early enough. He believes that it’s possible to make a bigger impact if you can diagnose someone in utero since rare genetic disorders will most likely remain hidden until much later in life when the disease surfaces and it’s too late for preventive measures.

At this point, you might be thinking about preimplantation genetic diagnosis that has been approved for a number of genetic mutations, including the BRCA genes, which increase a person’s risk of breast and ovarian cancers. Those embryos that carry the mutations being screened would be discarded in favor of those that don’t. Similarly, a prenatal test could come to the same conclusion but at a much later stage of the pregnancy. And then there is the question of when to perform such genetic tests - before a child is born or after.

So we’ve gotten to the controversy. As Rebecca Taylor of Mary Meets Dolly often reminds us, parents who choose not to have children with known genetic defects forget that in the future, treatments and cures could become available. If we focus on prenatal testing more than on the disease itself, we may never gain the momentum we need to eradicate the disease instead of the person.

The reality is prenatal tests are already available and commonplace. The hope is that with new technologies like Ravgen’s, we will reduce the risk of undergoing prenatal testing and increase their accuracy. And the better information we have, the better able we are to make good choices about our health and our lives.

*Myriad Genetics offers Melaris, a genetic test for hereditary melanoma that identifies mutations in the p16 gene.

Dr. Dhallan’s vision is to identify as many such disorders as possible that can be prevented or treated easily if they’re diagnosed early enough. He believes that it’s possible to make a bigger impact if you can diagnose someone in utero since rare genetic disorders will most likely remain hidden until much later in life when the disease surfaces and it’s too late for preventive measures.

I think there will eventually be a policy where all major disorders and diseases (both monogenic and complex) will be screened for during pregnancy. The down fall on this is the unexpected mutation that can arise that leads a person to having a disorder or disease when the first test done (during pregnancy) showed no mutation for a certain disorder or disease.