Dr. Rav Dhallan of Ravgen on Prenatal Testing
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.
Tags: ravgen, prenatal testing, genetic testing, prenatal, pregnancy, fetus, genetics, genes, genome, dna, diseases, illness, health, medicine
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POSTED IN: Genetic Testing, Genetics Interviews, Genetics Quotes, Preimplantation Genetic Diagnosis
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10 opinions for Dr. Rav Dhallan of Ravgen on Prenatal Testing
Emma
Mar 7, 2007 at 9:14 pm
Hsien Hsien,
If your style of reporting is accurately reflected in this article, then perhaps others are justified in considering your “genetic blogging illegitimate.” Your characterization of another woman’s experience when faced with the prenatal testing, is not only uninformative, it is most likely unfair.
“…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.”
Could you be oversimplifying what she said? Your opinion of what others might or might not be thinking, is irrelevant. A legitimate journalist would interview the person and get their side of the story.
I found your previous entry about this research very informative. However, if you present “news” with such an obvious agenda, you may find that you are ignored. It appears the EurekAlert! staff just doesn’t take you seriously.
Hsien Hsien Lei, PhD
Mar 7, 2007 at 9:51 pm
Emma: Thank you for your comment. The video of Sarah Emche stating exactly what I wrote is linked above. In addition, her boss, Dr. Rav Dhallan, confirmed her quote and viewpoint. As for an agenda, opinion is what blogs are all about. FYI, blogs are equivalent to opinion pieces or editorials in newspapers or magazines.
Eric Eggertson
Mar 8, 2007 at 3:27 am
Emma: I read the paragraph in question several times, and don’t agree that there’s a journalistic lapse here. Just because Hsien Hsien doesn’t use the journalistic convention of pretending that questions appear out of the ether, doesn’t mean it wasn’t a legitimate question to pose.
She says the statement (by a Ravgen employee) about the value of the tests offered by Ravgen seemed overstated, so she either stated that, or posed a question to that effect to Dr. Dhallan.
I would think that expressing skepticism about a value statement attributed by an employee of a company about their personal reaction to using a for-profit product of that company is a reasonable response for a reporter, or a blogger.
If anything, the fact Hsien reveals the nature of the conversation she had with the Dr. shows a greater deal of transparency than many professional journalists.
A journalist who took the woman’s quote at face value and failed to point out the fact the woman in question was a company employee might have appeared to be more professional in their writing, but looks can be deceiving.
(I’m a blogger for b5media, and like Hsien, but my comment would be pretty similar if I came across this situation on any old blog.)
I completely respect the professionalism of most journalists I’ve had dealings with. I also respect the quality of research and writing of many bloggers. The fact that blogging tends to involve a slightly more casual writing style doesn’t mean the information is automatically tainted.
Hsien Hsien Lei, PhD
Mar 8, 2007 at 11:17 pm
Eric: Thank you for expressing so eloquently what I’m trying to achieve with this post and with the blog as a whole. I really shouldn’t take it for granted that my readers know Genetics and Health is not simply a news service, but much much more. My goal is to be a guide for people in the genome revolution. I suppose not everyone will appreciate my attempt.
Dana
Mar 9, 2007 at 1:46 am
Dear Hsien Hsien,
Comment about this, “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”.
I’d be interested in learning more about the regulatory debate/climate for PGD. My understanding is that the ASRM has offered guidelines for its use in the US, including BRCA screening, but I’d be curious to hear your ideas on the merits of say, the UK (highly regulated) and the US (almost anything goes!) approaches. Ive been wondering lately if it is possible to regulate PGD without infringing on the reproductive rights that have been won under the “right to privacy”?
Hsien Hsien Lei, PhD
Mar 10, 2007 at 8:51 am
Dana: Reproductive rights is a hot button issue in the US but it’s not such a huge deal in many parts of the world. In Asia, abortion doesn’t warrant much than a sad nod and many women will choose that route for a variety of reasons. So as PGD technology becomes more widely available, I suspect that a divide will occur just as it has with stem cell research. Some countries will tightly regulate it and their citizens will flock to those that think it’s just part and parcel of reproductive technology akin to IVF.
And although the UK does examine each mutation to be included in PGD, i think they’ve approved a surprising number of them. The practice here is also to solicit public feedback on these decisions so if public opinion supports PGD, the UK regulatory bodies will most likely go along with it. (Based on my casual observation.)
GetSheila
Mar 10, 2007 at 5:01 pm
Emma: I found your comment “if you present “news” with such an obvious agenda” rather amusing. Do you actually watch/read/listen to the mainstream news? If so, do you truly not see the rampant agendas? Even the ones that seem to present just the basic facts had a flawed human being make the decision to run that story over all the others available.
Hsien Hsien Lei, PhD
Mar 10, 2007 at 5:25 pm
Sheila: Couldn’t have said it better myself! Thanks.
Grand Rounds 3.25 « ScienceRoll
Mar 13, 2007 at 6:01 am
[…] Hsien Hsien Lei at Genetics and Health writes about Dr. Rav Dhallan of Ravgen and shares her thoughts on prenatal testing. […]
Ada Weakman
Nov 20, 2007 at 1:13 am
Hope I am not so late here and I can get an answer coz I am being confused in a problem. Prenatal tests can identify also treatable health problems in the mother that can affect the baby’s health?
ADA Arizona HR consulting
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