Wednesday, September 15, 1999
Sickle cell testing stirs ethical debate
BY SUE MacDONALD
The Cincinnati Enquirer
Now that genetics researchers are learning how to crack the body's DNA code, just how far are they — and the rest of society — willing to pry it open and tinker with it?
That's one of the many questions raised by this year's news of a new genetic test, combined with test-tube fertilization, that will allow doctors and potential parents to choose only healthy embryos that do not have the genetic blood disorder known as sickle cell disease.
In essence, it allows researchers to screen out the genetically diseased embryos and select only those with no sign of disease for implantation and possible pregnancy.
“Personally, I think it's exciting and has potentially very important practical aspects,” says Dr. Clint Joiner, director of the Cincinnati Comprehensive Sickle Cell Center at Children's Hospital Medical Center (CHMC). “But I think it does raise some ethical questions about eugenics — selecting the genetic type of an individual.”
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ABOUT SICKLE CELL
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September is National Sickle Cell Awareness Month, and several local agencies are holding programs and events. Among them: • Cincinnati Comprehensive Sickle Cell Center, at Children's Hospital Medical Center, provides treatment, counseling and comprehensive care for children and families. 636-4541. It sponsors a panel discussion on new treatments and a sickle cell memorial service at 6:30 p.m. Sundayat Carmel Presbyterian Church, 3549 Reading Road, Avondale. In addition, a Festival of Hopes and Hearts kickoff event for a sickle cell research project will be 2-4 p.m. Sept. 25 at Forest Fair Mall center court. • Sickle Cell Parent & Family Network, based in Bond Hill, is an all-volunteer organization that provides information and support to families and children. 641-5683. • Sickle Cell Awareness Group (SCAG) of Greater Cincinnati Inc., based in North Avondale, is a United Way agency that provides awareness, advocacy and education about sickle cell disease. 281-4450. It will hold a Sickle Cell Poster Child Contest during dinner hours Saturday and Sept. 25 at Fuddrucker's, Rookwood Pavilion, Norwood. During September, the Norwood Fuddrucker's will donate 20 percent of its receipts to the non-profit agency from customers who present a SCAG promotional flier.
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How it works
The latest test is called pre-implantation genetic diagnosis and it currently is available only through researchers at Cornell University in Ithaca, N.Y., and Wayne State University in Detroit. Although some Cincinnati couples have asked Dr. Joiner about it, none of the 220 families among CHMC's active patients have pursued it.
Sickle cell is a blood disorder that causes red blood cells to change shape, clogging up arteries and causing a variety of related health problems: pain, anemia, organ damage and stroke. Symptoms vary from mild to severe, and it can be fatal in some people.
Most couples who want children and know they are carriers of genetic diseases like sickle cell usually follow the same course: once pregnant, they wait several months into the pregnancy to undergo existing genetic tests — called amniocentesis or chorionic villus sampling — that examine the baby's DNA for signs of the disease. If tests are positive, families have the option of delivering the baby armed with knowledge about its health, or terminating the pregnancy.
Given the severity and devastation caused by some genetic diseases, that is a scenario some families are willing to face and a decision they're willing to make. About 20-25 sickle cell couples each year go through such tests at CHMC, most because they want to know if the child to be born has sickle cell or not.
But the new technique moves the decision much earlier into the process. Instead of getting pregnant naturally, couples opt for in vitro fertilization, or mixing the man's sperm and woman's eggs in a laboratory dish. When fertilized embryos grow to 4-8 cells, they are tested for sickle cell disease. Only embryos that show no sign of sickle cell are chosen and implanted into the woman.
“You basically are selecting out the embryos at an unrecognizable stage of development,” Dr. Joiner explains. “In this situation, it's about whether or not to start a pregnancy.”
The cost of pre-implantation diagnosis, of course, takes away its widespread impact. At $10,000-$14,000 a try, only wealthy families are likely to pursue it. But the fact that it can be done raises more questions and what-ifs, Dr. Joiner says.
“What this is called in the business is "proof of principle,' ” he says. “It doesn't mean it's practical, it doesn't mean it works for everybody, and it doesn't mean it's cost-effective. It just means you can do it.”
The implications
It also means other genetic selections and tinkerings might be possible too, he says.
“It does open the door to selecting for the absence of certain diseases, to eliminate the possibility that certain children will have certain diseases,” he says, noting that this process includes a genetic marker for the male Y chromosome. “Does it open up the possibility that you could choose all female or all male zygotes? Absolutely. Tomorrow.
“I draw a distinction between trying to select for the absence of disease — which is going to effect the person who is going to be born — and selecting for gender or cosmetics or looks,” he says. “I think the selection for gender is a very slippery slope. I think we as a society have to make some statement about that, because it's now possible to do it.”
The day-to-day reality, of course, is far different, says Nona Calhoun-Mumia, counselor at the CHMC Sickle Cell Center. Many families who seek out counseling or existing genetic tests already have experience with sickle cell, she says.
“Most of the families already have one baby with sickle cell and are familiar with it,” she says. “They have a 3 out of 4 chance of having an unaffected baby, and they want to find that out.
“Most of our families take it in stride,” she says. “Sometimes it's a lot. Sickle cell can be a real burden, and some of our families have two or three children with sickle cell.”
In a purely theoretical world, availability of a technique like pre-implantation diagnosis for all potential sickle cell parents would help reduce the financial burden and personal suffering caused by such a disease, Dr. Joiner says.
But its ethical impacts have far-reaching implications that families, scientists, doctors and ethicists must confront, he says.
In the meantime, scientists will continue to study the genetics of sickle cell disease.
“This could be a step toward a universal cure,” he says, “and we want to encourage research so we can find a cure.”
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