Arthur Caplan, writing at MSNBC.com, reacts to a report by the Associated Press that genetic testing is leading to the birth of fewer and fewer children with Down syndrome and other genetic diseases in the United States. An excerpt:

On a trip to Ireland a few years ago, I was struck by a number of faces among the crowds. They were children with the tell-tale look of Down syndrome.

What struck me was the realization that I hardly ever see these young faces out on the street in the United States.

… Reducing the burden of disease is obviously a good thing. But genetic testing of parents, and, as is now happening with increasing frequency, embryos, raises some difficult ethical challenges as well.

… As some families with a Down syndrome child have noted, fewer kids with Down may mean fewer public programs, fewer resources in schools and for housing and less political clout. If some genetic diseases begin to fade away, will society’s willingness to provide support for the diminishing numbers of those born with such diseases fade as well? And are we headed to a time when parents who choose not to be genetically tested find themselves condemned as morally irresponsible parents?

Caplan is director of the Center for Bioethics at the University of Pennsylvania.

Carrier screening, embryo screening and prenatal testing are credited

Hot-button issues: Abortion, embryo destruction and eugenics

By Marilynn Marchione, AP/USA Today:

An investigation by the Associated Press concludes that some inherited diseases are declining and others have nearly disappeared, a trend that is credited to the increased use of genetic testing either before or after conception. A study in California found a reduction of almost 50 percent in the number of babies born with the most severe form of cystic fibrosis because many parents chose abortion.

Geneticists and other experts say a growing number of people are getting tested for genetic mutations before they try to get pregnant, while increasing numbers are screening embryos and fetuses and continuing only with those that get a clean bill of health.

An excerpt:

Genetic testing pushes hot-button issues: abortion, embryo destruction and worries about eugenics — selective breeding to rid a population of unwanted traits. Yet it is touching a growing number of people.

… “We’re definitely seeing decreased rates of certain genetic disorders as a result of carrier screening,” said Dr. Wendy Chung, clinical genetics chief at Columbia University.

… Eliminating disease is a noble goal but also “should give us pause,” [Dr. Barron Lerner, a Columbia University medical historian] wrote recently in the New England Journal of Medicine.

“If a society is so willing to screen aggressively to find these genes and then to potentially to have to abort the fetuses, what does that say about the value of the lives of those people living with the diseases?” he asked.

Related story: Sequenom unveils first trimester tests to diagnose cystic fibrosis, sex of fetus

From the San Diego Union-Tribune, ABC News, Reuters:

Sequenom, a diagnostics testing and genetic analysis company, has announced it will pay $14 million and an undisclosed amount in stock to settle an investor class-action lawsuit over mishandling of data in the development of a potentially lucrative prenatal test for Down syndrome. The company did not admit wrongdoing.

The lawsuit came after the company’s stock lost more than three-quarters of its value last April. The company said then that its projections of the reliability of its prenatal test were not reliable, and said unnamed employees had not handled test data properly. Five top officers were fired and another resigned.

Investigations by the Securities and Exchange Commission, the FBI, and federal prosecutors are still pending.

BNET columnist Jim Edwards said changes in corporate governance announced as part of the settlement suggest that lawsuits against the company “seem to have introduced adult supervision at a company in dire need of it.”

Sequenom officials had estimated that the worldwide market for a prenatal test for Down syndrome is worth between $3 billion and $5 billion.

Earlier posts here.

Dana Goldstein, an associate editor at the Daily Beast, says improved prenatal testing could well reduce the number of secular, educated families who have children with Down syndrome.

She interviews parents of kids with DS, who say they hope that doesn’t happen. An excerpt:

Rachel Adams [a professor of English and American studies at Columbia University whose son has Down syndrome] describes herself as a pro-choice feminist, a woman who wouldn’t want to deny any other woman the choice of whether to carry a pregnancy to term. But she’s also committed to giving expectant parents a more hopeful view of what it’s like to be a mother of a child with Down syndrome. This spring, she and a friend will be giving talks to genetic counselors about how they can more sensitively deliver the news that a fetus has Down syndrome, without steering couples toward termination.

Adams sees a contradiction in our society’s increasingly friendly bearing toward disabled people and its obsession with developing ever more revealing genetic tests. “Now that I have Henry, I go from such optimism to such extreme worry,” she says. “There are ethicists who ask, ‘At what cost to humanity is the elimination of whole categories of people?’ You’re living with these contradictions—wanting women to have complete reproductive freedom but wishing the choices they had were conveyed to them in a different way.”

From the [UK] Times:

A leading geneticist writing in the journal Nature predicts a dramatic increase in parental demand for genetically screened “designer babies” over the next decade.

David Goldstein of Duke University expects to see many more couples screening embryos for genetic variations that substantially raise the risk of common conditions like diabetes, heart disease, autism, schizophrenia and epilepsy.

Embryo screening, which involves pre-implantation genetic diagnosis, is currently used to identify mutations that lead inevitably to serious disease, like cystic fibrosis. Wider use of the process could encourage fresh controversy over the ethics of designer babies, as it would involve screening out embryos that have an elevated risk of developing disease but are otherwise healthy.

In his Nature article, Goldstein called for a broad public debate about the ramifications of widespread genetic screening. “We should think about an appropriate dividing line,” he told the Times. “Most people are in favor of allowing this when a disease is severe, but are more uncomfortable with marginal disease risks. It’s something we are going to have to think hard about.”

Time Magazine’s end-of-the-year issue names autism research as number 7 in the list of “Top 10 Medical Breakthroughs of 2009.” An excerpt:

… Researchers this year identified one possible genetic clue [to the origins of autism]: Variations on a region of chromosome 5, which appear to play a crucial role in about 15% of cases of autism. Working with the Autism Genetic Resource Exchange — a DNA database of more than 2,000 families affected by autism, and the largest genetic study of the disorder ever attempted — researchers zeroed in on variations in genes that code for proteins involved in forming connections in the brain.

Among other top breakthroughs: An effective AIDS vaccine (number 2) and the discovery of genetic links to Alzheimer’s disease (number 9).

Writing in the [UK] Daily Mail, mother Deborah Dooley responds to a neighbor’s comment that she should have terminated her pregnancy rather than give birth to her daughter, who has cystic fibrosis. Daughter Flo is now 20 and is studying dance. An excerpt:

Flo is bright, beautiful, funny, affectionate, clever and hard-working. Yet she is also deemed to be ‘disabled’. To me, this changes nothing….

Very occasionally, I consider the fact that only a last-minute decision stopped me having a test that could have denied my lovely daughter life.

For a brief, sad and always shocking moment I wonder what life without Flo might have been like. Then I think about the huge joy she’s brought us, and how lucky we are to have her – and I feel doubly blessed.

Dooley’s daughter adds:

I do understand the dilemma that parents can go through — I just wonder if people who are so-called ‘ able-bodied’ really take the time to think about those who aren’t: what it means to be disabled, the variations on what we call disabled, and what these people can bring to society.

… I don’t think that being labelled as not quite right, or disabled — or whatever — before you’re even born should mean that you have no right to life. In my opinion, the world needs so-called, less-than-perfect people, those people can live full and happy lives — I believe I’m living proof of that.

(Photo from the [UK] Daily Mail)