People with Down syndrome are not costs to be avoided through prenatal testing

by Mark Leach from Down Syndrome Prenatal Testing:

I shouldn’t even have to say this.

The dinner
At last week’s American College of Medical Genetics & Genomics (ACMG) annual meeting, I was invited to attend a dinner hosted by one of the Non-Invasive Prenatal Screening (NIPS) laboratories. I was surprised to be on the guest list, and looked forward to enjoying a steak.
The room was packed–a far larger gathering than I was expecting. The other attendees were typical of those attending the ACMG meeting: medical geneticists, genetic counselors, and industry representatives.
The host company presented on their latest research. On how more conditions beyond aneuploidies may be added to the panel of conditions screened for and how a recent study suggested applying NIPS beyond high risk moms. It was what I expected, as far as the presentation went. Unfortunately, so was one of the last questions asked during Q&A.

The question
An attendee raised her hand and asked whether, given the higher cost of NIPS as compared to traditional screening, had the company shown that its test was “cost-effective.”
I saw red.
If you’re not familiar with that phrase, typically “cost-effective,” when associated with prenatal testing, means this:

• Are the costs of offering NIPS to the 99+% of pregnant women not carrying a child with Down syndrome off-set by the number of those Down syndrome pregnancies that are identified … and aborted.

This is how the math is done: NIPS testing costs over $1,000 per test for all but one of the laboratories. Various studies have estimated that a life with Down syndrome costs a certain amount more to the healthcare system–the most recent number I saw was $350,000. So, a prenatal screen is “cost-effective” if 348 mothers not carrying a child with Down syndrome accept the test, costing $348,000, but the one pregnancy actually with a child with Down syndrome is identified and “avoided,” “prevented,” aborted.
Sitting there as undoubtedly the only attendee who had a child with Down syndrome, I felt my chest tighten.

Sequenom's MaterniT21 prenatal test

from Bloomberg:

Sequenom Inc. (SQNM) said its prenatal test for Down syndrome will be available in 20 U.S. cities today, two years after an earlier effort was delayed because employees mishandled research data.

The blood test is accurate in detecting Trisomy 21, the genetic chromosomal abnormality that most commonly causes Down syndrome, 99.1 percent of the time as early as 10 weeks into a pregnancy, the San Diego-based company said in a statement. The test, and others that will be able to identify genetic abnormalities early in pregnancies, will alter the debate over abortion, said Art Caplan, director of the center for bioethics at the University of Pennsylvania.

“For many people this test makes it morally, emotionally and psychologically easier to have an abortion,” Caplan said in an interview.

Caplan said future prenatal tests may be able to indicate if the fetus had biomarkers for Alzheimer’s disease, or breast cancer, or other diseases. Those tests will raise questions about what issues will trigger potential parents to choose an abortion. A survey published last month in the American Journal of Medical Genetics showed that only 4 percent of parents with Down Syndrome children regretted having them.

“Ethically, we are now starting to see the shift in the issue of what counts as a medical disorder, what’s significant enough to test for, what’s a genetic disability or just a difference,” he said. “Many in the Down syndrome community would say it’s just a difference.”

from the New York Times:

“The number of American women who will have to grapple with this information prenatally will substantially increase,” said Dr. Brian G. Skotko of the Down syndrome program at Children’s Hospital Boston. His sister has Down syndrome, he said, and he pointed out that these tests could encourage more people to end their pregnancies, causing a decline in the numbers of people with the condition and leading to diminished support for them.

Sequenom’s test, called MaterniT21, would be ordered by doctors, not directly by consumers. All samples will be sent to Sequenom’s laboratory for analysis. The test is expected to cost about $1,900, about as much as amniocentesis.

The company said that privately insured women would have to pay $235 out of pocket, with the company assuming the risk of getting insurers to pay the rest. It is not clear how willing insurers will be to cover this test.