I shouldn’t even have to say this.
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.
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.
Sitting there as undoubtedly the only attendee who had a child with Down syndrome, I felt my chest tighten.
I knew I was going to have to say something.
I didn’t want emotion to override my response. So, while the test company representative answered, I formed my question, and then raised my hand.
Here’s what I said:
Good evening. I’m Mark Leach. I want to first thank [the company] for hosting us for this excellent meal.You could feel the air go out of the room.
I’m a lawyer, a bioethicist, but, first and foremost, I’m a parent. My daughter Juliet has Down syndrome.
I don’t mean to bring the mood of the room down.
But, when she asks about “cost-effectiveness,” I just want to make sure:
Are we talking about how many lives like my daughter are not going to be born?
To the company’s credit, their representative answered by saying the study they had done to show cost-effectiveness was based on how many invasive tests, and their costs, were avoided by women not having them after having their NIPS test done.
And, several attendees came over to my table afterward and shared that they were wondering the same thing and were glad I asked the question.
But, all I kept thinking, and what I thought for the rest of the night, and since is:
I shouldn’t even have to say that.I shouldn’t have to defend my daughter being alive and not being a “cost.”
The stupid argument
To those who may read this and say, “I understand you’re a parent so this is an emotional issue, but we have to be reasonable about the use of scarce healthcare dollars and how they are invested. We must make these decisions of what burdens we can avoid, if we can by screening for them.”
My response is:
Screw you.Look, screening tests are justified when they have certain elements:  they’re accurate;  they’re cost-effective; and  they provide for a treatment. That’s not my view, it’s the criteria established by the
World Health Organization.
I sat in a presentation at the International Society for Prenatal Diagnosis in 2012 where two speakers were debating widespread prenatal screening for Fragile X syndrome. The one in favor cited this criteria, admitted it allowed for no treatment, but still argued in favor of expanding testing. He was the one that cited the criteria; admitted Fragile X (and any other) prenatal genetic screening doesn’t meet it because it doesn’t allow for any treatment; and still argued in favor of having more pregnant women screened, primarily because he said it would be “cost-effective.”
It’s an absurd argument, and so I will match it with my own.
The cost-effectiveness argument is based on math: will a test broadly used cost less than the condition that it screens for? With that dumb analysis (dumb in the sense of not applying any value judgments, just looking at numbers), then cost-effectiveness would justify universal screening for other conditions that cost the health system more. Like the genetic condition of double-X. Female.
Women are higher users of the health care system. At the same time, the cost for finding out whether a pregnancy is carrying a baby girl is much lower than that for Down syndrome. Plus, as opposed to Down syndrome, where almost every pregnancy is not carrying a child with Down syndrome, for female, that’s about half of all pregnancies.
Applying the dumb cost-effectiveness analysis, then, you could justify screening the population for women to reduce their number. The savings would be apparent: since women cost more, and the prenatal test not only costs less than for Down syndrome, but would apply to about 50% of all pregnancies–think of the savings!
But, we don’t make this argument at polite, educated dinners. Because it’s stupid. Yes, women cost the healthcare system more than men. But so what? Women are part of the natural order.
And, so is Down syndrome.
The alternative investment
Imagine if the millions, upon millions, upon millions that the federal government has granted for developing prenatal testing for Down syndrome; that states had paid in Medicaid dollars for tests; and, specifically that California and Iowa have spent in their respective statewide prenatal screening programs for Down syndrome–just imagine if all of that money had instead been invested in improving lives for individuals with Down syndrome? I can guarantee the claimed cost of Down syndrome would rapidly be reduced far below $350,000–it would likely approach the additional cost of “female” to the health care system.
We’re already seeing it now. Now that individuals with Down syndrome are finally living in a society that expects them to go home and not to an institution when born; be educated in public schools like every other kid; have planned transitions into adulthood for community living and work opportunities. These developments are resulting in healthier individuals who are not taxing the system as much as when they were locked up in institutions.
And think how much better for all the world (to borrow a phrase) it would have been if the millions that had been spent to reduce their number had instead been spent to support their parents and support them.
Like I said, I shouldn’t even have to say this. I shouldn’t have to defend my daughter being alive.
People with Down syndrome are people. They are not burdens. They are not costs. Stop talking about them like they are. Start investing in them.