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.
My question
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.
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?
You could feel the air go out of the room.
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: [1] they’re accurate; [2] they’re cost-effective; and [3] 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.
Back in 2012, when Verinata debuted their test for Ds, there was an article that quoted their CEO saying, “The company has hired genetic counselors to help doctors with communicating results to patients, and has people working on economic impact, which it hopes will persuade insurers to cover the cost of the test over time,” I really wanted to see the economic impact reports. I doubt they were simply talking about one test replacing another. Making those types of studies/reports available to the public would open some eyes to what this is really about.
Seems like not much has changed since I wrote about that CEO’s freudian slip, “This is about execution, execution, execution,”
http://theunknowncontributor.blogspot.com.au/2012/02/this-is-about-execution-baby.html
Thanks for sharing the link. You can find some cost-effectiveness studies from the various NIPS labs through a Google search. They have issued press releases which are online about them and link to their studies.
Thank you for that info Mark. I will check them out.
But Mark — staying close to the text of what spun you up on this; even you say, “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..” That’s how I took the question as I first read it — not as you interpreted the questioner’s possible meaning about the cost of raising a child with DS that caused you to “see red.” You know I have to bring in the point that a NIPT IS less expensive than the alternative test and resulting amniocentesis that comes so often from “false” positives of other screening tests. With T18 families we see it all the time — the false positives. The intermediary step usually performed for high-level ultrasound screen before a definitive recommendation for amniocentesis is given catches another whole grouping of false positives that can avoid amnio. But still not all babies 16-20w gestation with T18 show the “physical” markers than can be easily observed even on high-level US. My son was one of those. It happens. And the costs of the amniocentesis IS clearly more expensive and risky than the blood test for NIPT and most pregnant mothers want to avoid them at all costs. We can have this whole discussion about the test’s cost-effectiveness without ever going to this place where you went about the “costs” of a child with Downs to be avoided you think is the hidden core of the analysis. I just don’t understand how you went from 0 to 60 on that one question when the answer was NOT what you feared it might be. Are you saying you don’t believe the answer? You know I’m with you on the importance of all this. Just saying . . .
Hit send before correcting a couple of typos there. Meant “And the costs of the amniocentesis IS clearly more expensive and risky than the blood test for NIPT and most pregnant mothers want to avoid them [AMNIOs} at all costs.”
Thank you Victoria. I went 0-60 because typically when people do say cost-effectiveness they mean lives prevented. The initial answer from the lab rep left that ambiguous. He only clarified that their study was comparing NIPS w/costs of amnios/CVS’s avoided in response to my question. So, editorially, probably could have presented that more chronologically. But, their study is the exception to the rule. At SMFM in New Orleans there were multiple cost-effectiveness studies presented in the traditional way; so too at ISPD, which I reference in the post; and other studies have been published regarding NIPS as cost-effectiveness via lives avoided/aborted. I’ve argued in other posts in favor of NIPS for its nonmaleficent role–for sparing mothers the risk of a miscarriage. So, again, while critical in this post, it is not of NIPS, not even of this testing company particularly. But critical of the notion of cost-effectiveness based on lives terminated to offset the costs of prenatal testing.
–>other studies have been published regarding NIPS as cost-effectiveness via lives avoided/aborted
Please confirm your statement & post a source on a cost-effectiveness study about NIPTs that includes the cost of medical care of a terminated pregnancy compared to one that is carried to term for chromosomal abnormalities. Do these studies have data that includes the wages gained/lost from caring for a special needs child? What is the methodology used?
Here is one study. It does not have wages gained/lost, but it does spell out its methodology. There are others, particularly some presented at the SMFM conference whose abstracts are available on its website.
This study limits the costs to the first five years of life and it only compared the different types of prenatal testing against each other. This is not related to “lives aborted” This is an attempt to shoehorn a study to meet your overreach to how cost effectiveness is discussed within the scientific community.
It also includes the cost of a life with Down syndrome in the methodology, just not explicit in the narrative that that was accounted for, i.e. the lives avoided. Again, search the SMFM abstracts from this year. And, I’m still waiting for a study from you to support your view that women who selectively terminate are well-informed.
I share your abhorrence of that notion of measuring any lives based on “cost-effectiveness” of avoiding their lives or letting them die rather than treat (a common scenario with Trisomy 18 and 13). So I understand now it was a jumping off point for this theme. But some of this language is like ringing the dinner bell for folks who will use your words as the “evidence” and justification for making very extreme statements that make this work more difficult and makes many of our allies cringe. I acknowledge that as a personal expression of your own reactions, you always have that right (especially on your own blog). But I guess I’m asking for a little more attention and care in choosing words (or even topics to publish) that fuel reactions that are not helpful to achieving the goals we share. You’re familiar with Matthew 7:16 “by their fruits you shall know them.” Calling out the fruitcakes serves to deter progress rather than move us forward and repels allies we need in this cause. All that being said, I know you are not responsible for what other people choose to write and express. But as a leader, you do have a responsibility for what you are equipping people to repeat.
The burden is not on me. You have consistently stated the women who terminate do not have current information but you have no study to support that position.
Vanessa – It would be hard to obtain such proof, as I imagine I would be reluctant to enter a study that showed I made a “bad decision”
I believe the most informed decision would push folks towards the decision they would choose could they have full understanding of the implications of their decisions on their lives – as if that person could live out both versions of reality and then rewind and chose the one preferred.
Here is what we do know:
1) Because of the high abortion rate, most parents fall into my camp, they find out they have a child with DS at birth – often after “negative” screening results. You can find data on that here: http://www.down-syndrome.org/editorials/2087/
For these majority of folks with a child with DS, their is no self-selection bias to account for
2) A Vanderbilt study demonstrated a lower divorce rate for parents of children with DS vs. those of only typical children (http://www.mc.vanderbilt.edu:8080/reporter/index.html?ID=6087). This includes the majority of parents who received a post-natal diagnosis. Two hypothesis could be:
a) The child brings them much joy, satisfaction, and perspective on life and thus they are more satisfied in their relationship
b) They are more miserable than typical parents, but stick together due to the financial hardship and guilt associated with such a child.
Because parents of children with Autism divorce at a higher rate, choice b appears bunk.
3) Various studies by Skotko (http://brianskotko.com/publications/) while not immune to biases, help fill in the picture as to why this divorce rate may be lower and satisfaction might be higher. Among the facts are:
a) On parents: 99% reported that they love their son or daughter; 97%were proud of them; 79% felt their outlook on life was more positive because of them
b) On siblings: More than 96% of brothers/sisters that responded to the survey indicated that they had affection toward their sibling with DS; and 94% of older siblings
expressed feelings of pride. Less than 10% felt embarrassed, and less than 5% expressed a desire to trade their sibling in for another brother or sister without DS
c) On people with DS: 99% of people with DS indicated that they were happy with their lives, 97% liked who they are, and 96%liked how theylook. Nearly 99% people with DS expressed love for their families, and 97% liked their brothers and sisters.
If we were to tell a prospective parent that their child would lower their chances of getting a divorce, enrich their lives, be a loved and loving sibling, have great satisfaction with their lives – and this were credibly believed (rather than the subliminal message, or overt message, of most “screening” and testing) would we expect a 90% abortion rate? Or what if we pointed to all of the stories of classmates who embrace people with DS and how they are disproportionately elected to homecoming and prom royalty by peers?
These parents deserve more informed choices. No one is “screening” their kids for red hair (in spite of its medical risks for cancer and hypothyroidism among many other issues).
How can we rectify points 1 & 2 with the high abortion rate were it not for misinformation? I have yet to hear a reasonable hypothesis that meets these facts.
Great article Mark. The only thing that costs humans expenses arises from us breathing – you end that plague and we will never have a financial worry for eternity. This is analogous to the argument that raising a child with DS is harder – it requires more effort. Whenever I am asked about this by a “typical parent” I always tell them after my promotion my job got harder – I consider the effort and reward proportional. Why is “hard” considered “bad”?
A good point, Brad. Most things worth doing in life actually are hard–that’s why you do them, because they’re worth it.
Cost-effectiveness here really has nothing to do with money, it’s all about fear and ignorance. Society would do better to have tests for the cost-effectiveness of war for a start.
As a mother of 3 beautiful boys and one angel baby lost too early to know, I REFUSED all prenatal screenings. It truly didn’t matter the outcome of any test. I am a special education teacher and God has the ultimate plan. NOT our place to try and fix things that aren’t broken!!
I completely understand your argument. But the one side of the prenatal testing debate that is rarely mentioned are the cases like mine. I found out prenatally from one of these blood tests a year ago that my daughter would have Down syndrome. I was devastated by the news. And I will admit that initially I considered terminating. I was scared, mostly for myself and for the life that I thought I was going to have with a child I had imagined. But then I did some research. I talked to parents of children with Down syndrome. I went to a community center for children with Down syndrome, and I realized I couldn’t justify giving into my fears. Once my husband and I made the decision to go on with the pregnancy, I used the rest of the time to do more research on Early Intervention. I had an appointment set up for her before she was even born. We also had an appointment set up with Dr. Brian Skotko at the Mass General Down syndrome clinic in Boston.
I wish that my first reaction and the whole medical community’s first reaction when I got the diagnosis was not one of dread. I think that needs to change. The way we think about people with Ds is what needs to change, not access to prenatal testing. I found it very helpful to prepare myself mentally and emotionally for what was ahead. By the way, we also put off moving once we found out the diagnosis, which was another blessing. We quickly realized that we were already living in probably one of the best cities and best neighborhoods in the country for having a child who needs Early Intervention services.
Anyway, all of this is to say that I don’t think I am a rare exception. I think there are other women and other families out there who will find out early about a diagnosis and who will use the time during pregnancy to prepare for the birth of their baby who will need extra attention and extra help right from birth. Even with all this preparation, my daughter still wasn’t able to get EI services until she was about 3 months old. I can’t imagine how long it would have taken us to get things started if I had found out her diagnosis at birth. Also because we were able to tap into the local Ds community where we live, we had a parent mentor who helped through the entire EI process, which is daunting to say the least.
My only wish when it comes to this whole debate is that we could get the medical community to see that children with Ds are not burdens. It should not be a sad time for families to find out a diagnosis. People should be given information and reassured that they and their family will be fine. They should be directed to resources and educated on what they need to know about parenting a child who may need some extra help. I’m not giving up hope that this may happen one day. What I have learned so far on my short journey as a parent of a child with Ds is that things in our community have already changed so much in just a single generation. So maybe we can change this perception too.
Maggie–thank you for your thoughtful reply. I know that reading me can give the impression that I’m against prenatal testing or against women having prenatal testing. That is not the case. As I began Tuesday’s post detailing how medical guidelines say prenatal testing should be done, prenatal testing is simply information and value-neutral in and of itself and when women make an informed decision about accepting or declining it, that choice should be respected. But, as you give voice to, prenatal testing is administered by humans and overlaid with historical discrimination and ignorance about living a life with Down syndrome, with insufficient funding being the norm for providing services to improve lives with Down syndrome. I do think that there’s an argument to be made from a public policy perspective of where dollars should be invested: in a test that does not allow for treatment or in services that do improve the lives of people with Down syndrome. But, I don’t mean to make it a zero sum game. There are many other expenditures that could be avoided and those savings allocated to both giving access to prenatal testing and providing services for individuals with Down syndrome. Just, as you say and as I say in the post, decisions should not be made on where money is allocated based on a view that lives with Down syndrome are a cost or a burden.
And, I further agree that you are in one of the best places for raising a child with Down syndrome. If Dr. Skotko were to move to my hometown, then I could definitively say, where you live is second only to Louisville for raising our children. 😉
It is FACT that biased information is given prenatally. Look at parent boards post abortion on baby center & ask every parent with DS. We were NOT given accurate info and found it ourselves. We certainly can do that study but it would be seen as biased. Fact but unable to verify due to the horrors & stigma of termination.
Thank you for sharing your experience. One of my first posts asked the question of what information readers received. Here’s that post.
I’m not an experienced bioethicist or philosopher but let’s cut to the chase. Life is not a youth soccer game where everyone gets to play and everyone gets a trophy. Births that are an obvious drain on society should be prevented.
You don’t have to have degrees, but you do need to know what you’re talking about if you’re going to suggest that certain lives are worth more than others. Do you have a relationship with a person with Down syndrome? If not, what are you basing your conclusion that a life with Down syndrome is an “obvious drain on society”?
Thank you so much for continuing to defend the purpose of our kids/adults lives. Today there was an article about cancer research and people with DS possible holding the key to the cure for cancer. And the Alzheimer’s disease studies continue regarding people with DS also proves the greater worth of their lives.
I don’t remember the name of the movie that I saw in the 90’s about the destruction of the Rain Forests also taking the cures to diseases with it…I see the same message medically — that the elimination of people with DS not just changes the social world we live in for the worst–but also robs us of the possibility that their lives hold the cures for the greatest diseases of our era. Ironic indeed.
Health care resources are scarce, so if screening is cost effective than it is justified as far as I’m concerned. But it isn’t a cold practice that is inconsiderate of those who parent children with trisomy 21. Parents are given the choice, they may terminate their pregnancy or not. I completely accept that harbouring an extra x chromosome doesn’t prevent an individual from living a rich a worthwhile life. The only objective is to reduce the prevalence of the syndrome and it’s cost on society, it is not immoral, it is pragmatic. I think it boils down, simply, to the stage of pregnancy. For example i support abortion until the fetus develops a functioning central nervous system.
By your logic, then it would just be pragmatic to screen for females as women are higher users of the scarce health care resources. And, what studies show when a fetus develops a functioning central nervous system and how is that defined?