Screening for rare fatal disease too costly: study

NEW YORK Mon Mar 15, 2010 8:53am EDT

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NEW YORK (Reuters Health) - Screening all pregnant women for a rare but fatal genetic disease is too expensive, researchers say in a new report that adds to a recent controversy about whether genetic tests are worth the cost.

Babies with the severe form of the disease -- known as spinal muscular atrophy or SMA -- become too weak to breathe effectively within months of birth. They usually die as toddlers after a futile battle against lung infections.

While scientists can already screen for SMA, allowing parents to seek an abortion or decide against having children, doctors are split on whether or not to recommend routine screening due to cost concerns.

The new study puts the price squarely on the table: $5 million for each case of SMA avoided by prenatal screening.

"We found it to be too expensive," said Dr. Sarah Little of Massachusetts General Hospital, who worked on the study. She added that the value for money was a tiny fraction of what is generally considered acceptable by health economists.

While a genetic test for SMA costs just under $500, more than 12,500 women would have to be screened to prevent one case of SMA, which affects only about 1 in 10,000 newborns.

The results bolster guidelines from the American College of Obstetricians and Gynecologists, which recommends that only parents with a family history of SMA get screened.

However, another professional association, the American College of Medical Genetics, was not impressed with the study, which was published in the American Journal of Obstetrics and Gynecology.

"They came to the wrong conclusion because they used the wrong tool to do the evaluation," said Michael Watson, executive director of the American College of Medical Genetics, which recommends universal screening for SMA.

The team used the standard method of calculating cost-effectiveness, which naturally favors screening for diseases such as cystic fibrosis in which patients live long lives and require expensive treatment.

When patients die young, in contrast, they don't incur a lot of expenses, and so the dollar value of preventing such diseases is smaller.

"It's just not a practical approach," said Watson, adding that "we could save a ton of money in the US if everybody died."

While Little agreed the analysis was not ideal, she said cost was an important piece of information in policy making.

The SMA Foundation, a patient advocacy group, declined to comment on the new findings.

In an editorial accompanying the report, health economist Scott Grosse, of the Centers for Disease Control and Prevention, said it was still too soon to judge the value of screening for SMA.

In an e-mail to Reuters Health, he said: "The increasing number of tests for rare genetic diseases presents both opportunities and challenges. We do not have a national consensus on the criteria to use in deciding which genetic tests should be routinely offered."

SOURCE: American Journal of Obstetrics and Gynecology, March 2010.

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Comments (3)
vstrong wrote:
The results of a study has apparently “concluded” that pre-screening for Spinal Muscular Atrophy (SMA) is not cost-effective and its “findings” were presented at the annual meeting of the Society for Maternal-Fetal Medicine in Chicago and has been reported on by various newspapers, including the above article. The study, based on its statistical assumptions, estimates 11,000 women would have to be screened to prevent one case of SMA, at a cost of $4.7 million per case averted. That is definitely a staggering financial burden to only save one baby — one human life — from the cruel grasp of a terminal and preventable disease.

This study really irks me, at my core. Statistics are funny little things. They can be extremely useful. They can definitely be extremely helpful. They are no doubt extremely subjective. And, in my opinion, as in cases such as this…they can be extremely dangerous.

As with any study and statistical model, the researchers made many assumptions and I’d challenge almost ALL of those used in this study. A few issues with the study’s assumptions:

Prevalence –> They assume 1 in 10,000. Estimates are widely quoted between 1 in 6,000-10,000. They used the high end. That’s up to a 40% difference.

Carrier rate –> They assume 1 in 50. A Genzyme study published in July 2009, put the carrier rate range between 1 in 25 and 1 in 50. They used the high end. That’s up to a 50% difference.

Carrier screening sensitivity rate –> They assume 90%. Tests are as high as 98%.

Carrier screening cost –> They use $400. The actual cost of performing the test in the lab is $30. That’s a 93% difference.

Lifetime cost of a child with severe disease –> They use $260,000. I don’t even know where to begin on this one. Let’s just say that it’s low, WAY low. And that cost is only increasing as SMA children live longer as a result of better access to information and care options. A more accurate number based on 2 years of living with SMA — $750,000 to $1.5 Million. And that doesn’t include a penny of non-insurance out-of-pocket costs to care for SMA children which can run between $20,000-$50,000 per year.

Maternal quality-adjusted-life-years –> They used 22% for Type I and 8% for fetal loss. The mere suggestion that “quality of life” could be deduced down to a single number or percentage with any semblance of remote accuracy for any study is unfathomable and disgusting. I would suggest they actually spend a day in the shoes of a family battling SMA Type I and see if they still think a percentage can adequately encompass “quality of life” adjustments for the diagnosed, family, friends, and community.

But, rather than go tit-for-tat on every arguable number and percentage, I’d prefer to focus on one:

Carrier screening cost assumption –> $400.

SMA may not be a treatable disease, but it IS preventable. There is a simple blood test, similar to the test routinely performed for cystic fibrosis, that can be given to prospective parents to test for the SMA gene — and it can be done BEFORE pregnancy. It’s extremely simple and very accurate. The problem is the price tag. The retail price for this SMA carrier test is currently between $250-$800. Why so high? Well, that’s a long, complicated saga with roots in patent law and ownership rights of the SMA gene and we’re not going to go down that path this time (click here to read a previous post about that topic). A very interesting tidbit though — the actual cost of performing the SMA carrier test in the lab is approximately $30. Yes, $30! Stay with me here…

If we assume the SMA pre-screening test was $30 — the actual cost of performing the test in the lab — instead of $400, as the study estimates, the “cost per case averted” goes from $4.7 million to $352,500 — pretty darn close to the arguably-much-too-low-based-on-my-own-personal-experience $260,000 lifetime cost of a child with SMA estimate the study used — it would alter the study entirely!!!

See, statistics can be funny things. But the truly tragic and unfortunate part of studies like these is that we, as a society, have deduced human life down to averages, assumptions, and cost-effectiveness. I understand that, at some level, we have to. But, in my opinion this is downright immoral as their results are blindly relied upon in making sweeping policy decisions that have material and drastic impacts on real people’s lives.

Perhaps my statistical-funny-math is a much too simplistic way to look at things, but I’d pose a simple non-statistical question to those involved in studies such as these:

Question –> Rather than being so diligent about deriving complex, overly subjective statistical analyses to prove why we SHOULDN’T be SAVING LIVES, why don’t we spend that energy focusing on why we SHOULD and how we COULD — especially when these diseases CAN be easily prevented?

Mar 15, 2010 6:39pm EDT  --  Report as abuse
IdiotSavant wrote:
I believe DNA screening can be done much faster and cheaper using light comb technology. I do not understand why not one has done this.

Mar 15, 2010 8:08pm EDT  --  Report as abuse
Gilligan wrote:
VSTRONG: Care to illuminate as to how this disease is “prevented?” The so-called “prevention” in this case (we’re talking about screening PREGNANT women) is an elective abortion. While I am NOT against this. Your protestation about weighing a human life against cost is flawed logic.

As to your argument to weighing the value of life against available resources: This is routinely done by medical professionals, patients and families daily. Its called triage. We assign finite resources toward helping the most people. Using limited resources to help a handful of terminally ill children survive versus focusing on more common treatable and curable illnesses.

As to the cost of the test. $30? Where do you get this number. The cost of the test isn’t merely the actual cost of the supplies involved in the test, but includes the cost of specimen collection, processing, tabulating and interpreting results. $400 is probably a conservative estimate.

Prolonging the inevitable isn’t wise, feasible or compassionate. There comes a time in every person’s life that the compassionate path is a pain-free death. For these unfortunate children that happens to be sooner rather than later. We as a society and as individuals should honor their lives, but also make the necessary transference to recognize that finite resources are better spent helping the most people survive. Its the ethical and moral path.

Mar 15, 2010 12:29am EDT  --  Report as abuse
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