How Much is Your Baby’s Life Worth? Experts Use Economics to Decide on Genetic Screening

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.   The research is reported in the new issue of AMJOG and reported in summary here.

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 analysis comes to $5 million for each case of SMA avoided by prenatal screening- and decides its too expensive.

“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.”  I have often pointed this out to those who criticize fertility care as being too expensive for the health care system.  Cancer care and  intensive care units are very expensive.  If we only use cost effectiveness analysis then we would only offer preventive health, nutrition, smoking cessation, and vaccinations.  Much more cost effective then treating elderly sick people!

As a fertility specialist I deal with the SMA genetic screening test on a daily basis.  I advise all infertile couples of the existence of the test and the risks of being a carrier and having an affected child.  As is the case with cystic fibrosis and fragile X most couples do want to be screened once they know the test exists.  For those who test positive in both male and female some have chosen to have PGD where I test the embryo during IVF to see if it is affected and only replace those that are not.  I have had couples use this test to successfully have a healthy child unaffected by SMA.  Just recently I saw couples who came specifically for PGD having lost more than one child who died from SMA– and they were unaware that testing existed before.

This reminds of when a west coast state (think it was washington) used a cost effectiveness analysis to decide which medical treatments their public health insurance would cover.  Treatments were ranked and they went down the list until the budget ran out.  This system was very poorly received.

I hate to rock the boat but as advances in genetic diagnosis are exploding this problem is going to go through the roof.  I can now test for far more genetic diseases than tests existed for 10 years ago.  Using DNA chip technology I can now screen for over 200 diseases.  Is this cost effective?  Would you want to have it done?  When I thought about having children I wanted to be tested for everything possible!  Just last week I had a Yale student on a research elective with me.  He could not believe we don’t universally screen everyone for everything possible–yet many patients don’t want any test not 100% needed.  Others striving so hard to have a baby want to be tested for everything possible.  As the number of diseases we can test for heads north of 1000 in the next years our ability to test has outpaced policy decisions and protocols of what should be done for the couple who never had a child.   The bigger issue as we enter the future of Obama health care is where does genetic screening for low risk couples for diabling or fatal diseases (the ultimate preventative care) fit into the economic analysis.  How much is too much?  I guess it depends on who you ask and who’se paying…

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