Pharmaceutical Profile: Sequenom

I was reading my monthly copy of Pharmaceutical Executive magazine when I came across Joanna Breitstein’s excellent article profiling the latest trend in the pharmaceutical arena: big deals that are safe bets.  In her article, “Place your Bets,” Breitstein characterizes Roche’s bid to acquire Genentech as a reflection of the cautious approach to deal-making that big Pharma is using these days, and indicates that with patent expiration on the heels of many blockbuster drugs, especially Pfizer’s Lipitor, there is a strong demand for small company buyout targets with promising products in their pipeline.

Sequenom is one such company on the list that I found particularly interesting. 

As I approach my mid-thirties, along with many of my friends, I find myself still at the early stages of raising my own familial unit, with future children on my mind.  This is in sharp contrast to the experience of our parents, who most likely at this point were finished with that stage of their lives and had children many years older than ours.  We all have our reasons for starting our families at a time that would be considered “late” by our parents’ standards, but one of the downsides is increased (albeit still small) risk to the baby for Down Syndrome.  Amniocentesis is one of the best accepted methods to screen for this disorder, but it carries with it a risk of miscarriage and can only postiviely identify 70 to 90 percent of the cases prior to birth.  Sequenom, however, has developed a method that could trump amniocentesis at identifying Down Syndrome cases — so far with 100% accuracy in clinical trials — and do so with minimal risk using only a prenatal blood test.

Sequenom’s technology, dubbed SEQureDx(TM), targets fetal DNA circulating in the mother’s blood to examine the genetic status of the fetus.  The first application identified a fetus’ risk for RhD disease, which occurs when the blood of an expectant mother is incompatible with her unborn child.  Jaundice, anemia, brain damage, heart failure and even death can result from the incompatibility, so identifying it early is crucial to taking measures against it.  Showing that it can additionally be applied as a method for testing a fetus for Down Syndrome would be an added incentive for any potential buyers for the company.

I am encouraged by the company’s charter to make “safe, non-invasive prenatal testing available to all women, independent of age and other factors that may contribute to pregnancy complications,” and am hopeful that the knowledge gained in this kind of research could lead to an increased understanding of the kind of defects that could affect the normal development of an unborn fetus.  As parents, knowing in advance how we should be prepared for any difficulties an unborn little one might have is invaluable and gives us the opportunity to prepare for what might be.

The obvious win for any pharmaceutical company that entertains the idea of Sequenom as an acquisition is an increase in the number of parents willing to run the test.  Like many parents, I fear the risks of amniocentesis, despite the information it will give me.  If the risk is mitigated, then wouldn’t more parents do it?  Would it just become part of the standard barrage of tests that expectant mothers are put through?

They say knowledge is power.  Today, we may be having our children later, but we know a lot more about them before they are born than our parents ever did.  Gender, heartbeat, skeletal development, and soon even certain genetic diseases can be safely screened well before the baby is born and steps can be taken to prepare for or even prevent hardship for the child later in life.  But does this take any of the excitement or anticipation out of child birth?  Does knowing any of this information change the way you feel about a child growing inside your wife (or you)?  Or does knowing the information help you prepare to be a better parent?

Your thoughts, as always, are welcome.

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