genome sequencing

This past year I made the switch from working as a hospital-based labor and delivery nurse to working for a busy nurse-midwife practice offering nursing support in their clinic.  During this transition, I’ve learned a lot and have been particularly interested in the array of prenatal genetic testing available to expecting mothers today.  Even as a nurse, the options are a bit overwhelming.

For example, the Materniti21 test is a genetic test offered to mothers as early as 10 weeks gestation and can predict with nearly 100% accuracy the risk for carrying a baby with Down Syndrome as well as trisomy 18 and 13.  In fact, this test also detects Y chromosomal material which means that it can reveal the gender of the fetus–again, at just 10 weeks gestation!  This early test offers parents the time to prepare for a child with a genetic condition and is also well within the time frame for parents to choose to terminate a pregnancy based on the results.

I believe that we are just at the tip of what is possible for genetic testing during pregnancy and as technology advances, the moral lines are going to get really blurry.  NPR ran an interesting story this week on the issue.  By state law, newborns receive a limited genetic screening test for a few relatively common but dangerous disorders.  Recent advancements have made it both possible and relatively inexpensive to run whole genome sequencing on infants suspected to have a genetic condition.  Although this allows for earlier, more specific treatment in infants with genetic conditions, it also opens the door to knowledge of predisposition to conditions such as diabetes, obesity, heart attack, even cancer and Alzheimer’s disease.  A true blueprint to a persons health for the lifespan, now available from the day of birth (an soon earlier).  This is an amazing feat of science which has me wondering: Is there a point at which we know too much or too soon?




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