Connor Scheidts was born in Philadelphia on May 18. When he was a five-day- old embryo, doctors plucked off a few cells and sent them to a lab in Oxford, England. Using a brand-new process called next-generation sequencing (NGS), they read Connor’s whole genome to make sure he had the right number of chromosomes. He was the first baby ever tested this way. Connor has two embryos siblings in frozen storage, and the other ten embryos that were created . . . well, they didn’t pass the genetic test.
Welcome to “the bleak new world of prenatal genetics.” A recent Wall Street Journal op/ed discusses another kind of test, one that uses the mother’s blood sample to analyze fetal DNA that is circulating in her blood. The authors warn that “these tests could dramatically reshape our understanding of what it means to be healthy and normal.”[1]
Robert Alison points out that this “moral minefield” is one that parents are quite happy to enter.[2] One study shows that three out of four expecting parents would screen for “mental retardation.” More than half are willing to screen for deafness, blindness, heart disease and cancer.
These new genetic tests are creating demand, where none existed before. Some predict that prenatal genetic tests could be used by millions of women in the next few years.
Pregnant woman may be pressured to have prenatal testing, even if they don’t want it. I have a friend whose wife was taken into a separate room and asked, “Is your husband forcing you not to be tested?” If her baby tests positive for a genetic disease, the expectation is that the mother will abort her pregnancy.
Whether it targets embryos in the IVF lab or in the womb, genetic testing can reverse all our expectations about pregnancy. Rather than eager anticipation, mothers may delay bonding until the test results are back. And when they do get the results, they may not have access to a genetic counselor to explain what it means. Does a disease that may not show up until late in life mean the baby isn’t healthy? Does a risk of heart disease mean she isn’t normal? A test for every genetic diseases would disqualify all of us!
So, what do you do if you, a friend, or a patient receives bad news about a genetic test? Where are the support structures for families who don’t want to abort, but want to be the best parents they can for their child?
There is help. Four organizations are co-sponsoring a free one-day conference on “Managing an Unexpected Prenatal Diagnosis,” this Thursday, July 18, in Deerfield IL. Experts will present factual information, practical help, and current therapies. You can register at cbhd.org. The event will also be streamed live, and healthcare professionals can get 6.5 credits. And, did I mention that it’s free?
Let’s create better stories for families and their children who don’t get an “A” on the genetic test.
[1] Marcy Darnovsky and Alexandra Minna Stern, “The Bleak New World of Prenatal Genetics.” June 12, 2013. The Wall Street Journal. http://online.wsj.com/article/SB10001424127887323844804578533334085530690.html.
[2] Robert Alison, “Genetic screening moral minefield.” June 24, 2013. Winnipeg Free Press. http://www.winnipegfreepress.com/opinion/analysis/genetic-screening-moral-minefield-212718311.html.