Yesterday I was contacted by a researcher at Duke University who wanted to interview me about a new blood test that can detect micro-deletions like my son’s genetic condition—Langer-Giedion Syndrome—as early as 10 weeks into a pregnancy.
I’ve written about the issues I have with prenatal testing: that it’s increasingly viewed as a standard of medical care and social responsibility, rather than a woman’s choice, and that when a prenatal diagnosis is made, a clinical description isn't balanced with information from families raising children with the condition or affected adults.
In addition, information is often presented in a value-laden way. For example, I’ve been on the receiving end of obstetricians and genetics counsellors who talk about “perfect” babies and “abnormal” babies, and about a “burden you’ll live with for the rest of your life” during what is supposed to be neutral counselling.
It's also quite possible that the clinician a parent speaks with during genetics counselling has zero life experience with disability—kind of like talking to a car salesman about a car he's never driven. Instead, it’s more likely that the clinician views genetic disability as a preventable, costly medical error.
The Duke researcher sent me a link to Sequenom Laboratories’ press release.
It reports that the company will be able to identify three new micro-deletions—including Langer-Giedion Syndrome—as part of its Materni21 PLUS test. Although this blood test already detects a handful of micro-deletions, it’s named for its ability to detect Trisomy 21, or Down syndrome.
There’s a quote from the head of maternal-fetal medicine at Cleveland Clinic saying the test “has helped change how we treat our prenatal patients.” However, there isn’t any explanation as to what this change is. The doctor does say he can now provide patients with results as early as 10 weeks into the pregnancy.
Does counselling for a genetic disability at 10 weeks into a pregnancy differ in any way from that at 16 weeks? If so, what are those differences?
As the testing for micro-deletions is expanded, how is the clinician’s real-life understanding of these conditions enlarged to ensure prospective parents get balanced and rich information?
What are clinicians doing to reach out to families affected by micro-deletions so they can provide more than a clinical description and perhaps even a referral to a support group?
Like other deletions, Langer-Giedion Syndrome affects people differently. The MaterniT21 PLUS will not give prospective parents any insight into whether their child will be mildly, or more severely, affected. My son will not go to university, but some with the disorder do. Prospective parents will have a diagnosis, but no clear sense of impact. Quite the emotional quandary, I would imagine, and not the precise, scientific "genetic analysis solution" that the company refers to.
To me, the technical side of prenatal testing is the easy part. The information and counselling that comes after a diagnosis is the messy part, the part that needs critical scientific attention and study and evaluation.
Sequenom says that it’s “committed to improving healthcare” but it doesn’t mention anything about how the results of its test are used, or how test results translate into counselling that prospective parents find useful, supportive and neutral.
Oddly, Sequenom’s news release doesn’t mention a thing about termination, yet I imagine most positive Materni21 test results lead to termination. Why is this not openly discussed in its promotional materials?
Again, I think it's easier to talk about “laboratory-developed” tests and “revolutionary genomic and genetic analysis solutions” rather than the real-life decisions of a woman who may know little about disability or be ambivalent about using termination as a prevention measure.
Note that on July 29 Sequenom reported revenues of $39.8 million for the second quarter of 2014, an increase of 62 per cent over the same period last year.
There’s lots of money to be made in increasing the number of women who take the Materni21 PLUS.