Wednesday, August 20, 2014

What is 'progress' in prenatal testing?

By Louise Kinross

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.

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.


Given that abortion is legal for ANY reason or no reason at all, any information from the gender of the child to the statistical info as to whether the child might have medical or other issues, to anything else under the son, can be what bumps the decision to terminate a pregnancy into a higher possibilty category. There was an excellent article I read that I think should be part of any such discussion; something put right on the table. Also personal opinion and biases should be kept out of this whole scene. Also, there is no reason why the national and parent organizations for any of the conditions showing up on the tests should not be given as referrals for more info from people who truly know; in fact it should be required.

However, to ignore the fact that many people who undergo this testing do so with the purpose of ending any pregnancy that shows signs of health complication or needs that will have to be addressed beyond what the mother, parents want to undertake, is not being realistic. A good friend of mine is a fierce advocate for her Down Syndrome son, always has been, but did have an abortion when signs pointed to a fetus with what she felt was a high chance of issues,and she has privately told her daughters and close friends that abortion is a something to consider heavily when given news of a fetus likely not to be able to be an independent adult. So the reason that this info is sought is because there are a lot of people out there who do not want to parent such a child and would choose abortion over doing so.

Hi Cath -- thanks for your message. I will check out the link!

This is a link to a study showing attitudes of professionals involved in counselling women whose fetus has an anomaly. They answered an anonymous survey about which specific conditions they would terminate for and the study concludes by saying more analysis is needed on the impact of health professional's personal beliefs on parent decisions.

I simply question the idea that advances in testing (being able to identify more conditions, earlier) lead to better counselling or informed choices on the part of parents. And I think the massive dollar amounts going into the technical side of testing should be redirected to studying how we use the information, how parents rate the counselling they get and feel about their decisions and how it impacts us as a society.

Thanks for posting!

Yes, yes, yes to your valuable questions, Louise. To what end is the testing?

And I think examining who is disclosing the prenatal diagnosis, and what type of counselling (if any) is offered is crucial. Genetic counsellors do a good job of value-neutral counselling - that's what they are taught to do. But how many times is it a physician, untrained in disclosing diagnosis, who shares the news based on his/her own value systems?

And I feel really strongly that families with a prenatal diagnosis should be offered a connection to other families for peer support - to talk about the true realities of having a child with differences. (Ironically, I struggle NOT with my son, but with society and systems).

Finally, I despise the word 'abnormality' - I hate to tell the medical community, but there is no such thing as normal.

Well, I seems that you want parents who get news if a chromosome/gene abnormality (yes, that's what they are) to get counseling in the vein of "look, it's not so bad, have the baby". Many people have the testing because they would choose to terminate an abnormal pregnancy. Abortion is still a legal right in this country and while not an easy decision, most people would much rather terminate sooner than later. So earlier, more comprehensive gene/chromosome tests that are not invasive = good. I don't see a downside. It seems you see a downside in that more abortions will happen. But that is still currently a legal choice, so why slow down science b/c you don't agree with that choice. I thank the universe for sequenom and the peace of mind mind their maternit21 test gave me at 10 weeks with no need for an amnio.

I went to your excellent post that you refer to from this past March and posted a response on it, belated though it might be. There are benefits for those unborn who are identified early with some genetic conditions that can have some consequences, symptoms, life risks mitigated with early preparation, say having the birth scheduled at a major medical center with doctor familiar with the condition to be at hand, having the parents familiarize themeselves with some issues they may be facing, and also, in some cases in utero medical intervention might be possible.

I think that pressure should be continued to be applied to those who are genetic counselors, and those in the medical profession, mental health counselors to give a favorable presentation to any such issues, while at the same time giving what available information that is there. It's a valid contention that disability groups are making about how they are being protrayed, presented and described is bigotry at its worst, edging upon eugenics. We haven't gone that far after all, have we, and maybe even gone the wrong direction from the quest to make the super race, throwing aside those who don't make the cut. (until the cut starts infringing upon us personally). Something for those who are presenting these prenatal finding to prospective parents should keep in mind..

Thanks for all of the comments!

Been there -- in my mind, the test of genetics counselling is what happens when an anomaly is identified -- not what happens when a parent is reassured that their child doesn't have a genetic condition (as in your case).

The counselling has to include information about real-life experiences with the disability and about how parents who have kids with disabilities adapt. There is lots of research (yes, science!) on this. It needs to be more comprehensive than a clinical description because people are always more than their diagnosis (whatever it might be).

The counselling has to be offered in a way that empowers parents to feel that they have a true choice -- to terminate or not. When I had this experience (not with Materni21 but with another test that's used to indicate whether you were at greater risk of having a child with Down syndrome) I was berated and made to feel irresponsible for having concerns about miscarrying my child during an amnio. That's not neutral and supportive counselling.

So parents experiences "after" they get a positive test result is what needs to be focused on if we're concerned about providing the best care to women, no matter what choice they make.

It's a little frustrating to have to fight for your pregnancy when there is a chance of "deformity" or "abnormality" (both terms I really detest).

In my first pregnancy, my son had a higher-than-normal chance of a neural tube defect. Every single doctor I had, and I mean EVERY SINGLE DOCTOR I came in contact with, started off every visit by sitting down, folding their hands, leaning forward, and asking me if I wanted to have an abortion. Every single doctor. Every time.

By contrast, for my second very high-risk and nearly lethal pregnancy that had no evidence of fetal abnormality, not a single doctor or nurse asked or even hinted at an abortion. In fact, it was accepted as a given that I wished to go ahead with the pregnancy at all costs, despite the risks to my life.

That is the difference, and that is the problem. An "abnormal" life is not worth less than a "normal" one.

Thank you Cass for sharing those markedly different experiences you had!

Interesting post. For sure there is a lack of counselling support and/or showing both sides. However, what would the other side look like? If you are not expecting a life with disability, some may not be open to the other side - or they may - there's no way to know and even that isn't fair because until you go through it you don't know what you'll do. A couple of points left out: religion AND accuracy. My friend was told that her son would likely have Trisome21 and was told of her option to abort. My friend who is a devout Catholic was so offended and would never consider abortion. Then it turned out her son is just fine (he's a pre-teen now). What if that information was given to someone and they aborted? You can't stop science but it is important to raise these issues so thank you, Louise! It is a biased world for sure.