Researchers at Standford want to know what you think about prenatal testing for Down syndrome and other genetic conditions.
Part of the group that authored the article “The Best Ethical Practices for Clinicians and Laboratories” on non-invasive prenatal testing (NIPT) are holding a survey to find out what you think about it. I completed it over the weekend and share it here because I think this is a real opportunity for closing a gap that has persisted in how prenatal testing is done.
Take the survey at this link.
The recent professional and academic statements on NIPT recognize that the high cost of the testing will not make it accessible to many expectant women. Therefore, they argue that justice (fairness) requires that NIPT be made affordable so that all expectant women have access to it, not just women of means. But, the administration of NIPT–and indeed all prenatal testing–has been controlled and dictated by elites.
Due to its scientific and medical nature, prenatal testing is first developed by the elites in the scientific and medical professions. Then, once its accuracy has been shown through research studies, the leaders of professional medical organizations–elites among elites–write recommendations on how prenatal testing should be offered and to whom.
And, yet, since the dawn of prenatal testing, the same gaps in information and understanding between what the elites recommend and how prenatal testing is actually administered has persisted.
You can go back and look at articles written in every decade since the 1970’s where commentators [1] note the development-of-the-day in prenatal testing: 1970’s, amniocentesis and abortion following Roe v. Wade; 1980’s, AFP testing and wrongful birth lawsuits; 1990’s, the discovery of the association between the nuchal fold and aneuploidies, and the discovery of cell free DNA in the mother’s blood stream; and the 2000’s, with the implementation of first trimester testing through nuchal fold ultrasound measurement and now the advent of NIPT since 2011.
The authors commenting on these developments will then [2] note the ethical issues associated with prenatal testing, highlighting that it should be offered to respect a woman’s right to know, but recognizing the difficulty in adequate counseling. And, then, the article will end by [3] noting that science is progressing beyond our readiness to ethically implement it, so the authors will call for all stakeholders to have a discussion about how this new technology should be administered.
But, the stakeholders that are never invited to the table are those who are actually living with the tested-for condition or even those who will be offered the testing.
The elites who write the recommendations and ethical commentary on Down syndrome prenatal testing do not seek the input of individuals with Down syndrome or their families, even while recognizing the risk of stigmatizing Down syndrome posed by prenatally testing for it.
Similarly, and perhaps surprisingly, elites of the medical organizations who write guidelines do not seek the input from their own patients about how prenatal testing should be administered. Instead, the guidelines are based on the scientific studies (often funded by the test manufacturers) to prove their statistical reliability, and then after the guidelines are published come the studies showing that expectant mothers do not understand the testing itself or the test results; that there are inadequate genetic counseling services in both number and quality; and, that the information needed to accompany a test result is not regularly provided to patients by their health care provider or by the testing laboratory.
The Stanford survey offers an opportunity to bridge this long-standing gap and I appreciate the members of the Stanford group reaching out to seek the input of many who are interested in the administration of prenatal testing.
The survey begins with a story about a woman who is pregnant considering prenatal testing and asks your initial opinions about the situation. Then, quotes are listed that represent the array of responses people have to the issues involving prenatal genetic testing and you are asked whether you agree or disagree with each position and why. Participation in the survey is anonymous, inviting honest responses from participants.
Readers of this blog are already interested in prenatal genetic testing, so this survey presents an opportunity for you to share your positions. Allow yourself some time to provide thoughtful answers, so that you do not rush through.
I hope you will take advantage of this opportunity and complete the survey. It is one of the few times when non-elites have a chance to have their voice heard about how prenatal genetic testing should be ethically administered.
Medical researchers do study the affect Down syndrome has to individuals and families but through unbiased studies. See http://www.research.leiden.edu/news/stereotype-of-children-with-down-syndrome.html
This survey will be biased because those responding will be self-selecting.
Prenatal screening should be part of the standard of care. Those asserting they would not abort before knowing the result of the testing might change their mind.
Feel free to bring your own willfully ignorant bias to the study by completing it. I still wait for you to actually spend time with an individual with Down syndrome before posting another comment. A mere visit where you did not actually interact with an individual with Down syndrome is no better than my example of the Bronx Zoo patrons gawking at Ota Benga.
I’m curious why the study you link to you consider unbiased and what studies you are suggesting are biased. I suspect it’s because you consider studies that support your view is what you consider unbiased.
And, my point wasn’t that researchers do not study Down syndrome–educational, sociological, and other researchers do research on living a life with Down syndrome. But when recommendations are made about how prenatal testing for certain conditions should be administered, and ethicists call for all stakeholders to have a seat at the table, that process rarely includes representatives from the tested-for community, and not at all in the case of Down syndrome.
“I still wait for you to actually spend time with an individual with Down syndrome before posting another comment.”
Bear in mind that this may not be safe for an individual with Down syndrome. Kraus is on record advocating that babies with Down syndrome be killed. It may not be safe for anyone with the condition to be exposed to his hate.
Studies by medical researchers are biased because they see disability through a medical model, not one that is based around people with variable ability (that’s all of us, LoL).
The studies by Brian Skotko on Down syndrome are biased because of his sister and his pro-life beliefs. The studies he did about happiness are biased due to self-selection bias, see http://en.wikipedia.org/wiki/Self-selection_bias. The study should be redone with a random sample not biased toward memership in support groups.
From http://www.mercyhealth.com.au/WorkArea/DownloadAsset.aspx?id=5384
These studies were subject to a selection bias. The sample was taken from those on the lists of families who belonged to Down Syndrome non-profit organisations in the United States. The cultural diversity of the United States was not well represented. There was also an over representation of those from a higher income bracket than the national average salary.
I figured you were referring to Dr. Skotko’s studies. So you say his studies “are biased because of his sister” yet link to a study you say is unbiased whose author has a brother with Down syndrome. It seems you define “bias” as “studies with results I disagree with.”
Dr. Skotko acknowledges the limitations of his studies in each of his publications and calls for further studies. You are not identifying anything Dr. Skotko hasn’t already done in his actual studies.
That said, if you have a link to the actual study, not the press release, that you originally linked to, please share that link.
The original comment replied to has been edited at the request of the commenter to include “and his prolife views.” This edit was requested after this reply was posted.
Direct experience is a source of true knowledge. So, by having a sister with Down syndrome, means that Dr Skotko has direct experience of living with the condition, providing him with true knowledge. That’s not bias, that’s fact.
Bias, is what you demonstrate as you have no direct expereince of living with Down syndrome. As we all know, you are biased by extreme hate and promote the murder of babies with Down syndrome. I hope that one day you can find the love that its hidden under your hatred.
Growth, development and social functioning of individuals with Down syndrome
https://openaccess.leidenuniv.nl/handle/1887/20980
Mark – using the word ‘elite’ is very off putting. It seeks to homogenize a diverse group of people with different backgrounds motivations, self-perceptions, and beliefs…..never a great position when advocating for more thoughtful and inclusive behavior.
Jeffrey – I 100% agree with you. Skotko’s studies could be totally riddled with selection bias and may provide little real information. On the other hand, once we view the rigorous, population based study done by Vanderbilt on divorce rates, we are left with a peculiar phenomenon – lower divorce rates in families with children with DS. Meanwhile, other disabilities show higher divorce rates. We then have to wonder ‘why’. I think Skotko’s studies give us some interesting qualitative data to paint that picture of why.
His studies could have some biases in them, the question is how much? And would that meaningfully impact the results? To understand that we have to answer two potential
1. What % of the DS population belongs to a support group?
2. If#1 is large, how different are attitudes in those who do not belong to a support group?
Let me try to get us a figure of merit on #1. I live near Los Angeles which has approximately 3% of the US population. If we assume the incidence of As in Los Angeles is similar to the average and we assume that this population is equally dispersed across the 60 year lifespan, there should be about 1300 kids under 10 yrs old in the area. Considering about 53% of Americans have Facebook, there should be about 650 kids with DS who have a mom on FB. I know of a group that is just over 650 parents of children with DS from the area on Facebook. It is primarily moms and primarily under 10 yrs old. This does not include all of the parents of children from this “cohort” I know from other support groups who I have never seen use this group. By my math, well over 80% of these parents have support.
Older parents probably are not as saavy on finding these support groups…or they have found friend and other less formal support networks. But, let’s just assume the younger demographic is the more relevant comparative base.
If Los Angeles is a microcosm for America or even just the top cities in the US, it would seem his study is very applicable to a huge swath of the population. Furthermore, any biases, in the worst case, could only serve to dilute his 99% to 79%…the message would be qualitatively the same – overwhelming positive experiences. Qualitatively, living in the community, I can tell you that most folks in metro US areas are connected to support networks of some form – I cannot speak for rural America (but assume they have plenty of avenues as well)!. Without it we never learn the secret handshake of how to get therapies, special educational services, find good doctors, learn about special needs trusts, etc.
In short, you can discount Dr. Skotko’s studies, but taken in concert with all of the other data available makes it a tenuous argument at best.
My name is Marie Ideson and I am wanting to pre warn expectant parents that what happened to me in 2004, could and will happen to other families. From an early age we are told to trust the medical profession, but what I experienced was a horror story.
On the 21st September 2004 I found out that I was expecting a baby with Down Syndrome, by the 22nd September 2004 I was conned, bullied, lied too and robbed of my baby. I was told by these so called professionals that my baby was worse than a Down Syndrome baby, that she had 64 abnormal cells and a Down Syndrome baby has 60 abnormal cells.
How could I bring a baby into this world to suffer, operation after operation and thats if its born alive. They said that my baby was so bad, that they could even arrange the burial. Lie after lie I was told.
I was in total shock and trauma, when they did this to me and I also had my other children with me. But that didn’t matter to them they just used the situation and said what about these, the burden would end up on them, and thats if its even born alive. I did try to sue and even got my case to a barrister who confirmed that I had been bullied but to fight such an establisment would cost me everything and that they would close ranks. My solicitor at the time told me to get it out there anyway I could and to warn other expectant parents that this could happen to them. At the time I said to my husband, what if there lying and he said that they wouldn’t do that to you, but they did. These people did not have any consent at all for what they did to me, my baby was wanted yet they bullied me into a termination. If you think that this is a total abuse of power and of human rights then please click onto my petition at the top of the page and sign. A Down Syndrome baby has as much right to be here as anyone, who are these people that play God, that they can decide who has a right to be here and who does not have a right to life.
The fact that my little girl Lillie would have been down syndrome, was not the issue it was all the lies that I was told. I have worked with down syndrome adults and already know how loving they are and what they can contribute to society. I was advised to have downs testing, and told that if my baby was found to have down syndrome, it would just prepare me for the birth, another lie!
At the time I said to my husband, what if they are lying and he said they won’t do that to you, BUT THEY DID, if this had not happened to me I would never have believed it and find it hard to comprehend such evil. I know someone else that once strived for a perfect world, I most cerainly would not want to go there. I did go on to have a little boy who is now 5years of age, I had no testing at all and thankfully he is here and safe, I will never trust these so called professional people againI
A few years ago downs testing was only offered to mothers 30 years and over, now it is offered to every expectant mother. Since 2004 more than over 8000 babies have been terminated! If these tests were about choice then yes it is up to the individual, but I can speak from experience and know that when they have these results, then there are no choices only what they decide to tell you, a total abuse of power! Since losing my little girl due to lies. If I had known what I know today I would not have had any testing at all for down syndrome and she would have been here today. I urge other parents to consider this, hence there are no choices, only what these professionals decide to tell you
You can contact me either on Facebook, or Email me at marieideson[at]googlemail[dot]com
Please click on the links below, regarding my story, I was featured in the national paper the Daily Mail and have also appeared on the national television programme This Morning, to try and raise public awareness that this can and will happen to other people.
Hello everyone, I would like to express my opinion as a mother . I have been blessed with normal children but my sister has had a Down’s syndrome child – but she too is blessed for after miscarrying three times …. Unfortunately, many mothers choose to abort when they find out that they are carrying a handicapped baby. My sister found out following results of an amnio but she chose to keep the baby. At the time non invasive prenatal testing was no available, all it would have done would have been to eliminate the risks of amniocentesis. I have been reading a lot about these non invasive tests and I wonder in what ways they will change the outcome of prenatal tests from an ethical perspective. I think the below post exemplifies the attitude my sister took ; she saw a prenatal test not as an opportunity to terminate the pregnancy and try for a “normal” baby , how could she after losing 3 of them? She saw it as an opportunity to get prepared for nurturing a child with a difference, with special needs. She armed herself with books, began meeting moms with Down’s children and joining groups and speaking to specialists. She is today the happiest and proudest mum in the world. Society’s attitude is unfair and cold – Down’s syndrome children are capable of immense love and generosity, they are creative and their joy for life is wonderful to see; Yes some Downs are more able than others and more independent,,,but then aren’t some normal kids too?How many normal children make nothing of their lives, accomplish nothing, and others just shine and stand out…
http://www.mommywholovesgiveaways.net/2012/12/guest-post-prenatal-dna-testing-autoimmune-illnesses-and-paternity.html
http://www.zmescience.com/science/biology/fetal-dna-sequencing-maternal-blood/