Poster 456: Now More Than Ever: more counseling needed to balance more genetic information
Here are some images from the 2014 ACMG annual meeting. Take a photo tour with me:
Poster 439: Utilization of recommended materials
My colleague Stephanie Meredith is presenting today, 10:30 – 12, her poster on the “Utilization of counseling resources recommended in 2013 ACMG Statement on Noninvasive Prenatal Screening for Fetal Aneuploidy.” Her poster is Poster 439. I’ll be presenting my poster (pictured above), Poster 456 tomorrow at 10:30 – noon. (And, yes, I note the symbol for no photography, but it’s my poster, so I consented). Here now are pictures of the exhibits booths for each NIPS lab:
Ariosa’s Harmony booth
Illumni’s verifi booth
Natera’s Panorama, et al., booth (they had not yet set up the t-shirts they’re giving away)
Sequenom’s MaterniT21, et al., booth
And here are the booths from the organizations representing the aneuploidies the above companies’ tests test for:
National Down Syndrome Congress’ booth
SOFT (T13 & T18)
Pictures are supposed to say a thousand words, so I’m well over my word count for a blog post. I’d be interested in your thoughts of what you see when you look at these pictures (you can enlarge them by clicking on them). Please leave a comment below with those thoughts (and feel free to cheer on Stephanie for her presentation today).
I’m off to meeting with laboratory representatives throughout the day. Again, Stephanie and my work is only made possible through your support and donations at this link. Thank you for your support and wish us luck on a good conference.
Mark, I can’t adequately put into words the differences I see in the pictures above. You and Stephanie keep fighting for the truth. And thank you.
Thanks for shedding some light into the space.
The photos say it all Mark. Perhaps we could go for some global legislation that requires the companies making all this money from testing to donate a percentage to the grassroots organisations supporting the families and providing them with factual unbiased information to enable them to make informed choices.
Perhaps not I’m thinking. An international law to create a right for prenatal genetic selection would be a disaster. There is already an international law that bans birth prevention based on genetic difference and for very good reason, it devalues the life’s of the survivors.
As to taking money from those who seek to stop our children being born, to support others for the same reason would be an advocate dissonance.
Do you think women who use prenatal testing and terminate for t21 are not informed about their choices? Have you spoken with women who have terminated or is there research about women who have terminated that have suggested that information was withheld from them?
I have seen no research which indicates terminations are decided from lack of information;. Indeed, if you speak and work with women who do, it is from up-to-date information that is publicly available that leads them to their decision. Not from being ill-informed.
Vanessa
Let me respond to your questions and then pose a couple of my own to you.
Do I think women are not informed about their choices? A statistical significant number are. There are women who are surprised that they will be confronted with a decision of whether they wish to terminate after receiving a prenatal diagnosis. This is what leads to the notion of prenatal testing as a “gradual trap,” with women accepting screening not expecting diagnostic and then not expecting to have to decide whether to terminate.
Is there research suggesting that women is withheld from women making a decision after a prenatal diagnosis? Plenty. Indeed, a study to see if OBs were complying with the guidelines to offer prenatal testing to all women found that while near 100% were offering testing, only 29% were offering educational materials following a test result. More on women not receiving information recommended by professional guidelines here and here.
Now my questions for you:
You mention up-to-date information that is publicly available: please respond with links to this information you are referring to.
Lastly, ACOG, National Society for Genetic Counselors and American Academy of Pediatrics all recognize the value of putting expectant parents receiving a prenatal test result in touch with families raising a child with Down syndrome. I wonder, do you know any families raising a child with Down syndrome and what is your relationship with them?
Mark
You have not provided research about women who have terminated based on the experiences of the women themselves. Indeed, the 2005 study you posted was based on women who decided to continue their pregnancy. Indeed there is a conspicuous absence of research on this and the information provided to genetic counselors have very little or zero discussions of termination in their literature, as you know.
I have multiple family members and friends with ds in their lives and I’ve listened to some express they wish they had had more information about the profound range of intellectual disability coupled with physical problems. Some wish they’d terminated.
Which leads me to this question: if a genetic counselor gives contact information about families with David, do you think it would be equally ethical to give contact information for those who wish to be the voice of those who terminated? You posted pictures on the companies who tested and advocacy groups. Don’t you think the voice of those who terminated need to be heard as well by those who undergo testing?
Vanessa
I agree with your last statement–the experience of women who have aborted after a prenatal diagnosis is a huge blind spot in the literature. At this post I cited the few studies I am aware of, but one is from the Netherlands and the others are not specific to Down syndrome, but include Down syndrome. What is revealed in these studies is the the women who terminate consider themselves mothers; consider their children as babies, not fetuses lacking moral status; but terminate out of a concern for the burden the condition may put on their family and their child and out of a feeling of lack of support and care.
It is understandable why there is so little research on this population: think of the difficulty in identifying a statistically relevant number of women willing to talk about something that all can understand why they’d prefer to keep private and move on. Hence, why I cite to the studies that do address what information women who receive a prenatal diagnosis receive. The study of the 500 ACOG fellows who reported only 29% provided educational materials applies regardless of the choice the women make–the fact is, a super-majority of medical professionals are not providing information to their patients about Down syndrome with a prenatal test result.
Regarding discussing abortion in the materials provided to patients: the Lettercase booklet Understanding a Down Syndrome Diagnosis does discuss abortion along with the other options of continuing and adoption. This is why it is the recognized resource by NSGC, ACMG and has the imprimatur of ACOG, because representatives from those organizations said any information provided to patients had to cover all three options, as this is consistent with legal and ethical obligations to provide all options to expectant mothers.
Finally, to your last point, the NSGC guidelines on delivering a prenatal diagnosis specifically says to refer patients to parents who have aborted if they are considering abortion so they can learn from those individuals’ experiences.
Now, my question to you, which is not meant to be challenging, but to get to specifics: when you say “multiple family members and friends with DS in their lives,” how many exactly? What do you mean by “in their lives?” And how many have expressed a wish that they have aborted out of that total number?
By your answer, I take it that you personally do not have a relationship with anyone with Down syndrome. Since you recognize the value of getting to know from others’ experiences, I hope you will seek out an opportunity to get to know someone with Down syndrome. I expect your local Down syndrome support organization would have many opportunities for you to volunteer or attend an event. I hope you will do so and share your experience with me.
What I see is this…advocates for Down syndrome research NEED MORE MONEY. I think the amount spent on research is appallingly low. I think the amount spent on awareness is pennies compared to what it ought to be. It’s mostly a grassroots effort but our collective voice could be so much louder. I had a prenatal test and I appreciated the time to prepare before my baby’s birth. But it’s key that women are informed properly and given unbiased information. For a doctor or genetic counselor to recommend termination based on 30 year old stereotypes is doing a disservice to families. I have lots of words on this topic and I could go on and on, but I’ll stop here. 🙂
I wanted to say that your assumptions as a bio-ethicist trend towards unsupported realities, such as the other post you listed about the cost-effectiveness of NIPTs and the response from the company’s representative. You seem to overplay your hand with your determination to link DS to termination at every turn. The first being is I would not have posted here if I did not have DS in my life and observed it from afar. I have 5 members of my extended family with it, and I also help in our faith community with special needs children, so I am not posting from a lack of information.
My sister has a daughter with DS who is 16, quite low functioning, cannot toilet on her own, with many medical complications from the DS. My sister and I have discussed – for years – the topic of terminations in the DS community and she herself has often stated she felt the types of information given at birth and throughout the life of her daughter, including now, overlooks the challenges that come with raising an intellectually disabled child. She has been approached over those years by families with a prenatal diagnosis about her life and has been unsparing with her assessment. Some have terminated and others have not, she does not feel it is her position to rally for life if a family feels it is not in their best interest.
She also has spoken about her conversations with other mums who have children with DS who also feel that perhaps termination was an option they would have considered more and some admit they wish they had terminated or at the least, some envy those who did. Since these are private conversations, they are not welcome in the DS community from those who don’t seem to be able to separate their own lives with the lives of others.
I myself terminated for a severe – but not fatal – fetal abnormality, but not a chromosomal issue.
Your comment seems to be repeated across some disability advocacy thinking, that people who terminate lack information but it seems to be a position that has very little data behind it to support that claim.
In your initial comment you represented that “I have multiple family members and friends with ds in their lives and I’ve listened to some express they wish they had had more information about the profound range of intellectual disability coupled with physical problems. Some wish they’d terminated.” (emphasis mine). Based on your comment here, that “listened to some” turns out to be one person, your sister, who then told you what she says others told her. So, a sample of one and hearsay for all the rest. Hardly a sound basis to be considered well-informed. When you have a study supporting your point that women who selectively terminate for Down syndrome are well-informed, I hope you’ll share it.