Monday, June 09, 2008

"Earlier is better"

I'd never heard of the company Sequenom before reading about it on Waldenhouse. They are developing genetic tests that will allow detection of Down syndrome without invasive amniocentesis testing. Their preliminary tests (using simple blood samples drawn from volunteers at various Planned Parenthood branches in the US and abroad) have yielded results that are 100% successful in detecting Trisomy 21. And their stock is "soaring."

I registered and listened to a conference they presented to potential investors last week in Vancouver. (You can find it here. It's nearly two hours long and academic, but very interesting.) The "Holy Grail," as one presenter called it, is finding a non-invasive procedure for detecting Down syndrome "in the first trimester."

Why is detection in the first trimester so important? I won't state the obvious. Another presenter said that "earlier screening and diagnosis is better for the family." He re-emphasized that he thinks these tests will soon be successful during the first trimester and stated that "earlier is better."

Genetic research is an extraordinary field, full of promise. But it is not value-neutral. "Earlier is better" is a value-laden statement. There's part of me that wants to applaud a non-invasive detection method that is as simple as drawing the mother's blood. But there's a bigger part of me that dreads what I know it will mean for the future.

10 comments:

Michelle said...

Tom, thanks for stopping by earlier. I share your concrens. It is obvious that they do not intend to stop with DS. And that we all had better be prepared for diagnostic evaluations of every "malady" under the sun, from autism to obesity. It is a strange and scary new world.

Elizabeth said...

I suppose I mentally know this stuff exists/happens, but to have you write it out...wow. What a waste of creative talent, time, energy, and money. -So- many other things could be researched. Insulting and gross. This does not increase our humanity.

Kim Ayres said...

Forgive me - I couldn't face clicking the play button. I will if you really want me to, but I am all too aware of the idea of creating a genetic master race and its implications and it terrifies the life out of me.

waldenhouse said...

Hi Tom, thanks for popping in and letting me know you wrote on this. I always appreciate the way you think through things. I first heard of this company from a thread on downsyn.com and then did some research myself. I hadn't been able to bring myself to play the audio - and with your highlights I probably won't. As Michelle said it seems clear Ds is just the beginning.

CristyLynn said...

So, for the past almost 3 years now, I've been more emotional than I ever used to be...somehow those pregnancy hormones never left me. I appreciate you writing about this, but I feel such strong emotions at the moment that I can hardly form a comprehensible statement to express my grief.
What are they going to do next?!

Nick McGivney said...

I can almost hear the hushed and reverential sop of that 'earlier is better' although I cannot bear to listen to Sequenom's take on their pending billions. There's a protocol to be followed after all, and the truly gut-wrenching fact is that in corporate business NOBODY follows due diligence quite as nerdishly and correctly as the pharma and medical companies. Doing right and being seen to be doing right is the credo. Which leaves as a little at sea as to what is 'right'. Ok, it doesn't leave us at sea at all. It shows very, very clearly that what we - parents of kids with an extra chromosome - already know is unimportant. Children deemed lesser must be neutralised earlier. It's better for the family, no? Man, this gets me so angry, and I am thankful for your calm and thoughtfulness, Tom, because it makes me reflect more deeply. In Ireland abortion is illegal. This in itself is as contentious as you might suppose, but I am thankful that it shelters us somewhat and spares us the ignominy of being quite so savage as to say that 'early detection is better for the family'. It's vile and odious and Sequenom has about ten years now to recoup its r&d costs before the patent expires. It behoves us all to spread positive knowledge. Sorry if I'm ranting. It's got me angry.

Nick

Monica said...

All I can think of is...sad..Don't people realize there are no guarntees no matter how genetic perfect a person is!

Chris said...

This is all scary stuff because as Michelle says it is just beginning. I am all for genetic research, but with the knowledge gained comes the power to destroy and that is so scary. Who is going address all of the bioethical issues raised by all of these advancements?
(besides us bloggers)

bella said...

I come up against similar questions, as "early detection" is actually a big part of my world, working in birth.
And no, it is not value neutral.
And part of all of this scares me.
I wonder if this level of science will be the thing that Leo's generation will take for granted and normal and I'll be the old fuddy duddy who wants to go back to the good old days and can't keep up with the times.
But I wonder, does anyone see where there is headed?
We do not have the ethics to keep up with the technology, science, the world we are stepping into and living already, even now.

Anonymous said...

Could we put a more positive spin on "earlier is better"? The company may not mean it this way, but it could also mean:
more time to read up on what to expect/plan for
more time to build financial resources
more time to prepare the rest of the family for the new baby's needs
moret ime to reach out and make contact with other families
more time to come to terms and arrive at a space of hope and gratitude instead of panic and fear.
Again - not what the company's talking heads may mean by the phrase, but we humans are also allowed to interpret and make our own meanings. An earlier detection may instead mean all the above things to a family.