My field of medicine is going to be on CBS 60 minutes tonight.

[Barack_America]

http://www.cbsnews.com/videos/60-minutes-preview-how-gene-sequencing-can-change-a-childs-destiny/

It's called "Pre-implantation Genetic Diagnosis" (PGD) and involves using gene sequencing and other techniques to tell whether or not embyros carry certain diseases. Or whether a new baby would be a HLA-match for an already born child who is sick.

As an example, a family has a baby with Tay Sachs. Sadly, the child does not survive. Both parents have their DNA sequenced and are found to be "carriers" for the disease. Not wanting to go through this heartbreak again, they decide to do PGD and go through IVF to produce embryos. We test the embryos and tell the clinic and family which embryos don't have the disease.

It is a very powerful and still very controversial field of medicine. I'm tremendously proud and honored to do this for a living.

I'd be happy to discuss it.

[madamvlb]

1. Very interesting...

Will you be able to gene sequence breast and ovarian cancer?

[Barack_America]

2. BRCA1 & BRCA2 are two of our most common gene targets.

So, yes.

[Fred Sanders]

3. Thank you. I hope you came to the right place to discuss medical science, given that more than

a few here have recently switched sides in the war on science.

I will read the article and give it a shot, the first thing that comes to mind is the ethics surrounding the public use of this technology.

[Barack_America]

5. Lots of ethical considerations.

My biggest concern is the general lack of insurance coverage for this sort of thing. So right now, it's only available to the wealthy. It's the IVF that's expense, our testing is comparatively "affordable".

Still, my greatest wish is it to be available to all.

[kestrel91316]

24. You'd think that, even though it's extremely expensive,

it WOULD be cost effective. I mean how much in medical bills does the average family with a single Tay-Sachs child incur during that child's lifetime? And how much does the insurance company wind up paying?

I didn't used to support insurance coverage for that sort of thing, but it really does make sense. Even for the breast cancer genes.

What we REALLY need is Single Payer so all the money now being thrown away on insurance company overhead/embarrassingly high pay for executives could go to pay for ACTUAL MEDICAL SERVICES.

[Barack_America]

26. Pre-natal (in utero) diagnosis and termination is cheaper...

...and is covered by insurance. The families that come through us want to avoid termination. Some for religious reasons, but many who just don't want to spend 10 weeks agonizing over the health of the fetus, hesitation to bond with the fetus, etc.

I also think insurances should cover what we do because it is so much safer for the patient to do IVF and identify multiple healthy embryos, than to face termination after termination and all of the medical risk associated with attempting a healthy natural pregnancy.

But we all know the direction women's health is going these days. It's really the IVF coverage that is the issue here, and the continual notion that women should be punished for waiting to have children. The charge for our services is a fraction of the IVF cost.

[Ykcutnek]

4. Keep up the good work and thank you.

Your kind of work is under-appreciated.

[mopinko]

6. i love du.

this is on my mind. apparently i carry and have passed on to my daughters a mitochondrial defect. without this kind of hi-tech help, i wont be having any grandkids.
the easiest thing would be to select only male embryos.

we are in the late stages of diagnosis, but there are a lot of healthy females in the family. i am hoping that selecting a healthy female embryo will also be a possibility. neither of my girls are looking at starting a family at this point, but i am really hoping that they will have the option to do that if they want to.

the doc hasnt said yet what he is looking at, as the kid gets pretty worked up about the many things that have been floated in the past to explain her many health problems, but what i think they are looking at is mitochondrial autonomic dysfunction.
she would presumably have a pretty hard time w pregnancy, and is not even considering it right now. but i come from a big family, many nieces and grandnieces. so this is super important technology for my whole, extended family.

really exciting times we are living in.

[Barack_America]

9. Mitochondrial disease can be tricky.

All depends on if the gene is in the main genome or the tiny mitochondrial genome. Yours sounds like a gene on the X chromosome, which means PGD would work for it.

[mopinko]

14. yes, female specific problem, for sure.

fascinating science, but fits neatly in the category of stuff i would rather not have to know.

[jwirr]

7. It sounds like very interesting and worthwhile work. Like all things it can be put to both good and

bad uses. The uses you mentioned are worthwhile pursuits. I am sure that like much of science the rw will find something to yelp about.

[Enthusiast]

8. Thanks. I would watch it but I am boycotting 60 Minutes.

Several 60 minutes programs were nothing but right wing propaganda. They are dead to me.

[AngryAmish]

10. Fast forward ten years in the future

Assume we have a pretty good handle on the 190 or so gene sequences highly correllated with IQ. (I made that number up, I have no idea what number will be found).

Will you genetic screen for IQ? What are the ethical concerns?

Even more controversially, would you screen for homosexuality, either pro or con? (It is unclear if homosexuality is genetic, epigenetic or an emergent behavior...just assume genetic for discussion.)

[KingCharlemagne]

11. Excellent questions and concerns. On the flip side, recent studies have suggested that as

many as 4% of the population may have Anti-Social Personality Disorder. You know, the disorder common to CEOs, lawyers, Republicans and . . . sociopaths? (Just joking about 'lawyers,' btw

Studies also show that ASPD may have a strong genetic component. IOW, ASPD may be 99% nature and only 1% nurture (if that).

With those two things in mind, would you be opposed to screening in utero for ASPD, assuming the genetic markers could be identified and isolated?

[Bluenorthwest]

13. Excellent questions call for excellent answers, but you gave no answer at all and merely

asked another question.

[KingCharlemagne]

15. Damn, I hate when I go all Socratic on myself with that whole question-heuristic

thing. Instead of just answering the danged questions!

That said, I'm not a medical ethicist, so I'll be offering mostly uninformed opinion.

I support full reproductive freedom, including free abortion and contraception upon demand. I suppose my general response is that I would like decisions about whether to screen and what to screen for to remain the purview of the doctor-patient relationship. IOW, none of my or society's business.

I don't think I'm responding to the questions as asked, though, and may be side-stepping. Can you re-frame the question(s) you'd like me to answer?

[mopinko]

16. he is not talking about in utero screening. he is talking about in vitro.

in glass. pre-implantation. this is only done with in vitro fertilization.

and as someone who has a wide streak of mental illness on those genes, too, i would jump at the chance to wipe that out of the family.

[KingCharlemagne]

18. Ah, geez, see I knew I should have STFU instead of rushing in

where angels fear to tread

Thanks for the annotation. I stand corrected but will let my original faux pas remain for thread integrity purposes.

[mopinko]

23. 'sokay

i forgive ya. not a bad thing to point out.

[bananas]

19. So a "Master Race" of ASPD's could be created - great idea!

Parents would want their children to be wealthy, so they would destroy the non-ASPD embryos!

[KingCharlemagne]

21. My bad. I thought we already had a master race of ASPDs (white Republicans :) But

yeah, this stuff definitely cuts both ways in a manner terrifying to those of us educated in the Liberal Arts who have spent too much time being freaked out by Orwell, Huxley and Margaret Atwood. Time to 'man up' and face this Brave New World without qualms or squeamishness, I say. No more of this squishy liberal touchy-feely crap!

[Barack_America]

12. IQ, appearance, sexuality, etc. are all too complex of traits.

Too many genes involved and too complicated of intergenetic interactions. Even doing just 2 diseases at a time reduces the number of unaffected embryos to 25% (50% * 50%).

[Helen Borg]

17. The ethical questions remain...

The NSA could not gather information on all exchanges 10 years ago. Now they can. Most likely, what is "too complex" now, will be routine in 10-20 years. So, I think the poster was asking about what ethical question this raises... It's a damn good point.

[Barack_America]

20. I don't shy away from the ethical considerations.

We just have enough issues to consider already. These mega complex disease would require hundreds to thousands of embryos to get one "desirable".

[Helen Borg]

28. Can you recommend a paper?

I can probably search Web of Science or PubMed for it, but since you are in the field probably you know of some recent paper that addresses present and future ethical issues? Can you provide a ref? Thanks.

[Barack_America]

48. You know what, I don't offhand.

But I know who to ask at work. Sorry, I'm pretty focused on the science. I know the NYT had a series of articles earlier this year.

This is the one that immediately came to mind:
http://www.nytimes.com/2014/02/04/health/ethics-questions-arise-as-genetic-testing-of-embryos-increases.html

[demigoddess]

34. I do not believe there is a gene or 90

that decide intelligence. More that the genes are healthy and all there and the mother carries the child well.

[bananas]

22. Intelligent Selection ends the debate between Intelligent Design and Natural Selection.

It's the Reese's Peanut Butter Cup of philosophy!

"You got your Intelligent Design in my Natural Selection!"
"You got your Natural Selection in my Intelligent Design!"
"Hey, these two great philosophies go great together!"

On the other hand, I could have had a Snickers Bar...

[Botany]

25. You were born to do that kind of work ..... it is in your genes

Nothing wrong with good breeding and understanding it ... we have been doing it for years.

[Barack_America]

27. This is available for veterinary medicine too.

I know a guy who is investigating this in thoroughbreds, which is a whole other can of worms.

Selecting FOR desirable traits is obviously less of an ethical concern in animal husbandry. Now horse racing, on the other hand...

[Treant]

30. Any Competition

Even plant breeding, if you could select for the proper traits from a handful of seeds. There are prizes for those as well.

But if it's available to everybody--and in the field of horse racing there's universally a lot of money--the concern is diluted.

For me, a home backyard plant breeder, I have more fun finding out what randomly crossing genes give me. Sometimes it founds a new line in my gardens. More often, it's a curiosity with no real advantages that gets trimmed out after it declares itself.

[Treant]

29. Awesome Science!

Making certain that a child doesn't suffer from the diseases that a parent carries is a wonderful thing. I've chosen not to spawn in order to avoid passing on the not so great genetics I got. Not having a baby with Tay Sachs goes far beyond those problems and the only thing I have for those parents is respect. They understand the decision they're making and being very responsible about it.

I don't think you can test for my issues (and it's too late for me anyway), but if you could have at the time...well, maybe.

Sure, there are ethical questions moving beyond that and into trait selection (or trait insertion when that technology comes to fruition). We'll have to deal with those. And we will.

[hotrod0808]

31. This does interest me.

I lost my only child, Sofia, to Spinal Muscular Atrophy (SMA) type 1 on March 20th. It is a genetic disease that my fiancee and I both carry. As a factory worker and a medical receptionist, we can't afford something like this practice of medicine, but it does open up some options for a more fortunate couple who wants to expand their family. I hope that people who can pursue this option to expand their families do pursue it.

[Marrah_G]

33. ~hugs you~

I am so sorry for your loss, I truly am. Hopefully someday no parent will have to lose a child to diseases like this.

[Barack_America]

37. I am so sincerely sorry for your loss.

I am sure that Sofia was such a beautiful and wonderful little girl. I can't imagine losing something so precious.

The lack of access to what we do honestly haunts me everyday. My own family could not afford this. Yet if we were all magically transplanted to Massachusetts, it would accessible to us all as it is covered there by mandate.

And why is it generally not available to the rest of us? Because IVF is typically not covered by insurance. Why? Because we imagine that family having IVF is due to a "selfish" woman who waited "too long" to have children. Obviously, your family's story highlights why that is so far from the truth. IVF is seen as a "lifestyle choice", unlike Viagra for ED, which is clearly a very serious medical problem.

I honestly see lack of access to IVF and genetic testing as part of our nation's general disregard for women's health.

Again, I am so sorry for your loss. I so wish it didn't have to be so.

[hotrod0808]

50. She was.

She couldn't walk, talk, swallow, or even breathe on her own. Yet, she had a personality as big as the moon. She loved cartoons, mommy, and bubbles. Her death is like an open wound, and we are scared to death to try again.

This life is empty without her in it, and not having another child is like living life without purpose. I really do hope that this technology becomes commonplace, because the other downside is that putting another child through this would be like sentencing it to death. I'm already dealing with major depression, and I don't want to push myself further down the line.

[Marrah_G]

32. Thank you so much for what you do

My godson died of Tay Sachs. His name was Niko and he was 4. it surprised everyone as neither parent was Jewish (that we knew of). They tried again and the testing came back that the new fetus had TS also. Third try they had a healthy baby boy.

If they could have been saved the hell of both Niko's short life and the subsequent abortion, it would have been amazing.

Thank you for what you do.

[Barack_America]

35. There is a very high incidence of Tay Sachs...

...carrier status in other populations too, notably French Canadians. There is so much more risk out there than people generally know about. Our field suffers from a tremendous lack of access, both in the knowledge that this possible, and economic access, due to lack of insurance coverage. I'm hoping this 60 minutes piece can help with both.

Stories like that of Niko are quite frankly why I go to work every day.

[Marrah_G]

38. I can give a little background

The father is indeed French Canadian and German... They are from a city with maybe the highest number of French Canadians in it- but it was the first case in 20 years in RI at the time. The mother is where it gets interesting. She is from a totally French Canadian family.....BUT is adopted and is of Puerto Rican decent. It was a strange bunch of doing that put those genes together We had heard that the french canadian cajun people have seen a bunch of it also.

Maybe someday you will all find a way to make sure no family ever has to go through what those families go through. I remember the morning his mother found out...she was knocking on my door at 6 am, she was just shaking. I think of his everytime the snow is falling and everytime I hear the lion king songs....

[KittyWampus]

36. I am so ambivalent about this technology. Especially since DNA is not a "holy writ"

declaring for certain a trait will absolutely be expressed.

On the other hand, this technology is just another level to selection that humans have practiced throughout civilization.

Like all technologies, it's a double edged sword.

[pnwmom]

43. Don't those genes in the embryo always lead to Tay Sachs disease?

It's hard to imagine a disease more appropriate for this technology than Tay Sachs.

[nitpicker]

39. It's not that simple

Scoliosis.

All of a sudden (at age 15) I was diagnosed with it close on 40 degrees.

And it took over 30 years for the rubbing stigmata scar to fade.

My sister was SO envious of the attention...

Untill she got diagnosed too!

And had to visit "rack and grill" ((aka R&G orthopedics)) to be locked into her own "plaster maiden" (( Milwaukee brace))

As far as I know, there is right now NO way (other than leg length, family history and sprawling parents=to-be face down on an examination table) TO GET A CLUE. On this issue.

So now I'm one of Stacy Lewis"s #2 fans...

[frazzled]

40. We were tested for Tay Sachs more than 30 years ago

It's just one of the questions my OB-GYN routinely asked. Since my husband and I were both of Ashkenazic ancestry, we were told we really should be genetically tested to see if we were carriers. (We'd never heard of it until that time, but complied with the testing; neither of us was a carrier).

They certainly didn't have DNA sequencing back then; so how did they test back then? Just wondering.

[Barack_America]

41. Enzymatic assay.

Most likely. Like how they still do the newborn screenings.

The Tay Sachs gene encodes an enzyme; measuring the amount of enzyme activity there is in a blood sample can tell you how much functional enzyme there is. Carriers of Tay Sachs would have roughly half the normal amount (which is still enough to not be symptomatic).

[Barack_America]

42. Quick kick since it is about to start.

Sorry Colts fans.

[pnwmom]

44. Good for you. You will bring hope and love to many families. n/t

[Barack_America]

45. Thoughts?

FWIW, I don't do the "virtual baby" thing. Not sure what to make of that just yet, more homework required.

[KMOD]

46. I tivo'd it.

Football game was on. I'm looking forward to watching it tomorrow.

Fascinating and interesting line of work.

[LeftyMom]

47. Interesting. A friend may be going through this soon, I'll have to find it online and send it to her

My best friend's nephew was just diagnosed with Cystic Fibrosis. There are no other cases in the family and my friend's brother had no idea he was a carrier. Right now it's not looking good for the little guy, sad to say.

My friend is making arrangements to be be tested to see if she's also a carrier. She's been undergoing treatment for PCOS for ten years with no luck and is likely going to have to do IVF anyhow (so far she's done metformin, clomid, all the usual less invasive options for PCOS,) and this is just an added and unexpected complication in what's already been a very long road. We're all hoping she and her husband aren't carriers, she's in the very weird situation of being on birth control until they find out, after years and years of desperately wanting to get pregnant she definitely doesn't want to risk a very sick baby through ignorance.

I'm sure you hear stories like hers all day long, but thanks for being there for people like her. She always wanted a big family, even when we were kids, and while that's not in the cards I believe she's going to be a great mom someday.

[Barack_America]

49. Yes, this is a very familiar story.

I wish them luck. They have a very good chance of only one (or neither!) being a carrier. But, even if only one is, PGD can be done to avoid embryos that carry even one copy of the mutation. It's less common to do so, because there is little risk of symptomatic disease, but it is an option. Some families just want any risk of this disease gone from their family tree.

[Blue_Tires]

51. How did I never know you were an MD?

My father was one (different specialty, though)

[Recursion]

52. Are there things you would refuse to screen for? (nt)

[liberal_at_heart]

53. I do believe that people should always have the choice to either carry a pregnancy to term or to

terminate a pregnancy. However, as a mother of autistic son I am not looking forward to the day when people can find out they are carrying an autistic child in utero. We all saw what happened to the Down Syndrome population. I'm afraid the same thing will happen to the Autistic population. I remember the fear and heartbreak I experienced when I found out my son had autism. I also remember every single joy filled day he has brought into my life since he was born.

[brendan120678]

56. As someone who was given an "abbreviated life expectancy"...

When I was born (36 years ago), and who now has one child - out of three - with a slight birth defect, I absolutely agree with you.

I love scientific breakthroughs like this, but the thought of what they could lead to sometimes gives me chills.

[Uben]

54. My daughter is facing a big decision like this

She is five months pregnant with her second child. She found out the child has HLHS, hypoplastic left heart syndrome, which leaves the left side of the heart underdeveloped. If the child makes it to term, it will have to undergo multiple surgeries and will have to have a heart transplant eventually. The pediatric cardiologist said it was a really bad deal and he didn't know of anyone who survived past their early twenties, even with the transplant. Knowing this, do you bring a child into the world who will likely spend more time in the hospital than out? Tough call, but they have to make it. They are meeting with other parents of children who have had the disease to discuss what they have to look forward to. It is heart-breaking.

[riverbendviewgal]

55. I watched the show last night

I think this is the future for the 21st century. It is very much like antibiotics and vaccine shots changed the 20th century?
This is amazing.