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Comment by alanfranzoni | Hacker News Reader

I have worked with people with Down syndrome in the past, and I must say they are amicable, nice, and with the proper education they can quite compensate for their condition.

That said, I don't know whether they're part of the "intended" human condition. They don't seem to hold any advantage over non-Down people, only disadvantages. If anybody is scared about similar thoughts, consider doing a non-invasive pre-natal test (NIPT) during a pregnancy; it's a test that checks the infant's DNA in mother's blood, and has a great accuracy.

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> That said, I don't know whether they're part of the "intended" human condition.

I'm not going to give my full "eugenics is a short-sighted, moronic evolutionary strategy" semi-annual rant at this time, and I want to add the HUGE caveat that I'm only talking about humans as a population of evolving animals, and not as individuals with rights, worthy of moral consideration. That's a whole different can of worms I am not prepared to open.

With that giant caveat, from the standpoint amoral evolution, Down syndrome is the non-fatal duplication of a large number of genes, which can be extremely advantageous long-term, despite short-term disadvantages. The extra copies of the duplicated genes can mutate freely to take on new functions, while one copy maintains the original form and function. Evolution is the process of variation and selection, and while everyone gets hung up on the selection end of things, the variation is also important. You want your population to support as much variation as possible, so that it can explore as much of the evolutionary search space as possible.

So from that evolutionary standpoint, Down syndrome is an "intended" part of the human condition.

just because you want down syndrome to be possible, doesn't mean that it makes sense to bring a down syndrome baby to term.

Short term/long term; local minima/global minima — of course, now we are developing gene engineering tech we don’t need to rely on natural evolution, but before that was invented, the possibility of stuff like that is the only reason we got multiple chromosomes in the first place.

Yeah, the point I'm making is not that all mutations are special and natural, which isn't particularly useful: it's that we almost certainly have mutations similar to those that cause Down syndrome in our genetic history, and ancestors who suffered comparable (although presumably different) disadvantages relative to baseline mammals/apes/humans of the day.

> which can be extremely advantageous long-term, despite short-term disadvantages

What long term are you talking about? Until you include individuals with trisomy 21 having families and passing on this trait, your line of reasoning makes no sense.

> [...]I must say they are amicable, nice, and [...]

Perpetuating a positive stereotype is ultimately no less harmful than a negative one.

People with downs are just people, sure, most are nice, but most people in general are nice, they can also exhibit the full spectrum of other human behaviors within the confines of their condition.

A friend of mine growing up had Downs, he could be nice, but he could also be angry or petty, just like the rest of us.

The pre-natal tests are routine even here in India - I'm quite surprised they're not in the US.

There are various levels of screening tests available (but not required) like ultrasounds, but the more definitive diagnostic tests (like amniocentesis) are more invasive and carry some risk to the fetus.

If you aren't sure that you'd abort the fetus if a genetic abnormality were detected, you'd probably be less likely to take a screening test that poses even a minor risk to the fetus. (of course, there are other reasons to know, like if you are considering a home birth versus hospital birth, you'd want to know if the baby will have any special needs at birth)

Screening generally doesn't affect the fetus and can help make a decision about whether or not to do a more invasive test in the absence of other risk factors. Most screening is also before the timeframe that you're able to perform something like amniocentesis. Thinking PGD (for IVF), NIPT, NT ultrasound, serum screening, other such things...

I don't know a lot of people that refuse the noninvasive prenatal screening offered by California... even if you don't act on the information you receive.

Yes, screening is non-invasive (and also is not definitive), but is optional and some people refuse even non-invasive screening because nothing will change their mind about continuing the pregnancy "for as long as god intends it".

Your quotation marks seem like you disagree. There are other reasons not to do screening, for example not be faced with the decision to abort or not to abort. Here in Germany, at least in my circles, people tend to avoid such screenings not because of religiousness.

Pre-natal tests are routine, and even free, in California. The state pays for testing that would identify Downs, including NIPT. Unfortunately, you have to do older tests first to be considered high risk and to qualify for NIPT or amniocentesis.

CA's screening program is not free. It costs $220 to participate, although insurance may cover that cost so it is free to the patient. Any followup care for people with fetuses at high risk of a birth defect is covered by the state though.

Back from when I was pregnant, I also recall that my insurer (Kaiser) would cover the cost of NIPT for anyone 35+ or in certain high-risk cases without having to go through the state. They also covered the cost of carrier testing.

edit: I thought maybe you might be thinking of newborn screening which is also very much a Thing in CA, but it turns out that is also not free - $130, also covered by most insurance. Good to have though!

Thanks for the details. Not free, but certainly routine. I’d be surprised if MediCal and other govt programs didn’t entirely cover this.

There are many pre-natal tests available. I was specifically referring to nipt, which is usually priced around $200-600, and can spot Down and other DNA issues with great accuracy.

NIPT is a relatively new test, and at least in the UK, most people haven't even heard of it. It's very rarely offered on the NHS, and only in some areas. It can be had privately for around £200 though.

This is only somewhat true. Yes, many people with Down’s syndrome can compensate with proper tools and education. But it’s a spectrum. In just one group home I worked in, the ability ranged from non-verbal in one person to another being able to hold down a basic job, carry on conversation, and distribute their own meds.

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