Genetic testing is an inexact science with real consequences | Hacker News Reader

Genetic testing is an inexact science with real consequences

vox.com

89 pointsSirLJ40 comments

The topic of how to deal with genetic information is an important one. There are many nuances about the technology itself which are distinct from how it could be used and potentially abused. This article does an awful job for this topic on so many levels:

> But it was too late to tell my grandma. She’s dead now and I’m a liar.

The personal story is over the top and this is not the definition of a liar.

>“The science across all that is probably total junk,”

--Jennifer King, director of consumer privacy at Stanford Law School’s Center for Internet and Society.

Why would you run a quote like that?

The writer in this article clearly has an agenda and the alarmist attitude taken isn't doing this issue justice.

> The personal story is over the top and this is not the definition of a liar.

Well, if you take of the programmer's literal-minded hat for a second, this is probably representative of how the author feels: that she lied to her grandma. It might be incorrect but to dismiss her feelings of guilt like that is missing the point.

How should you criticise feelings to provide the author with a more accurate perspective?

> It might be incorrect but to dismiss her feelings of guilt like that is missing the point.

Only if you think the point of the article is feelings and not the dissemination of information. This is not a personal blog about relationships, its about the science of genetics. Drawing a distinction between the two is important and blurring the line furthers the spread of bad science.

Except that this isn't an article about scientific research done in a lab resulting in peer-reviewed publications, this is about personalized genetics sold as a product to people, by appealing to people-feelings. Like how they feel about their heritage. Which makes it absolutely relevant to the topic.

I don't want to belabor a secondary point too much here. But I will add there's a big difference between feeling guilty for being wrong and feeling guilty for lying.

I agree she isn't a liar. She was lied to, by 23andMe, and that's an important difference.

I don't doubt that the company's fine print attempts to disclaim all responsibility for whatever errors they make in their calls, no matter how glaring; I'm quite confident that 23andMe could claim someone's ancestry is 97% derived from thoroughbred horses, and if pressed on the obviously nonsense result, they'd refer to their legal boilerplate and claim that the fault lay with whoever was credulous and foolish enough to presume they provide a product of merchantable quality in exchange for the fee that they charge.

What I don't see is why anyone needs to take them seriously in the attempt. And, as other commenters have pointed out, when we have companies in the same industry attempting to market genetic analysis for purposes from skin care to law enforcement, it's very much worth pausing for a moment, just to make sure that we aren't at risk of accidentally reinventing the justly discredited pseudoscience of eugenics, a century down the line.

Your comments are over the top. In re her grandma, the author was convinced by "science" but it turns out the claims made by 23 and Me were essentially a lie, in that they were given with far too much illusion of certainty.

In re the "probably total junk" comment, that's in reference to this: "companies are popping up every day, promising to use your DNA for everything from figuring out what wine or marijuana varietals your genetics predispose you to, to what skin care regimen is best for you". And the quote is spot on. There may be research pointing vaguely in those directions, but the reality is far more complex. And the chances that the actual science will appropriately inform the recommendations give to you by startup companies built around trying to make money off telling you "facts" like these based on your genome, it will absolutely and without question translate to "junk". Even if they could make correct predictions, there would be so much more money in bending the truth just a bit to satisfy advertisers and affiliates, that the end result would be junk, not science.

Quoting individuals who make blanket statements like that without providing any evidence (or possess authority on the subject of genetic testing) is doing a disservice to actual viable applications of genetic testing, especially in the health domain.

illusion of certainty

The notion of genetic ancestry is inherently fuzzy. What does the author think it means to be "Italian"? Humans didn't evolve in Italy, nobody is "from" there in a truly genetic sense.

On the other hand, some of the health information 23andme provides is significant and behavior-changing. I don't mean the "you have 5% higher risk of developing hangnails" trivia. I mean the "60% of people with your genetic factors develop deep vein thrombosis" warning - which a person I know found out, and immediately stopped taking hormonal birth control.

For me it was "no news is good news", but that's valuable information too. I consider 23andme a good service.

> Humans didn't evolve in Italy

Some of them did; some of them didn't. When did humans stop evolving?

I would add that - of all Italy - Sicily is one of the regions where historically everyone ruled (and lived) over the centuries:

Greeks

Carthaginians

Romans

Germans/Franks/Vandals

Bizantines

Arabs

French (Normans)

Germans

French again (Angevins)

Spaniards (Aragonese first and later unified Spain)

https://en.wikipedia.org/wiki/History_of_Sicily

Even Vikings (briefly) ruled it: https://en.wikipedia.org/wiki/History_of_Sicily#Viking_Age

So - from a DNA analysis - you can probably find traces in the population of practically every "race" that existed in the basin of the Mediterranean sea (including Europe, Africa and the middle East) and even part of northern Europe.

I think this article grossly misapplies the term "testing" here. The 23andMe site barely contains the word "test" and that's probably because what they do does not fit with the standards and quality of actual medical testing.

Real genetic testing has very high standards for quality and accuracy and there are strict guidelines and regulations around how information is conveyed in reporting information back to requestors.

Your distinction seems to be a "no true Scotsman" fallacy. That 23andMe's genetic testing doesn't have the same high standards of "real" genetic testing doesn't mean that they're not using genetic testing. As far as 23andMe's not using the word "test" meaning anything, there is still an implication that testing is precisely what they're doing. I just Googled "genetic testing". The third result is a link to 23andMe that they themselves have titled "23andMe: DNA Genetic Testing & Analysis". From that page are links to pages like "We're all about real science, real data and genetic insights that positively impact people's lives" and "Know your genes, own your health".

As someone married to a genetic counselor, thanks for making this distinction. There's a world of difference between 23andme and actual genetic testing.

I don't see how this kind of DNA test result is useful. It won't help you get citizenship of another country, or affect any of the cultural attributes you acquired while growing up (such as language and attitudes to science and religion). DNA has nothing to do with culture.

Are people supposed to suddenly take an interest in some place that they've previously ignored, just because they have some DNA that's commonly found in that location?

"nothing" is probably too strong

People will of course sometimes treat other people differently depending on physical attributes than can vary in different populations. E.g., skin colour or height or hair colour. But people already know what visible physical attributes they have without a DNA test.

It has been useful for me.

Recently I moved to Sweden and some Swedish girl told me she doesn't like that East Europeans come to her country and that East European women (she's probably refering to me) are seen as low class and not cherrished in Sweden.

When I got DNA test from 23andme and it says I am 80% Scandinavian despite parents were living in East Europe and that I am from the original Viking linage.

So it had positive effects on my self esteem.

People play all kinds of silly games over status, but I think this is going into dangerous territory. It's basically how WW2 started: Hitler had the idea that Germans were higher status than Eastern Europeans, and so Germany was justified in taking their land for itself.

> Are people supposed to suddenly take an interest in some place that they've previously ignored, just because they have some DNA that's commonly found in that location?

Are you American? For most Americans ancestry is an important subject (for many complex reasons), though mostly in a casual way, like sports. Which both explains why the author got upset, but also why they shouldn't have gotten upset.

In my limited experience, I suspect the same is true of many other resettled populations--Chinese diaspora in SE Asia, various Jewish communities, etc. Recording and relaying ancestry is a thing that informs their identity, for better or worse.

I thought it was common knowledge that the ancestry part of the 23andMe "project" was croud sourced and not an exact science? The "you are related to XYZ person in our database" stuff was 100% accurate, as that is coded in your genetics. But their ancestry data is based on who is related to who and what they think their ancestry is.

Directly contradicted here: https://www.23andme.com/ancestry-composition-guide/

That very long and thorough page explains the science, explains why it isn't exact, and does so in a surprisingly approachable manner. However, people seem to judge long, technical explanations as prima facie evidence for the "scientific" soundness of the product, and consider that something which is "scientific" is by definition accurate and reliable. Unhelpfully, that article buries the discussion about precision and recall at the very end. But even if they lead with it, it's perhaps too much to expect them to educate customers on statistical meaning, such as that even 95% precision means 1 out of 20 classifications will be wrong, and thus that it's entirely unsurprising for the journalist to have been misclassified as Middle Eastern.[1]

[1] Though, there's also little evidence that they were misclassified, given the population flows between parts of Italy and other areas around the Mediterranean. Just because their family members came out as all Italian does not imply that the journalist's family lacks Middle Eastern ancestry.

> Where roughly 25 percent Italian was supposed to be, Middle Eastern stood in its place. The results shocked me.

Italy is close to the Middle East on my map.

http://redd.it/77bj7a

> Middle Eastern does not refer to "Arab", but rather, is a catch-all term for Eastern Mediterranean, including the Caucasian populations, pre-Arab Levantine populations , and other West Asian populations.

> TL;DR- Ancestry that is Italian, Balkan, or Middle Eastern may utlimately come from the non-diversified pool of Sicilian/Crete/EastMed populations and may only reflect Broadly Mediterranean heritage and not ancestry from any one specific location.

> I had made a lot of the Italian portion of my heritage ... majored in Latin in college,

I cannot see how 23AndMe was lowering this person's sense of scientific legitimacy. 23AndMe didn't create this person's bizarre racial proclivities.

More than that, Sicily was a Muslim emirate for hundreds of years! The darker skin prevalent in Southern Italy is the result of that history, with the Moors conquering and occupying it for centuries.

When 23andme makes a guess about ancestry it is guessing where a set of people were at some arbitrary point in the past, otherwise everyone would simply be "Africa - 100%". This is clearly very inexact and is a novelty more than anything. And in this case enough of those Moors lived in the Middle East so it got categorized so. If anything this should be illuminating to her about notions of race and groupism (e.g. "No, I'm Italian!")

The ads play into this, of course, with the people in the ads suddenly embracing a different self-identity based upon the results. Which is just sad.

> bizarre racial proclivities.

What is that even supposed to mean?

I have never heard of "inexact science" or "exact science". Googled exact science, found all results are related to a company. The term "exact science" sounds pseudoscience.

https://en.wikipedia.org/wiki/Exact_sciences

Interesting, Google only gives me https://en.m.wikipedia.org/wiki/Exact_Sciences_%28company%29

Apparently search isn't an exact science yet ;)

It's probably a casual expression, sort of like how people use the word "theory" in a different way that science uses it.

sicilian is basically arab anyways.

Some silcilian have North African or Greek as mixture.

DNA has one interesting thing tho, a lot of people who claim to be 'pure <insert ethnicity here>' figure out that they've some admixtures of other ethnic group too

> DNA testing is an inexact science that’s prone to errors throughout almost every step of the process

This statement is correct.

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