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Comment by butisaidsudo | Hacker News Reader

> For several years, 23andMe has worked on demonstrating that its reports are easy to understand and analytically valid...

I guess these are different reports, but I know a genetic counsellor who describes 23andMe's carrier screening tests as "the bane of their existence". Those reports seem not-so-easy to understand based on the patients she sees.

One problem is that they warn that your offspring are at high risk for some condition, when really "high risk" means 0.5% higher risk than the general population. The other is that they may say you are not a carrier for a certain condition, when they only test for one variant of it, where proper tests will test for multiple variants. They can both scare and soothe irresponsibly.

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When I signed up the sample they took was spit in a vial.

It never clicked for me that this was going to be the most scientifically accurate reading of my health in all the world. I took part because it could give me some scaring and soothing. But I assumed I'd go get a real test done if I was actually worried or interested about something specifically.

The website repeats this sentiment over and over, I learned about all kinds of interesting genetic stuff. I'm sure that's what it's for. I shouldn't be surprised that many people take what it says as gospel.

The "real" genetic test I took in doctor's office to screen for a condition worked by spitting in a bottle too. It's a reasonable way to collect DNA.

> When I signed up the sample they took was spit in a vial.

Yes, and? I don't see the significance of the testing medium here. DNA sequencing from hair or blood or saliva will yield identical results.

They're saying the testing medium itself made the test appear less scientific/accurate (to them) than it actually is. Perhaps if it had been a hair sample it would have appeared more scientific (again, to them).

Yes that's right.

Yup and in both sources, it will be multiplied first via polymerase chain reaction, and then analyzed / sequenced.

> I learned about all kinds of interesting genetic stuff

And there's much more to be found. The service of 23andme only records a limited set of SNPs. Further there is "multiomics" (see [1]), where not just the genome is sequenced but a complete biological fingerprint of metabolites is taken at different timepoints. This can e.g. give insight in onset of a disease even before any symptoms present themselves. I wonder when this will become available as a (mainstream) service, but I guess soon.

[1] https://en.wikipedia.org/wiki/Multiomics

Yah. I've got a 50% chance of having Huntington's. When my parent was first diagnosed with it, me + all siblings were immediately going to get screened. Half of us actually booked to get the test done. But we later cancelled our screenings, and we're all now rather we didn't know.

As I understand, genetic counselling in the case of HD is people telling you over and over again not to get tested. One of the constraints on fertility treatment if you're at risk is that you can't have any procedure that removes the potential baby's right to choose whether or not to be screened.

But in summary:

I've decided (having thought I definitely wanted to know) not to get tested. I'm glad there wasn't a button on 23andMe I could just click to find out. It's a complicated decision, should require some thought, and has life-changing consequences. While I'm strongly pro-choice, I also don't think 7-11 should be selling abortifacient drugs -- just because technology can make some decisions easy to execute on, doesn't mean they should be as easy as clicking a button.

I'd much rather that kind of thing be available as clicking a button personally. Getting information that could help you make big decisions is very useful.

What sort of big decisions does knowing you have Huntington's disease help you make? It's a debilitating disease with no treatment or any way to prevent it.

That... seems pretty obvious to me, does it not to you? I don't know, I for one would knock back plans I might save for retirement to much earlier in my life.

Estate planning implications, savings implications, family goals...

Hopefully at the very least even without testing to go from 50% to sure knowledge, that 50% number is enough to get people to create wills/trusts. Save your survivors a lot of trouble with just a little up-front time and cost.

I mean, all of them beyond the day-to-day?

I plan my life expecting to live to an average age, as I assume most of us do. I save for retirement, I make investments that will pay off at times useful to me.

If I knew I had a serious condition that changes my quality of life and life expectancy, that means I need to change my life plans. Sure, it may not be 100%, but working off the most likely outcome seems sensible.

Not to mention, no treatments right now - if I know I've got something, I can follow developments and if treatment does become available, I can do something. Obviously, you could monitor this if you knew you were higher-risk anyway, without testing, but not everyone knows that.

Knowing about a chronic, untreatable, future illness can help you decide whether or not to have children, and if so, whether to have them earlier than you might otherwise have planned. Likewise it can influence you to accelerate the pace of other life plans (like traveling, or setting up a nonprofit in your neighborhood) and scrap other lower-priority plans.

If you don't mind me asking, why would you prefer not to know?

If anyone else is curious I found the following link that talks about why people wouldn't want to find out. After reading this I can understand why someone wouldn't want to.

https://en.hdyo.org/eve/articles/53

Well, it's basically a death sentence for person having this condition. Event though there are some attempts by IONIS HTTRx to find a cure, currently, it's not curable. And it's hard to tell if this disease will ever be curable.

Life is a death sentence, unless someone has unlocked the key to immortality. I'm sure there are people who've lived less years than me who have still lived a fuller life than me. Randy Pausch, of Carnegie Mellon University, comes to mind:

https://www.youtube.com/watch?v=ji5_MqicxSo

Just because you're born knowing you're going to die doesn't mean we should all fret about it (unless you're a Nihlist of course, and then it doesn't matter as everything is futile). Knowing you're more likely to pass sooner would hopefully be a good thing in that you'd hopefully spend more time with your family creating memories than useless stuff like grinding at work and trying to climb corporate ladders only to become a senior middle manager in 20 years.

Personally, I would absolutely want to know to pivot my life towards reality. I'd much rather have an educated guess as to what my future might hold given the options vs sticking my head in the sand and "hopes and prayers" for the best. That being said, I can understand how it might simply be overwhelming for some people who wish to remain blissfully ignorant. Best of luck to them!

I completely understand you, because I'm in the same boat. It's hard to tell what is the right approach. I think that people should be tested. I'm still afraid to do that because I'm 31 years old and already started to experience some symptoms.

Yes, it's not easy decision but if you are not tested you can ruin life of your partner. It's better to prevent passing this terrible disease to your children.

Anyhow, 23andMe cannot tell you whether you have HD or not because they don't have sequences for that.

>One of the constraints on fertility treatment if you're at risk is that you can't have any procedure that removes the potential baby's right to choose whether or not to be screened.

Can you explain that a little more?

There are fertility treatments that include genetic testing of the fetus that would indicate Huntington's.

Have you ever worked in tech support? Seemingly simple technical information can be very mystifying to people without good critical thinking abilities.

> I know a genetic counsellor who describes 23andMe's carrier screening tests as "the bane of their existence".

Do you really think a product can be built (for a reasonable price) which ensures that your genetic counselor does not get stupid questions from the consumers of the product?

That's like saying <My friend who works in tech support describes cheap computers as "bane of their existence">.

I'm not sure how I feel on this because I see both sides. If you're a doctor, you have to spend a lot of time addressing questions that are often based on other situations/conditions or aren't accurate because they were sourced on the web. At the same time, doctors were used to not getting questioned much and being able to do whatever they want for the most part. Last time I went in due to sickness they tried to do an x-ray which I declined. Many health care providers play the billing game and that's what they know. Now they have to listen to the patient and have more dialogue. Sometimes they are questioned. It's a shift. I think it's a good thing that people are asking more questions and doing research on their own. In real estate - automated valuations like Zillow provides are the "bane of their existence". Although many times it helps them because people want to seek an agent to sell because they looked up the Zestimate. If you're a professional - handling questions and concerns shouldn't be an issue.

Can we stop with the unsubstantiated heresay? What condition, what markers, what risk calculation is used?

I recently tried to research these companies to help a friend, and theres a huge amount of innuendo out there along with a lack of detailed and up to date information.

Even the companies seem to be in the dark. One example is I asked FTDNA to explain what the advantages might be to their autosomal only testing vs AncestryDNA's autosomal testing. A "senior" person there essentially said, we have no idea how they conduct autosomal tests so we can't help you.

Off the top of my head every company I can think of goes to great lengths to know the competition, in part to be able to explain their advantages to customers.

But not so for some of these DNA companies.

To be fair, AncestryDNA's web info was so marketing messaged I didn't even bother to ask them the question.

Have you got any opinion's on FTDNA's new myOrigins? I think it might make some things harder to interpret for people without very good genealogical records.

I have very weird metabolic problems... the US medical model --- if you can't diagnose it in two or three visits-- it doesn't exist.

I actually have the 23andme kit right here-- I plan to get the genome data to submit to some other services to see if there's ANYTHING I can learn about what's going on with my body.

My doctors have basically been watching me die.

Best of luck. If you really didn't have a diagnosis after 3 visits, you probably should see another doctor. I'm just curious, what you mean by metabolic problems?

I don't want to go into my medical history here... but I'm sensitive to several common proteins and compounds. Chronically low on B*, D and Calcium. Doctors think I'm nuts. It runs in the family-- my mother and grandmother have the same problem. B vitamins seem to modulate one of the problems and not another. :)

>Those reports seem not-so-easy to understand based on the patients she sees.

Sounds like they are keeping her in business.

We have to be vigilant, lest our enemy, the good, get the upper hand over the perfect.

A little knowledge is a dangerous thing.

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