Hacker News Reader

Comment by giuliomagnifico | Hacker News Reader

This should be a good news, because with DNA test you can find some hereditary diseases, but I’m a bit skeptical about the privacy, in particular when I read things like this: “Mass DNA Collection in the Tibet Autonomous Region from 2016–2022” https://citizenlab.ca/2022/09/mass-dna-collection-in-the-tib...

The law will absolutely have to adapt to these changes.

View on HN

This will certainly put a damper on the sperm donation market.

An individual sperm cell does not contain a full genome.

You cannot even reliably determine a donor's hair color, from a single sperm cell.

I imagine it's much more difficult to reconstruct a full genome from a sperm donation than from, say, saliva on a discarded cup.

This comment is misleading, and possibly wrong depending on what you mean by “full genome” (not an accepted technical term).

A sperm cell contains one complete haploid genome.

You're right, it's not as simple as I described.

But (my bio is rusty) a haploid genome (gamete) cannot fully represent the genome of a diploid human.

If you're looking for genetic disorders, these will often be the result of recessive traits, right? So having only half of the chromosome sets is not indicative.

That's my example of hair color. With a full genome sequence, you could determine the person's hair color, but with a haploid genome, you could not.

If OP's joke is about the privacy implications of sperm donation, then saliva seems more risky.

From what I've read, recessive genetic disorders tend to be worse, but there are plenty of dominant and polygenic disorders with * varying degrees of penetrance.

* This I think indicates some other genetic and/or environmental factors we don't have a good grasp of.

A single sperm cell can't. But you presumably have an awful lot of them in a single sample. So this seems irrelevant to the privacy concerns being discussed here.

...and that's what I said. It would be more difficult than from saliva.

Yes but in context this is completely irrelevant. The context was originally the privacy implications of donating sperm. And those are definitely real.

> a haploid genome (gamete) cannot fully represent the genome of a diploid human

Correct; my broader point was that when most people refer to a "human genome" it is ambiguous whether they mean diploid or haploid unless specified. Metrics like "3 billion base pairs" etc. actually describe the haploid human genome.

> If you're looking for genetic disorders, these will often be the result of recessive traits, right? So having only half of the chromosome sets is not indicative.

Often, but not always; there are myriad autosomal dominant disorders, as well as sex-linked disorders which require only a single mutant allele on X

> If OP's joke is about the privacy implications of sperm donation, then saliva seems more risky.

Here I think both with STR and SNP profiling you are equally at risk (i.e., saliva is not more risky)

As you're probably aware, most people who donate sperm opt for more than a single cell...

Right. Hence "more difficult" than from saliva.

Think about it. Each sperm cell gets a random mix of your chromosome sets. There are 2^23 possibilities.

But of course you only need to find the matched pair for each chromosome. So you'd only need a few hundred cells.

I'm not a geneticist, but that sounds like a much harder genome sequencing/assembly problem than the fully matched set you'd get from saliva etc.

I have an honest question: what are the specific negative consequences you, personally, are worried about if your genome, today, was made completely public?

For example an insurance company can rise the price of your contract if they know that you are genetically predisposed for some diseases.

I'm asking at a personal level, because in the US this genetic discrimination is against federal law, and I (personally) have 0 fear that an insurance company will seek out and use this information to illegally discriminate against me.

Are you worried that companies will not respect this law? Or are you not US based.

It's illegal but companies will figure out a way to work around it. Why can't they just require your authorization as part of getting insurance? You might notice lots of services require you to give up certain privacy rights. I don't want the phone company to sell my location data, I don't want apps on my phone to sell my location data. There are all these tenuous yet successful ways where your right to opt out is overcome. I'm happy to click in boxes in apps, I've done it lots of times, I turn off location history when possible. But because I carry a phone I believe it's certain that some apps somewhere are storing my location. Same for having a recent car with a data modem in it. And then there are license plate readers. I want to disallow all of these things, but the battle is basically lots as far as I can tell.

That just means the laws don't have teeth. Often if they do, they straight out say it's illegal to even get 'authorization' or anything approaching it. It would be a straight out ban vs. an "ok with consent" which is what authorization is about.

You can't sign a contract to sign yourself into slavery, it's just straight out illegal. And thus you don't see anybody being signed into slavery via contract in the USA, and there many other things that act this way in law.

> It's illegal but companies will figure out a way to work around it. Why can't they just require your authorization as part of getting insurance?

Because it is highly regulated, with no known examples of insurance companies and regulators colluding to incorporate health data for pricing purposes.

https://www.healthcare.gov/how-plans-set-your-premiums

For example, you can even figure out your health insurance premium in the state of NJ just based on this pdf:

https://www.state.nj.us/dobi/division_insurance/ihcseh/ihcra...

In the US, a health insurance company cannot price premiums based on health or any pre existing conditions.

https://www.healthcare.gov/how-plans-set-your-premiums

> FYI Your health, medical history, or gender can’t affect your premium.

However, life insurance, long term disability insurance, and I presume other types of insurance are free to use health data for pricing. Of course, if genetic data was known to be worth it for predicting probability of death or disability by a certain age, those insurance companies would already be requiring applicants to provide genetic data.

The thing is it's not much data in absolute terms, but it's not going to change for over human timescales and tells you something about your entire family, going back generations in the past and many in the future. On the other hand, look at GWAS studies, if you have many people and know if they get a disease or not, you can narrow down exactly what parts of the genome are implicated in the disease, and start designing drugs for it. It's hard work and doesn't always work, but it allows us to go from high level disease phenotype -> exact mechanistic problems

Yeah and I'm digging into this because I personally would much prefer that these GWAS studies have access to my genome and medical data, so they can design drugs for whatever my specific genotype is. I think it's far more likely that this will benefit me and my children, than hurt me.

I'm not telling other people they are wrong to be afraid, but I want to understand the exact mechanism of those fears.

If you're interested and a US citizen, look into the All of Us program by NIH. They're going to sequence a million people's genome (!!) and allow researchers to use it. And they're doing it in a very careful safe way. It will mean many researchers will have your deanonymized genome (and it's up for debate if it's possible to truly future-proof deanonymize a genome) but it's not sketchy at all and will be a huge help for future generations IMO.

And if you're in another country, especially european ones, look into other research programs, there are lots round

Why drugs? These GWAS studies should be looking at nutrition.

I guess I agree on principle and diet is understated. But let's say, as has happened recently, you're looking at Alzheimer's or lewey body syndrome and you find the gwas returns a lot of results for a certain cellular pathway (like a stress response or where a cell breaks down misfolded proteins, leading to plaques). You can look for small molecule drug which targets that, or try a fancier treatment to target that exact protein. But how would that insight extend to diet?

Beyond just eating more health (in whatever way) and exercising more, which does go a long way. Thse drugs are trying to be extremely targeted and intricate in now they work

Alzheimer’s, for example, is most likely being caused by a metabolic problem. This will be solved with nutrition. I even believe it can be limited if the correct nutrition (enzymatic cofactors) are discovered.

For example https://fjfsdata01prod.blob.core.windows.net/articles/files/...

Would you want a dating App telling your potential match all of your negative genetic predispositions ? How about your employer ? Or your parents, would they have raised you differently if they had unnecessary paranoia about a predisposition that you would never manifest.

Human nature values first impressions and you can expose your flaws after you have established your reputation a bit. This data has the potential to short-circuit that and could lead to yet another technology that is maladapted to human nature.

during extreme wartime or societal setback, we often see society look for scapegoats. the outgroups created in living memory have been based on social standing but also ancestry and things tightly related to the genome.

if/when the time comes of a meaningful societal regression like this, i want it to not be so easy to drag me into it. it’s precautionary.

Reply on news.ycombinator.com