The Overlooked Potential of African DNA | Hacker News Reader

The Overlooked Potential of African DNA

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39 pointssethbannon18 comments

All sounded good until the part about only collecting samples in Nigeria.

All the world has less genetic variation, than that between any two populations in Africa. Sampling one African population is a start, in that it nearly doubles the DNA sample space for study. But it won't help all of Africa - just the one population sampled.

> Sampling one African population is a start,

Nigeria has numerous ethnic groups present in it; but yes, I hope they range further afield as well.

According to the article, Nigeria has about 500 distinct ethnic groups.

And I guess the biggest problem is not so much getting samples for the DNA, but rather to link it to phenotype data. And that will be highly country-specific.

> All the world has less genetic variation, than that between any two populations in Africa.

I guess this is just a flight of poesy, but it seems like a literally impossible statement.

I think it's possible if it's actually "All _the rest of_ the world has less genetic variation, than that between any two populations in Africa."

I don't know if that's true, but it's true that Africans have more genetic variation than anyone else on Earth.

http://www.nbcnews.com/id/30502963/ns/technology_and_science...

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067985/

> most genetic variation in non-African populations is a subset of the variation found in African populations

https://www.ashg.org/education/pdf/geneticvariation.pdf

> Larger Genetic Differences Within Africans Than Between Africans and Eurasians

https://www.genetics.org/content/161/1/269

We can thank the ubiquitous Mercator projection for us having no idea how big Africa actually is.

https://blogs.scientificamerican.com/observations/africa-is-...

World map of human migrations on a Dymaxion projection (no visible distortion of landmass size/shape.)

https://en.wikipedia.org/wiki/File:World_map_of_prehistoric_...

My issue wasn't with the size of Africa (though I have seen that visualisation before, and find it startling as intended), but with the fact that Africa, huge as it is, is part of the world, so that its genetic diversity is part of the world's.

Yes, its wording is not quite right.

In particular, the assertion I knew from working in human genomics was that, if one were to choose two distinct populations A and B, with the greatest diversity between the populations available on the planet, then both A and B would occur in Africa.

54Gene investor here. While the team is starting in Nigeria, they absolutely plan to expand to the whole of Africa. The logistics, regulations, and cultural norms differ country by country in Africa, so it's easiest to start in a single country (Nigeria) and expand from there.

I find this very interesting. I wanted to ask how you invested and if that was still possible for others? Was it private investing?

"than that between any two populations in Africa" : i think you've worded that incorrectly, and please correct me if i misunderstand.

I thought the correct assertion was that there is greater diversity in Africa itself than occurs in the world outside Africa.

What you wrote could be fooled by choosing two very proximal populations within Africa, thereby failing to take advantage of that diversity.

In the US, would genetic information like the kind collected here be covered by HIPAA? Are there any similar laws/regulations/protections in place for Africans? Is there something unique about those protections (or lack therof) when it comes to Nigeria, where 54gene is operating? I'm skeptical.

I've had pretty heated arguments over this with an old friend of mine from one of the big US companies. They argue forcefully that DNA information is not medical data and HIPAA does not apply to them at all. I don't agree with their claim, and believe HIPAA should apply, but it seems the US regulators are going along with them for now.

They may be technically correct for their company and applications. Height and weight are medical data but a leak of that from non-medical contexts wouldn't be a HIPAA breach. Your doctor exposing it in a data breach would be in deep shit.

Henrietta Lacks at scale.

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

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

Are they selling access to the DNA biobank or are they generating sequencing data and selling access to the data? If you guys are generating sequencing data, how are you guys doing it? I would assume you guys are actually sequencing the DNA and not using a microarray? It would seem kind of pointless to use a microarray designed for the current eurocentric data on these samples. What coverage are you sequencing these samples at?

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