23andMe Concerns + Full Clinical Genome Sequencing Cheap

I know a group of you have been working on the statistical analysis to figure out where our dna was altered. If 23andme isn’t even near to a full sequence, how can we actually do any meaningful work with our dna?

Our mutation could’ve happened in an unsequenced part of our dna.

That is my main question.

Another bit of information is that Dante labs is offering clinical grade sequencing for $189 right now. They’re a European company operating around the world. The test is 30x pass which means it’s clinically accurate. You can download your raw dna.

I would love to buy it while it’s on sale for the holidays, but the privacy and security concerns scare me.

Companies like Nebula have a great concept, but currently only do .4x which is very inaccurate.

If we can break through and find the gene edited, Crispr will at the very least be able to correct the mutation.

The government and big pharma will have big red tape on this. We need to find the gene and cure ourselves. Crispr is actually fairly simple science. Kits are available online for under $200 to do experiments with. We, in my opinion, should all become knowledgeable on this now.

If we don’t we may never see a cure. If big pharma makes the cure the drug will cost millions of dollars.

Crispr is cheap. If this is genetic, there’s a very high probably we can fix dna mutations.

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Yours is a very good question. The whole genome sequencing business is a rapidly moving target. To analyze our data, we don’t only need patient but also reference genomes (lots of them). These currently are not abundantly available for full genome providers to the extent 23andMe is. The other issue is noise. 23andMe are carefully curated snp sets which are known to be of interests in various disease contexts. Already looking at this focused data is challenging enough for us as a patient organisation. Remember, we’re not GWAS experts here. When extending this scope to full genome, the level and complexity of analysis required would be way beyond what we could realistically take a stab at. Nevertheless, we share your concern and also recognize our limitations. Thus we are trying to establish contact with scientists specialized in GWAS for collaborating on this project. This of course will require funding, so we’ll have to see if we can get the required money together.

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I’m continually fascinated by the following article, which says that scientists found a gene specific to erectile function.

At the Kaiser Permanente Division of Research in northern California, a group of scientists have identified a genetic switch which is thought to be unique to sexual function. They believe that this switch plays a crucial role in controlling the brain signals which initiate an erection, and new genome editing technologies such as Crispr-Cas9 could one day allow scientists to reactivate this switch in patients.

“This genetic location is part of a pathway which is involved in a number of different systems in the body, from pigmentation to weight to sexual function,” explains project leader Eric Jorgenson. “But what is exciting about this, is that it seems to be very specific to sexual function, which would make it possible to target this location and not disturb anything else in the body. But there’s a long way to get there. We need to understand the exact part of the brain where this switch is active, and then try targeting it in mice.”

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Some more reading:

Think of a gene like a light bulb, Jorgenson said: The promoter is like a light switch, and an enhancer acts like the fuse box. Because the erectile dysfunction risk locus showed enhancer activity and interacted with the SIM1 promoter, the erectile dysfunction risk locus likely influences the expression of the SIM1 gene, turning it on and off when needed, the study suggests.

The study highlights the potential of SIM1 as a target for the development of new treatments for erectile dysfunction, which are needed because about half of all men who try currently available pharmaceutical treatments for erectile dysfunction don’t respond to them.

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This appears to be the underlying research that Kaiser Permanente have done:

https://www.ncbi.nlm.nih.gov/pubmed/30297428

Genetic variation in the SIM1 locus is associated with erectile dysfunction …

Because the variants associated with erectile dysfunction are not associated with differences in BMI, our findings suggest a mechanism that is specific to sexual function.

@awor Does the 23AndMe test provide any results or data on the “SIM1” gene? I don’t know enough about the science.

This is more specifically what they’re talking about:

The newly identified risk factor is a single-nucleotide polymorphism (SNP) on chromosome 6. Having a thymine (T) nucleotide at this position increases the risk of erectile dysfunction by around 25 percent, the researchers found, after taking into account other risk factors for the disorder.

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@pete, 23andMe does report an snp within an intron of the SIM1 gene, but not the snp discussed in the Kaiser study. One snp may be indicative of another when they are in that close of proximity, however.

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Thank you for clarifying. I may take the dante test because it’s of clinical strength and could help us start to compile data points.

We should be zeroed in on finding the gene. Then, we could hopefully make merck pay for the cure.

I read an article that one company produced a dna sequencing machine for $50,000.

In my opinion, we should incorporate as a 501c3 and conduct the science ourselves. The foundation is great, but we are reaching a point in time where we can begin to take the work into our own hands.

I’d happily donate for the machine. If we track and record our expenses, we might one day be able to make merck pay.

I have a goal, cure myself in 5 years.

Public Research institutions have already successfully grown and attached fully functional penis’s on bunny’s. They’ve also successfully grown human pensis’s as of 2017. I personally want a cure or I want out. We can’t make progress if we are risk adverse.

I could care less what the fda thinks. They are also responsible for this situation.

I appreciate your dedication and hard work. If there’s anyway I could help move the ball please let me know.

I attend a large public research university.

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Do you have any steps on how I could look it up in my 23AndMe raw data? Am curious if I can infer anything from the results.

Uhh, save me the embarrassment of it just being Ctrl + F for SIM1. I’ll try that later then come back.

dbSNP can be searched by gene name.

https://www.ncbi.nlm.nih.gov/snp/?term=sim1[Gene%20Name]

Then you can do a text search for the snps in your 23andMe file.