GP probably meant for completely healthy people who are the target audience for doing these .
Also the cancer drugs like PARP inhibitors seem to be helping everyone regardless of mutation status in clinical trials. So the connection is much less clear.
There are many cancer drugs that target mutations in specific proteins. Just what treatment will be given for a cancer often depends on what's been mutated.
> Just what treatment will be given for a cancer often depends on what's been mutated.
What I was saying was that those drugs have been proving effective regardless of mutation status. So mutation x = give drug Y connection is not really well understood.
Example, olaprib for Prostate cancer
> the addition of olaparib was associated with a significantly prolonged radiographic PFS irrespective of HRR status
> What I was saying was that those drugs have been proving effective regardless of mutation status.
I don't believe this is the case in general. Indeed, all cancer drugs fail sometimes, and there has to be something different about the cancers they fail on. If not the mutation status, then what?
I am not quite sure how to respond to 'I don't believe' response.
Even FDA is approving these mutation targeting drugs without mutation status. Niraparib was approved for Ovarian Cancer even if you don't have HRD mutations. Approval was based on NOVA trial, you can lookup the details.
I am not saying there isn't any connection, what I am saying is it not really well understood or clearcut as mutation x = drug y that general public believes about these drugs.
Rare disease diagnosis, newborn screening, molecularly targeted cancer therapies…
We’re starting to get some good utility from sequencing. Currently whole exome is more informative than whole genome. But, there are definitely some good clinical uses!
My daughter has a rare genetic disorder, cardiofaciocutaneous syndrome (CFC), and it was not until 2 years in that we were able to get a diagnosis after a whole gene sequence. It was game-changing to get the diagnosis, because it connected a to a community and to doctors who could help.
This is the biggest misconception. I have literally reverse my hyperlipidemia, hypertension, and been able to get off all of my meds for my schizoaffective Bipolar Disorder because of what I have learned from my genetics and changing my diet/lifestyle to suit what my body needs.
Just because doctors do not know what to do with it (they are decades behind most research) it does not mean you cannot learn about this and take action on your own.
Just knowing my FADS1, FADS2 genetics was enough to change my diet to seafood only and raise my HDL from a consistent 35 to over 55 in three weeks. Doctors put me on a statin which lowered my HDL to 25.
It was not only those genes, but omega 3 is crucial for what’s called reverse cholesterol transport. So I’m sure it might help anyone, I just need more help.
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.
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.
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)
I have an honest question: what are the specific negative consequences you, personally, are worried about if your genome, today, was made completely public?
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.
> 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
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.
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.
My father died of pancreatic cancer this week after getting a diagnosis 36 days prior. Since then I've been on a minor crusade to find methods of making sure I have a better diagnosis of anything similar.
Full body MRI can be had for ~$2k. I can imagine going in and getting a genome sequencing and an MRI scan done, and then over the years having a much better idea of the changes going on in your body as you age, along with an evolving map of what to look out for.
It's exiting, and yet I'm worried about handing over information that could be used against me by corporations, the government or insurance companies.
Medical tourism and paying in cash wherever is convenient/inexpensive might also be an option to consider - there are a lot of places that will be cheaper than Europe.
My own father is a physican and very against any elective exams himself. His reasoning is that his colleagues are excessively interventive so the less medicine, the better. I wish your own father had been diagnosed in time but I can see the downside in doing too many exams as well. Doctors won't be able to keep their hands off treating any little lump they find, even if it's to your detriment.
Case in point, surgery for back pain causes said pains to worsen at about the same rate as it improves them.
What you do when you find something out is still a choice. If that backpain isn't getting in the way of most of your lifestyle then the risks of a surgery aren't justified. A lump in the pancreas well I think most of us would be better served by finding that out earlier than later.
The concept of being a “previvor” I first came across in The Gene is worrying to me as well — finding you have a correlated but not actionable association with a disease or other poor medical outcome. I think the “just say no” underplays the challenges that can come from unactionable information.
That partly comes from the liability / malpractice system of the USA. They are induced to jump on everything so they don't get sued by malpractice lawsuits. The amount of detrimental behavior in medical system driven by this stuff is extremely saddening and if you know doctors, how much they think / worry about this stuff is so fucking annoying and sad.
I agree, often having more information is worse because you notice things and over react to things that would otherwise go unnoticed and fix them self.
I noticed this first when tracking sleep data, but it can also be applied to many other areas were humans try fix small problems but tend to make things worse.
My wife is a physician and this is a contentious issue. Virtually any full scan will turn up things that seem like a cause for concern when you're fine. The risk of false positives is fairly high when testing is nonspecific/un-targeted. This results in real stress, difficult decisions, and often times worse care.
It's tricky. At a population scale it looks more and more like early detection for many things causes more harm than good. On the other hand, if you're the person who could have had a better outcome with early detection it's hard to argue that point.
If you are hunting for a gross change, sure, go get scanned. For example, a calcium scan is generally a good thing--learning that your arteries are 50%+ blocked will save your life.
However, the kind of detail you require to catch something small, early requires an MRI--generally with a contrast dye. Unfortunately, Gadolinium, for example, seems to bioaccumulate. So, just like X-Rays, how many MRI's do you need to get over your life before the MRI is more problematic than the thing you are looking for?
And this is before you start getting into what emotional toll that "spotting something" will have on the patient. A friend of mine had "something" on her mammogram and the anxiety combined with high-blood pressure spike that induced until the biopsy came back negative could very well have given her a stroke.
The worst part is that people want to do all this "medical" stuff when there are much better low-hanging fruits: eat better, exercise, sleep, get vaccinated (viruses cause more damage than you think), etc.
i am sorry for your loss. That must be such a shock to everyone in your family.
We are getting HRR genome testing done for my father this week for his prostate cancer. Some of the PARP inhibitors seem to have decent success in prostate cancer.
Sorry man, my father died of pancreatic cancer as well. I have found two homozygous SNPs in my ABO gene (rs505922, rs657152) that are linked to Pancreatic Cancer. ABO needs manganese as a cofactor so I eat a lot of mussels.
They gave my father one year if he went on Chemo and the chemo killed him in there weeks.
Check out these links about the ABO gene and Manganese in pancreatic cancer.
I suffer from a lot of genetic stuff that I have fixed understanding my genetics. That is more valuable than any harm that could be done with my genetics.
My condolences. My wife has lost both her mother and brother in similar "bolt from the blue" fashion. It's hard.
But, before you conclude that you want to try whole body MRI as your response, I recommend you read this: https://cancerimagingjournal.biomedcentral.com/articles/10.1.... It's heavy going if your're not au fait with statistics, but important. The potential for more harm than good is quite real.
Sorry to hear about your father. That is difficult, particularly on such a short timeline.
Though many of the other comments here are focused on the negative consequences of doing full body scans, I believe they are thinking about full body MRI and other tests using only today's technology.
They are correct, we can't or maybe I should say probably shouldn't give a doctor a full MRI and say "what do you see that might need to be addressed", however, we should be able to train an AI to say "look at this scan, is there anything that you would recommend the doctor take a closer look at".
This should probably be done in conjunction with blood work, and maybe even genetic testing, etc.
A doctor looking for something wrong has a TON of things to look at, and interactions between them, what other patients have had issues recently that might lead them in one direction or another due to their experience.
An AI can likely be trained to take a less biased, or perhaps more appropriately biased look at significantly more data than a person, and make recommendations to the expert doctor of what the AI suggests would be beneficial to look at.
Also had the death of a relative from pancreatic cancer, 10 days between diagnosis and death. Apparently it is extremely aggressive, and unless you are extremely lucky with the timing, catching it 'early' just isn't going to help unless you're scanning yourself twice a month.
The second identifiable person to have his genome sequenced- James Watson- had around 30 known genome defects at the time. However most of them did not manifest as disease. That is a mystery.
SNP changes in genes are not usually mutations that cause "defects". Most usually they increase or decrease risk for a disorder based on more of a polygenic profile.
Can someone recommend where one can order a full genetic sequence currently in the US and get the raw data ? It seemed highly-regulated when I last checked and required it be order through your doctor. The article touches on this a bit how the price gets into the thousands due to markups and counseling.
Also how many full sequences would I have to get before the data is statistically sound. Since there is likely a base pair or two that will be different between the cells (maybe) and the sequencer hardware and process will likely have errors too. My gut tells me 10 to 20 but perhaps that seems like overkill since many base-pairs might be junk/repeats/irrelevant anyway and the raw data will have some confidence indication as well IIRC.
There are a number of companies that will do 30x WGS and give you the BAM file. I believe Nebula is one of them, but know there are other names out there.
Nebula most likely ship your samples to China for processing and sequencing because it's so much cheaper. While that might not be a deal breaker for some, I would personally prefer my sample not be shipped elsewhere.
Stay away from Nebula. I had such a hassle with them and after six months of complaining with mostly no response I had to threaten then with a civil suit and they finally replied "your sample was no good, here is your money back."
I asked this same question not long ago and the CEO of a well known company in this same research area reached out and recommended Veritas Genomics https://veritasgenetics.com/mygenome/
I’ve yet to finish the order process but I share this here because in my research of companies providing full sequencing services I never came across them and yet they seem far more reputable than others. Current SEO for these services turns up a lot of sketchy companies.
You can remove the disabled-btn class and you'll be able to click it. The basic price is $999 and the premium price is 403'ed. A bit pricey for hobby research purposes and it isn't even clear if they are accepting orders. Why is this industry such a mess at the consumer level?
It's not common knowledge, but there's an algorithm called "genomic imputation"
It can take incomplete data, like the kind you get from 23andMe, etc, and magically "fill in the gaps" to compute the majority of the rest of your genome
There used to be a free service https://impute.me that would do this for you
*To produce the raw data, and does not include analysis
It's likely the bill for a consultant (senior doctor) to examine a patient, order a test then read and sign off on a report is already more than the chemistry + cpu + analysis already.
It's good news but it's not as great as many people used to think.
Having a particular gene doesn't mean that it's actually turned on. Your heart and your hair cells have the exact same genome, but do vastly different things.
I am not excited as I used to be about the promise of cheap genome sequencing by itself. It needs to be paired with lots of other data for it to have any use, except for determining phylogeny/ancestry.
Even more exciting than this would be cheap DNA synthesis, allowing us to build and test complicated genetic circuits in fewer steps. The current methods usually rely on stitching together existing sequences, rather than creating what you need from scratch.
The price of DNA sequencing has fallen much faster than the price of DNA synthesis. Here is a comparison of the cost of DNA sequencing vs synthesis: http://www.synthesis.cc/synthesis/2016/03/on_dna_and_transis.... It would be good to find more recent data though.
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[ 3.4 ms ] story [ 155 ms ] threadAlso the cancer drugs like PARP inhibitors seem to be helping everyone regardless of mutation status in clinical trials. So the connection is much less clear.
What I was saying was that those drugs have been proving effective regardless of mutation status. So mutation x = give drug Y connection is not really well understood.
Example, olaprib for Prostate cancer
> the addition of olaparib was associated with a significantly prolonged radiographic PFS irrespective of HRR status
https://www.practiceupdate.com/content/asco-gu-2022-propel-s...
I don't believe this is the case in general. Indeed, all cancer drugs fail sometimes, and there has to be something different about the cancers they fail on. If not the mutation status, then what?
Even FDA is approving these mutation targeting drugs without mutation status. Niraparib was approved for Ovarian Cancer even if you don't have HRD mutations. Approval was based on NOVA trial, you can lookup the details.
I am not saying there isn't any connection, what I am saying is it not really well understood or clearcut as mutation x = drug y that general public believes about these drugs.
We’re starting to get some good utility from sequencing. Currently whole exome is more informative than whole genome. But, there are definitely some good clinical uses!
https://rarediseases.info.nih.gov/diseases/9146/cardiofacioc...
Just because doctors do not know what to do with it (they are decades behind most research) it does not mean you cannot learn about this and take action on your own.
Just knowing my FADS1, FADS2 genetics was enough to change my diet to seafood only and raise my HDL from a consistent 35 to over 55 in three weeks. Doctors put me on a statin which lowered my HDL to 25.
Seafood helps everyone with HDL. Is 35 -> 55 not possible with those genes that you mentioned ?
https://pubmed.ncbi.nlm.nih.gov/28984832/
The law will absolutely have to adapt to these changes.
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.
A sperm cell contains one complete haploid genome.
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.
* This I think indicates some other genetic and/or environmental factors we don't have a good grasp of.
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)
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.
Are you worried that companies will not respect this law? Or are you not US based.
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.
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...
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.
I'm not telling other people they are wrong to be afraid, but I want to understand the exact mechanism of those fears.
And if you're in another country, especially european ones, look into other research programs, there are lots round
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
For example https://fjfsdata01prod.blob.core.windows.net/articles/files/...
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.
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.
Full body MRI can be had for ~$2k. I can imagine going in and getting a genome sequencing and an MRI scan done, and then over the years having a much better idea of the changes going on in your body as you age, along with an evolving map of what to look out for.
It's exiting, and yet I'm worried about handing over information that could be used against me by corporations, the government or insurance companies.
I know there are efforts like Galleri [1] to detect cancer early using liquid biopsy [2] but I don’t know how effective they are at the moment.
[1]: https://www.galleri.com/
[2]: https://en.wikipedia.org/wiki/Liquid_biopsy
My own father is a physican and very against any elective exams himself. His reasoning is that his colleagues are excessively interventive so the less medicine, the better. I wish your own father had been diagnosed in time but I can see the downside in doing too many exams as well. Doctors won't be able to keep their hands off treating any little lump they find, even if it's to your detriment.
Case in point, surgery for back pain causes said pains to worsen at about the same rate as it improves them.
Of course, with tests that are of themselves dangerous, that's another issue. Skip those if the risk/reward is too high.
Getting diagnosed too late is much worse than having to say no.
I noticed this first when tracking sleep data, but it can also be applied to many other areas were humans try fix small problems but tend to make things worse.
I still think there are probably big obvious things that need to be caught early.
However, the kind of detail you require to catch something small, early requires an MRI--generally with a contrast dye. Unfortunately, Gadolinium, for example, seems to bioaccumulate. So, just like X-Rays, how many MRI's do you need to get over your life before the MRI is more problematic than the thing you are looking for?
And this is before you start getting into what emotional toll that "spotting something" will have on the patient. A friend of mine had "something" on her mammogram and the anxiety combined with high-blood pressure spike that induced until the biopsy came back negative could very well have given her a stroke.
The worst part is that people want to do all this "medical" stuff when there are much better low-hanging fruits: eat better, exercise, sleep, get vaccinated (viruses cause more damage than you think), etc.
We are getting HRR genome testing done for my father this week for his prostate cancer. Some of the PARP inhibitors seem to have decent success in prostate cancer.
They gave my father one year if he went on Chemo and the chemo killed him in there weeks.
Check out these links about the ABO gene and Manganese in pancreatic cancer.
https://pubmed.ncbi.nlm.nih.gov/12649190/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2657095/
https://pubmed.ncbi.nlm.nih.gov/12700280/
I suffer from a lot of genetic stuff that I have fixed understanding my genetics. That is more valuable than any harm that could be done with my genetics.
But, before you conclude that you want to try whole body MRI as your response, I recommend you read this: https://cancerimagingjournal.biomedcentral.com/articles/10.1.... It's heavy going if your're not au fait with statistics, but important. The potential for more harm than good is quite real.
Though many of the other comments here are focused on the negative consequences of doing full body scans, I believe they are thinking about full body MRI and other tests using only today's technology.
They are correct, we can't or maybe I should say probably shouldn't give a doctor a full MRI and say "what do you see that might need to be addressed", however, we should be able to train an AI to say "look at this scan, is there anything that you would recommend the doctor take a closer look at".
This should probably be done in conjunction with blood work, and maybe even genetic testing, etc.
A doctor looking for something wrong has a TON of things to look at, and interactions between them, what other patients have had issues recently that might lead them in one direction or another due to their experience.
An AI can likely be trained to take a less biased, or perhaps more appropriately biased look at significantly more data than a person, and make recommendations to the expert doctor of what the AI suggests would be beneficial to look at.
Here is the archive of the wired article, btw: https://web.archive.org/web/20221001173347/https://www.wired...
Also how many full sequences would I have to get before the data is statistically sound. Since there is likely a base pair or two that will be different between the cells (maybe) and the sequencer hardware and process will likely have errors too. My gut tells me 10 to 20 but perhaps that seems like overkill since many base-pairs might be junk/repeats/irrelevant anyway and the raw data will have some confidence indication as well IIRC.
There are a number of companies that will do 30x WGS and give you the BAM file. I believe Nebula is one of them, but know there are other names out there.
I’ve yet to finish the order process but I share this here because in my research of companies providing full sequencing services I never came across them and yet they seem far more reputable than others. Current SEO for these services turns up a lot of sketchy companies.
It can take incomplete data, like the kind you get from 23andMe, etc, and magically "fill in the gaps" to compute the majority of the rest of your genome
There used to be a free service https://impute.me that would do this for you
https://twitter.com/lassefolkersen/status/154763708634953728...
Search Google Scholar for "Lasse Folkersen", he is active in the field and has a lot of great papers about this
*To produce the raw data, and does not include analysis
It's likely the bill for a consultant (senior doctor) to examine a patient, order a test then read and sign off on a report is already more than the chemistry + cpu + analysis already.
Having a particular gene doesn't mean that it's actually turned on. Your heart and your hair cells have the exact same genome, but do vastly different things.
I am not excited as I used to be about the promise of cheap genome sequencing by itself. It needs to be paired with lots of other data for it to have any use, except for determining phylogeny/ancestry.
Even more exciting than this would be cheap DNA synthesis, allowing us to build and test complicated genetic circuits in fewer steps. The current methods usually rely on stitching together existing sequences, rather than creating what you need from scratch.
The price of DNA sequencing has fallen much faster than the price of DNA synthesis. Here is a comparison of the cost of DNA sequencing vs synthesis: http://www.synthesis.cc/synthesis/2016/03/on_dna_and_transis.... It would be good to find more recent data though.