Options for genetic testing

In a somewhat dispiriting update, it seems genetic testing for my daughter would take about a year in the Australian public system. I'm sure they do it much more quickly for sick youngsters and to check for life-threatening and life-shortening conditions, but still, I can't imagine waiting a year to find out such important information.

Australian patients can ask their doctor to order the testing with a US company or laboratory, which would take only a month or two, but that testing won't usually be recognised here, no matter how reputable or famous the facility. The exception is special arrangements for tests that cannot be done here. Also the doctor might not want to do it because of the time and hassle of organising it, which they probably can't bill for.

It also seems Australian patients might be able to pay to have testing done privately here, which would be recognised, but the word is that it is exorbitantly expensive. Nobody publishes any costs so that remains to be confirmed.
 
Ken Turnbull said:
In a somewhat dispiriting update, it seems genetic testing for my daughter would take about a year in the Australian public system. I'm sure they do it much more quickly for sick youngsters and to check for life-threatening and life-shortening conditions, but still, I can't imagine waiting a year to find out such important information.
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Much the same in the UK. A family member had an appointment with a geneticist two years ago and my family member gave them a relevant gene from our sequencing data. Only now, after a recent follow up appointment with another disease specific geneticist have they said they will probably test for that gene in a disease specific gene panel. Could take a year. But even then they said they didn't think my family member had the disease.

Try telling Muggles this is how the system works. You can't make this up.
 
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Is there any reliable company in the world where I could get my complete list of genes? I would love to know what comes up for me. Does anyone know where I could get it done and is it expensive? Thanks.
 
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I used Nebula Genomics 30x testing a few years ago and was pleased with their service. They are currently $500 for 30x sequencing, but it seems to order they take you to a completely different website now so I'm not sure who takes your money and services your request. The website looks like it's 2005 again.... not very reassuring.

More recently I also used Dante Labs. Despite sending the spit sample they never sent data, a report, or a refund. Avoid them like the plague. Here are some reviews. The bad reports appear year after year, especially regarding their non existing customer service.
https://www.trustpilot.com/review/www.dantelabs.com

Some companies offers services to run reports to look for certain traits or diseases once you have your data. To be honest, interpreting the data is the most difficult part, even for geneticists. Reports can get quite expensive.To be honest interpreting the data takes a lot of time, learning, and is quite difficult. You have to be willing to undertake the graft unless something obvious turns up like being homozygous to a variant that is know to cause a genetic disease. And in many of those obvious cases, the diseases appear early in life.

A person with ME created a free tool called Genvue/Genetic Genie that's been available for many years, and is updated now and again. It is a pretty powerful tool for looking for variants that could be relevant in your data as it checks the latest reference databases and knows about common false reads.
https://genvue.geneticgenie.org/

There are some existing threads here about testing and also on PR if you search there.
https://www.s4me.info/threads/options-for-genetic-testing.12966/
 
Before you spend the money, maybe think about what you're going to be able to do with the information? There'll just be vast amounts of letters and numbers in a file. That's assuming you can open the file in the first place, I'm not sure what format they come in.

There are companies and software that can run analyses for you, but will the results mean anything? Most disease associations don't follow a Mendelian inheritance pattern, where if you have the genetic change you will get the disease.

This means the results can't tell you anything about your current or future health. Yes, there are some genetic associations with disease, but they're really complex. Many are incompletely understood or not known at all. Even having a known genetic susceptibility to something doesn't mean you will get it—and not having a susceptibility doesn't mean that you won't. Genetics mostly isn't the whole story.

For instance, according to the company that did her genetic screening, my second cousin doesn't have flaming red hair. Neither of her copies of the MC1R gene have the change. Yet she does have red hair, which means there must be more than one way of getting it but no one's quite sure what it is. It's a trite example, but it shows you that even where the inheritance of a trait has been known for many years it still isn't that simple.

Also, how would you feel about handing the most personal data you have—not only about you, but about your whole family—to these companies? It's very unlikely you'll get any useful information, but they will get profitable data. They may promise not to disclose your personal information, yada yada, but that doesn't mean they won't find loopholes to sell on partially anonymised data or statistics in a year or two, or that they won't get hacked.

I usually argue against this kind of testing because I think (a) it's a big fat con that has almost no potential to benefit the person paying for it, (b) it's an invasion of the privacy of entire families, and (c) there may be future risks that aren't known or understood at the time of the test. Once that data's out of your hands you can never get it back.

But I'll shut up now, I've gone on about it for quite long enough. :D
 
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