Private genetic testing in Australia (if you suspect a genetic disorder but can’t get anywhere in the public system)

[kushami]

Just in case it’s of use to anyone, I wanted to post that there are now a couple of private clinics in Australia offering genetic counselling and ordering genetic testing through accredited laboratories for all types of patients and disorders (i.e. not limited to starting a family or hereditary cancer risk). One of the clinics states that no referral is needed.

I didn’t see these services last time I searched, about six months ago, so I suppose they are new. I don’t know whether I will use one or not. I am waiting to see a neurologist about a genetic disorder, and if he proves to be unhelpful I may explore this angle.

It will be expensive, with one clinic charging $AU450 for the initial consultation. Testing costs aren’t listed at all, but from snippets here and there I would guess you might be looking at $500 to $2000, depending on how complex the testing is. You should be able to get an idea of the possible cost beforehand.

This kind of service might be of help if you have reason to suspect a particular genetic disorder (or group of disorders) but can’t get anywhere in the public system, or if you are facing a very long wait in the public system.

I don’t know whether I can afford it or not. I will wait and see what happens when I see the neurologist in August. I will post here again if I contact a private clinic and get a quote.

The waiting time for non-urgent genetic testing through the public system in Australia can be long. I have seen mentions of one year being standard, with some patients waiting up to three years. Ouch.

 

[kushami]

Looking into this a bit further, I have discovered that you do not need a referral to speak to the genetic counsellor at one of these services, but you do need a referral for the clinical geneticist. And I’m presuming it is the clinical geneticist who orders testing.

So despite the very positive wording on the website spiels, these services may not be helpful in getting around an obstructive or unknowledgeable GP or specialist. Unless the genetic counsellor intervenes and convinces them?

I’m just not sure.

Anyway, I made an appointment for a preliminary short telephone call with the counsellor, which doesn’t cost anything. I will report back when I have more information.

 

[kushami]

I am also concerned that one of the services has “autism” in its list of conditions tested for. While it is true that there are genetic conditions that are strongly associated with autism, and we can test for those, autism itself cannot be diagnosed from genetic testing.

Maybe they have oversimplified the list for laypeople, but it still seems off to me.

 

[Carl]

There are other full genome (x30) testing services which might be at a lower price so it might be worth you looking at those. Relying on others to do the work can get expensive. I used Dante Labs some years back but I never made any use of the resulting files, so far at least.

 

[kushami]

There are other full genome (x30) testing services which might be at a lower price so it might be worth you looking at those. Relying on others to do the work can get expensive. I used Dante Labs some years back but I never made any use of the resulting files, so far at least.

Thanks, Carl. I have looked into this to the best of my ability, and as far as I can tell, the conditions I need testing for are only covered in suitable detail by non-DTC companies.

I will take another look, though.

Did you know a member here created a website to upload genetic data files to?

Here's the thread:
https://forums.phoenixrising.me/thr...e-rare-variants-drug-response-etc-free.76245/

And here is the current URL:
https://genvue.geneticgenie.org/

 

[kushami]

I have made an initial enquiry with one of the private clinics, and the cost for appointments and testing will be about $AU2000. I would be having (I think) two "panels" done to look at two disease groups.

If you were having more-detailed or more-comprehensive testing done, the cost would be more, I imagine.

Waiting time for the first appointment is about 8 weeks. I forgot to ask how long the turnaround on the testing would be.

As the clinic is in another state, appointments will be by telehealth and I will need a GP to do a detailed physical exam. Unbelievably, no one has bothered so far, not even the neurologist I was referred to.

I might also need some scans, but these would be covered by government subsidy. If the GP won't order the scans, I suppose the geneticist at the clinic can. In this case, I think they would still be covered.

 

[kushami]

One more thing: You don't need a referral to see a genetic counsellor.

Genetic counsellors can't order testing, but they will send a report to your GP after the counselling session. This report might help you make your case for a referral to the public or private options for seeing a geneticist and getting testing.

You would need to look into the cost and have a GP who is sympathetic.

 

[Carl]

A full genome test costs considerably less than that. I paid something like £200 or slightly over a few years back for a x30 genome test. It's interpreting the results and/or looking for the genes that you are concerned about that is the harder part. There is lots of free software which is supposed to allow the import of VCF and similar files but so far I have not managed to get any of them to show me the information in a way that I can use. I did have a full genome test done long ago but I have not really made any use of it TBH.

https://www.dantelabs.com/
https://nebula.org/
https://dnacomplete.com/tier-selection/ This uses nebula to provide the testing.
Dante Labs are currently charging £351.00 which is £100+ above what I paid.

I need to try and find some time to get a genetic viewer working so I can check certain genes because it might really help me out and I can then adjust what I take to try and work around any weaknesses.

Here is a list of free to use Genome viewers that I have found so far:
Integrative Genomics Viewer (IGV)
GenomeView
JBrowse Desktop
GenomeBrowse (Free Academic Version)
Savant Genome Browser
SnapGene Viewer
NCBI Genome Workbench
VCF Explorer

IGV and GenomeView require Java to run.

 

[kushami]

G'day Carl, that all looks useful. I wish you success with the genome viewers!

 

[kushami]

One problem for me is that the condition I'm suspected of having has a slightly complicated inheritance pattern, and I would need help and further testing to find out which side of the family it came from (possibly both) and whether relatives need to be informed.

In terms of having my whole genome done DTC, I might be able to work out whether or not I have a neuromuscular condition from this particular group of diseases because there are only three genes to look at.

However, the Australian medical system only recognises genetic testing that is done here at an accredited lab, or that is done overseas by special arrangement with an Australian hospital clinic sending to one or two labs that have been recognised for specific conditions. So even if I managed to work out the answer from a direct-to-consumer company, I couldn't get advice on the inheritance pattern or get treatment if I needed it.

In fact, I would still have to go through either the public system (free but very long wait) or the private clinic I described above (expensive but reasonably quick) in order to prove that I have the disease.

I only have one parent still living, my dad who is 84, and I am very keen to get this done while he is still here in case we have to inform his large family in Scotland.