Genetic testing woes

[Aaron98]

I saw my neurologist for my bi-annual checkup last week. I asked him about having genetic testing done to find out my mutation signature. For the record, I conclusively have AMN, as we have an extensive family history of ALD/AMN, and it was confirmed with VLCFA testing. But I've never had genetic testing done, and I feel like I have a right to know what my exact mutation signature is.

Anyways, my neurologist's medical assistant reached out to my insurance, and it sounds like they A) don't know whether this testing is medically necessary, and B) can't tell me whether they will cover it until AFTER I have the test performed. How does that make any sense? The exact text of the message I got from my neurologist's MA this afternoon is pasted below. This test gets sent to the Mayo Clinic, and apparently the cost could be up to $800, so far from cheap. I'm not paying $800 for this.

Would anyone be able to enlighten me as to what the value of knowing your mutation signature is (other than just having the information)? Is there anything about it that could be deemed medically necessary, especially since I was already diagnosed years ago? Does anyone have any ideas that might help me get this done? Maybe one of the specialty centers (Kennedy Krieger, UMass, Stanford?) could do this for cheaper? Thanks for the help!

Text from my neurologist's MA:

"Hey Aaron, so I called the insurance to check on the prior authorization (PA) for this genetic testing and what they told me and I don't know how much this will help. But they said a PA isn't required for this test but once it's done they will then determine the medical necessity of it. I mean it may go through no problem but they could always say after it's done that it wasn't medically necessary and won't cover it. Now that being said they did say if they do decide not to pay for it you can always appeal the decision with a letter of medical necessity but that will depend on if they cover or not. But no PA is needed but it's up to you Aaron if you still want to move forward with it."

[AussieBob]

It has great benefit my friend as it helps with understanding the different phenotypes. Please look at The ALD Mutation Database Adrenoleukodystrophy.info. Get it done but research if Kennedy Krieger or the like will do it for you. The Netherlands leads this field and works with all the ALD US experts

[SongStream in reply to AussieBob]

Good information and just what I needed! Thank you.

[AussieBob]

And as you the VLCFA test is unreliable in women who need the genetic testing

[monkeybus]

Aaron, I couldn't say one way or the other about specific signatures for AMN, since we can only treat the symptoms, and even then, getting the medicines prescribed can be a full time job in itself.

All I know is, I was told I had Hereditary Spastic Paraparegia. My wife insisted I get a genetic test as there were treatment options for certain HSP types (which I cannot remember now).

As I recall, since they weren't sure what disease I had, they had to test a lot of genes. Expensive. AMN was a bad result, but I am not sure if other signatures could have been more bad, in the sense that the medicines I am prescribed haven't changed since I was first diagnosed with HSP.

All that said, $800 sounds reasonable to me. If there was something in it for me, I'd pay it.

[SongStream]

Hey Aaron,

My brother was the one who informed me in 1999 to get a genetic test for AMN for which he was recently diagnosed. Strangely, in 1979, I was advised from him or a doctor to test for Addison's after he had an Addisonian crisis which leads me to believe that the doctor(s) knew about future AMN developments.

Now, cut to the present: One of the requirements to participate in the Min-102 trial was to have a genetic test. (I didn't receive mine but had a consultation with a genetic counselor.) This was after I provided them my VLCFA test from Kennedy Krieger that I received back in the day. My insurance paid for it as I told them it was required for my participation in a clinical trial.

Nevertheless, I agree that you should get one. We all have a right to know even though I admit I'm at a loss at comprehending mine.

[LessThanRich]

As far as I know there is no treatment for any Phenotype of AMN. So ultimately its pointless information, albeit interesting.

Surely as monkeybus said, we are better treating symptoms and improving our day to day lives.

If you are hoping to help find a cure for AMN, hats off to you. But unfortunately I think you are chasing rainbows.

[COwithAMN Administrator AMN EASIER Volunteer]

You raise a very good question Aaron98. Bob in Australia usefully comments that understanding the mutation has great benefits. I would like to ask, Bob, what those benefits are? The web site that Bob references is terrific and lists more than 800 discrete mutations. adrenoleukodystrophy.info/m...

But it does seem to cast doubt at least on the value - at this time - of knowing your own variant. As it says "Because ABCD1 mutations have no predictive value with respect to the clinical outcome of an individual patient no phenotypic information is provided."

I fancy that in the future, knowledge of the mutation will lead to better and more specific therapies. But I am doubtful as to its value today.

[Mamring]

My son's test was not covered by BCBS (they said it was investigatory, which is ridiculous). However, the company who did the test, Invitae, only charges $100 if it is not covered. You might want to check it out. We are still trying to get the test covered, because it should be, since he defintely had the gene mutation.

[wilburlois15]

We all have a faulty gene due to incorrect copying at some time in the past. Mine was in my mum's ovaries (she doesn't have the faulty gene), for other people it could have been many generations ago.

This fault in the ABCD1 gene could be in any of the base pairs between 153,724,851 to 153,744,762 on the X chromosome (source below). But it doesn't matter which pair. If there is a fault, we have AMN because we can't create the correct protein.

The location and nature of the fault isn't useful, unless of course some time in the future they can use a genetic technique to replace the incorrect piece of DNA.

The variation in our symptoms is a function of our body's ability to withstand toxic levels of VLCFA. That likely relates to other genetic factors elsewhere in our DNA.

We're all very unlucky to have this disease, but if were sitting here writing about it we are lucky that our bodies have a resistance to the VLCFA that has enabled us to survive to adulthood.

Angus

ghr.nlm.nih.gov/gene/ABCD1#...

[Equinney]

Mine was done through Invitae and was only $200. The geneticist just mailed me the kit to send to them and did they did the billing. My insurance, UHC, at the time covered all but $60 of it. Not really sure the importance of it now, but may be in the future. I have learned that even the same mutation can cause different symptoms.