Athena Diagnostics - CMT testing, fees, etc.

[Guest guest]

(Moderator's note: The following article is one I wrote about a year

ago after interviewing Amar Kamath of Athena, the lab that does the

CMT DNA blood test. If you need to refer to it again, you can find

it in our Files under " Research " )

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Athena Diagnostics - Everything you want to know NOW!

By Gretchen Glick 11/26/05

Due to recent confusion in the CMT community about the pricing of

the CMT DNA testing at $9,000, we offer an in depth look at the

test, correct prices, and an easy to understand procedure guide for

what happens to your blood sample after it arrives in Boston.

First, each sample is recorded in Athena's system and a unique ID is

assigned, so the patient's name is hidden from the sample for

privacy purposes. Then the sample quantity is measured to verify

sufficient sample is available for testing. That is followed by a

DNA extraction from the sample using two different robots - one for

PMP22 duplication/deletion analysis and the other for sequencing the

additional nine genes for CMT. DNA material is extracted from the

white blood cells.

Dup/del analysis is performed for CMT1A using a technology called

MLPA and PCR. Additional sequencing is performed on the genes

requested by the physician. Physicians can order individual tests

such as CMT1A or MFN2 or panels such as Complete CMT Evaluation or

the Axonal panel.

Following these steps results of the above tests are reviewed by

technologists for quality of data, and are repeated as necessary.

Then results are approved by technologists are presented to lab

directors for review and release.

Lab directors may reschedule certain patients as needed to verify

complex results. Once lab directors release the results, reports are

generated and mailed or faxed to the physicians who ordered the

test. Once the DNA test is complete, the result is sent out within a

day or two unless there is a problem such as missing billing

information, missing mailing information for results, or some

technical complexity with the results that requires a consult with

the ordering doctor.

In reference to this procedure above, each preliminary process is

built on data entry which happens once a day. This takes place

BEFORE any lab work actually begins on the blood sample. Following

that, then DNA extraction happens on day one or day two at the

latest.

Testing can be done for types CMT1A, 1B, 1C, 1D, 1E, 1F, 1X, 2X, 3X,

2A, 2B, 2C, 2D 2E, 2F, 2I, 2J, 2K, 4A, 4E, 4F, HNPP, CHN, DSN . In

addition, testing is now available for CMT Type 3 (formerly known as

Dejerine Sottas) and now considered to be a variant of CMT Type 1.

A current test for CMT Type 5 is not available at this time.

The CMT Genes related to these " types " are: PMP22, CX32, MPZ (P0),

EGR2, NFL, PRX, GDAP1, LITAF/SIMPLE, MFN2. Of all the clinically

diagnosed CMT cases, DNA testing from Athena can confirm approx. 70-

80% of cases.

As for testing on `future or unknown types' of CMT Amar Kamath of

Athena states " we are not sure if there are any genes left that

account for a large enough proportion of CMT cases that we can offer

to help patients get a confirmed diagnosis. Many of the genes

currently being discovered seem to be linked to one or two families

with very specific geographic origin. "

When questioned about the rumored $9,000 fee for the CMT testing,

Amar replied " This one is a surprise to me! We do not have any test

that is priced at $9,000! " He continues, " Athena's Complete CMT

Evaluation lists for $6,995, but that is the list price, and

typically only insurance companies pay that. All the labs that have

agreements with us pay approximately $4,700. For patients that have

commercial insurance, we can bill their insurance directly and the

patients can participate in our Patient Protection Program.

This program allows patients to pay 20% of the insurance charges as

a deposit and if insurance pays more than 80%, we refund the excess.

The 20% for the Complete CMT Evaluation is $1,399. If insurance pays

less than 80% or nothing at all, patients will be fully protected

and will not be responsible for anything more than the 20% already

paid. "

In the United States, Medicare does cover the cost of CMT testing.

There are no special arrangements required. A physician needs to

order the test and the test needs to be sent to us with the Medicare

billing information.

The specificity of the DNA tests are typically more than 99%, in

other words, false positives are virtually non-existent, according

to Mr. Kamath. False positive refers to the possibility that a DNA

test indicates that a patient has a specific disease like CMT, while

the patient, in reality, does not have the disease. This is also

referred to as `specificity' or " percentage of NORMAL patients that

will be reported as NORMAL " if they were to be tested.

To order tests from Athena, physicians simply have to complete the

appropriate test requisition fax it to Athena to schedule a blood

draw or send the patient to a local lab for blood draw. If Athena

schedules the blood draw, the person collecting the blood will FedEx

the blood sample to us. If a local lab performs the blood draw, they

FedEx the sample to us. Either way, the sample arrives at Athena

within 48 hrs of blood draw. DNA can be extracted from the blood for

up to 30 days after the draw, so this does not cause any problem.

Athena pays all blood draw and shipping costs.

For people living outside the US and Canada, Athena recommends that

persons send their DNA sample (have the DNA extracted at a local

lab) to us along with a check for the cost of the test.

Athena Diagnostics has 200 employees and offers diagnostic tests in

Neurology, Nephrology, and Endocrinology. Athena is structured

similarly to a small business with most of the departments one would

find in similar companies: finance, operations, research, sales,

marketing, and business development.

Athena does not offer genetic counseling, since there is no direct

contact with patients. However, Athena does offer genetic counseling

assistance to physicians so that they are better prepared to discuss

the results. In fact, Athena calls all physicians that receive a

positive or an unusual result, and give them a " heads-up " notice.

Athena Diagnostics is the only commercial lab offering the CMT

testing because the company hold licenses to patents granted to

academic researchers that did the original discovery work and filed

patents on the technologies for genetic testing of many diseases. If

someone else had licensed these technologies, they would be offering

these tests rather than Athena.

The only reason the name " Athena " is because it was formerly owned

by a company called Athena Neurosciences for a few years during the

1990s. The name change from Genica to Athena Diagnostics followed.

Athena Neurosciences no longer exists, so Athena Diagnostics is what

is left. There is no tie in with the Greek Goddess Athena -

goddess of wisdom, war, the arts, industry, justice and skill.