Athena Diagnostics interview with Amar Kamath

[Guest guest]

Dear ers,

The following information is a result of my first interview with Amar

Kamath of Athena Diagnostics, the lab that does the CMT tests. It

includes the PRICE and info on FALSE NEGATIVES.

I am posting the information in the order of what was discussed for

now. I plan to ask more questions and continue to speak with Mr.

Kamath since now that I have some " basic " questions in my mind

settled, I have plenty of new ones! It seems to me that Athena's

information may be miscommunicated, or mis-interpreted, and I still

want to put more time into this so I can fully understand. Read on

for the info.

~Gretchen

Athena Interview – Everything you want to know!

The process of testing the CMT blood for DNA is as follows:

1. Each sample is recorded in Athena's system and a unique ID is

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

purposes.

2. The sample quantity is measured to verify sufficient sample is

available for testing.

3. DNA is extracted from the sample using two different robots - one

for PMP22 duplication/deletion analysis and the other for sequencing

the nine genes we test for.

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

MLPA and PCR and sequencing is performed on the genes requested by

the physician. Note that physicians can order individual tests such

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

Axonal panel.

5. Results of the above tests are reviewed by technologists for

quality of data, and repeated as necessary.

6. Results are approved by technologists are presented to lab

directors for review and release.

7. Lab directors may reschedule certain patients as needed to verify

complex results.

8. Once lab directors release the results, reports are generated and

mailed or faxed to physicians ordering the test.

In reference to the 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.

The 18 CMT " Types " that can be DNA tested now are: CMT1A, 1B, 1C, 1D,

1E, 1F, 1X, 2A, 2E, 2I, 2J, 2K, 4A, 4E, 4F, HNPP, CHN, DSN.

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 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 $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 $6995, 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. You may be interested to

know that 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. "

The price breakdown can't be broken down any father at this time,

because Athena would be providing competitive info to anyone that may

read this information. In addition, Athena would lose their

negotiating position with healthcare purchasers if everyone knew our

costs. Amar goes on to state " All I can really say is that our

reimbursement rates are similar to other healthcare providers and

therefore, we have to really watch our costs to stay in business. "

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 CMT, while the patient, in reality, does

not have the disease. This is also referred to as specificity

or " percentage NORMAL patients that will be reported as NORMAL " if

they were to be tested.

Athena Diagnostics has 200 employees and offers diagnostic tests in

Neurology, Nephrology, and Endocrinology. Athena is structured

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

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

marketing, and business development.

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 info, missing

mailing info for results, or some technical complexity with the

results that requires a consult with the ordering doctor.

Athena does not offer genetic counseling directly to patients, since

there is no direct contact with them. 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 a unusual result, and give them a heads-

up.

Athena is the only commercial lab offering the CMT testing primarily

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 owned by a

company called Athena Neurosciences for a few years during the 1990s

and they changed our name from Genica to Athena Diagnostics. 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.