Hello and welcome to today's webinar,
the Value of Dex Z Codes,
empowering payers with genetic test identification and
quality insights.
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as always, comply with that statement.
Among other things,
the antitrust statement prohibits us from discussing
competitively sensitive information,
and we're very fortunate to have with us today,
Kristi Radford, product director at Optum.
And Dr. Megan Landsberg from Palmetto,
G B A a Medicare administrative contractor.
And at this time,
I'd like to turn the floor over to the speakers.
Hi everyone, I'm Kristi Radford.
Hold on one second while I figured this out,
even though we did this like two times before.
So as was mentioned, you know, Dr.
Ensberg and I are here today to talk to you about the value
of d z codes in the commercial space.
We're taking a little bit different spin in the sense of,
as you heard,
we are both individuals with genetics background, right?
We're not your typical product individuals.
And we really wanted to accomplish three main goals today.
One, we wanted to everybody to realize molecular testing is
complex, right?
There is a reason there are degrees in genetics.
We have done our best to present this at a high level.
However,
I did see that there was some people registered that have
genetics backgrounds.
So if in some of our clinical examples you say,
wait a second, that's, that's not exactly how it works,
that's a little basic. Or you've,
you've missed some nuances and some technical details yet,
you're probably right. We did that on purpose.
Sometimes we get told we nerd out a little too much.
So we try not to do that on this call.
Two,
identification and quality of genetic tests are essential,
right? When we think about this,
we have to be able to identify a test and we have to be able
to assess its quality to drive positive patient outcomes,
as well as to ensure financial stewardship.
And then three, the value of Palmetto G B A.
So as you've heard, Dr.
Landsberg is an employee of Palmetto, G B A,
and in her section,
what she's really gonna do is try to show you what they do
to ensure that tests are identified appropriately and how
they do technical assessments.
So I think this is a slide that isn't news to anybody.
We've probably all seen it in one way or another, right?
Genetic tests are complex, technology's exploding every day.
There's more tests on the market,
and there's a limited number of C P T codes.
And with this becomes challenges, right?
It's not a one-to-one ratio.
We can't simply say test A is test a right? Test.
A could be represented by test B, C and D C P T code one,
two, and three.
There's so many permutations that makes your head hurt,
right? Every day there's more tests.
And then when we think about the quality in the utility of
these tests, it gets even more confusing.
Dr.
Lansford and I have both worked at laboratories ourselves,
so we've been on the other side as well,
and know how much time and effort goes into making quality
tests and translating this to the public.
So as you heard of the intro,
I am part of the Optum L B M team, and Dr.
Lansford is part of the Palmetto G B M team.
Together with our colleagues at Optum Genomics and also at
Avalon Healthcare Solutions,
we provide an end-to-end lab benefit management solution
that aligns health plans, providers and labs.
So this joint offering consists of six main components that
you see on this wheel. Network management,
payment integrity, utilization management,
clinical decision support, policy development, and finally,
test identification and quality.
As you probably guessed,
test identification quality is what we're gonna focus on
today.
And we are really gonna do a deep dive into this using the
clinical example of carrier screening.
So you may think carrier screening,
if you have an oncology background or we're hoping for that,
yeah, please, please don't drop, right?
You can stay on and either learn some things or gloss over
until we get to some other pieces that you might be more
interested in. But we really wanted to, you know,
do the deep dive here because it,
it is a significant amount of spend, right?
Like when we think about the commercial line of business,
the commercial line of business is different than Medicare,
right?
You typically don't deal with pregnancies in me Medicare.
So when we look at total spend,
it really averages 10 to 20% of a payer's spend in the
commercial space.
Additionally, a lot of these genes and conditions, right?
There's gene therapies emerging on the market.
This market is expected to grow fourfold and of even more
interest, right?
Last year when we think about all the novel drug approvals,
over half of those were for rare disease.
So this is not a market that's slowing down and these
therapies are not inexpensive. They often range to,
you know, 300,000 a year, sometimes a million adults.
And then finally, whether, you know, we,
we want it to happen or not, fraud,
waste and abuse does happen.
And carrier screening has made the headlines recently.
So switching from the financial aspects to the patient
outcomes and the member impact,
the other reason we chose this is members take action.
When you look at, you know,
if a couple knows their carrier screening status,
60 to 75% do something about it.
So that could be during their current pregnancy,
they make decisions, right?
They make future pregnancy decisions on it,
or they use this information to prepare for the birth of an
affected child.
You know, that's important.
When we think about the diagnostic odyssey in the us,
the average time it takes to diagnose some of these rare
conditions is seven years.
So if we know this, you know,
prenatally or even before an individual is pregnant,
we're able to, you know,
save a lot of time and also improve outcomes.
And then finally,
there are a lot of autosomal recessive conditions greater
than 2000, right?
And there are a lot of tests out there.
So if we think about all the carrier screening tests on the
market,
probably way greater than 250 different combinations.
When you think about pick a gene, pick this gene,
use this panel, use that, I mean,
it really makes your head hurt.
We do this every day and you know,
we were trying to come up with these numbers and thinking
like there's just way, way too many out there.
So in order to understand some of the nuances we're gonna
talk about today,
it helps to have a basic understanding of carrier screening.
Carrier screening tests.
An individual's D N A determine their risk for having a
child with a certain genetic condition.
So as I said earlier,
this information can be used to for alternative reproductive
options or to prepare for a birth of an affected child.
The most common and classic condition is Tacs disease.
And this is represented on the right hand side of your
screen. So Tacs disease,
like many tests that are many diseases that are screened for
is autosomal recessive, okay?
And by autosomal recessive,
we mean it takes two copies of a gene not working to have
the condition. So if we think about this picture,
we have on the left side a father with a white dot.
That white dot means the,
there's a mutation in what's called the hex a gene that's
not working. And then on the right side,
in the purple color,
we have a carrier mother with a white dot,
which means that particular gene is not working in the mom.
So these would be considered individuals that are carriers.
Now, when they go on to have children on the left side,
you'll see what's called an unaffected carrier.
So in this situation, right,
the father TA passes on that light green,
the mother passes on that light purple.
The child has two working copies of that p a gene in the
middle, that's called unaffected carrier.
Just like the parents,
there's one individual that has two individuals that have a
copy of that gene not working.
And then on the right hand side,
we have an affected individual.
So as you can see,
it's a one in four chance of parents or carriers for that
child to have the condition.
Taste X is what we consider the classic example, right?
Because one, when we think about diseases we test for,
we always think of some of the most severe,
when we think about sac, it's a lysosomal storage disorder.
So think about accumulation, right?
If the HX a gene is not working, lots of things accumulate,
the body can't work correctly and the neuro system starts to
degrade. So you have this happy,
healthy baby and then suddenly six months, 12 months,
they stopped developing correctly. And unfortunately,
most of these individuals, you know,
pass away and die at age by age three.
So I think we would can all agree that this is a pretty
significant and severe condition, right?
That ability to be able to screen for these individuals,
you know, really started the carrier screening in the 1970s.
So synagogues were able to use this information and actually
test parents not from a genetic standpoint,
but looking for a reduced enzyme amount and say, yep,
looks like you could have a kid with this condition and they
would arrange marriages where the chance of having this
condition decreased. And these programs worked.
So over the course of several decades,
this actually reduced the incidence of Tay-Sachs disease by
90%.
Fast forward, we were able to test via genetic testing.
So two mutations account for the majority of mutations in
Tay-Sachs in the Ashkenazi Jewish community.
So if you look at this gene here,
we have two orange dots kind of in the middle,
one off at the side. So what we mean by targeted testing,
it was we,
we would look at the gene and test for the specific orange
dot, okay?
What we mean by full gene analysis is we would read the
entire gene. Okay?
So there's a difference because let's say you only looked at
those two dots in the middle and the person happened to have
a dot on the left, you would miss this, right?
But to help make sense of carrier screening and what to do
over time, two main guidelines came into play.
So one is American College of Medical Genetics guidelines,
and the other is the ACOG guidelines,
which we'll touch on briefly in a minute.
So looking at the evolution of carrier screening,
as I mentioned,
TAY Sacs in the 1970s rate really is what kicked off carrier
screening. Then as we progressed through time,
we started testing for cystic fibrosis,
some other gennet conditions, right?
Then as time passes, we learned,
we can look at more places in the gene,
we find more mutations.
Now there's 800 plus mutations in some of these genes,
right? So, you know, we wanna keep evolving and saying,
let's look at more genes like let's look at more pieces of
these genes, right?
The number of genes identified and able to be tests for
continues to grow.
And then if you look at this bottom,
I have something called Sanger sequencing.
Think of that as that diagram before one gene at a time or
pieces of a gene at a time, right?
That's why you'll see, you know, it took a long time,
you know, what is this like 20, you know,
years for various screening protocols really to emerge.
Then technology started changing into something we call next
generation sequencing. So with next generation sequencing,
we look at a bunch of genes at one time.
So for simplicity's sake,
let's say all of these conditions right here have one gene,
all of a sudden with one swoop,
we look at all of these and we can say, okay,
does this individual is,
are they a carrier for a mutation associated with one of
these conditions?
Then in 2010, things really started changing, right?
Technology started emerging for what I just described as
being able to test lots of genes at once, right?
We found out that cystic fibrosis had over 2000 mutations,
so it really didn't make sense to be testing for only a few.
And one laboratory came out and said, you know what?
We've got this new way of doing things.
We can look at this long genetic tail.
You don't need to look at five or 10 conditions.
We can now look at, you know,
over a hundred conditions at a time.
And that is really when expanded carrier screening began to
take off.
If we overlay this with the guidelines I mentioned briefly,
you can see that cystic fibrosis guidelines followed cystic
fibrosis, you know, carrier screening availability, right?
Then there's more meetings, there's more guidelines.
So cystic fibrosis tac then hey wait,
there's more mutations. What do we do with this?
More cystic fibrosis guidelines.
Now we've got Ashkenazi Jewish panel guidelines,
Eastern European, right?
You see the trend here?
Then carrier screening happens,
or expanded carrier screening happens. Here's our paper,
right?
The the new tests are starting to emerge and what happens?
We suddenly see not a lot of single gene tests anymore,
but we see a whole heck of guidelines. A lot of guidelines.
So ACOG in 2011, CF only A C M G 2013,
what should we do for expanded screening?
Now there's another one, what should we do?
Okay, another one for what should we do?
Acog, again, carrier screening.
Now we've got a C M G 2021, and even my society,
national site genetic counselors in 2023 came out with
carrier screening, right?
So we switched from single gene one paper to a whole bunch
of lots of genes, and what the heck do we do?
So let's put this in perspective of a patient in the clinic.
We have a 32 year old female.
She prevents presents for her first prenatal visit.
She's nine weeks pregnant.
This seems pretty straightforward, right?
Pretend you're the clinician, alright?
In this visit,
you need to discuss the personal medical history, right?
You need to discuss the family history,
which also includes what's her partner's family history,
right? You've gotta go over her general health exam,
you've gotta talk about laboratory tests and order them,
right?
Some of these taken form consent that has to be covered.
It's also stated that in this first visit you need to cover
carrier screening.
And then I added on here patient questions.
Because in the genetics world in OB G Y N world,
we all know what happens a lot of times at this visit.
A when am I gonna get that test that's gonna tell me the
gender, because I really wanna plan my gender reveal party,
right?
All of this information needs to be accomplished and an
average of typically nine to 16 minutes, okay?
Kind of insane.
So we haven't even done a deep dive into what all this
means, but let's just take care of your screening, you know,
by itself and say, what do the guidelines say?
This is, you know, almost word for word what they say.
If your doctor's office, you pick a strategy,
you pick either ethnic specific, you pick pan-ethnic,
or you pick expanded carrier screening,
those are all acceptable. So just pick a strategy,
stick with it and you're okay. But guess what?
If a patient comes in and they say to you, oh,
I want this other test,
or I was on Google and I found this other one, I want this,
well,
then you need to be prepared to offer it to the patient,
explain it to them, neither refer or you know,
do the informed consent genetic counseling yourself and
accomplish that for your patient, right?
Then there's certain conditions you should be including.
So you should include cf, ss, m a, thal, thalassemias,
you know, fragile X depending on the family history.
And then wait,
you might need to do even more testing depending on the
family history.
So now you've gotta be able to assess how do I in this 15,
20 minutes also get all the information,
the family history and make sense of this, right?
It's not realistic.
So as a genetic counselor, right,
we always try to take complex information, put it in simple,
simple ways to help our clinical teams.
This is simple, I think it's clear as mud, right?
So we take the A C M G guidelines,
it's represented by square ACOG's, a triangle,
and if both of them recommend screening for a particular
condition, it's a square.
If we were following ethnic specific, I would say, okay,
that lady's Caucasian. I'm gonna test for here.
If we're looking at pan-ethnic,
I would more have a protocol that says, okay,
I'm gonna test for those genes that are gene mutations most
common in all ethnicities, right?
And if I was doing expanded,
I would say I do pan-ethnic plus a whole bunch of other
conditions, which could be 10, could be 20,
could be hundreds, right?
Not simple.
Guidelines are definitely complicated when it comes to
carrier screening.
So we have this 32 year old woman,
she's nine weeks pregnant,
her paperwork states she's Caucasian.
She also reports a family history of developmental delay
autism. We go to her handy sheet,
I'm following a ethnic specific protocol in my office.
Cystic fibrosis should be done, fragile acts and SS m a.
Alright, I got this right, this, this makes sense.
Well, let's talk about CF for a second.
You know,
we don't have time today to talk about SS m A and fragile X
in addition. But when we think about cystic fibrosis,
this is the most common life limiting autosomal recessive
condition in Caucasians, right?
In in this condition,
mutations in the CF t r gene really make things kind of like
mucusy sticky, right?
So if you think about the lungs, you get a lot of mucus,
which what happens,
you get a lot of infections because germs get stuck.
It makes it hard to breathe. That mucus,
if you think about it,
makes other organs kinda sticky as well.
So when you think about the pancreas and the stomach,
it makes, and the GI tract, it makes things sluggish, right?
So this causes problems for you end up with pancreatic
insufficiency. In the majority of cases in the GI tract,
you'll end up with blockages. And then if you're males,
you end up with male infertility the majority of the time.
And then similar to Tay Sacs, you know,
there it is unique in the sense of there's a difference in
the sweat GR glands, right?
So there's more chloride,
and you can use this as a screening test to help identify
individuals with the condition. This is the classic form,
right? Everything in genetics starts off classic.
Well then what happens over time? We learn,
not everything is classic, right?
You have the classic form of cystic fibrosis that presents
as a newborn rate,
then you can have other C F T R related disorders.
So maybe you end up being an individual that has recurrent
sinus infections and bronchitis starting in your teen years
and your pancreas actually works, okay?
But it ends up you actually have cf just a mild
presentation,
or you have congenital absence of the vast devore, right?
So male infertility and you don't have any of the other
symptoms, right?
Those are three very different presentations.
All of those are related to mutations in the C F T R gene.
So if you're a laboratory and you're interpreting your
findings in the C F T R gene, you better get it right,
right? Because depending on,
you know what you call this out,
it's gonna impact the decisions for this pregnancy and for
future pregnancies. And then after birth,
the type of mutation also can influence therapy options,
right? So again, going back to the beginning,
these are not cheap therapies.
So if you're paying for one of these therapies based on
genetic, you know, genotype you,
you wanna make sure that test report was correct and
accurate when you're doing this.
So we've agreed we're all gonna do CF testing,
we get several reports we're gonna walk through.
So one test result for that lady,
I'm the clinician that comes back,
I have a severe mutation and a severe mutation.
Clearly that is not how the reports are written,
but in this case, one severe from mom, one severe from dad,
this would equal classic cystic fibrosis. Okay?
Now we have a second one.
It's a severe mutation and a mild mutation, right?
So as the laboratory, I've called this out,
I've interpreted it, I've done my homework, and this case,
it's really gonna result in male infertility.
Now we have a situation where we have a severe mutation and
we have a quote, new variant.
Now remember, there's over 50,000 variants in this gene,
probably around 2000 that are disease causing.
So new variants happen on occasion. Well,
what does that mean? Well, we don't know.
It could be classic cf, right?
It could be infertility, it could be mild.
So, you know,
sometimes looking at the entire gene isn't always the best
thing because you end up in these unknown situations on what
do we tell the parents?
And then here we have a situation here where no mutation was
identified, but the baby actually had classic cf.
So you're probably looking and saying, well Christie,
how's that possible? Right?
That lab, like why'd they use that lab?
Because clearly they didn't know what they were doing. Well,
remember at the beginning when we talked about tac, I said,
you can look at certain pieces on a gene. Well,
in cystic fibrosis over time, right?
You start looking at more and more pieces of a gene.
So sometimes instead of looking at an entire gene,
individuals will look at the 23 quote,
most common mutations variance in a gene.
So if we think about a Caucasian,
this is to represent the frequency.
So we have certain mutations,
one of which accounts for over 50% of the mutation scene.
And then you start getting less common,
less common in this long tail.
Same thing. If we pick another ethnic background,
let's just say Hispanic, whatever you want to pick,
like this distribution of mutations is gonna look different.
So if we take a panel and we target it for somebody that's
Caucasian with the most common mutations,
and they're not Caucasian, well,
it's not that something that was completely missed, right?
It was missed because those areas of the gene were not
analyzed, right?
So let's say that this patient actually was from Texas and
she was Hispanic.
Well, wait a minute, she told us she was Caucasian.
Well,
she just didn't feel like checking Hispanic because when she
was asked later, she was told, you know what?
I don't really relate to my Hispanic roots anymore.
I didn't even think about that.
Well,
if that laboratory and that or that physician had ordered a
targeted panel for Caucasian, this would've been missed,
right?
And then the other parent would not have likely been tested.
And so it looks like there were no mutations when in fact,
you know,
it was based on the limitation of the test ordered.
So, you know,
question for the group now is really a carrier screen test.
Are they apples to apples or apples to oranges, right?
I, I hope everybody is answering apples to oranges.
I've done this before and people actually responded higher
than I thought that it was apples to apples.
So I hope they were just messing with me because clearly
there's a lot of variability in testing depending on what we
order, how we interpret guidelines,
and then also the technical abilities of a laboratory.
So switching gears for the last couple of minutes,
now let's think about this from an identification
standpoint. I think we've established quality is important.
So going back, we've got that 32 year old female rate.
We know that the doctor ordered CF S M A and fragile X for
this exercise,
we're gonna pretend it's not apples to oranges.
All tests are exactly the same, right?
They're all apples to apples, all right?
Doctor knows what was ordered.
Patient might know what's ordered.
Laboratory knows what's ordered, right?
This is how it often comes into a payer.
So lab A might use the C P T code 8 1 2 2 0.
Lab B might use the C P T code 8 1, 2, 2, 2 and
8, 1, 2, 2, 3, right?
Lab C might say, I don't know what to use,
so I'm gonna use codes that represent cf,
S M A and fragile X lab D might say, okay,
I'm gonna use 8 1 4 7 9 because I'm only supposed to use one
code and I'm ordering several genes.
And then on the same date of service,
they also order another test. Well,
is this because they're using 8 1 4 7 9 for carrier testing?
Or was this because they actually had, let's say,
an I P S or they had a different genetic condition going in
the family on in the family and they ordered the test.
And this is actually an appropriate coding with, hey,
we had two different services. When we look at this,
this is a different combination of C P T codes, right?
For the exact same test.
This is why it gets confusing and why the fact that there's
lots of C P T codes or not a lot of C P T codes,
but a lot of genetic tests and conditions is problematic.
And this is also why people get irritated with payers
because that means often we have to stop this somewhere,
right? We have to stop it and say, wait, like hold on,
what did you actually send us? So this could be, you know,
at the beginning and when prior authorization is done,
this could be when somebody's doing a clinical review and
they reach out for more information, right?
Or this could be at the time when payment is submitted,
but somewhere in this process from a payer's perspective,
we typically have to ask for more information. So, you know,
this is what Dr.
Lansford is gonna speak on in a few minutes, really is,
you know, why and how do we,
we make sense of this information in the table.
And then, you know, as we transition to Dr.
Lanceford part, I really wanna, you know,
kind of ask everybody to think for a second,
have you ever really looked and said how many molecular
geneticists and or pathologists are employed by payers?
Right? You know,
it's not something that I think we often think about.
You know, myself,
I was part of a reduction in force last year at a payer,
and I can tell you,
then I started looking and thinking about it,
and the average is less than one, right?
Most payers do not have these individuals employed.
So then it's the fact of, okay,
where is this information coming from?
Hopefully consultants, right?
But if not really, you know, this is, you know,
from a multitude of papers, there is no industry standard.
We've really, when it comes to carrier screening,
let the molecular laboratories dictate and tell us like what
genes and conditions we should be using.
And this keeps growing, more tests happen, more genes,
right?
We've all been on that other side where it's, hey,
we've got the greatest, best thing, right?
Choices and options are great,
but we also have to be able to sift through it and say,
okay, of these newest and greatest things, what are they?
Right?
And how do we assess this quality and make sure that we're
using the most appropriate tests for our members and also
the most appropriate, the most cost effective price.
So at this time, I'll turn it over to Dr.
Landsberg to talk about the solution.
I'm unmuted here. All right, so essentially,
as Christy said, this is, this is sort of where we come in,
right? So, oh, I didn't get that.
There we go.
I did. So at you're fine.
Soo G B A,
our molecular services program is built on 12 years of
operation and development of the Moldex program.
So this is a program that was developed to identify and
establish coverage and reimbursement for molecular
diagnostic tests for C M s.
And these payer controls are now being rolled out in the
commercial payer space.
We,
we bring that domain expertise by employing subject matter
experts in the field of molecular diagnostics.
So our in-house team consists of subject matter experts with
board certifications in anatomical and clinical pathology,
molecular genetic pathology,
and clinical molecular genetics,
as well as a team of laboratory scientists who all have
experience in performing clinical molecular diagnostic tests
and laboratory management.
So we have developed processes and procedures for performing
comprehensive reviews of clinical molecular tests that
through services that we call technical assessments,
providing valuation of those services established through
various pricing algorithms,
and then integrating of those reviews with the valuation
into automated claims processing.
And all of this information is brought together per test in
one platform under a unique identifier that we assign to
every single molecular test.
Now that molecular test, okay, there we go.
That unique identifier is called the Z code.
So now Z codes are five character alphanumeric codes that
are assigned to every test submission,
which is cataloging curated in our software platform called
the diagnostic exchange or decks.
There are currently over 20,000 entries in the Dex catalog
and growing and using these Z codes allows for greater
granularity of test identification as each entry that is
linked to that code includes a plethora of information about
the test, such as methodology, the intended use of the test,
and whether or not it has passed one of our assessments.
So all of this information can then be used to facilitate
automation strategies such as in claims adjudication or
prior authorization.
Not only because it provides all of the information that one
would need to know what the test is,
but it does provide that reassurance that the test has
already been vetted by subject matter experts in the field.
And it also ensures the best quality of testing and the
appropriate testing is made appro is made available to
ordering physicians and their patients.
As Christie just described, essentially what we're doing is,
is separating the wheat from the chaff here.
So the use of Z codes also restricts that C P T code
unbundling that Chrissy just talked about.
Since each s, each Z code is assigned to a single service,
which is also mapped to a single C P T code. So you know,
as Chrissy just described historically,
we used to think that disease gene associations were one to
one. So mutations in gene X are associated with disease Y,
therefore genes were tested one by one and billed with
individual gene C P T codes. However,
the number of one-to-one gene disease relationships is
shrinking.
And genes with similar clinical presentations or uses are
all now grouped into panels or single services.
And as Christie described,
with the advent of next generation sequencing,
we can now simultaneously test all of those genes in one
service. Therefore,
we expect that single service to be represented by a single
priced code and not a stacking of multiple codes represented
by some analytes that are within that particular panel.
There we go.
So this is not a new process for many labs in this country.
So the Moldex program for Medicare has been implemented in
seven Medicare jurisdictions by four different Macs that
cover 28 states. As you can see here,
all in ones in blue are Moldex states.
These max all implement the same Moldex coverage policies
that apply to all private reference and hospital
laboratories that perform molecular testing and submit
claims to Medicare.
However, it does also affect laboratories outside of these
jurisdictions. So for example,
the non moldex parent company outside of a Moldex
jurisdiction actually has multiple laboratories.
And any one of those laboratories is in a moldex state and
intends on submitting claims from that laboratory they need
to use Z codes.
Now, as you can see here,
it's not a coincidence that the jurisdictions with the
laboratories that receive the most healthcare dollars for
molecular testing are all in mo, mostly Moldex states.
As you can see these, all of the little orange dots here.
But I can tell you that the laboratories that are
represented by the orange dots outside of Moldex states
oftentimes have relationships with ones that are,
so they're still involved in the Z code process.
But the good news is,
is that we capture all of this information index so we know
exactly where and how a test is being performed,
even if it's not the laboratory submitting the claim.
So the point is, it's all about granularity and clarity,
right? So we use established processes, procedures,
and controls to facilitate automated claim adjudication for
molecular testing by determining a number of these things
Rio or ahead of time, right?
So if the specific test from that specific laboratory is the
appropriate test for the patient that it claims to be
designed for,
does the test actually do what it says it does?
Is it of sufficient quality?
And I think this one is kind of important because we often
hear things like, well,
it was validated in a CLIA environment,
or it was validated in a CLIA lab or validated to CLIA
standards.
But we have to keep in mind that the clinical Laboratory
improvement acts were written in 1988 and clinical molecular
testing that as we know it today,
didn't really exist in 1988.
What hasn't changed is the laboratory environment.
So what CLIA does is ensures that the quality standards of
the facility or the laboratory that the test is being
performed in are being met.
It does not set standards for how to validate complex
molecular diagnostic tests.
So simply being performed in a CLIA certified laboratory is
just not enough to demonstrate that a diagnostic molecular
test has been properly validated.
Additional things we we consider are the, you know,
is there demonstrated clinical value for that test and is it
being billed appropriately?
And all of these factors play a role in implementing payer
controls for molecular testing,
and they are already in use by the MOLDEX program for C M S.
So how do we establish if,
if a test does what it's supposed to do,
whether it's being used on the right patient population,
is it a quality test, does it have demonstrated value?
So we create what we call established test types.
Sorry, lost my slide there for a minute.
We create these established test types for each type of
testing service.
This process is performed once prior to any test review and
is similar to what goes into generation of what we call
foundational policies for Medicare.
And they are created in advance of test evaluation.
For example,
solid tumor testing on F F P E samples using next generation
sequencing is a test type. But within that test type,
there are hundreds of different types of services that all
fall into this category for a variety of reasons,
a variety of cancer types,
and all of those types need to be taken into account.
So once a particular service is selected for review,
we perform an evidentiary review using literature,
practice guidelines,
society and subject matter expert input and other sources of
information to formulate a procedure for how to perform an
assessment for that test type.
That procedure includes a review of the analytical validity.
How well does that test detect the mutation or analyte that
it claims to detect,
which is generally demonstrated through both analytical and
clinical validation.
It's clinical validity.
How well does that mutation or analyte relate to the
presence or risk of disease and the clinical utility? How,
how useful is this test?
Does it actually change patient management to approve
patient outcomes?
To obtain this information,
we create forms and documents for the laboratories to fill
out and submit if necessary, as part of that assessment.
And then we also define edit logic such as diagnosis codes,
and we establish pricing models for those particular test
types. Now, once all of these tasks have been completed,
the test type is now considered established,
and technical assessments can be performed on tests that
fall into that test type.
So when any test is registered index,
it gets a Z code and then it's reviewed based on its
complexity, the risk to the patient.
So as we all know,
the effects of false positive and false negative results for
some disorders can be very severe.
The risk of abuse as, as Christie previously mentioned,
and the cost of the test and the risk and cost,
the more scrutiny that test receives and additional data
requested from the lab required to complete that assessment.
Right?
Each, each established test type has its,
has different requirements for data submission and has its
own technical assessment process. So for example,
a next generation sequencing panel for inherited colorectal
cancer is quite different from a next generation sequencing
panel designed for the detection of circulating tumor D N A
in your blood for that exact same cancer.
Therefore,
each test type is evaluated with its own set of criteria,
and that evaluation is performed by subject matter experts
in the field according to the procedures established for
that task.
The technical assessment process is generally completed
within 60 days of receipt of the documentation from the lab
and the submitting laboratory is notified,
and those results are then documented in our deck system.
Now it deemed unsuccessful based on the established criteria
and the process that we've created.
That laboratory is also provided with the details of the
deficiencies, the things that,
that we thought needed to be there that weren't there.
Those final technical assessment results of successful or
not are then provided to the health plan.
So in the MOLDEX program,
those technical assessment results are then used to make
coverage decisions based on policy.
So let's go back to Chrissy's example of our,
our pregnant woman and see how these Z codes and technical
assessments provide the clarity and transparency that we're
all looking for here.
All right, so, all right, my slides are a little slow here,
so it's, okay, there we go.
All right, so this time, instead of this smaller panel,
let's just say the provider orders a guidelines based panel.
So that's what,
that's just what we're gonna call it guidelines based.
And just to be clear,
I am not referring to any particular panel from any
particular laboratory. These are just examples.
So let's say we have five different laboratories and they've
all submitted, you know, we,
they've all got their own guidelines based panel and almost
all of them have mapped their panel to the unlisted C P T
code 8 1 4 7 9. But the panel that has five genes on it,
sort of like Christie described earlier,
has all of these clear C P T codes. So, perfect, right?
We can,
we know what all of these codes are and we should be good to
go. However,
when we look a little bit deeper into those codes,
we see that three of them are represented by what are called
common variants. So as Christy just described, there are,
you know,
variants that are more common in the cystic fibrosis
population. So if we look at these common variants,
what does that exactly mean when you're getting that test
code, what should we expect?
So, you know, as Christy described in 2001,
A C M G defined a list of 23 variants at the time that were
the most commonly characterized variants in the Ashkenazi
Jewish population and Northern European Caucasian
populations. But as she also pointed out,
there are thousands of variants within the cystic fibrosis
gene that we now know cause disease.
And in fact,
panels are ranging from anywhere from 23 to 600 different
targets have been submitted to the deck system under the C P
T code 8 1 2 2 0 4 common variants. Therefore,
even if you have a very specific C P T code,
what is actually being tested from lab to lab is not always
clear.
And as of a couple of months ago,
A C M G now recommends a list of a hundred variants.
So in this case, establishing criteria for what,
even for what a common variant is defined as by published
standards and guidelines will help ensure consistency across
these services.
In addition, you know, as Chrisy noted,
these genes are all being assessed together on the same day,
on the same sample,
and one report is being issued with all of those results,
therefore they represent a single service.
And that single service can be represented by a single Z
code mapped to a single C P T code and not a code stack.
Right?
So let's take a look at labs A and B in the very similar
situation to what Christy just described, right?
So let's say the information that you get is you've got two
guidelines based panels,
both of them have 14 genes on their panel and they're both
mapped to 8 1 4 7 9. However,
if lab A only looks at that subset of mutations in each gene
that are prevalent in very specific ethnic populations with
one methodology and lab B scans the entire gene for disease
causing mutations with a different methodology.
Therefore, as Christie noted,
if a physician orders tests from lab A on a patient who is
not one of those intended use patient populations and that
patient has a rare pathogenic variant,
it's going to get missed.
And from a payer standpoint, under our various processes,
we now know that the assay performed in lab A is different
from the assay performed in lab B and maybe not quite as
comprehensive.
And pricing models may be able to indicate that the two
tests should be priced differently as well.
And all of this information will have then be reviewed and
supplied as part of a technical assessment that only needs
to be formed once and is tied to their individual Z codes.
Alright, so then there's lab D,
lemme see if I can advance here. Alright,
so lab DS guidelines based panel has 97 genes on it. Well,
you know why the difference? Well, as Christie said,
it depends on whose guidelines a laboratory is following,
right?
So the American College of Obstetrics and Gynecology and the
American College of Medical Genetics have very different
guidelines when it comes to who should get carrier screening
panels and what should be on those panels, right?
So for the sake of discussion,
I'm gonna follow a C M G guidelines for this example. Okay?
So let's say we're, these are for for A C M G.
So let's step through a few questions that may be considered
as part of a technical assessment.
So this is obviously not a complete list.
These are just some examples of some of the things that are
SMEs are, are looking for during assessment.
So just to be clear,
this is not comprehensive and so let's compare the answers
that you might get with and without that particular
technical assessment. So the, the first question here is,
does that test contain all of the genes expected for the
intended use? Now if you are, you know,
a payer without a detailed assessment,
you essentially have the laboratory's website or a high
level summary and just this giant list of 97 genes, right?
And you have to assume that if it's on that list,
it's getting covered.
However,
let's say that with a more in-depth assessment of the
submitted documents that the laboratory has sent to us,
we find that the methodology that they're using can actually
not assess eight of those genes on the panel. That,
that the laboratory claims it can.
And that result is buried eight pages deep after the test
has been run in a disclaimer at the very,
very end of the test. Oh, by the way,
we put this in our marketing materials,
but we actually can't test it,
and we're only going to tell you that when the test has been
completed.
So that would be, you know, considered a fail for that,
for that particular factor.
And you know, if anybody's on the call from the,
the laboratories,
if there are genes on your panels that are difficult to
assess to routine routinely sequence,
we know these things with the particular methodologies that
you're using. So just make it clear upfront,
because if you don't, we will find them.
Alright, so it goes for the, the same,
the similar next question.
So does the test cover all of the varying classes expected
for that particular intended use?
So a lot of times the information that is supplied to,
to individuals,
even physicians or payers for summaries of say,
sensitivity and specificity are sort of global for all of
the things that, that that test,
that test says claims to detect.
But what happens if,
let's say the test is really bad at detecting a particular
gene duplications, it's just not good,
but you actually have no idea because they only tested three
samples in their validation,
and two of them were the same duplication. So they say, yep,
our test is great at at testing duplications,
and they a hundred percent, however, upon additional review,
we would find that they haven't demonstrated the ability to
be able to, to accurately detect that class of variance.
Has the test been orthogonally validated by an ortho by an
alternative method?
So what we say are positive and negative samples,
have they been,
have they been confirmed by another methodology?
This is not something that laboratories generally
publicized. So in scenario one, they're gonna get a pass,
right? It's gonna be, yep, that test is, but the test,
so in scenario two, it's gonna fail.
And has the performance of that test been demonstrated in
the correct patient sample type? So again, in sample one,
you just have to trust that it has, right?
There's a lot of trust going on in scenario number one.
And in scenario number two, let's just say for example,
the laboratory says they accepted buccal swabs for that
test,
but there's no demonstration that they've actually ever even
tested a buccal swab for, for that particular test.
So I know, again, you know, lab folks,
you're just gonna say, well extracted D N A is extracted,
d n a, what's the big deal?
And it it's not,
and a patient gets an result because that test has not been
out an assessment,
you can only assume that these things are being performed
based on statutory laboratory practices.
And that test passes right through in scenario two.
There is much more transparency for the performance of the
test and the laboratory then gets informed of those
deficiencies that were identified.
All right? And finally we have lab E here we go,
who performed a large panel with 300 genes on it, because,
you know, the guidelines say 97, but then the, you know,
the patient walks into the provider's office and said, Hey,
I saw this really cool thing on the internet, or, you know,
the provider got some really, you know,
cool information or whatever because you know,
more information is always better, right?
Marketing and salespeople, right?
But it's not all, all the time, right?
So these larger panels are not recommended by any societies
for routine care. And one of the reasons is,
is that the genes on them a lot of times have not been
properly vetted and, and reviewed.
So they don't meet clinical validity criteria because many
of them have a limited disease genes gene relationships
reduced, but you don't get the disease.
Some of the genes on these, you know,
large panels may have only had two or three variants,
pathogenic, causative variants identified in them ever,
right? So how do we know what,
what these things are gonna look like?
And so at this time,
these Uber panels would fail a technical assessment based on
lack of clinical validity and clinical clinical utility.
Alright? So if you remember that,
that the slide that that Christie ended on right before,
right before I started,
with all of these different options that,
that you have for picking tests,
what we are essentially doing is taking all of those tests
and providing the information as to whether or not it is a
good test based on assessment of analytical clinical
validity and clinical utility in our technical assessments.
So we now have the ability to differentiate two different
tests that may have the exact same title,
the exact same number of genes analyzed,
mapped to the exact same C P T code,
but are differentiated by Z codes and technical assessments.
All right? So to, to summarize,
this is sort of how it's done today, right?
Like Chrissy said,
there are 8 1 4 7 9 is a C P T code that is widely used for
many genetic tests because we just don't have the codes
available for all of the varieties of different services
that that, that are available.
And each time one of these tests comes in mapped to
8 1 4 7 9 often requires a, a manual clinical review.
And so then, and then it circles back, right?
So now with implementation of Z codes and technical
assessments,
once that service has been reviewed and determined
successful,
there's no longer a requirement to review it again,
every time it comes up around and automated approval can
take place, right?
This reduces the amount of back and forth between the payers
and the labs and abrasion and hopefully leading to higher
laboratory satisfaction and,
and member and decrease decreased the amount of confusion
for what, for what you're looking at.
It also leads to increased savings. So historically, right?
We calculate savings based on rejected denial and rejected
claims over time, right?
However, in in this particular methodology,
the laboratories are informed that their tests are
unsuccessful prior to submitting any claims and therefore
just don't submit them in the first place, right?
So leading to additional cost savings through what we call
cost avoidance, right?
Those laboratories are just not submitting anything.
So in fact, more than half of the molecular,
the Moldex services that are registered index have not
completed a technical assessment and are therefore not
submitting claims.
So we're technically saving the cost of all of those claims
that are submitted because of the lack of a technical
assessment.
So as I previously noted,
this use of Z codes are already in use by laboratories in,
in more than half the country.
And obviously the goal here is to create a national standard
using those codes for test identification and kind of get
everybody on the same page and using, you know, the,
the same processes and making that granularity and clarity
and transparency of molecular diagnostic testing available
to everyone.
But as Christy started with,
this all comes back around to we're all part of the group,
and this is only part of the comprehensive laboratory
benefit management solution,
which through these joint interactions with our various
partners really aligns the health plans,
the providers and the laboratories from end to end with a
variety of services including, you know,
test identification and quality utilization management,
clinical decision support, et cetera.
All right, so I think with that, I think we,
we've run through everything and we'll take any questions I
think from, from the listeners.
Thanks a lot. Everyone going to different mode here.
Okay, good.
So the first question that we have is,
can you clarify the role of TA in the commercial space
versus the role of the TA in traditional Medicare?
Is there any difference?
Ah, sure.
Again, I can probably take that one.
So just so that to to everybody on the same page,
the technical assessment is performed as part of registering
your Z code with Dex, right?
So it's not for, for any particular payer,
it's not from a list.
It is if you are going to have a Z code index,
the technical assessment process is part of that.
Now you have your choice as to whether or not you submit
your technical assessment documents or not.
But what happens is you are going to see a technical
assessment will be unsuccessful and you can have an
unsuccessful technical assessment essentially for three
different, well,
for two different reasons that you just didn't submit
anything and your technical assessment will be unsuccessful
due to, you know, lack of submitting anything.
Your technical assessment may be unsuccessful because you
did submit something and we found it incomplete or your
technical assessment was submitted. And we,
there's just for, for part, for say for the Moldex program,
you're submitting a cancer test or whatever,
that it does not meet any sort of published guidelines or
clinical utility and does not meet kind of the triad of
analytical validity, clinical validity,
and clinical utility.
So there's a lot of different ways that that one could end
up successful, but not submitting is one of them.
Great.
Thank you.
The next question is, what happens if a TA is not submitted?
Yeah, so sort of similar to, to the previous question,
if you don't submit a technical assessment,
it's just going to show that your technical assessment was
unsuccessful within the deck system.
Now that does not impact, say, commercial payer coverage,
right?
So remember the technical assessment is part of getting the
Z code and being part of the deck system and being curated
in decks as getting part of getting your Z code.
It is independent of coverage and reimbursement from any of
the payers.
Great.
Thank you.
Then the next question we have is how can a commercial
carrier access the Dexy code information?
So Dex is free there,
all you have to do is register and if you go to the Dex
website, there are instructions on how to, to register,
but just be aware that a public viewer sees something
different than so our, our users.
But within the deck system you'll see test descriptions.
You, you don't, as a public user,
you do not get the Z codes, right?
So that that is internal proprietary information,
but you will be able to see if the,
what the description of the test is,
you will be able to see if it is a Medicare covered service
and then what the pricing is.
But to get to that next level of, of information,
one has to essentially subscribe to the software. I.
Thank you.
Then another question we have is,
would z codes be recommended for single gene test if there
is already an appropriate single C p T code.
As from part, part of our system,
regardless of whether or not a test has its own c p t code,
a z code is required, a z code is required for,
for every single gene test.
And then I think follow up to your previous question and
answer was, how does one subscribe?
Oh, how, how to describe for access.
We, we have, we have a team of folks at at Palmetto.
I think that that can help facilitate that.
So if there's a,
a particular individual that's looking for that information,
we can put them in contact with those folks.
And then I know we did get a few questions about if this
recording will be available and I think we'll cover that in
the closing statement. But yes,
it will be available for re-listen fair out.
Okay.
The next question we have is,
is there a current comprehensive listing of the Z codes
under definitions or descriptions?
I guess I'm not sure the, is if the, so is the question,
you know, is there, you know,
a list of Z codes for public use to have that? It's,
that's not available. So we,
we don't give all of the z codes out.
Now a a laboratory obviously gets access to all of their
individual Z codes,
but we don't have any sort of master list that we,
that we give out to folks that acc that access is available
essentially through the subscription to the program.
Great, thank you.
And then one more on that. If, if there's no price,
can I assume the test is not approved by Moldex?
No.
And, and I guess the, so if, if the, you know,
if the question is, if the test hasn't been priced yet,
you know, is that related to coverage?
So again,
we have to remember that there's a successful technical
assessment.
There's whether or not within mold X that test is a covered
service and then the pricing is separate.
So there's sort of three separate entities and it's entirely
possible that that one could have a price or not have a
price independent of whether or not the test is covered.
I'm not quite sure I, you know, I completely understand the,
the question, but if a laboratory,
if you were in a laboratory and you,
you think you have a covered service for Medicare through
Moldex and you don't have a,
a price displayed within Dex and you have a C P T code of
8 1 4, 7, 9, you know, just let the team know.
And that can get fixed if the,
if your test is mapped to a known C P T code that's in the
clinical laboratory fee schedule,
it will just say C fee schedule and you can go to the
clinical laboratory fee schedule to look up that price.
Great. Thank you.
I know we're coming up to the end of our time and I see that
more questions are coming in.
We can definitely make sure to follow up on any questions
that we haven't answered yet.
Thank you.
And to our speakers,
thank you for that great presentation and for sharing your
thoughts.
Thank you to the audience for participating in today's
webinar. This concludes today's presentation.
Thank you again and enjoy the rest of your day.