Graeme Suthers - SA Pathology - Genetic Testing - Current Issues and Future Outlook

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Genomics: Where do we need to go?

Graeme Suthers

Genetics Advisory Committee, RCPA;

SA Clinical Genetics Service, SA Pathology.

What is genetic testing?

2

Genetic tests are more than DNA

• DNA-based tests

• Biochemical genetic tests (183 different types)

• Cytogenetic tests (177 different types)

3

Purposes of genetic tests

• Diagnostic

• Predictive

• Theranostic (+/- somatic)

• Screening

Australian Genetic Testing Surveys

2006 and 2011

4

Genetic testing is diverse


2006 and 2011

5

Genetic testing is invisible

– and complex


2006 and 2011

6

Genetic testing is national


2006 and 2011

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0

500

1,000

1,500

2,000

2,500

3,000

2006 2011

No. of sendaways

Sent overseas

Genetic testing is international

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0%

20%

40%

60%

80%

100%

2006 2011

Test type by access

Equal rate oftesting

Unequal rate oftesting


2006 and 2011

Genetic testing is unequal

• Complex and variable discipline.

• No national data dictionary.

• No audit of data submitted.

• No national price list.

• Few international comparators.

• Sensitive information …

9

What do medical DNA tests cost?

Disclaimer: This analysis represents my work alone. It has not been

critiqued or endorsed by the RCPA, DOHA, or other agencies.

Total MBS funding ~$2.1 billion.

Other pathology funding unknown

Genetic rebates (incl. cyto) ~$27 million (1.5%).

DNA test rebates ~$6 million (0.25%).

What is the total cost of DNA tests?

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Medicare: the only national dataset

Medicare funding in 2011

All pathology

Genetic pathology

Molecular tests

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Costing genetic tests in 2011

State

Lab

Test target n. (MBS)

n. (State)

n. (other)

$$ (MBS)

$$ (State)

$$ (grant)

$$ (other)

n. (grant)

Cost per test estimated

from current MBS price.

• specific assay $40

• multiple assays $230

• mutation screen $500

All data derived from labs,

except for assay prices.

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Total cost of DNA tests in 2011

Funding for all medical DNA tests

Non-MBS funding

MBS funding

• No “corrections” to lab data.

• Modelled test costs on current MBS price.

• MBS-funded tests = 11% of est. total.

• Medicare reports total price ~$7.6 million.

i.e. total DNA tests costs ~$75 million

• Consider funding for intra-State tests.

• Small States & Territories excluded from Figure.

• Other States de-identified (consistently).

• 10-fold difference in rate of MBS funding of DNA

tests… despite “level playing field” re rebate.

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Medicare funding for DNA tests in 2011

$0 $500 $1,000 $1,500 $2,000 $2,500 $3,000 $3,500

A

B

C

D

G

Funding for intra-State tests per thou popl'n

FEDERAL

• Assessed four long-standing DNA-based tests.

• Variable rates of testing for all tests in different States.

• No consistent pattern by test or State.

• No correlation with overall Medicare funding.

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Rates of testing with Medicare rebate

- 1.0 2.0 3.0 4.0 5.0 6.0

A

B

C

D

G

Rate of testing per thou popl'n

F5

FMR1

HFE

PMP22

$0 $500 $1,000 $1,500 $2,000 $2,500 $3,000 $3,500

A

B

C

D

G

Funding per thou popl'n

FEDERAL

• 66% of labs billed Medicare for common tests.

• 25% of labs billed Medicare for uncommon tests.

• 20% of labs were inconsistent re billing policy.

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Rates of billing to Medicare

0% 20% 40% 60% 80% 100%

F5(n=17)

FMR1(n=13)

HFE(n=19)

PMP22(n=4)

% labs claiming MBS funding Lab policy re MBS

(n=19)

non-consistent

consistent

• Level of State funding varied 6-fold.

• State funding was not correlated with Medicare funding.

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State funding for DNA tests in 2011

$0 $500 $1,000 $1,500 $2,000 $2,500 $3,000 $3,500

A

B

C

D

G


FEDERAL State

• Level of grant-funded testing varied 25-fold.

• All labs were accredited for medical genetic testing.

• Should diagnostic testing be funded by research grants?

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Research funding for DNA tests in 2011

$0 $500 $1,000 $1,500 $2,000 $2,500 $3,000 $3,500

A

B

C

D

G


FEDERAL State Research

• Across all States & Territories, Medicare

(FEDERAL), States, and grants funded 72% of

costs of intra-State tests.

• Who paid for the rest?

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The funding gap for DNA tests in 2011

Funding of intra-State tests

FEDERAL

State

Research

• The contribution of patient fees varied 50-fold in

different States.

• Total funding per capita for intra-State testing

varied ~3-fold.

• Total costs correlated with overall rate of testing in

each State.

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Patient funding for DNA tests in 2011

$0 $500 $1,000 $1,500 $2,000 $2,500 $3,000 $3,500

A

B

C

D

G


FEDERAL State Research Patient

• A combination of Federal, State, grant, and patient funds

paid for intra-State genetic testing.

• Overall, patients funded 28% of the cost of intra-State tests.

• These figures do not include the cost of testing intra-State

samples sent elsewhere (interstate sendaways).

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Overall funding for DNA tests in 2011

Funding of intra-State tests

FEDERAL

State

Research

Patient

• The relative contributions of

funding sources varied by

State …

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Funding by State

0% 20% 40% 60% 80% 100%

<10

10s

100s

1,000s

10,000s

% funding for intra-State tests

FED State Grants Patients

0% 20% 40% 60% 80% 100%

A

B

C

D

G

% funding for intra-State tests

FEDERAL State Research Patient

Funding by volume

• … and assay volume (tests

grouped by no. of assays per

year).

• Cost of inter-State tests were ~10% of total costs.

• The proportion of test costs devoted to inter-

State testing varied 4-30% in different States.

• Who paid for these inter-State tests?

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Funding for inter-State DNA tests in 2011

0% 20% 40% 60% 80% 100%

A

B

C

D

G

Relative costs for intra/inter-state tests

Intrastate testing Interstate testing

• Shows perspective of lab doing the test – not the sender.

• Overall, States funded 66% of tests performed elsewhere.

• Patients funded 21% of tests performed elsewhere.

• Wide variation in sources of funding for inter-State tests.

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Funding for inter-State DNA tests in 2011

Funding of inter-State tests

No charge

Requesting lab

Research

Patient

0% 20% 40% 60% 80% 100%

A

B

C

D

G

% funding for interstate samples

No charge Requesting lab Research Patient

1. There are multiple sources of funding for

medical DNA tests.

2. MBS funding of genetics is dominated by the

MBS funding of other disciplines.

3. Multiple funding sources are applied

idiosyncratically (at best) or unfairly (at

worst).

4. Most funding occurs outside a reporting or

accountability framework.

5. A consistent national reporting framework is

required.

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Conclusions … thus far.

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“Minor” challenges in pathology…

Test desired

Test

payment

Patient

need

Test

attributes

& safety

Quality

of lab

Clinical

decision

Family

issues heritable

26

Meeting the challenges in pathology…

Test desired

Test

payment

Patient

need

Test

attributes

& safety

Quality

of lab

Clinical

decision

Family

issues heritable

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Test desired

Test

payment

Patient

need

Test

attributes

& safety

Quality

of lab

Clinical

decision

Family

issues heritable

Meeting the challenges in pathology…

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The big challenges in pathology…

Test desired

Test

payment

Patient

need

Test

attributes

& safety

Quality

of lab

Clinical

decision

Family

issues heritable

Is analysis of

20,000 genes

“one test”?

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Test desired

Test

payment

Patient

need

Test

attributes

& safety

Quality

of lab

Clinical

decision

Family

issues heritable

Is analysis of

20,000 genes

“one test”?

What is the clinical

validity a genome

analysis?

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Test desired

Test

payment

Patient

need

Test

attributes

& safety

Quality

of lab

Clinical

decision

Family

issues heritable

Is analysis of

20,000 genes

“one test”?


validity a genome

analysis?

Methods change every

few months. What is

“quality”?

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Test desired

Test

payment

Patient

need

Test

attributes

& safety

Quality

of lab

Clinical

decision

Family

issues heritable

Is analysis of

20,000 genes

“one test”?


validity a genome

analysis?


few months. What is

“quality”?

Should payment be by

assay – or utility? How

can HTA cope with a

new standard?

33


Test desired

Test

payment

Patient

need

Test

attributes

& safety

Quality

of lab

Clinical

decision

Family

issues heritable

Is analysis of

20,000 genes

“one test”?


validity a genome

analysis?


few months. What is

“quality”?



can HTA cope with a

new standard?

Do clinicians

understand what

they can ask, and

the answer?

34


Test desired

Test

payment

Patient

need

Test

attributes

& safety

Quality

of lab

Clinical

decision

Family

issues heritable

Is analysis of

20,000 genes

“one test”?


validity a genome

analysis?


few months. What is

“quality”?



can HTA cope with a

new standard?

Do clinicians

understand what

they can ask, and

the answer?

Unequivocal patient

benefit, or curiosity, or

research, or social

engineering …

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Test desired

Test

payment

Patient

need

Test

attributes

& safety

Quality

of lab

Clinical

decision

Family

issues heritable

Is analysis of

20,000 genes

“one test”?


validity a genome

analysis?


few months. What is

“quality”?



can HTA cope with a

new standard?

Do clinicians

understand what

they can ask, and

the answer?

Unequivocal patient


research, or social

engineering …

Who owns genetic

information? How is it

stored, updated, and

made accessible?

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Test desired

Test

payment

Patient

need

Test

attributes

& safety

Quality

of lab

Clinical

decision

Family

issues heritable

Is analysis of

20,000 genes

“one test”?


validity a genome

analysis?


few months. What is

“quality”?



can HTA cope with a

new standard?

Do clinicians

understand what

they can ask, and

the answer?

Unequivocal patient


research, or social

engineering …

Who owns genetic

information? How is it

stored, updated, and

made accessible?

1. Medical genetic testing is complex, messy,

and changing.

2. The technical revolution is driving change in

knowledge and expectations.

3. This is a major disruptive change in test

conception and delivery.

4. Every element of test delivery is challenged.

5. The fundamentals of pathology remain:

providing fair access to quality information

for wise decision-making.

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Conclusions … for now.

With thanks to

• DOHA for funding the surveys.

• Dr Kym Mina FRCPA, for the 2011 survey data.

• The many colleagues who collected data – after

hours, under pressure.

• Successive RCPA Presidents for strong support:

Bev Rowbotham

Paul McKenzie, &

Yee Khong.

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Graeme Suthers - SA Pathology - Genetic Testing - Current Issues and Future Outlook

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