graeme suthers - sa pathology - genetic testing - current issues and future outlook
DESCRIPTION
Professor Graeme Suthers, Head, SA Clinical Genetics Service, Genetics & Molecular Pathology Directorate, SA Pathology presented "Genetic Testing - Current Issues and Future Outlook" at the National Pathology Forum 2013. This annual conference provides a platform for the public and private sectors to come together and discuss all the latest issues affecting the pathology sector in Australia. For more information, please visit the conference website: http://www.informa.com.au/pathologyforumTRANSCRIPT
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Genomics: Where do we need to go?
Graeme Suthers
Genetics Advisory Committee, RCPA;
SA Clinical Genetics Service, SA Pathology.
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What is genetic testing?
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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
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Australian Genetic Testing Surveys
2006 and 2011
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Genetic testing is diverse
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Australian Genetic Testing Surveys
2006 and 2011
5
Genetic testing is invisible
– and complex
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Australian Genetic Testing Surveys
2006 and 2011
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Genetic testing is national
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Australian Genetic Testing Surveys
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
Australian Genetic Testing Surveys
2006 and 2011
Genetic testing is unequal
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• 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.
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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?
10
Medicare: the only national dataset
Medicare funding in 2011
All pathology
Genetic pathology
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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
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• 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
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• 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
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• 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
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• 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
Funding for intra-State tests per thou popl'n
FEDERAL State
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• 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
Funding for intra-State tests per thou popl'n
FEDERAL State Research
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• 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
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• 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
Funding for intra-State tests per thou popl'n
FEDERAL State Research Patient
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• 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
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• 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).
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• 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?
22
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
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• 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.
23
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
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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
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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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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”?
What is the clinical
validity a genome
analysis?
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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”?
What is the clinical
validity a genome
analysis?
Methods change every
few months. What is
“quality”?
![Page 32: Graeme Suthers - SA Pathology - Genetic Testing - Current Issues and Future Outlook](https://reader033.vdocuments.site/reader033/viewer/2022052523/556e5e2fd8b42a6a248b485b/html5/thumbnails/32.jpg)
32
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”?
What is the clinical
validity a genome
analysis?
Methods change every
few months. What is
“quality”?
Should payment be by
assay – or utility? How
can HTA cope with a
new standard?
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33
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”?
What is the clinical
validity a genome
analysis?
Methods change every
few months. What is
“quality”?
Should payment be by
assay – or utility? How
can HTA cope with a
new standard?
Do clinicians
understand what
they can ask, and
the answer?
![Page 34: Graeme Suthers - SA Pathology - Genetic Testing - Current Issues and Future Outlook](https://reader033.vdocuments.site/reader033/viewer/2022052523/556e5e2fd8b42a6a248b485b/html5/thumbnails/34.jpg)
34
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”?
What is the clinical
validity a genome
analysis?
Methods change every
few months. What is
“quality”?
Should payment be by
assay – or utility? How
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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35
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”?
What is the clinical
validity a genome
analysis?
Methods change every
few months. What is
“quality”?
Should payment be by
assay – or utility? How
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 …
Who owns genetic
information? How is it
stored, updated, and
made accessible?
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36
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”?
What is the clinical
validity a genome
analysis?
Methods change every
few months. What is
“quality”?
Should payment be by
assay – or utility? How
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 …
Who owns genetic
information? How is it
stored, updated, and
made accessible?
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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.
37
Conclusions … for now.
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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.
38