Lynch syndrome (LS) is a genetic mutation that increases the risk of aggressive cancers, particularly colorectal cancer (CRC), at a young age.

2. Deborah Debono1, Janet Long1, Melvin Chin2, Rachel Williams2, Elizabeth Salisbury3, Tracey Dunlop4,
Kim-Chi Phan-Thien4, Elizabeth Eykman4, Sharron O’Neill5, Jeffrey Braithwaite1,
Natalie Taylor1
1Centre for Healthcare Resilience and Implementation Science (CHRIS), Australian Institute of Health Innovation (AIHI),
Macquarie University; 2Prince of Wales Hospital; 3SEALS, Prince of Wales Hospital;
4St George Hospital; 5Lynch Syndrome Australia
Referral as imagined versus referral as done: mapping the referral
process for genetic counselling for Lynch Syndrome patients

3. Introduction: What is Lynch Syndrome?
• Lynch syndrome (LS) is a genetic mutation that increases
the risk of aggressive cancers, particularly colorectal
cancer (CRC), at a young age
• Cancer patients with a high risk of LS can take a genetic
test
• Carriers can undertake effective surveillance, detect and
treat cancer early and educate relatives
• Early diagnosis of LS can save lives
However …

4. The problem: referral to genetic counselling
for CRC patients with high risk of LS
• Less than half of NSW CRC patients with high risk of LS
are referred for genetic counselling and testing
Given the opportunity to improve the referral process for
genetic counselling and testing for LS where would we
begin?

5. ‘Seeing’ the problem:
mapping the referral process
“If people do not see the process, they cannot improve it.”
(Deming (1900-93))
• To improve the referral process for genetic testing for LS, we
first need to identify and visualise the process
• Process mapping creates a visual representation of the actors,
steps, and decisions involved in a process
• Cross referencing the described process with audit data
collected at various steps of the process can highlight the
process as it exists (work-as-done (WAD)) rather than as it is
imagined to occur (work-as-imagined (WAI))

6. The project aim
To co-develop at two hospitals a map of the current referral
process for genetic counselling of colorectal cancer patients
with a high likelihood of LS

7. Methods
• May – September 2015
• Two hospitals in Sydney
• Face-to-face process mapping sessions (n=6) with key
healthcare professionals involved in the referral process for
genetic counselling for testing for LS
• Implementation team meetings (n=2) with multidisciplinary
health care professionals (Medical Oncologists, Pathology
Registrars, Genetics Counsellors, Colorectal Surgeons,
Radiation Oncologists)
• Audit data collection points identified
• Electronic feedback on process map iterations

8. Method: co-creating the referral process map
Process
begins
Process ends
Yes
Yes
No
No

9. Results
• Nine iterations of the referral process map have been
developed

10. Results: Referral Process Map - Iteration 1
Patient with S&S of
bowel ca
GP
Emergency Dept
Gastroenterologist
Non-routine
colonoscopy
Abnormal tissue
found?
Yes
No
Biopsy taken?
No (e.g. if small
polyps, inflamed
tissue)
Yes
Is IHC ordered? No
Yes
Results
Is the tumour
resectable?
No
Yes
Adjuvant
therapy?
NoPalliative care Surgery
Histopathology +
routineIHC
Routinesurveillance
colonoscopy
Histopathology
Discussed at
MDT?
Reviewed by
surgeon/med onc/
registrar
REFERRAL
Non-staining of
MSH1, PMS2,
etc?
No
Patient agrees
to referral
Germline
defect?
No
No

11. Results: Referral Process Map – Iteration 9
No
Patient with S&S of
bowel ca
1. GP
2. Emergency Dept 5. Colorectal
surgeon
6. Non-routine
colonoscopy
8. Abnormal tissue
found?
Yes 9. Biopsy taken?
10. No (e.g. if small
polyps, inflamed
tissue, destroyed by
diathermy)
Yes
15. Neoadjuvant
therapy?
20. Palliative care
No
23. Histopathology
+ routineIHC
requested
Yes
7. Routine
surveillance
colonoscopy
11. Histopathology
No
25. Reviewed by surgeon at
follow up appointment
29. Normal
MLH1?
3.
Gastroenterologist
12. Is it cancer?
No
4. Medical
oncologist
13. Appropriate
treatment
No
2
5
7A
7B
3B
21. IDEAL/REAL
IHC testing on
biopsy requested by
Medical Oncologist
or Family
Counselling Services
14. Does the patient
meet criteria for high
risk of LS?
Yes
Yes
Legend:
Decision Point Process Step
Start/End of Process
Ideal/Real
Notpart of
the current
process
Audit
data
1
37. Patient
consents to referral
to genetic
counselling?
39. REFERRAL to HCC
Patient with
indication of
surveillance
colonoscopy
Patient with family
history of LS or LS-
related cancer
19. Medically unfit
No
26. Supplementary
report showing IHC
results generated
35. NO REFERRAL
T
T
Yes
No
Yes
41. Patient
agrees to
germline testing
43. Test42. No test
T
T
No Yes
12 11
T
Time
data
T
33.
BRAF
Reflex
Testing
DRAFT - Version 9:
17/09/2015
17. Surgery?
18. Continued
treatment and
management by
medical/radiation
oncology team
No
16. Radiation or
chemotherapy
Yes
Yes
22. Colectomy
sample taken? 24. Preliminary
Report showing
Histopathology
Results generated
Yes
31. Normal PMS2,
MSH2, MSH6?
30. BRAF
ordered?
32. BRAF result
rules out LS? Yes
Yes
No
Yes
27. Reviewed by med/rad
onc
28. Reviewed by
MDT
67C
No
Yes
40. Patient attends
appointment with
genetic counsellor
No
3A
4
7D
38. Referral to a
private clinic or
another public
genetics service
9BT
Yes
Yes
34. Refer to
genetics
counselling?
Yes36. Ongoing
management by
treating doctor
No
10
9A
No
No
8

12. Results
Co-mapping the referral process has:
• Highlighted steps of the process at which data can be
collected to validate the process map and to measure the
effect of improvement strategies
• Exposed work-as-imagined (WAI) versus work-as-done
(WAD)
• Helped to create a shared understanding of the current
process
• Illuminated potential barriers for further exploration

13. Implications
Co-developing a process map with multidisciplinary stakeholders
provides a powerful tool to:
• Garner their unique knowledge of different aspects of the
process to produce a detailed representation
• Facilitate communication between team members
• Generate a shared understanding of the current referral process
(work-as-done)
• Make ‘visible’ specific challenges to appropriate referral to
genetic counselling
• Highlight potential targets for intervention to improve accuracy
and timeliness of referral

14. Thank you and acknowledgements
This project is a Translational Cancer Research Network’s
Cancer Challenge of the Year initiative, supported by Cancer
Institute NSW’s translational cancer research centre program
grant