The Risk Clinic Module is designed to manage the data and the workflow of a Breast/Ovarian Cancer High Risk Clinic. It is currently under modification to increase its utility for other Hereditary Clinics, such as Cardiac Disease or Colon Cancer. A set of screenshots and an overview of the module can be reviewed via this downloadable PowerPoint presentation.

1. Assessing Risks for families with
inherited cancers: an introduction
to a new system
Kevin Hughes, MD

2. OMIM: Online Mendelian Inheritance in Man
188 adult hereditary syndromes
• Syndromes with at least 1 adult chronic disease:
- Benign 153
- Cancer 32
- Cancer plus benign 3
Scheuner (Am J Med Gen, 2004)

3. Adult hereditary syndromes: 188
Scheuner (Am J Med Gen, 2004)

4. 13 years of genetic testing
• BRCA1/2 mutation carriers in the US
- ~1,000,000
• Number identified to date
- ~50,000 (~5%)
This is likely the best of any adult hereditary syndrome

5. Problems to solve
• Most high risk women are not being
identified or referred for counseling
• Our Risk Clinics could not manage the
volume if all high risk women were
referred

6. Introduction and Concept
• In the age of the human genome project:
– Our health care system must identify women at
high risk of breast and ovarian cancer and
manage them appropriately
– This will decrease the morbidity and mortality of
these diseases

7. Our solution
• We have developed a system that will
– allow the patient to enter her own data into a
database
– decrease the labor intensive effort required of
clinicians
• Automatic analysis
• Pedigree creation
• Thus
– Decrease labor for staff
– Decrease cost
– Increase volume of patients cared for
– Increase quality of care

8. HughesRiskApps modules follow a simple workflow
Patient data entry
Clinical Decision Support (CDS)
Printout with suggested actions
Clinician editing/enhancing
Clinical Decision Support (CDS)
Generate orders and documents

9. Large scale methods
• More high risk women identified
– Integration of effective FH into workflow
• More women cared for by the Risk Clinic
– Increased efficiency of risk counselor

10. Large scale methods
• More high risk women identified
– Integration of effective FH into workflow
• More women cared for by the Risk Clinic
– Increased efficiency of risk counselor

11. HughesRiskApps allows input to a central
database from multiple sources
Desktop
Website
iPad

12. iPad/Tablet PC Data Entry

13. Patient can enter her own data using a
simple iPad/Tablet PC interface
• Requiring little or no help from the staff,
patients enter their own data.
• ~5th
Grade Reading Level
• Available in English, Spanish and
Portuguese
Sample screenshots follow

15. Tablet questions available in Spanish

16. Tablet questions available in Portuguese

25. Data Entry via Website

26. Surgeon General Data Entry

27. Surgeon General Data Entry
• My Family Health Portrait allows
patients to enter family history data
– Data saved as an HL7 message
– Data saved to HealthVault via HL7

28. Data Entry via Website
Web interface available

29. Staff Data Entry Through Desktop
Interface

30. The staff can enter or edit patient data
using a simple Desktop interface

31. Clinical Decision Support
•Immediate actions
–BRCAPRO, Tyrer Cuzick
•Radiologist shown who is high risk
–Patient receives written guidance
•Letter suggesting they make an appt
•Information sheet
•Weekly
–Letter sent to patient and PCP

32. Large scale methods
• More high risk women identified
– Integration of FH into normal clinic workflow
• More women cared for by the Risk Clinic
– Increased efficiency of risk counselor

33. Next challenge:
• Minimize clinician work
• Minimize redundant data entry
• Minimize dictation and editing
Improve efficiency in the RiskImprove efficiency in the Risk
Clinic to manage the influx ofClinic to manage the influx of
patientspatients

34. Newton Wellesley Hospital Breast Center
4/1/2007 to 12/01/2010
49,758
unique
family
histories
Breast Center
Breast Imaging
2,255
referred
for counseling
≥10% risk
of mutation

35. Current Approach
Patient provides family history
Data into CAGENE
Data into Progeny
Assess risk level
Face to Face counseling
Letters/Notes generated

36. Current Approach
Patient provides family history 0 to 10 minutes
Data into CAGENE 5 to 10 minutes
Data into Progeny 10 to 20 minutes
Assess risk level 5 to 10 minutes
Face to Face counseling 30 to 60 minutes
Letters/Notes generated 20 to 40 minutes
70 to 150 minutes

37. RiskApps
Patient provides family history 0 minutes
Data into CAGENE 0 minutes
Data into Progeny 0 minutes
Assess risk level 5 minutes
Face to Face counseling 30 to 60 minutes
Letters/Notes generated 10 minutes
45 to 75 minutes

38. Patient enters more detailed family history
via a second level Tablet PC interface

39. Details about each family member are collected

45. Desktop Application for the
Risk Counselor

46. Data from Tablet available for review, editing and
enhancement by the risk counselor: table interface

47. Pedigree Interface

48. Additional risk factors are edited/enhanced

49. BRCA and other genetic test results can be easily recorded

50. Choose type of panel (Breast, colon,
cardiac, etc.) and the available test can be
selected

51. Choose panel

52. Choose mutation or type in

53. Counselor can link families seen before
to the current patient

54. Risk algorithms run
• Pedigree shows risk of mutation by
BRCAPRO run for each family member

55. BRCAPRO has been run for each relevant family
member, with the risk of mutation shown for each

56. Suggests what to do next (Test a relative)

57. Genetic Testing recommendations can be changed by the user

58. Suggests which relative to test in order of
likelihood of mutation

59. Myriad, Tyrer-Cuzick and BRCAPRO results are shown with the ability to use
the slider to set the clinician’s decision as to the risk of mutation

60. 60
Risk of breast cancer over time shown for each model

61. Lifetime risk of breast cancer shown if tested positive, or tests negative by BRCAPRO

62. Lifetime risk of ovarian cancer
Lifetime risk of ovarian cancer shown if tested positive, or tests negative by BRCAPRO

63. Switch perspective to consider the BRCA2 case

64. Gail model results are displayed

65. Claus model results are displayed

66. Myriad model results are displayed

67. Colorectal tab

70. PREMM Model

71. Clinical Decision support suggests
alternative syndromes in order of likelihood

72. Clinical Decision support shows
manifestations of selected syndrome

74. Buttons open specific OMIM Website and
Genetests Website

75. Find all mutation carriers
Selective
Testing
Cascade Testing of
family members
Mutation
Found

76. Cascade testing of relatives of
mutation positive patients
• Help document the testing of family
members
• Shows number tested vs number of
living relatives age 18 or older with a
mutation risk of 10% or greater

78. Generates multiple documents, saving
time on dictation and cost of transcription
• Letter to referring doctor
• Letter to the patient
• Progress note for chart
• Letter to relatives who need testing
• Letter of Medical Necessity for
insurance company
– Justify genetic testing
– Justify MRI

79. Letter to the patient

82. Letter for patient to give to her
relative who needs testing

83. Letter to relative includes list of
testing centers in her area

85. Letter to the referring doctor

89. Reports generated at the click of a button

90. HughesRiskApps complies with
the HL7 standard
• Data can be shared with any HL7
compliant software
• Data can be uploaded or downloaded
to any EHR that has a complete family
history section and that is HL7
compliant
– None currently exist but EHR vendors are
likely to improve their product to this level
soon

91. HughesRiskApps can help move us
into the Genomic Age on a population
level
• More high risk women identified
– Integration of FH into normal clinic workflow
• More women cared for by the Risk Clinic
– Increased efficiency of risk counselor

92. References
• Scheuner 2004 AmJMedGenSeminars Contribution Of Mendelian Disorders To Common
Chronic Disease
•
• Hughes KS, Roche CA, Campbell CT, Siegel N, Salisbury L, Chekos A, Katz MS, Edell E.
Prevalence of Family History of Breast and Ovarian Cancer in a Single Primary Care Practice
Using a Self-Administered Questionnaire. The Breast Journal 9: 19-25.
•
• Jones JL, Hughes KS, Howard-McNatt M, Kopans DB, Moore RH, Hughes SS, Lee NY, Roche
CA, Siegel N, Gadd MA, Smith BL, Michaelson JS. Evaluation of Hereditary Risk in a Screening
Mammography Population. Clinical Breast Cancer 6(1): 38-44.
•
• Shabo A and Hughes, KS. Family History Information Exchange Services Using HL7 Clinical
Genomics Standard Specifications. Int'l Journal on Semantic Web & Information Systems 1(4):
42-65
•
• Dominguez FJ, Jones JL, Zabicki K, Smith BL, Gadd MA, Specht MC, Kopans DB, Moore RH,
Michaelson JS, Hughes KS. Prevalence of Hereditary Breast/Ovarian Cancer Risk in Patients
with a Personal History of Breast or Ovarian Cancer in a Mammography Population Cancer
2005; 104: 1849-53.
• Dominguez FJ, Lawrence C, Halpern EF, Drohan B, Grinstein G, Black DM, Smith BL, Gadd
MA, Specht MC, Kopans DB, Moore RH, Hughes SS, Roche CA, Hughes KS. Accuracy of Self-
Reported Personal History of Cancer in an Outpatient Breast Center. J Gen Counseling, 2007