Title: Assessing Risks for families with inherited cancers: an introduction to a new system
1Assessing Risks for families with inherited
cancers an introduction to a new system
2OMIM 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)
3Adult hereditary syndromes 188
Scheuner (Am J Med Gen, 2004)
413 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
5Problems to solve
- Most high risk women are not being identified or
referred for couseling - Our Risk Clinics could not manage the volume if
all high risk women were referred
6Introduction 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
7Our 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
8HughesRiskApps 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
9Large 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
10Large 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
11HughesRiskApps allows input to a central database
from multiple sources
Website
Desktop
iPad
12iPad/Tablet PC Data Entry
13Patient 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 Italian
- Sample screenshots follow
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15Tablet questions available in Spanish
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24Data Entry via Website
25Surgeon General Data Entry
26Surgeon 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
27Data Entry via Website
Web interface in development for patient data
entry from home
28Staff Data Entry Through Desktop Interface
29The staff can enter or edit patient data using a
simple Desktop interface
30Clinical Decision Support
- Immediate actions
- BRCAPRO
- 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
31Large 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
32Next challenge
Improve efficiency in the Risk Clinic to manage
the influx of patients
- Minimize clinician work
- Minimize redundant data entry
- Minimize dictation and editing
33Newton Wellesley Hospital Breast Center 4/1/2007
to 12/01/2010
Breast Imaging
10 risk of mutation
2,255 referred for counseling
49,758 unique family histories
Breast Center
34Current Approach
35Current Approach
70 to 150 minutes
36RiskApps
45 to 75 minutes
37Patient enters more detailed family history via a
second level Tablet PC interface
38Details about each family member are collected
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42Cancers are asked similar to the standard tablet
43Desktop Application for the Risk Counselor
44Data from Tablet available for review, editing
and enhancement by the risk counselorTable
interface
45Pedigree Interface
46Additional risk factors are edited/enhanced
47BRCA and other genetic test results can be easily
recorded
48Choose type of panel (Breast, colon, cardiac,
etc.) and the available test can be selected
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50Testing of other genes (Cardiac shown here)by
groups makes useful for any genetics clinic
51Counselor can link families seen before to the
current patient
52Risk algorithms run
- Graphs show BRCAPRO run multiple times for the
same family using different parameters
53BRCAPRO has been run for each relevant family
member, with the risk of mutation shown for each
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55Genetic Testing recommendations are made
56Genetic Testing recommendations are made
57Myriad and BRCAPRO results are shown with the
ability to use the slider to set the clinicians
decision as to the risk of mutation
58Right bottom side of the screen, family members
are listed in order of likelihood of mutation.
The willingness of each to be tested can be
recorded.
59Lifetime risk of breast cancer and the management
suggestions are shown for multiple scenarios
without testing (Current synthesis), as if the
patient tested positive, as if the patient tested
negative and the population risk
60Lifetime risk of ovarian cancer and the
management suggestions are shown for multiple
scenarios without testing (Current synthesis),
as if the patient tested positive, as if the
patient tested negative and the population risk
Lifetime risk of ovarian cancer
61Switch perspective to consider the BRCA2 case
62Gail model results are displayed
63Claus model results are displayed
64Myriad model results are displayed
65Colorectal tab
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69PREMM Model
70Clinical Decision support suggests alternative
syndromes in order of liklihood
71Clinical Decision support shows manifestations of
selected syndrome
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73DoubleClick on syndrome opens specific OMIM
Website and Genetests Website
74RightClick on syndrome opens specific OMIM
Website and Genetests Website
75RightClick on syndrome opens both OMIM Website
and Genetests Website
76Find all mutation carriers
Mutation Found
Selective Testing
Cascade Testing of family members
77Cascade 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
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79Generates 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 gentic testing
- Justify MRI
80Letter to the patient
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83Letter for patient to give to her relative who
needs testing
84Letter to relative includes list of testing
centers in her area
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86Letter to the referring doctor
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90Report generated at the click of a button
91HughesRiskApps 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
92HughesRiskApps 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
93References
- 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