Assessing Risks for families with inherited cancers: an introduction to a new system - PowerPoint PPT Presentation

About This Presentation
Title:

Assessing Risks for families with inherited cancers: an introduction to a new system

Description:

Assessing Risks for families with inherited cancers: an introduction to a new system Kevin Hughes, MD Tablet questions available in Spanish Cancers are asked similar ... – PowerPoint PPT presentation

Number of Views:272
Avg rating:3.0/5.0
Slides: 94
Provided by: KevinS89
Category:

less

Transcript and Presenter's Notes

Title: Assessing Risks for families with inherited cancers: an introduction to a new system


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 couseling
  • 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
Website
Desktop
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 Italian
  • Sample screenshots follow

14
(No Transcript)
15
Tablet questions available in Spanish
16
(No Transcript)
17
(No Transcript)
18
(No Transcript)
19
(No Transcript)
20
(No Transcript)
21
(No Transcript)
22
(No Transcript)
23
(No Transcript)
24
Data Entry via Website
25
Surgeon General Data Entry
26
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

27
Data Entry via Website
Web interface in development for patient data
entry from home
28
Staff Data Entry Through Desktop Interface
29
The staff can enter or edit patient data using a
simple Desktop interface
30
Clinical 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

31
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

32
Next challenge
Improve efficiency in the Risk Clinic to manage
the influx of patients
  • Minimize clinician work
  • Minimize redundant data entry
  • Minimize dictation and editing

33
Newton 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
34
Current Approach
35
Current Approach
70 to 150 minutes
36
RiskApps
45 to 75 minutes
37
Patient enters more detailed family history via a
second level Tablet PC interface
38
Details about each family member are collected
39
(No Transcript)
40
(No Transcript)
41
(No Transcript)
42
Cancers are asked similar to the standard tablet
43
Desktop Application for the Risk Counselor
44
Data from Tablet available for review, editing
and enhancement by the risk counselorTable
interface
45
Pedigree Interface
46
Additional risk factors are edited/enhanced
47
BRCA and other genetic test results can be easily
recorded
48
Choose type of panel (Breast, colon, cardiac,
etc.) and the available test can be selected
49
(No Transcript)
50
Testing of other genes (Cardiac shown here)by
groups makes useful for any genetics clinic
51
Counselor can link families seen before to the
current patient
52
Risk algorithms run
  • Graphs show BRCAPRO run multiple times for the
    same family using different parameters

53
BRCAPRO has been run for each relevant family
member, with the risk of mutation shown for each
54
(No Transcript)
55
Genetic Testing recommendations are made
56
Genetic Testing recommendations are made
57
Myriad and BRCAPRO results are shown with the
ability to use the slider to set the clinicians
decision as to the risk of mutation
58
Right 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.
59
Lifetime 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
60
Lifetime 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
61
Switch perspective to consider the BRCA2 case
62
Gail model results are displayed
63
Claus model results are displayed
64
Myriad model results are displayed
65
Colorectal tab
66
(No Transcript)
67
(No Transcript)
68
(No Transcript)
69
PREMM Model
70
Clinical Decision support suggests alternative
syndromes in order of liklihood
71
Clinical Decision support shows manifestations of
selected syndrome
72
(No Transcript)
73
DoubleClick on syndrome opens specific OMIM
Website and Genetests Website
74
RightClick on syndrome opens specific OMIM
Website and Genetests Website
75
RightClick on syndrome opens both OMIM Website
and Genetests Website
76
Find all mutation carriers
Mutation Found
Selective Testing
Cascade Testing of family members
77
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
(No Transcript)
79
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 gentic testing
  • Justify MRI

80
Letter to the patient
81
(No Transcript)
82
(No Transcript)
83
Letter for patient to give to her relative who
needs testing
84
Letter to relative includes list of testing
centers in her area
85
(No Transcript)
86
Letter to the referring doctor
87
(No Transcript)
88
(No Transcript)
89
(No Transcript)
90
Report generated at the click of a button
91
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

92
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

93
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
Write a Comment
User Comments (0)
About PowerShow.com