assessing risks for families with inherited cancers: an introduction to a new system kevin hughes,...
TRANSCRIPT
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Assessing Risks for families with inherited cancers: an
introduction to a new system
Kevin Hughes, MD
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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)
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Adult hereditary syndromes: 188
Scheuner (Am J Med Gen, 2004)
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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
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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
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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
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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
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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
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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
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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
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HughesRiskApps allows input to a central database from multiple sources
DesktopWebsite
iPad
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iPad/Tablet PC Data Entry
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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
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Tablet questions available in Spanish
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Data Entry via Website
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Surgeon General Data Entry
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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
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Data Entry via Website
Web interface in development for patient data entry from home
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Staff Data Entry Through Desktop Interface
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The staff can enter or edit patient data using a simple Desktop interface
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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
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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
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Next challenge:
• Minimize clinician work
• Minimize redundant data entry
• Minimize dictation and editing
Improve efficiency in the Risk Improve efficiency in the Risk Clinic to manage the influx of Clinic to manage the influx of patientspatients
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Newton Wellesley Hospital Breast Center
4/1/2007 to 12/01/2010
49,758 unique family histories
Breast Center
Breast Imaging
2,255referred
for counseling
≥10% risk of mutation
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Current ApproachPatient provides family history
Data into CAGENE
Data into Progeny
Assess risk level
Face to Face counseling
Letters/Notes generatedRisk Clinic/Genetic Counselor Time
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Current ApproachPatient 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
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RiskAppsPatient 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
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Patient enters more detailed family history via a second level Tablet PC interface
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Details about each family member are collected
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Cancers are asked similar to the standard tablet
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Desktop Application for the Risk Counselor
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Data from Tablet available for review, editing and enhancement by the risk counselor:Table interface
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Pedigree Interface
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Additional risk factors are edited/enhanced
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BRCA and other genetic test results can be easily recorded
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Choose type of panel (Breast, colon, cardiac, etc.) and the available test
can be selected
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Testing of other genes (Cardiac shown here)by groups makes useful for any genetics clinic
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Counselor can link families seen before to the current patient
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Risk algorithms run
• Graphs show BRCAPRO run multiple times for the same family using different parameters
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BRCAPRO has been run for each relevant family member, with the risk of mutation shown for each
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Genetic Testing recommendations are made
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Genetic Testing recommendations are made
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Myriad and BRCAPRO results are shown with the ability to use the slider to set the clinician’s decision as to the risk of mutation
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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.
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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
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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
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Switch perspective to consider the BRCA2 case
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Gail model results are displayed
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Claus model results are displayed
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Myriad model results are displayed
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Colorectal tab
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PREMM Model
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Clinical Decision support suggests alternative syndromes in order of liklihood
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Clinical Decision support shows manifestations of selected syndrome
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DoubleClick on syndrome opens specific OMIM Website and Genetests Website
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RightClick on syndrome opens specific OMIM Website and Genetests Website
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RightClick on syndrome opens both OMIM Website and Genetests Website
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Find all mutation carriers
Selective Testing
Cascade Testing of family members
Mutation Found
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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
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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
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Letter to the patient
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Letter for patient to give to her relative who needs testing
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Letter to relative includes list of testing centers in her area
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Letter to the referring doctor
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Report generated at the click of a button
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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
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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
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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