assessing risks for families with inherited cancers an introduction to a new system l.
Download
Skip this Video
Loading SlideShow in 5 Seconds..
Assessing Risks for families with inherited cancers: an introduction to a new system PowerPoint Presentation
Download Presentation
Assessing Risks for families with inherited cancers: an introduction to a new system

Loading in 2 Seconds...

play fullscreen
1 / 96

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


  • 82 Views
  • Uploaded on

Assessing Risks for families with inherited cancers: an introduction to a new system. Kevin Hughes, MD. OMIM: Online Mendelian Inheritance in Man. 188 adult hereditary syndromes Syndromes with at least 1 adult chronic disease Benign 153 Cancer 32

loader
I am the owner, or an agent authorized to act on behalf of the owner, of the copyrighted work described.
capcha
Download Presentation

PowerPoint Slideshow about 'Assessing Risks for families with inherited cancers: an introduction to a new system' - edalene


An Image/Link below is provided (as is) to download presentation

Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.


- - - - - - - - - - - - - - - - - - - - - - - - - - E N D - - - - - - - - - - - - - - - - - - - - - - - - - -
Presentation Transcript
assessing risks for families with inherited cancers an introduction to a new system

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

Kevin Hughes, MD

omim online mendelian inheritance in man
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)
slide3

Adult hereditary syndromes: 188

  • Scheuner (Am J Med Gen, 2004)
13 years of genetic testing
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

problems to solve
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
introduction and concept
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
our solution
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
hughesriskapps modules follow a simple workflow
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

large scale methods
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
large scale methods10
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
patient can enter her own data using a simple ipad tablet pc interface
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

surgeon general data entry27
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
slide28

Data Entry via Website

Web interface in development for patient data entry from home

clinical decision support

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

large scale methods32
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
next challenge
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
newton wellesley hospital breast center 4 1 2007 to 12 01 2010
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

current approach36
Current Approach

70 to 150 minutes

riskapps
RiskApps

45 to 75 minutes

data from tablet available for review editing and enhancement by the risk counselor table interface
Data from Tablet available for review, editing and enhancement by the risk counselor:Table interface
risk algorithms run
Risk algorithms run
  • Graphs show BRCAPRO run multiple times for the same family using different parameters
slide60

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

slide61

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.

slide62

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

slide63

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

find all mutation carriers
Find all mutation carriers

Mutation Found

Selective Testing

Cascade Testing of family members

cascade testing of relatives of mutation positive patients
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
generates multiple documents saving time on dictation and cost of transcription
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
hughesriskapps complies with the hl7 standard
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
hughesriskapps can help move us into the genomic age on a population level
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
references
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