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How to set up a high risk clinic. Kevin S.Hughes, MD, FACS Co-Director, Avon Comprehensive Breast Evaluation Center Massachusetts General Hospital Surgeon The Newton-Wellesley Hospital Breast Center. Problems to solve. Most high risk women not identified

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How to set up a high risk clinic

How to set up a high risk clinic

Kevin S.Hughes, MD, FACS

Co-Director, Avon Comprehensive Breast Evaluation Center

Massachusetts General Hospital

Surgeon

The Newton-Wellesley Hospital Breast Center


Problems to solve
Problems to solve

  • Most high risk women not identified

  • If identified, Risk Clinics could not manage the volume



Find 400 000 mutation carriers
Find 400,000 mutation carriers

  • Genetic testing is 10% positive

    • Test 4,000,000 to find 400,000


Find 400 000 mutation carriers1
Find 400,000 mutation carriers

  • Genetic testing is 10% positive

    • Test 4,000,000 to find 400,000

      • Test 38% of patients you see

        See 10,526,316, test 4,000,000, find 400,000


Find 400 000 mutation carriers2
Find 400,000 mutation carriers

  • Genetic testing is 10% positive

    • Test 4,000,000 to find 400,000

      • Test 38% of patients you see

        See 10,526,316, test 4,000,000, find 400,000

        1 hour to counsel & not test

        4 hours to counsel & test

        10,955 person years


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




If mutation is found find all positive family members
If mutation is found-Find all positive family members

Mutation Found

Selective Testing

Cascade Testing of family members



Problems to solve1
Problems to solve

  • Most high risk women not identified

  • If identified, Risk Clinics could not manage the volume

    Information Technology can help solve these problems


Memory based medicine
Memory-Based Medicine

 “Current medical practice relies heavily on the unaided mind to recall a great amount of detailed knowledge” 

Crane, Raymond, The Permanente Journal 7:62, 2003


Our goal

Our Goal

Find every mutation carrier for every hereditary syndrome known to man before disease occurs


Adult hereditary syndromes: 188

  • Scheuner (Am J Med Gen, 2004)


Find all mutation carriers

Family history & selective testing

Population based genetic testing


Find all mutation carriers

Family history & selective testing

Population based genetic testing

Adult syndromes

Newborn screening


CANCER

SPORADIC

HEREDITARY

CANCER

Hereditary vs Sporadic Cancer

Knudson’s 2 hit hypothesis


Family history

Multiple relatives affected

Young age at diagnosis

Multiple primary cancers

Unusual Cancer

Male breast cancer


Nccn practice guidelines 2005
NCCN Practice Guidelines (2005)

  • 2. Personal history of breast cancer plus one or more of the following:

    • a) Diagnosed under 40 years, with or without family history

    • b) Diagnosed under 50 years, or bilateral, with at least one close blood relative with breast cancer diagnosed under 50 years or at least one close blood relative with ovarian cancer

    • c) Diagnosed at any age, with at least two close blood relatives with ovarian cancer at any age

    • d) Diagnosed at any age with breast cancer with at least two close* blood relatives with breast cancer, especially if at least one is diagnosed before age 50 years or has bilateral

    • disease

    • e) Close male blood relative has breast cancer

    • f) Personal history of ovarian cancer

    • g) Is of ethnic descent associated with deleterious mutations (e.g., Ashkenazi Jewish)

  • 1. Member of a family with a known BRCA1/BRCA2 mutation

  • 2. Personal history of breast cancer plus one or more of the following:

    • a) Diagnosed 40 years, with or without family history

    • b) Diagnosed 50 years, or bilateral, with at least one close blood relative with breast cancer diagnosed 50 years or at least one close blood relative with ovarian cancer

    • c) Diagnosed at any age, with at least two close blood relatives with ovarian cancer at any age

    • d) Diagnosed at any age with breast cancer with at least two close* blood relatives with breast cancer, especially if at least one is diagnosed before age 50 years or has bilateral

    • disease

    • e) Close male blood relative has breast cancer

    • f) Personal history of ovarian cancer

    • g) Is of ethnic descent associated with deleterious mutations (e.g., Ashkenazi Jewish)

  • 3. Personal history of ovarian cancer plus one or more of the following:

    • a) At least one close* blood relative with ovarian cancer

    • b) At least one close* female blood relative with breast cancer

    • at age 50 years or bilateral breast cancer

    • c) At least two close* blood relatives with breast cancer

    • d) At least one close* male blood relative with breast cancer

    • e) Is of Ashkenazi Jewish descent

  • 4. Personal history of male breast cancer plus one or more of the following:

    • a) At least one close male blood relative with breast cancer

    • b) At least one close female blood relative with breast or ovarian cancer

    • c) Ashkenazi Jewish descent

  • 5. Family history only: close family member (on the same side of the family) meeting any of the above criteria




Software
Software

  • CancerGene (Euhus)

  • HughesRiskApps.com


Hughesriskapps com
HughesRiskApps.com

Patient enters data into Tablet PC

or iPad

Patient educational materials

Clinical Decision Support

Reviews Report & Pedigree

Reviews suggested

management

Orders Genetic Testing




Newton wellesley hospital since 4 2007
Newton Wellesley HospitalSince 4/2007

  • 49758 unique patients

  • 2255 (4.5%) mutation risk 10% or greater




Brca tests myriad genetics
BRCA tests: Myriad Genetics

~500,000

Ordered by ~40,000 providers

Courtesy of Myriad Genetics


15 years of genetic testing
15 years of genetic testing

  • Assume 10% positive

    • 50,000 BRCA1/2 carriers found

      • 5% of all carriers

  • Assume most tested patients had cancer

    • 95 to 99% of unaffected carriers not tested

  • Likely the best of any adult hereditary syndrome


Our goal1

Our Goal

Find every mutation carrier for every hereditary syndrome known to man before disease occurs

HughesRiskApps.com


National health interview surveys 2000 2005 35 116 unaffected women
National Health Interview Surveys 2000 & 200535,116 unaffected women

0.96% high risk for hereditary breast/ovarian cancer

  • 54% aware of genetic testing

    • 10.4% had discussed genetic testing with Clinician

      1.4% had undergone genetic testing

Levy et al. Guidelines for Genetic Risk Assessment of Hereditary Breast and Ovarian Cancer: Early Disagreements and Low Utilization. J Gen Int Med


Primary care provider
Primary Care Provider

  • Know 188 syndromes

  • Know Models to quantitate risk

  • Know guidelines for who to refer



Nccn practice guidelines 20051
NCCN Practice Guidelines (2005)

  • 2. Personal history of breast cancer plus one or more of the following:

    • a) Diagnosed under 40 years, with or without family history

    • b) Diagnosed under 50 years, or bilateral, with at least one close blood relative with breast cancer diagnosed under 50 years or at least one close blood relative with ovarian cancer

    • c) Diagnosed at any age, with at least two close blood relatives with ovarian cancer at any age

    • d) Diagnosed at any age with breast cancer with at least two close* blood relatives with breast cancer, especially if at least one is diagnosed before age 50 years or has bilateral

    • disease

    • e) Close male blood relative has breast cancer

    • f) Personal history of ovarian cancer

    • g) Is of ethnic descent associated with deleterious mutations (e.g., Ashkenazi Jewish)

  • 1. Member of a family with a known BRCA1/BRCA2 mutation

  • 2. Personal history of breast cancer plus one or more of the following:

    • a) Diagnosed 40 years, with or without family history

    • b) Diagnosed 50 years, or bilateral, with at least one close blood relative with breast cancer diagnosed 50 years or at least one close blood relative with ovarian cancer

    • c) Diagnosed at any age, with at least two close blood relatives with ovarian cancer at any age

    • d) Diagnosed at any age with breast cancer with at least two close* blood relatives with breast cancer, especially if at least one is diagnosed before age 50 years or has bilateral

    • disease

    • e) Close male blood relative has breast cancer

    • f) Personal history of ovarian cancer

    • g) Is of ethnic descent associated with deleterious mutations (e.g., Ashkenazi Jewish)

  • 3. Personal history of ovarian cancer plus one or more of the following:

    • a) At least one close* blood relative with ovarian cancer

    • b) At least one close* female blood relative with breast cancer

    • at age 50 years or bilateral breast cancer

    • c) At least two close* blood relatives with breast cancer

    • d) At least one close* male blood relative with breast cancer

    • e) Is of Ashkenazi Jewish descent

  • 4. Personal history of male breast cancer plus one or more of the following:

    • a) At least one close male blood relative with breast cancer

    • b) At least one close female blood relative with breast or ovarian cancer

    • c) Ashkenazi Jewish descent

  • 5. Family history only: close family member (on the same side of the family) meeting any of the above criteria


Currently paper memory
Currently: Paper + memory

Patient completes paper form

Reviews data using memory of guidelines

Orders Genetic Testing


Ehr paper extra work memory
EHR: Paper + extra work + memory

Patient completes paper form

Staff enters data into the EHR

Reviews data using memory of guidelines

Orders Genetic Testing



Today s ehr1
Today’s EHR

Click open 4 screens

BRCA1 Positive



Clinical decision support cds

Clinical Decision Support (CDS)

Apply Algorithms/Guidelines to patient data

Identify best course of action

Results displayed as intuitive Visualizations

BRCAPRO Mutation Risk 25%

Suggest Genetic Testing

CDS

Facilitates best action as part of workflow


Clinical decision support cds1

Clinical Decision Support (CDS)

Apply Algorithms/Guidelines to patient data

Identify best course of action

Results displayed as intuitive Visualizations

BRCAPRO Mutation Risk 25%

Suggest Genetic Testing

CDS

Facilitates best action as part of workflow


Less work cds higher quality
Less work + CDS=Higher Quality

Patient enters data into Tablet PC

Patient educational materials

Clinical Decision Support

Reviews Report & Pedigree

Reviews suggested

management

Orders Genetic Testing


Conclusions
Conclusions

  • Find high risk patients before they develop cancer

  • Software that can help

    • CancerGene

    • HughesRiskApps.com

HughesRiskApps.com


Prior to genetic testing

PRIOR TO GENETIC TESTING

MUTATED

NORMAL

NORMAL

NORMAL

50%

50%


Genetic testing

GENETIC TESTING

MUTATED

NORMAL

NORMAL

NORMAL

NORMAL

MUTATED

NORMAL

NORMAL

50-87%

11%


Conclusions1
Conclusions

  • Find high risk patients before they develop cancer

  • Software that can help

    • CancerGene

    • HughesRiskApps.com

HughesRiskApps.com


Cancer risk
Cancer Risk

BRCA1BRCA2

F

e

m

a

l

e

M

a

l

e

Breast 63% 55%

Ovary 58% 30%

Breast 6%

BRCAPRO


Nwh 26 000 family histories
NWH: 26,000 Family Histories


Family history

Multiple relatives affected

Young age at diagnosis

Multiple primary cancers

Unusual Cancer

Male breast cancer


Standard genetics lecture

End here…

With a plea that you go out and find these patients


Us population
US population

Census, 2000



Brca1 2 mutation carriers in the us females 20 and above
BRCA1/2 Mutation carriers in the USFemales 20 and above

Close to 350,000 carriers 20 and older


Brca tests myriad genetics1
BRCA tests: Myriad Genetics

~500,000

Ordered by ~40,000 providers

Courtesy of Myriad Genetics


14 years of genetic testing
14 years of genetic testing

~50,000 BRCA1/2 carriers found

Likely the best of any adult hereditary syndrome


National health interview surveys 2000 2005 35 116 unaffected women1
National Health Interview Surveys 2000 & 200535,116 unaffected women

0.96% high risk for hereditary breast/ovarian cancer

  • 54% aware of genetic testing

    • 10.4% had discussed genetic testing with Clinician

      1.4% had undergone genetic testing

Levy et al. Guidelines for Genetic Risk Assessment of Hereditary Breast and Ovarian Cancer: Early Disagreements and Low Utilization. J Gen Int Med


Primary care provider1
Primary Care Provider

  • Know 188 syndromes

  • Know Models to quantitate risk

  • Know guidelines for who to refer



Nccn practice guidelines 20052
NCCN Practice Guidelines (2005)

  • 2. Personal history of breast cancer plus one or more of the following:

    • a) Diagnosed under 40 years, with or without family history

    • b) Diagnosed under 50 years, or bilateral, with at least one close blood relative with breast cancer diagnosed under 50 years or at least one close blood relative with ovarian cancer

    • c) Diagnosed at any age, with at least two close blood relatives with ovarian cancer at any age

    • d) Diagnosed at any age with breast cancer with at least two close* blood relatives with breast cancer, especially if at least one is diagnosed before age 50 years or has bilateral

    • disease

    • e) Close male blood relative has breast cancer

    • f) Personal history of ovarian cancer

    • g) Is of ethnic descent associated with deleterious mutations (e.g., Ashkenazi Jewish)

  • 1. Member of a family with a known BRCA1/BRCA2 mutation

  • 2. Personal history of breast cancer plus one or more of the following:

    • a) Diagnosed 40 years, with or without family history

    • b) Diagnosed 50 years, or bilateral, with at least one close blood relative with breast cancer diagnosed 50 years or at least one close blood relative with ovarian cancer

    • c) Diagnosed at any age, with at least two close blood relatives with ovarian cancer at any age

    • d) Diagnosed at any age with breast cancer with at least two close* blood relatives with breast cancer, especially if at least one is diagnosed before age 50 years or has bilateral

    • disease

    • e) Close male blood relative has breast cancer

    • f) Personal history of ovarian cancer

    • g) Is of ethnic descent associated with deleterious mutations (e.g., Ashkenazi Jewish)

  • 3. Personal history of ovarian cancer plus one or more of the following:

    • a) At least one close* blood relative with ovarian cancer

    • b) At least one close* female blood relative with breast cancer

    • at age 50 years or bilateral breast cancer

    • c) At least two close* blood relatives with breast cancer

    • d) At least one close* male blood relative with breast cancer

    • e) Is of Ashkenazi Jewish descent

  • 4. Personal history of male breast cancer plus one or more of the following:

    • a) At least one close male blood relative with breast cancer

    • b) At least one close female blood relative with breast or ovarian cancer

    • c) Ashkenazi Jewish descent

  • 5. Family history only: close family member (on the same side of the family) meeting any of the above criteria


Currently paper memory1
Currently: Paper + memory

Patient completes paper form

Reviews data using memory of guidelines

Orders Genetic Testing


Ehr paper extra work memory1
EHR: Paper + extra work + memory

Patient completes paper form

Staff enters data into the EHR

Reviews data using memory of guidelines

Orders Genetic Testing



Today s ehr4
Today’s EHR

Click open 4 screens

BRCA1 Positive



Clinical decision support cds2

Clinical Decision Support (CDS)

Apply Algorithms/Guidelines to patient data

Identify best course of action

Results displayed as intuitive Visualizations

BRCAPRO Mutation Risk 25%

Suggest Genetic Testing

CDS

Facilitates best action as part of workflow


Clinical decision support cds3

Clinical Decision Support (CDS)

Apply Algorithms/Guidelines to patient data

Identify best course of action

Results displayed as intuitive Visualizations

BRCAPRO Mutation Risk 25%

Suggest Genetic Testing

CDS

Facilitates best action as part of workflow


Less work cds higher quality1
Less work + CDS=Higher Quality

Patient enters data into Tablet PC

Patient educational materials

Clinical Decision Support

Reviews Report & Pedigree

Reviews suggested

management

Orders Genetic Testing


Large scale methods
Large scale methods

  • More high risk women identified

  • More women cared for by the Risk Clinic


Tablet pc
Tablet PC

  • Patients enter their own data

  • Little or no help from the staff

  • 5th Grade Reading Level

  • English, Spanish and Italian




What if this works
What if this works?

  • Genetic testing is 10% positive

    • Test 4,000,000 to find 400,000

      • Test 38% of patients you see

        See 10,526,316, test 4,000,000, find 400,000

        1 hour to counsel & not test

        4 hours to counsel & test

        10,955 person years


Health it
Health IT

  • EHR

    • Designed to manage the entire spectrum of medical care

      • Created by large corporations

  • ‘Niche’ Software

    • Designed for specialty areas

      • Homegrown or developed by small vendors



Mamamare foundation the personal health record
Mamamare FoundationThe Personal Health Record

Specifically for hereditary cancer

Information and resources

Risk calculations

Allows participation in research


Health it and clinical care
Health IT and Clinical Care

  • EHR

  • ‘Niche’ Software


EHRs are limited to major areas

Notes

Allergies

Path Reports

Problem

List

Meds

Lab


Adding new features for small markets is expensive

Notes

Genetics

ӨPedigree

Allergies

ΘFamily History

Path Reports

Risk

Problem

List

Meds

Lab



Ehrs and niche software
EHRs and Niche Software

Wait for the EHR to do thisNiche software is not neededEHR should not exchange data with Niche Software


Adequate FH Structure

Pedigree

Patient data entry

CDS…

YEARS AWAY


Conclusions2
Conclusions

  • Start the process of finding every mutation carrier for every syndrome known to man

  • Tell your EHR vendor that they need CDS

    • A good family history section

    • Pedigree drawing

    • Risk algorithms

      Or

  • Tell EHR vendor to allow modular software


The American Health Information Community (AHIC) Personalized Health Care Workgroup Recommendations to Secretary 2007

… Modular family history tool

… collection of family health history within the EHR…messaging of … information to a variety of richer … tools that perform risk analyses… results of … calculations … returned to the EHR … curation


Niche/Modular Software Personalized Health Care Workgroup

Innovative approaches to data entry

Patient data entry

Clinician data interface

Innovative approaches to CDS

Risk Algorithms/Guidelines

Visualization appropriate to user

Pedigree drawing

EHR as a repository

Core data set

Interoperable

Testing and iteration possible


  • EHRs as data repositories Personalized Health Care Workgroup

    • Adopt core data set

    • Adopt standards for interoperability with niche software

  • Patient data entry facilitated

    • PHR, Web, Kiosk, Tablet systems

  • Genetic Testing Labs transmit structured data

    • Adopt standards for interoperability

  • Niche software

    • Test and refine FH collection, analysis and display

  • CDS as web services

  • Knowledge bases, guidelines as web services

    • machine readable, maintained by specialty bodies


Find 400 000 mutation carriers3
Find 400,000 mutation carriers Personalized Health Care Workgroup

  • Genetic testing is 10% positive

    • Test 4,000,000 to find 400,000

      • Test 38% of patients you see

        See 10,526,316, test 4,000,000, find 400,000

        1 hour to counsel & not test

        4 hours to counsel & test

        10,955 person years


The challenge
The Challenge Personalized Health Care Workgroup

  • ~292,000 breast and ovarian cancers

    • 5-10 % hereditary

    • 14,600 to 29,200 cases this year

      Most were not identified before they had cancer

      Identification of high risk today is where mammography was in the 1970’s

CA Cancer J Clin 2005;55:10–30


Mammography in the 1970 s
Mammography in the 1970’s Personalized Health Care Workgroup

Patient presents with obvious cancer


Mammography in the 1970 s1
Mammography in the 1970’s Personalized Health Care Workgroup

Patient presents with obvious cancer

Mammogram shows obvious cancer

Minimal impact on population health


Mammography today
Mammography today Personalized Health Care Workgroup

Millions of screening mammograms

Tens of thousands of subclinical cancers identified

Major impact on population health


Risk identification today
Risk identification today Personalized Health Care Workgroup

Age 35 presents with obvious cancer


Risk identification today1
Risk identification today Personalized Health Care Workgroup

Age 35 presents with obvious cancer

Pedigree shows obvious hereditary syndrome

Minimal impact on population health


Risk assessment tomorrow
Risk Assessment Tomorrow Personalized Health Care Workgroup

Millions of family histories collected and assessed

Hundreds of thousands of high risk patients identified

Tens of thousands of cancers prevented or found earlier

Major impact on population health


Online mendelian inheritance in man encyclopedia of all genetic syndromes
Online Mendelian Inheritance in Man Personalized Health Care Workgroup Encyclopedia of all genetic syndromes


Memory based medicine1
Memory-Based Medicine Personalized Health Care Workgroup

 “Current medical practice relies heavily on the unaided mind to recall a great amount of detailed knowledge” 

Crane, Raymond, The Permanente Journal 7:62, 2003


Module Personalized Health Care Workgroup


Find 400 000 mutation carriers4
Find 400,000 mutation carriers Personalized Health Care Workgroup

  • Genetic testing is 10% positive

    • Test 4,000,000 to find 400,000

      • Test 38% of patients you see

        See 10,526,316, test 4,000,000, find 400,000

        1 hour to counsel & not test

        4 hours to counsel & test

        10,955 person years


To id high risk
To ID High Risk Personalized Health Care Workgroup


To id high risk1
To ID High Risk Personalized Health Care Workgroup


To id high risk2
To ID High Risk Personalized Health Care Workgroup


Adenomatous polyposis syndromes
Adenomatous Personalized Health Care Workgroup Polyposis Syndromes


Tumor suppressor gene
Tumor suppressor gene Personalized Health Care Workgroup

Product of the gene helps prevent the development of cancer


Normal Breast Cell Personalized Health Care Workgroup

Chromosome 17Normal BRCA1

Chromosome 17Normal BRCA1

Functioning Protein

Functioning Protein


Breast Cell with Personalized Health Care Workgroup BRCA1 Mutation

Chromosome 17Normal BRCA1

Chromosome 17Mutated BRCA1

Non-functioningProtein

Functioning Protein


Normal Gene Lost Personalized Health Care Workgroup Cancer Not Prevented

Chromosome 17Normal BRCA1Lost

Chromosome 17Mutated BRCA1

Non-functioningProtein


CANCER Personalized Health Care Workgroup

SPORADIC

HEREDITARY

CANCER

Hereditary vs Sporadic Cancer

Knudson’s 2 hit hypothesis


Lynch syndrome increases colorectal cancer risk
Lynch Syndrome Increases Personalized Health Care Workgroup Colorectal Cancer Risk

Up to 80%

Risk of Cancer (%)

>25%

0.3%

2%

Statistics in Medicine 2003;22:1837-48

Gastroenterology 1996;110:1020-7

Int J Cancer 1999;81:214-8


Lynch syndrome increases gynecologic cancer risks
Lynch Syndrome Increases Personalized Health Care Workgroup Gynecologic Cancer Risks

Women with Lynch Syndrome may present with a gynecologic cancer first.

Up to 71%

Risk of Cancer (%)

Up to 20%

12%

0.2%

1.5%

<1%

Gastroenterology 1996;110:1020-7

Int J Cancer 1999;81:214-8

Gastroenterology 2004;127:17-25


Lynch syndrome increases risks of other cancers
Lynch Syndrome Increases Personalized Health Care Workgroup Risks of Other Cancers

  • Gastric cancer

    • Lifetime risk of up to 13%

  • Additional cancers that have a lifetime risk of <5%

    • Ureter/renal pelvis

    • Small bowel

    • Biliary tract

    • Brain (usually glioblastoma)

    • Sebaceous adenoma or carcinoma

    • Pancreas

  • Gastroenterology 1996;110:1020-7

    Int J Cancer 1999;81:214-8

    Dis Colon Rectum. 1991:Oct;34(10):891-5


    Family history Personalized Health Care Workgroup

    • Multiple relatives affected

    • Young age at diagnosis

    • Multiple primary cancers

    • Unusual Cancer

      • Ureter/renal pelvis

      • Small bowel

      • Biliary tract

      • Brain (usually glioblastoma)

      • Sebaceous adenoma or carcinoma

      • Pancreas


    Adenomatous polyposis syndromes increase colorectal cancer risk
    Adenomatous Personalized Health Care Workgroup Polyposis Syndromes Increase Colorectal Cancer Risk

    > 99%

     80%

    Risk of Cancer (%)

    7%

    Cancer risks for MAP are currently unknown, but thought to be significantly elevated.


    Adenomatous polyposis syndromes increase risks of other cancers
    Adenomatous Personalized Health Care Workgroup Polyposis Syndromes Increase Risks of Other Cancers

    • Additional cancers that have a lifetime risk of <12%

      • Duodenal and periampullary

      • Thyroid

      • Pancreatic

      • Hepatoblastoma (childhood)

      • CNS (medulloblastoma)

      • Gastric

      • Bile duct

      • Adrenal gland


    Family history Personalized Health Care Workgroup

    • Multiple relatives affected

    • Young age at diagnosis

    • Multiple primary cancers

    • Unusual Cancer

      • Duodenal and periampullary

      • Pancreatic

      • Hepatoblastoma (childhood)

      • CNS (medulloblastoma)

      • Gastric

      • Bile duct

      • Adrenal gland


    Total income diagnostic testing 1997 to 2009 1 005 255 788
    Total income diagnostic testing 1997 to 2009 Personalized Health Care Workgroup 1,005,255,788

    • Assumptions

      • Distribution of types of test

        • Cost

        • Per cent positive


    Assumptions
    Assumptions Personalized Health Care Workgroup


    Health it based strategies for studying the use of family history in primary care

    Health IT – Based Strategies For Studying The Use Of Family History In Primary Care

    Kevin S. Hughes, MD, FACS

    Co-Director, Avon Comprehensive Breast Evaluation Center

    Massachusetts General Hospital

    Co-Chair, Clinical Genomics Special Interest Group

    HL7

    Associate Professor of Surgery

    Harvard Medical school


    To id high risk3
    To ID High Risk Family History In Primary Care


    To id high risk4
    To ID High Risk Family History In Primary Care

    Synthesize data


    To id high risk5
    To ID High Risk Family History In Primary Care

    High

    Risk

    Hundreds of Algorithms

    Synthesize data

    BRCAPRO

    Clauss

    Framingham

    Bethesda Criteria

    ACOG Guidelines

    NCCN Guideline

    Etc…


    Clinical decision support cds4

    Clinical Decision Support (CDS) Family History In Primary Care

    Algorithms/Guidelines applied to patient data

    Results displayed as intuitive Visualizations

    Clinician shown what action to take and why

    Patient shown what action to take and why

    Facilitates best action as part of workflow


    It ehr
    IT Family History In Primary Care ≠ EHR

    Role of the EHR in Family History

    …close to non-existent


    Cds and visualization by ehr
    CDS and Visualization by EHR Family History In Primary Care

    CDS


    Cds and visualization by ehr1
    CDS and Visualization by EHR Family History In Primary Care

    Click open 4 screens


    Cds and visualization by ehr2
    CDS and Visualization by EHR Family History In Primary Care


    Health it1
    Health IT Family History In Primary Care

    • EHR

      • Designed to manage the entire spectrum of medical care

        • Created by large corporations

          • E.g., NextGen, Allscripts, eClinicalWorks, Misys, Centricity, Eclipse, LMR

    • ‘Niche’ Software

      • Designed for specialty areas

        • Homegrown or developed by small vendors

          • E.g., My Family Health Portrait, Jameslink, GREAT, Progeny, HughesRiskApps


    CDS/Visualization by ‘Niche’ Software Family History In Primary Care

    BRCAPRO Mutation Risk 25%

    Suggest Genetic Testing


    Which is more effective
    Which is more effective? Family History In Primary Care

    BRCAPRO Mutation Risk 25%

    Suggest Genetic testing


    Ehrs have difficulty iterating
    EHRs have difficulty iterating Family History In Primary Care

    • AHIC Core Data Set

      • Published 2008

      • No EHR Vendor has adopted it

    • HL7 Pedigree model for interoperability

      • Approved 2006

      • No EHR Vendor has adopted it

    • Family history upgrade to EHR at my institution

      • submitted 2006

      • slated for analysis 2009

      • Implementation 2010 or later


    Ehrs have difficulty iterating1
    EHRs have difficulty iterating Family History In Primary Care

    • AHIC Core Data Set

      • Published 2008

      • No EHR Vendor has adopted it

    • HL7 Pedigree model for interoperability

      • Approved 2006

      • No EHR Vendor has adopted it

    • Family history upgrade to EHR at my institution

      • submitted 2006

      • slated for analysis 2009

      • Implementation 2010 or later


    Ehrs have difficulty iterating2
    EHRs have difficulty iterating Family History In Primary Care

    • AHIC Core Data Set

      • Published 2008

      • No EHR Vendor has adopted it

    • HL7 Pedigree model for interoperability

      • Approved 2006

      • No EHR Vendor has adopted it

    • Family history upgrade to EHR at my institution

      • submitted 2006

      • slated for analysis 2009

      • Implementation 2010 or later


    Gaps in family history it
    Gaps in family history IT Family History In Primary Care

    • Structure of software

      • Core data set

      • Interoperable

      • Flexible

    • Function

      • Ease of data entry

        • Patient entered

      • Validated CDS

        • Risk Algorithms/Guidelines

        • Visualization appropriate to user and patient

        • Pedigree drawing


    What if this works1
    What if this works? Family History In Primary Care

    • If there are about 1,000,000 carriers

      • About 400,000 will be women age 20+

    • If you council and consider testing for 10% or greater risk of mutation

      • About 4,000,000 women will need counseling

    • If the average Nurse Practitioner/Genetic Counselor sees 5 to 10 patients per week…


    Options for high risk
    Options for high risk Family History In Primary Care


    Options for high risk Family History In Primary Care

    Chemoprevention

    Prophylactic Oophorectomy

    Screening


    Risk assessment clinic
    RISK ASSESSMENT CLINIC Family History In Primary Care

    • Collect risk data

    • Risk assessment

    • Counseling

    • Genetic testing

    • Recommendations


    10% Threshold Family History In Primary Care


    2002 Family History In Primary Care

    2010

    Myriad.com


    Myriad income from diagnostic testing
    Myriad Income from Diagnostic Testing Family History In Primary Care


    Positives identified 50 000
    Positives Identified ~50,000 Family History In Primary Care


    Women 20 and above assumptions
    Women 20 and above: Assumptions Family History In Primary Care


    Women 20 and above
    Women 20 and above Family History In Primary Care


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