How to set up a high risk clinic
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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


How to set up a high risk clinic

Risk Clinic Visit


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


How to set up a high risk clinic

Risk Clinic Visit


How to set up a high risk clinic

Demo


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


Monitor cascade testing

Monitor cascade testing


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


How to set up a high risk clinic

Adult hereditary syndromes: 188

  • Scheuner (Am J Med Gen, 2004)


How to set up a high risk clinic

Find all mutation carriers

Family history & selective testing

Population based genetic testing


How to set up a high risk clinic

Find all mutation carriers

Family history & selective testing

Population based genetic testing

Adult syndromes

Newborn screening


How to set up a high risk clinic

CANCER

SPORADIC

HEREDITARY

CANCER

Hereditary vs Sporadic Cancer

Knudson’s 2 hit hypothesis


How to set up a high risk clinic

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


Risk models

Risk Models


How to set up a high risk clinic

BRCAPRO


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


Risk models1

Risk Models


How to set up a high risk clinic

10% Threshold


Newton wellesley hospital since 4 2007

Newton Wellesley HospitalSince 4/2007

  • 49758 unique patients

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


Risk models2

Risk Models


Brca1 2 mutation carriers in the us

BRCA1/2 Mutation carriers in the US

~1,000,000 carriers


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


Dependant on paper form plus memory

Dependant on paper form plus memory


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 ehr

Today’s EHR

CDS


Today s ehr1

Today’s EHR

Click open 4 screens

BRCA1 Positive


Today s ehr2

Today’s EHR


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


How to set up a high risk clinic

Family history

Multiple relatives affected

Young age at diagnosis

Multiple primary cancers

Unusual Cancer

Male breast cancer


How to set up a high risk clinic

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 us1

BRCA1/2 Mutation carriers in the US

~1,000,000 carriers


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


Dependant on paper form plus memory1

Dependant on paper form plus memory


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 ehr3

Today’s EHR

CDS


Today s ehr4

Today’s EHR

Click open 4 screens

BRCA1 Positive


Today s ehr5

Today’s EHR


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


My family health portrait

My Family Health Portrait

81


Demo tablet pc

DEMO: Tablet PC


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


How to set up a high risk clinic

Demo


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


How to set up a high risk clinic

EHRs are limited to major areas

Notes

Allergies

Path Reports

Problem

List

Meds

Lab


How to set up a high risk clinic

Adding new features for small markets is expensive

Notes

Genetics

ӨPedigree

Allergies

ΘFamily History

Path Reports

Risk

Problem

List

Meds

Lab


Every ehr must rebuild the same basic route

Every EHR must rebuild the same basic route


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


How to set up a high risk clinic

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


How to set up a high risk clinic

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


How to set up a high risk clinic

Niche/Modular Software

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


How to set up a high risk clinic

  • EHRs as data repositories

    • 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

  • 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

  • ~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

Patient presents with obvious cancer


Mammography in the 1970 s1

Mammography in the 1970’s

Patient presents with obvious cancer

Mammogram shows obvious cancer

Minimal impact on population health


Mammography today

Mammography today

Millions of screening mammograms

Tens of thousands of subclinical cancers identified

Major impact on population health


Risk identification today

Risk identification today

Age 35 presents with obvious cancer


Risk identification today1

Risk identification today

Age 35 presents with obvious cancer

Pedigree shows obvious hereditary syndrome

Minimal impact on population health


Risk assessment tomorrow

Risk Assessment Tomorrow

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 ManEncyclopedia of all genetic syndromes


Memory based medicine1

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


How to set up a high risk clinic

Module


Find 400 000 mutation carriers4

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


To id high risk

To ID High Risk


To id high risk1

To ID High Risk


To id high risk2

To ID High Risk


Adenomatous polyposis syndromes

AdenomatousPolyposis Syndromes


Tumor suppressor gene

Tumor suppressor gene

Product of the gene helps prevent the development of cancer


How to set up a high risk clinic

Normal Breast Cell

Chromosome 17Normal BRCA1

Chromosome 17Normal BRCA1

Functioning Protein

Functioning Protein


How to set up a high risk clinic

Breast Cell with BRCA1 Mutation

Chromosome 17Normal BRCA1

Chromosome 17Mutated BRCA1

Non-functioningProtein

Functioning Protein


How to set up a high risk clinic

Normal Gene LostCancer Not Prevented

Chromosome 17Normal BRCA1Lost

Chromosome 17Mutated BRCA1

Non-functioningProtein


How to set up a high risk clinic

CANCER

SPORADIC

HEREDITARY

CANCER

Hereditary vs Sporadic Cancer

Knudson’s 2 hit hypothesis


Lynch syndrome increases colorectal cancer risk

Lynch Syndrome Increases 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 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 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


    How to set up a high risk clinic

    Family history

    • 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

    AdenomatousPolyposis 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

    AdenomatousPolyposis 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


    How to set up a high risk clinic

    Family history

    • 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 20091,005,255,788

    • Assumptions

      • Distribution of types of test

        • Cost

        • Per cent positive


    Assumptions

    Assumptions


    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


    To id high risk4

    To ID High Risk

    Synthesize data


    To id high risk5

    To ID High Risk

    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)

    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 ≠ EHR

    Role of the EHR in Family History

    …close to non-existent


    Cds and visualization by ehr

    CDS and Visualization by EHR

    CDS


    Cds and visualization by ehr1

    CDS and Visualization by EHR

    Click open 4 screens


    Cds and visualization by ehr2

    CDS and Visualization by EHR


    Health it1

    Health IT

    • 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


    How to set up a high risk clinic

    CDS/Visualization by ‘Niche’ Software

    BRCAPRO Mutation Risk 25%

    Suggest Genetic Testing


    Which is more effective

    Which is more effective?

    BRCAPRO Mutation Risk 25%

    Suggest Genetic testing


    Ehrs have difficulty iterating

    EHRs have difficulty iterating

    • 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

    • 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

    • 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

    • 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?

    • 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


    How to set up a high risk clinic

    Options for high risk

    Chemoprevention

    Prophylactic Oophorectomy

    Screening


    Risk assessment clinic

    RISK ASSESSMENT CLINIC

    • Collect risk data

    • Risk assessment

    • Counseling

    • Genetic testing

    • Recommendations


    How to set up a high risk clinic

    10% Threshold


    How to set up a high risk clinic

    2002

    2010

    Myriad.com


    Myriad income from diagnostic testing

    Myriad Income from Diagnostic Testing


    Positives identified 50 000

    Positives Identified ~50,000


    Women 20 and above assumptions

    Women 20 and above: Assumptions


    Women 20 and above

    Women 20 and above


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