Kevin S.Hughes, MD, FACS Co-Director, Avon Comprehensive Breast Evaluation Center Massachusetts General Hospital Surgeon The Newton-Wellesley Hospital.

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Presentation transcript:

Kevin S.Hughes, MD, FACS Co-Director, Avon Comprehensive Breast Evaluation Center Massachusetts General Hospital Surgeon The Newton-Wellesley Hospital Breast Center Identification and Management of Women at High Risk for Hereditary Breast and Ovarian Cancer

DISCLOSURES HughesRiskApps.Net Open Access Solution Speaker’s Bureau Myriad Genetics

Cancer Risk Breast 50-87% 50-87% Ovary 40-60% 10-20% Breast 6% FemaleMaleFemaleMale BRCA1BRCA2

Hereditary vs Sporadic Cancer Knudson’s 2 hit hypothesis HEREDITARY CANCER SPORADIC CANCER

Family history Multiple relatives affected Young age at diagnosis Multiple primary cancers Male breast cancer

Options for high risk

Prophylactic Oophorectomy Screening Chemoprevention Options for high risk

HRT Use:Never Post-RRSO RRSO:NoYes Mean age at RRSO ( )40.8 ( ) Mean age at start of follow up34.4 ( )-- Mean follow-up to BC4.8 ( )2.7 ( )4.9 ( ) Mean age at BC40.9 ( )46.3 ( )46.5 ( ) Mean follow-up to censoring (Yrs)5.1 ( )3.6 ( )5.4 ( ) Total Sample (N) BC Diagnosed During FU194 (22%)22 (12%)20 (14%) HR (95% CI)[1]0.56 ( )0.43 ( ) BRCA1 (N) BC Diagnosed During FU118 (23%)16 (14%)17 (16%) HR (95% CI)[1]0.58 ( )0.49 ( ) BRCA2 (N) BC Diagnosed During FU76 (22%)6 (10%)3 (8%) HR (95% CI)[1]0.46 ( )0.22 ( ) Adjusted for age at start of follow up and stratified by center Breast cancer with and without RRSO (+/-HRT)

BRCA1/2 Mutation carriers in the US nCarriers Non-Jewish (1/350) 294,985,491842,816 Jewish (1/40) 6,635,665165,892 Total301,621,1571,008,707 ~1,000,000 BRCA1/2 carriers

BRCA1/2 Mutation carriers in the US Females 20 and above between 1996 and today Close to 500,000 BRCA1/2 carriers PopulationCarriers Non-Jewish (1/350) 145,175,175414,786 Jewish (1/40) 311,407477,852 Total 148,289, ,638

16 years of genetic testing: BRCA1/2 carriers found to date ~60,000 (12%) of the ~500,000 carriers BUT Most people tested already have cancer Estimate that 95% of unafffected carriers remain unidentified

Mammography in the 1970’s Patient presents with obvious cancer

Mammography in the 1970’s Patient presents with obvious cancer Mammogram shows obvious cancer Minimal impact on population health

Mammography today Major impact on population health Millions of screening mammograms Tens of thousands of subclinical cancers identified

Risk identification today Age 35 presents with obvious cancer

Risk identification today Age 35 presents with obvious cancer Pedigree shows obvious hereditary syndrome Minimal impact on population health

Risk Assessment Tomorrow Major impact on population health Millions of family histories collected and assessed Hundreds of thousands of high risk patients identified Tens of thousands of cancers prevented or found earlier

Family history & selective testing Population based genetic testing Find all mutation carriers Adult syndromes Newborn screening

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

NCCN 2011, Genetic Testing

Know models or use a computer BRCAPRO: Bayes-Mendel Model

Data entry to do one computer model

Clinician synthesizes patient data, compares to guidelines/models, determines next steps Who is at risk

Dependant on paper form

Currently: Paper + memory Patient completes paper form Reviews data using memory of guidelines Orders Genetic Testing

EHR: Paper + extra work + memory Patient completes paper form Reviews data using guidelines and algorithms Orders Genetic Testing Staff enters data into the EHR

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 Facilitates best action as part of workflow

HughesRiskApps.Net Patient enters data into Tablet PC or iPad Flag for risk assessment Patient educational materials Clinical Decision Support

Newton Wellesley Hospital Since 4/2007 Over 50,000 unique patients 2255 (4.5%) mutation risk 10% or greater

Not Jewish No Cancer Jewish No Cancer Not Jewish Cancer Jewish Cancer Mammography patients needing risk assessment

Demo

DISCLOSURES HughesRiskApps.Net Open Access Solution

Version 3

Monitor uptake on counseling

Simplify Contact

Simplify contact and record outcome

If patient declines, record reason

Module

Average EHR today CDS

Average EHR today Click open 4 screens

Average EHR today, poor CDS