4th Annual Early Age Onset Colorectal Cancer Summit: Transforming Family Health History Ascertainment and Colorectal Cancer Preventive Services in Primary Care An Update from the NCCRT Family History Early Age Onset Task Group.

Thursday, April 26, 2018, 4:30 pm – 8:30 pm
Friday, April 27, 2018, 7:30 am – 5:00 pm
JW Marriott Essex House New York
“WHY”: What Factors Are Driving the Increasing Incidence of Young Adult Colorectal
Cancer – A “State-of-the-Science” Review
This CME Conference is being jointly provided by the Colon Cancer Foundation
and Northwell Health
4TH ANNUAL EARLY AGE ONSET
COLORECTAL CANCER SUMMIT
#EAOCRC18

SPECIAL SYMPOSIUM
Transforming Family Health History Ascertainment and Colorectal Cancer
Preventive Services in Primary Care An Update from the NCCRT Family
History Early Age Onset Task Group
Thursday April 26, 2018 4:30 pm – 8:30 PM

EDUCATIONAL OBJECTIVES
• Review the mission, goals and accomplishments of the National Colorectal Cancer
Roundtable (NCCRT) Family History and Early Onset Task Group.
• Learn about the importance of Family Health History for colorectal cancer, including
advanced adenomas, and its importance in preventing colorectal cancer. This will include
current challenges and opportunities surrounding ascertainment and documentation of
actionable family health history information in primary care.
• Experience a “First Look” at the NCCRT Risk Assessment & Screening Toolkit for facilitating
the identification and management of patients at risk of familial, hereditary and early onset
colorectal cancer. This will include a summary of our current state of knowledge on the optimal
standards for collecting a family history as well as care and support for the young adult
colorectal cancer patient. The Toolkit will include examples of best practices as well as tools
and resources available to facilitate efforts to meet these standards.
• Review the leadership roles, challenges, and opportunities for primary care in implementing
system-based strategies aimed at promoting appropriate risk assessment and screening of
individuals at familial risk of CRC, as well as early diagnostic evaluation of individuals with signs
or symptoms of CRC, regardless of age.
ORGANIZER AND HOST
Thomas K. Weber MD FACS Director of Surgical Oncology; Northwest Region at Northwell Health President and Founder, Colon
Cancer Foundation
CO-CHAIRS NCCRT FAMILY HISTORY EARLY ONSET CRC TASK GROUP
Paul C. Schroy III MD MPH Professor of Medicine Boston University School of Medicine Director of Clinical Research GI Section,
Boston Medical Center
Dr. Dennis J. Ahnen MD AGAF FACG Professor of Medicine University of Colorado School of Medicine, Genetics Clinic,
Gastroenterology of the Rockies

PRESENTATIONS
OPENING REMARKS
Thomas K. Weber, MD, FACS, Director of Surgical Oncology; Northwest Region at
Northwell Health; President and Founder, Colon Cancer Foundation
OVERVIEW AND INTRODUCTION TO THE NATIONAL COLORECTAL CANCER ROUNDTABLE
(NCCRT) AND THE FAMILY HISTORY EARLY AGE ONSET COLORECTAL CANCER TASK GROUP
Dennis Ahnen, MD, AGAF, FACG, University of Colorado School of Medicine
Paul Schroy III, MD, MPH, Boston University School of Medicine
FRAMING THE FAMILIAL/HEREDITARY COMPONENT AND OTHER OPPORTUNITIES TO IDENTIFY
THOSE MOST AT RISK:
• LYNCH, FAP, MYH
• FIRST DEGREE RELATIVE WITH COLORECTAL CANCER
• FIRST DEGREE RELATIVE WITH COLONIC ADVANCED ADENOMA
Swati G. Patel, MD, MS, University of Colorado Anschutz Medical Center
Heather Hampel, MS, LGC, The Ohio State University Comprehensive Cancer
Center
Christine Louise S. Molmenti, MPH, PhD, Feinstein Institute for Medical
Research/Northwell; Donald and Barbara Zucker School of Medicine at
Hofstra/Northwell

PRESENTATIONS
FIRST LOOK – THE NCCRT RISK ASSESSMENT AND SCREENING TOOLKIT TO DETECT
FAMILIAL, HEREDITARY, AND EARLY ONSET COLORECTAL CANCER:
Emily Edelman, MS, CGC, The Jackson Laboratory
Shelly Yu, MPH, American Cancer Society Cancer Action Network, Inc.
Summary of current practices and known barriers related to the
identification, screening and management of patients at increased CRC risk;
Opportunities with regard to Electronic Health Record Systems;
Family history ascertainment and risk assessment tools currently on the
market;
Overview of the Toolkit goals, core objectives, conclusions and limitations;
Suggestions for implementation and dissemination;
Plans for future follow up and programming.

PRESENTATIONS
Primary Care Leadership in Colorectal Cancer Risk Assessment: Family Medicine, Internal
Medicine, Obstetrics and Gynecology - Faculty Includes:
Dennis Ahnen, MD, AGAF, FACG, University of Colorado School of Medicine
Durado Brooks, MD, MPH, American Cancer Society
Maureen Killackey, MD, New York Presbyterian/Herbert Irving Comprehensive
Cancer Center
Jennifer Reich, MD, Orange Regional Medical Center and Valley Hospital
Randa Sifri, MD, Thomas Jefferson University

National Colorectal Cancer Roundtable and
Family History Early Age Onset CRC Task Group
Who Are We?

NCCRT is a national coalition of public, private, and voluntary
organizations whose mission is to advance colorectal cancer control
efforts by improving communication, coordination, and
collaboration among health agencies, medical-professional
organizations, and the public.
Co-Founded by ACS and CDC in 1997
Collaborative partnership of over 100 member organizations
Includes many nationally known experts, thought leaders, and
decision makers on colorectal cancer
Work is conducted throughout the year through various Task
Groups and Special Topic Meetings
National Colorectal Cancer Roundtable (NCCRT)

Task Groups
 Professional Education and Practice
 Community Health Centers
 Public Awareness and Social Media
 Evaluation and Measurement
 Policy Action
 Quality Assurance
 Family History and Early Onset CRC

Tools, Resources and Publications
10

80% by 2018
80% by 2018 is a movement in which hundreds of organizations
have committed to eliminating colorectal cancer as a major
public health problem and are working toward the shared goal
of reaching 80% screened for colorectal cancer by 2018.
More than1500 organizations have
signed the pledge!
nccrt.org/tools/80-percent-by-2018/80-percent-by-2018-pledge/

Family History and Early Age Onset
(EAO) CRC Task Group

 Founded in 2012
 Expanded to include Early Onset CRC in 2016
 The charge is to identify key issues and areas
of need around familial, inherited and early
onset colorectal cancer for the purpose of
identifying opportunities for the Roundtable
to be a catalyst for change.
Family History Task Group

• Help clinicians develop a system-based approach to the identification and
management of patients at familial risk, as well as the recommendation
for early diagnostic evaluation of those presenting with signs or symptoms
of CRC at any age.
• Improve EHRs to help facilitate needed screening and/or counseling
recommendations for patients with a family history.
• Increase clinician-patient and intra-family communication about
familial/heritable risk.
• Improve “on time” screening for the 50 to 55 population, according to
recommended guidelines.
• Address the increase in CRC in young adults through strategic planning
and interactions with key stakeholders and thought leaders.
Task Group Themes

Family History and Early Age Onset
CRC Task Group
Accomplishments

Hosted FH Symposium on Sept 23, 2014
• 34 attendees, including many renown experts in the field
• Goals:
 Review state-of-the-science: risk estimate, screening guidelines, screening rates,
barriers, interventions
 Identify research priorities
 Determine critical next steps to increase screening rates in high-risk individuals
• Key take-home messages
 Need to enhance the capability of EHR systems for collecting FH data in
standardized formats and linking them with clinical decision making;
 Need for provider education and risk assessment tools to facilitate identification
and appropriate management of patients at increased/high risk;
 Outreach to survivors provides a key yet underutilized link to high risk families.
Needs include:
o Tools to help survivors communicate risk to their families.
o Guidelines for educating patients about talking to their doctors regarding CRC.

State-of- Science Paper: Key Priorities
• Improve how we collect and utilize cancer FH information.
• Establish consensus across organizations for CRC screening guidelines
by FH status.
• Enhance provider/patient knowledge of guidelines and
communication about CRC risk.
• Encourage cancer survivors to promote screening within their
families, and partner with existing CRC screening programs to expand
reach to high-risk groups.

Improve Collection/Utilization of FH Information
Electronic Health
Record (EHR)

GI Brief
5 key recommendations:
• Focused FH for all patients
annually
• Keep abreast of guidelines
• Establish a referral process
• ID high-risk patients in
Endoscopy Unit
• Develop/use tools to
communicate with family
Available at nccrt.org/80by2018
Provider Education

GI Brief/Dissemination
• Released during the Dec. 8, 2016 webinar on familial risk and CRC:
http://nccrt.org/resource/familial-risk-webinar/
• Sent email notification to NCCRT members and 80% pledged partners
• Promoted on NCCRT’s Facebook and Twitter social media channel
• Issued call to action to GI society representatives and communications leads to
promote
Provider Education

Toolkit
• Jackson Lab commissioned to develop practice transformation
clinician’s toolkit on family history and early onset CRC.
• Goals:
 To bridge the existing knowledge gap and to provide a step-by-step,
detailed tool for practices that are dedicated to improving their
processes related to the collection of family history and acting on that
information according to recommended guidelines.
 Provide guidance on the appropriate diagnostic evaluation of patients
with “alarm” signs and symptoms of CRC, regardless of age.
Provider Education

Toolkit
Specific Objectives:
• Conduct a multi-faceted needs assessment to discover best
practices in CRC screening of at-risk populations and to
identify key drivers influencing successful CRC screening
programs
• Develop a toolkit for PCPs to facilitate practical
implementation of appropriate risk assessment, screening,
and communication practices for early detection of CRC
Provider Education

2017 Early Age Onset Colorectal Cancer Summit: “What we know,
what we don’t know, and what we need to know”
•The National Colorectal Cancer Roundtable, the American Cancer Society,
and the Colon Cancer Challenge Foundation convened a strategic meeting on
December 6, 2017, with a small group of key thought leaders and national
stakeholders to focus on the concerning trend of early age onset colorectal
cancer.
•Purpose: To assess how the NCCRT and its partners, including clinical
practitioners, researchers, and advocacy organizations, can most effectively
align to address the issue in both the short and long term.
Early Onset CRC

Agenda and Discussions
•Panel 1: Emerging Trends and Research:
 A review of what we know, what we don’t know, and what we need
to know.
•Panel 2: Exploring key questions that need further scientific research and
explanation
 This discussion asked panelists to pose key questions from their
perspective that need to be answered and studies that need to be
conducted in critical research areas. Focus areas included
epidemiology, molecular biology, and genetics.
•Review and Discussion: Risk Assessment and Screening Toolkit to
Detect Familial, Hereditary and Early Onset Colorectal Cancer
Early Onset CRC

Small Group Discussions
“Acting Now: What important steps need to happen if we are to
address knowledge gaps”
•3 Discussion Groups
 What are the key research questions that need to be addressed in this
area and how can we stimulate needed research?
 What do frontline providers need most need if they are to play a more
effective role in diagnosing CRC at the earliest stage?
 What is the role of national organizations, such as NCI, CDC, ACS and the
NCCRT, in stimulating work around the early age onset issue with front-
line providers?
Early Onset CRC

Meeting Themes
• Defining roles for major stakeholders
 National agencies: coming together and providing guidance for research on the
issue.
 Front-line providers: Engaging them and better understand how to provide
assistance.
 NCCRT: Provide a platform to gather partners around the issue.
 Healthcare Systems: Improve organization and engagement in research and
implementation.
• Improving Practice: Development, accessibility and validation of
tools improving practice.
Early Onset CRC

Meeting Themes (cont)
• Modeling: Inform the CRC screening microsimulation models by
better defining the adenoma prevalence & dwell time in the <
40 - 50 year old age group.
• Emphasis on communication:
 Continue to promote awareness around family health communication,
with particular interest towards advanced adenomas;
 Changing the narrative to incorporate “On Time Screening” messaging
• Insuring universal MSI testing
• Urgent need for additional research
Early Onset CRC

Post-Meeting Progress
• Two meeting reports are in development
 A detailed meeting recap and recording of
conversations.
 An academic manuscript noting key themes, areas of
focus, and pertinent research questions explored.
• Keeping the conversation moving forward: Colon
Cancer Challenge Foundation’s Summit
Early Onset CRC

EHR
EHR Meeting
(9/29/15)
Delphi Survey
ACS CAN

Hosted EHR Meeting (9/29/15)
Objectives: Develop consensus statement, core components and outline
NCCRT Strategy on improving FH collection in EMRs
Issues from Family History perspective:
– EMR data is collected in a variable manner
• What is goal of FH component of EMR?
• What are the minimal data elements?
• How should they be collected?
– No link between family history data in EMR and clinical decisions
• What types of linkage?
• Potentially work with vendors

Delphi Survey
Goal:
•Establish a standardized, core set of data items for collecting
cancer family history directly into EHRs, or integrating these into
EHRs from family history tools.
Progress:
• Transition from “Broad Consensus” to “Expert Consensus”
• Completed first iteration of the survey.
• Received comments on low and high level agreement
questions, currently working on those with mid level
agreement

Delphi Survey
• Consensus items thus far (>80%)
– Goal- ID patients who should be referred for further risk
assessment and those at higher than average risk and need
more intense screening
– Data elements- FDRs and SDRs, age of cancer dx, all cancer
types that would change screening, entered as discrete
elements in searchable fields, importable from FH tool and
patient portal, updated whenever new information becomes
available

Delphi Survey
– Links to Decision Making- capacity to alert increased risk of
hereditary cancer syndrome or elevated cancer risk or need for
different screening, provide links to current screening
guidelines based on FH and generate best practice alerts for
cancer screening for high risk pts
– Development Process- Elements of FH section should be
guided by national standards, standardized across EHRs,
incorporated centrally by EHR vendors and updated by vendors
as recommendations change
– Incentives- Completing/Maintaining FH section and referral of
appropriate patients for genetic counseling/testing should be
expected as part of high quality care

• ACS CAN EHR Workgroup- Shelly Yu
Recommendations
#1: Enable the systematic, structured, and easy collection of critical data elements to
inform cancer risk assessment, prevention and screening
#2: Support cancer screenings by enabling providers to identify, order, track, and
document screenings
#3: Enable cancer risk assessment by appropriately flagging patients for genetic
counseling, testing, and/or screening, and integrating with risk assessment tools

Family History Task Group
Next Steps

• Finalize, disseminate and validate the Clinicians Family
History EAO Toolkit
• Complete the Delphi Survey, analyze the data, share
results with the NCCRT and ACS CAN and submit for
publication
• Identify strategies for optimizing communication about
advanced adenomas
• Work with NCCRT to change narrative regarding “on-time
screening”
•Ask NCCRT to convene and facilitate a meeting of leaders
of Primary Care Organizations to discuss EAO CRC.
Next Steps

The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute
Framing the Familial/Hereditary Component of
Colorectal Cancer & Other Opportunities to
Identify those Most At Risk
Heather Hampel, MS, LGC
Associate Director, Division of Human Genetics
Professor, Department of Internal Medicine
Twitter: @HHampel1

Nearly Half of Early-Onset CRC is Hereditary/Familial:
aka Potentially Preventable

42
The Ohio State University Comprehensive Cancer Center –
Arthur G. James Cancer Hospital and Richard J. Solove
Research Institute
Who is at high risk for cancer?
Family History is the key…

Family History
An important first step in risk assessment for
genetic diseases and other hereditary health
conditions
Americans know that family history is
important to health. A recent survey found
that 96 percent of Americans believe that
knowing their family history is important. Yet,
the same survey found that only one-third of
Americans have ever tried to gather and
write down their family's health history.

 Strong family history of cancer
 Need referral for genetic counseling & consideration of
genetic testing
 Need intensive cancer surveillance
 Depends on the syndrome but often includes colonoscopy
every 1-2 years starting in the teens-20s
 The first degree relatives of a person with a hereditary
cancer predisposition syndrome have a 50% chance that
they have inherited it
 Cancer risks vary but range from 20-100%
High Risk Families

 Cancer in 2 or more close relatives
(on same side of family)
 Multiple generations affected
 Early age at diagnosis
 Rare cancers (sebaceous skin cancer)
 Multiple primary tumors (colon and uterus; more
than one colon cancer)
 Multiple colon polyps (>10)
 Patients with certain pathology findings
 Abnormal IHC or MSI+ testing
High Risk Clues:

 Over 1.2 million individuals in
the United States have Lynch
syndrome
 Inherited condition that causes
high risks for colorectal cancer,
endometrial cancer, and other
cancers
 Preventable cancers with early
and more frequent screening
 95% of affected individuals do
not know they have Lynch
syndrome
Lynch Syndrome

 Familial Adenomatous Polyposis
(FAP)
o > 100 adenomatous polyps
throughout colon
o Increased risks for colorectal,
duodenal, thyroid cancers,
medulloblastoma, and
hepatoblastoma
o Gene: APC (30% of mutations are
de novo)
 Attenuated FAP
o 20-100 adenomas
o Gene: APC (mutations in specific
locations lead to milder phenotype)
Adenomatous Polyposis Syndromes
 MUTYH-Associated Polyposis (MAP)
o 20-100s of adenomatous polyps
o Overlap with FAP and Lynch
syndrome
o Gene: MUTYH (recessive with 1/50
carrier frequency)
 Polymerase proofreading-associated
polyposis (PPAP)
o Increased risk of adenomatous
colon polyps, colon cancer, uterine
cancer, and possibly other cancers
o Newer syndrome, still being defined
o Genes: POLD1, POLE

 Peutz-Jeghers syndrome
o Peutz-Jeghers polyps
primarily in the small
intestine but can be
throughout GI tract
o Increased risk for GI cancers
and multiple other cancers
(breast, SCTAT of the
ovaries and testicles,
pancreatic)
o Gene: STK11
Hamartomatous Polyposis Syndromes
 Juvenile polyposis syndrome
o Juvenile polyps throughout GI
tract, increased risk for GI
cancers
o > 5 JP is diagnostic criteria
o Genes: BMPR1A, SMAD4
 Serrated polyposis syndrome
o > 20 serrated/hyperplastic
polyps throughout the colon
o Increased risk for colon cancer
o Gene: Not known
 GI = gastrointestinal; JP = juvenile polyposis; SCTAT = sex cord tumor with annular tubules.

 Hereditary mixed polyposis syndrome
o Syndrome mostly seen in individuals
of Ashkenazi Jewish ancestry
o Adenomatous, hyperplastic, other
type of polyps through GI tract
o Gene: SCG5/GREM1
 Cowden syndrome
o Multiple different types of polyps –
ganglioneuromas especially
suspicious
o Increased risk for breast, thyroid,
endometrial, and colon cancers
o Gene: PTEN
Mixed Polyposis Syndromes

 1-2 cases of a cancer in the family
 Do not need referral for genetic counseling
 Do need increased cancer surveillance
 Generally the first degree relatives of a person with a
cancer are about twice as likely to develop that same
cancer than someone without that family history (10%
lifetime risk)
Moderate Risk Families

Familial Colorectal Cancer Risks
Taylor, DP, Gastroenterology 2010;138:877-886.

 >1 FDR dx at any age
 Colonoscopy every 5-10 years beginning at age 40 (or 10
years before earliest dx of CRC)
 >1 SDR diagnosed <50
 Colonoscopy every 5-10 years beginning at age 50
 FDR with advanced adenoma(s)
 Colonoscopy every 5-10 years beginning at age 40 or age
of onset of adenoma in relative
 Otherwise follow Average Risk recommendations
 Colonoscopy every 10 years beginning at age 50
Familial Colorectal Cancer Screening
Recommendations

Overview of Opportunities for Improving
Capture of Family History through the EHR
Shelly Yu, MPH
Senior Legislative and Policy Analyst – Emerging Science
ACS CAN
Shelly.yu@cancer.org

Family History and Advanced Adenoma
Initiatives
Christine L.S. Molmenti, PhD, MPH
Assistant Professor
Feinstein Institute for Medical Research
Donald and Barbara Zucker School of Medicine at Hofstra/Northwell
Department of Occupational Medicine, Epidemiology, and Prevention
Center for Health Innovations and Outcomes Research
April 26, 2018

Overview
1. Background and significance
1. Study designs and initiatives
• Advanced adenoma prevalence among early age onset
colorectal cancer
• Integrated post-colonoscopy communication system (iColon)
• NCCRT Advanced Adenoma Working Group
2. NCCRT Advanced Adenoma Working Group

Prime target for prevention
Fearon and Vogelstein, Cell, 61, 759-767, 1990
Terzic et al, Gastroenterology 138(6), 2101-2114 2010
Normal
Epithelium
Metastatic
Cancer
Dysplastic
lesion
Early
Adenoma
Late
Adenoma
Cancer
Cytokines, DNA repair genes, K-ras, P53, COX-2 overexpression

Advanced adenoma (AA)
Defined as:
≥1 cm and/or villous/tubulovillous features or
high-grade dysplasia
Associated with:
Increased risk of adenoma recurrence
Increased risk of colorectal cancer
Strum WB, NEJM 374(11); 2016

Strum WB, NEJM 374(11); 2016
Advanced adenomas
≤ 5mm adenomas
• 45-71% of
adenomas
• 7-16% advanced
features
• 0.05% malignant
(4mm)
6-9 mm adenomas
• 21-23% of
adenomas
• 10-34% advanced
features
• 0.2% malignant
(8mm) (20 mm)
≥ 10 mm adenomas
• 8-22% of adenomas
• All advanced based
on size
• 37-54% advanced
features
• 3.2-11% malignant

Increased CRC risk among FDRs of
patients with advanced adenomas
• 2.27 to 4.36 fold increase in odds of CRC and large AA among
those with FDRs diagnosed with adenomas
• 6-fold increased odds of being diagnosed with an AA among
FDRs of individuals with >1 AA
• FDRs of AA patients have significantly higher risk of developing
colorectal cancer
 Meta-analysis of 9 studies estimated RR of colorectal cancer
in FDRs of patients with adenomas as 1.99
FDR = First Degree Relative (Parent, Sibling, Child)

Guidelines
1. United States
Multi-Society Task
Force (USMSTF)
2. American Cancer
Society (ACS)
Advanced adenoma in 2
FDRs (any age) or AA in 1
FDR < 60 y
Colonoscopy every 5 years
beginning 10 years before
the age at diagnosis or age
40 y, whichever is earlier.
Advanced adenoma in 1
FDR at age ≥60 y
Begin screening at 40.
Options for screening are
the same as those for
average-risk persons.
3. National
Comprehensive
Cancer Network
(NCCN)
Advanced adenoma(s) in
an FDR regardless of age
Colonoscopy beginning at
age 40 y or at age of onset
of adenoma in relative,
whichever is first

88% with adenoma diagnosis do not
know they are at higher risk
Among those with
Any Adenoma (n=56)
More likely 7 (12.5%)
Less likely 18 (32.1%)
About as likely 16 (28.6%)
Don't know 15 (26.8%)
Compared to the average person your age, your chance of
developing colorectal cancer is……
Among those with ≥1cm, ≥3, or
villous histology (n=30)
More likely 4 (13.8%)
Less likely 9 (31.0%)
About as likely 8 (27.6%)
Don't know 8 (27.6%)
Molmenti C, 2018, in preparation
Columbia University CRC Risk Perception and Risk Awareness Study
88% 86%

Initiative #1.
Prevalence of advanced adenomas
among early age onset colorectal
cancer cases
• In collaboration with the Ohio Colorectal Cancer
Prevention Initiative (OCCPI): Universal
Screening for Lynch Syndrome (USLS)

Unknown what percentage of EAO CRC is due to family history of advanced
adenoma
Ohio Colorectal Cancer
Prevention Initiative
(OCCPI): Universal
Screening for Lynch
Syndrome (USLS)
EAO CRC
67
56%
Sporadic
16%
Hereditary
14%
Family history
CRC
≥14%??
Family
History of
AA

adenoma
(OCCPI): Universal
Screening for Lynch
Syndrome (USLS)
EAO CRC
68
50%
Sporadic
16%
Hereditary
14%
Family history
CRC
20%
Family
History of
AA

adenoma
(OCCPI): Universal
Screening for Lynch
Syndrome (USLS)
56%
Sporadic
14%
Family history
of CRC
XX%
Family
History of
AA
40%
Sporadic
16%
Hereditary
14%
Family history
CRC
30%
Family
History of
AA

Priority area in CRC research
Understand advanced adenoma prevalence among EAO
CRC is a priority area and a critical step in decreasing
incidence and mortality of EAO CRC
Innovation:
• Determine the contribution of component of familial
risk that has not been measured
• The first study (to our knowledge) to investigate the
prevalence of AA among a cohort of pathologically
confirmed EAO CRC patients
70

EAO CRC cases, n=507
• EAO cases recruited between 1/1/2013 and
12/31/2016)
 Diagnosed with a primary invasive colorectal
adenocarcinoma (all stages) <50 years of age
 Not identified as having a cancer susceptibility gene
or having a family history of colorectal cancer
• Anticipate 4 first degree relatives per EAO case
 N=~2000 FDRs to contact

Proband
contacted and
consented
Letter/email
Proband
provides
contact
information for
FDR(s)
Study team
contact FDRs*
Consent and
medical
release form
signed
Study staff
identifies
documentation
of FDRs
colonoscopy
and pathology
reports
Study flow
*FDRs who have not undergone colonoscopy will be
encouraged to do so as soon as possible. For those who
decline, FIT will be offered

Outcomes
1) Prevalence of AA among FDRs of EAO CRC
patients who do not have a hereditary
syndrome or a first degree relative with
colorectal cancer.
2) Proportion (%) of EAO CRC patients who would have been
recommended to start colonoscopy PRIOR to the age at
which they developed their colorectal cancer based on the
FDR with an advanced adenoma.
3) Proportion (%) of patients that were diagnosed with a EAO
CRC that could have been realistically prevented or detected
early.

Initiative #2.
Integrated colonoscopy
communication system (iCOLON)
- NCI K08 grant submission
Month Day, 74

Improve post-colonoscopy
communication
Population
Adenoma patients, primary care and GI physicians
Goals
1. Close “open communication loops”
2. Engage patients and families after adenoma diagnosis
3. Address surveillance colonoscopy underutilization
Design
Mixed-methods approach
75

Preliminary data indicates:
1. Communication between the gastroenterologist and
the referring physician often lack contextual
information such as final pathology results
2. Recommended follow up is not consistently
documented.
3. Post-polypectomy patients have low awareness of
their risk for colorectal cancer and surveillance
recommendations.
4. No efficient system in place for communicating
colonoscopy results.

Research questions:
1) Will improving understanding of colonoscopy results
among patients with advanced adenomas impact
conversation with FDRs about early screening?
2) Is it possible to create a “universal colonoscopy
report” that can be shared among the
gastroenterologist, patient, and primary care?
3) Can we provide links to family members to impact
early screening adherence?

Survey content and outcomes*
. Primary care and GI physicians will be identified and recruited upon patient
nd adenoma diagnosis.
y criteria.
and female
rs of age,
lonoscopy at
ithin the last
ma removed,
ne. Patients
ory of CRC,
hereditary
e with
luded.
erologists
will be
Specific
rvey will
nowledge of their colonoscopy results, their perceived risk of colorectal cancer,
Table 5. Aim 3 primary outcomes
Survey Content Outcome(s)
Patient What were the results of your
colonoscopy?
Compared to the average person,
do you think you are more
likely/less likely//about as likely to
get CRC?
Do you know if/when follow up
colonoscopy should be?
Risk perception
Knowledge (of results
and surveillance interval)
Primary
Care
Do you know the surveillance
interval that was recommended by
the GI?
Knowledge of GI
recommended
surveillance interval
GI How often do you communicate
risk status to your patients?
How confident are you in the
educational material you provided
regarding their results and risk?
Frequency of
communicating risk. Self
efficacy of
communicating risk and
providing appropriate
patient education
*Add family history questions and survey links to family members

Allscripts
•Primary insurance
•Medical history
•Laboratory results
•Lipid profile
•Metabolic panel
ProVationMD
Endoscopy Report
•Zip code
•Date of birth
•Age
•Gender
•Indications
•Quality of bowel
preparation
•Findings
•Adenoma size
•Number of adenomas
removed
•Biopsies (yes/no)
•Impression
•Recommendation
•Procedure code
•Diagnosis code
Sunrise
•Height
•Weight
•BMI
•Medications
•Alcohol
•Tobacco,
•Language
•Colonoscopy withdrawal
time
•Date and time of
procedure
•Performing
physician/fellow
•Cecal intubation
•Use of anesthesia vs.
conscious sedation
Cerner
Northwell Health Data Extraction
Colonoscopy Registry (N=21,000)
• Histology
• Location of polyps
• Colorectal adenomas ICD-
9/10 codes
o 211.3 Colon adenoma
o 211.4 Rectal adenoma
• CPT codes
o 43580, 45385, 45385
(screening for
colorectal neoplasm)

National Colorectal Cancer
Roundtable Advanced
Adenoma Working Group
- Established December 2018
80Month Day,

Mission
• To understand the role of advanced adenoma on EAO
CRC
• To develop novel tools and resources to improve
advanced adenoma knowledge and awareness
among patients and physicians
• To impact compliance with surveillance colonoscopy
uptake among adenoma patients and screening
uptake among FDRs of advanced adenoma patients
81

Summary and Next Steps
1. Know your family history of CRC and adenomas, particularly advanced
adenomas
2. Research initiatives are needed to fully explore:
• Impact of advanced adenomas on EAO CRC
• How to reach family members of individuals diagnosed with advanced
adenomas
Month Day, 82

Acknowledgements
Columbia University
Alfred Neugut
Heather Greenlee
Jeanine Genkinger
Grace Hillyer
Benjamin Lebwohl
Richard RosenbergCleveland Clinic
Carol Burke
Hennie Hasson
University of Arizona
Elizabeth Jacobs
David S. Alberts
Richard H. Carmona
Robin Harris
Denise Roe
Cynthia Thomson
The Ohio State University
Heather Hampel
Mark Arnold
Bruce Casto
Steven Clinton
Northwestern University
Elizabeth Hibler
University of Colorado
Dennis Ahnen
Jennifer Kolb
Harvard University
Stephanie Smith-Warner
Fred Tabung
Northwell Health
Jacqueline Moline
Gloria Ho
Tom Weber
Tom McGinn
Michael Diefenbach
Renee Pekmezaris
Joseph Conigliaro
John Chelico
Martin Lesser
Rehana Rasul
Samantha Schneider
Francine Smith
Maurice Cerulli
Larry Miller
Montana State University
Gary D. Stoner

Thank you!
Questions
cmolmenti@northwell.edu
Month Day, 84

Outcomes
3. Proportion (%) of EAO patients that were diagnosed with a EAO CRC that
could have been realistically prevented or detected early. The numerator
for this proportion will include the number of EAO cases for which the
tumor stage and timing of the screening interval (based upon the FDRs
adenoma diagnosis and a priori categories* determined by the
investigators) intersect in such a way that that it would have been
reasonably possible to detect their EAO cancer early or prevent it
altogether.
*Category examples (will provide gender specific analyses in the study):
Tumor stage 0-1 and screening recommended ≥5 yrs prior = yes reasonable chance of prevention.
Tumor stage 1-2 and screening recommended ≤ 5 yrs prior = early detection more reasonable than
prevention.
Tumor stage 3-4 and screening recommended within one year prior = no, not reasonably prevented
but potentially detected at an earlier stage.
Tumor stage 3-4 and screening recommended ≥5 years prior = prevention and early detection is
reasonable.

EHR Adoption, Functionality Has Increased
1.) 2008 numbers refer to adoption of basic EHRs, as defined by ONC (e.g., any EHR with capabilities in areas such as: patient demographics, physician notes, nursing assessments, patient problem lists, electronic
lists of medications taken by patients.
“An Electronic Health Record (EHR) is an electronic
version of a patient’s medical history, that is maintained
by the provider over time, and may include all the key
administrative clinical data relevant to that person’s care
under a particular provider…The EHR automates access
to information and has the potential to streamline the
clinician’s workflow. The EHR also has the ability to
support other care-related activities directly or indirectly
through various interfaces, including evidence-based
decision support, quality management, and outcomes
reporting.”
- Centers for Medicare & Medicaid Services
17%
78%
9%
96%
2008 2015
Physicians Hospitals
Post HITECH – Adoption of
certified EHRs
Pre HITECH – Adoption of
basic EHRs
EHR Adoption1 Among Physicians and Hospitals

Incentives Not Aligned
EHR Incentive Programs (EH and/or EP)
Stage 1
Stage 2
Family health history
included as a menu
objective for EPs and
EHs; only requires one
structured data entry for
one first-degree relative
Modified Stage 2
Stage 3 c
Incorporation of Family History Requirements in the EHR Incentive Programs and CEHRT
Certified Electronic Health Record Technology
(CEHRT)
2014 Edition
Requires EHRs to, at a
minimum, be capable of
recording information about
a patient’s first degree
relative using either
SNOMED CT or the HL7
Pedigree standard;
additionally EHRs must
permit a user to change and
access the information
2015 Edition
Requires EHRs to enable a
user to record, change, and
access a patient’s family
health history electronically
using updated SNOMED CT
(September 2015 Release)

Challenges to Family History Remain
85%
Of women undergoing
mammographies for were missing
critical family history data in the
EHR
Incomplete family histories
Michelle Lardner, Deputy CIO, NIH
No major EHR vendor has
native genomics tools or
functionality…besides family
history documentation, there
is no place to create or
document pedigree.
Lack of advanced functionalities
Welch BM, et al.,
Journal of Genetic Counseling, 2018
Despite the fact that…FHx
tools support HL7 standards,
integration with EHRs is still a
challenge
Lack of integration
Commonly Cited Challenges Related to Family History in the EHR

Future Opportunities
Health reform (e.g., QPP)
- Specific measures within the MIPS encourage
increased patient engagement and integration with
third party tools (e.g., Advancing Care Information
measure ACI_CCTPE_3 requires that patient-
generated health data or data from a non-clinical
setting is incorporated into the certified EHR
technology)
- Overall increased focus on population health
management and accountable care incentivize
prevention and early detection
Technological advancements
- Increase in the number of validated family history
collection tools available on the market today,
including patient-facing tools
- Improved integration capabilities with SMART on
FHIR and pluggable apps
Regulatory and Technological Opportunities to Improve Family History

First Look: The NCCRT Risk
Assessment and Screening
Toolkit to Detect Familial,
Hereditary, and Early
Onset Colorectal Cancer
Emily Edelman, MS, CGC
April 26, 2018

Disclosures
No conflicts to disclose.
The Jackson Laboratory is a nonprofit biomedical
research institution.
JAX Education does not aim to increase use of
commercial products or services.

Agenda
Current use of CRC family history (FH)
Electronic health record (EHR) opportunities
Presentation of new toolkit
Family history tools
Next steps for dissemination and implementation
Limitations and future opportunities

Current state of FH collection
Among individuals with a family history of CRC:
o <50% received appropriate screening
o <40% have talked with a clinician about their family history
Among individuals presenting with rectal bleeding
o <40% have insufficient family history info documented to
complete evaluate
Fletcher 2007 JGIM; Cameron 2014 Patient Educ
Couns; Weingart 2017 Jt Comm J Qual Patient Saf

Complex barriers to clinical integration
52.6%
47.4%
44.7%
28.9%
PCP perceived barriers to integration
Knowledge/
skills
ELSI Systems Evidence
Mikat-Steven 2014

A family history solution for primary care
should address known barriers
Provide education to build skills, point of care
tools
Translate evidence-based guidelines on FH
collection and risk assessment
Practical guidance on establishing FH
processes and best practices
o Identify opportunities to leverage the EHR and
electronic tools and algorithms
o Collaborating with genetic and cancer specialists

Overall Goal
Develop a system that helps practices:
Identify patients at increased/high risk
based on personal and family history
Apply screening guidelines based on risk
Refer high risk patients to genetics
Recognize and rapidly diagnose patients
with a presenting CRC

Toolkit in Action
Maya
Reason for visit
Establishing care
Medical hx
34 yo
Social hx
Married, one son
Family hx
Father with CRC @ 62

Establish a system for
structured assessment
Develop a team-based approach to family
history collection and interpretation.
Use the EHR and/or external tools to assist in
family history collection and risk assessment.
Standardize how and where family history
data is recorded in the medical record to
increase the usability of this information.

Implementation
support and training

Use a tool to aid in family history
collection and risk assessment
High
Increased
Average
Maya
34 y
d. 50s
dx. 50s
dx. 43
60s
dx. 50s
101
64
Hypothyroid
65
dx 62
80s80sd. 50
pneumonia
d. 70s
70
50s
2
37
S.E. Asian

No one size fits all solution
Cancer risk assessment systems
Cancer Gene Connect (Invitae)
Cancer IQ
CRA Health
Family History Tool (Myriad)
Progeny (Ambry)
Patient-centered collection tools
Electronic
My Family Health Portrait
It Runs in My Family
Paper
Does It Run in the Family?
Family Health Workbook
SHARE workbook
Primary care assessment systems
Family Healthware
MeTree
MyLegacy
Risk calculator
NCI CRC Risk Assessment Tool
Hereditary cancer mutation predictors
MMRPredict
MMRPro
PREMM1,2,6
PREMM5
Patient-centered questionnaires
CRC Risk Assessment Checklist
Columbia 3-question survey
SHARE workbook
Simple FH Screening Tool for CRC
UM 5-question survey
User-friendly Lynch syndrome tool
https://tinyurl.com/ycqeko6h

Example: Evaluating FH tools
Practice’s FH goals
o Identify patients at increased or high risk
o Apply screening guidelines to patients based on risk level
o Refer high risk patients to genetic services for further evaluation, counseling, and testing
Desired FH tool features
 Structured collection of 1st and 2nd degree relatives
 Patient-entered collection
 Electronic questionnaire
 Risk assessment support
 Free

Example
Using the FH Tool Features
Worksheet, the practice can
identify the tools that meet
their desired needs:
1. CancerGene Connect/Invitae
2. CRA Health
3. My Family Health Portrait
4. Myriad Family History Tool
5. Progeny/Ambry
The practice reviews and tests
the tools to select one for use.
https://tinyurl.com/ycqeko6h

Establish a system:
additional components
Select a set of CRC screening guidelines.
Identify genetic and cancer specialists.
Identify patient support materials and
evidence-based interventions that can
increase CRC screening adherence.
Evaluate process and outcomes.

Assess risk
Collect sufficient family history to enable
risk assessment.
Assess patterns and red flags.
Assign to risk category: Average, increased
(moderate or familial), high (hereditary).

Maya’s Family History
Father: 65 y/o, CRC dx 62
Paternal aunt: Died in 50s due to
endometrial cancer dx 50s
Paternal uncle: 60s, gastric cancer
dx 50s
Paternal cousin: 44 y/o, CRC dx
43
Endometrial Cancer
Gastric Cancer
Colon Cancer
Maya
34 y
d. 50s
dx. 50s
dx. 43
60s
dx. 50s
101
64
Hypothyroid
65
dx 62
80s80sd. 50
pneumonia
d. 70s
70
50s
2
37
S.E. Asian

Identify genetic red flags and
patterns
Endometrial Cancer
Gastric Cancer
Colon Cancer
Maya
34 y
d. 50s
dx. 50s
dx. 43
60s
dx. 50s
101
64
Hypothyroid
65
dx 62
80s80sd. 50
pneumonia
d. 70s
70
50s
2
37
S.E. Asian  Family history of multiple
affected relatives
 Earlier age at onset of
disease than expected

Colon, endometrial, and gastric cancers are
associated in Lynch syndrome

Maya is at high risk
Multiple affected relatives
Early age of onset
Possible dominant pattern of
associated cancers

Communicate risk & manage
patient based on risk
Develop personalized plan for cancer screening,
surveillance, and prevention, and genetic referral.
Recommend colonoscopy for increased risk
individuals.
Communicate risk levels and management
recommendations.
Tailor risk communication to patient and needs.
Recommend patients share risk information with
relatives.
Evaluate patients with alarm signs and symptoms
for CRC

Stepwise instruction
Implementation
support and training

Maya is a candidate for cancer
genetic evaluation & testing
Referral to cancer genetics
Genetic counseling
Genetic testing for Lynch syndrome,
and potentially other genes
Personalized management, prevention
and surveillance

Maya has homework
Talk to family members with
cancer
Learn more about cancer history
Be aware testing may be
recommended for affected
relatives first

Should I have a
hysterectomy
now?
Is it dangerous
to have more
children?
What does this
mean for my
son?
Is there
anything I can
do to stop
cancer?
If gene-positive,
Maya has
questions

Early onset CRC is on the rise
Recognize that the incidence of CRC is increasing in individuals under age 50.
Be aware that a substantial proportion of early onset CRC may be prevented or
detected at an earlier stage by identifying people with a family history of cancer
and adenomas.
Regardless of age, consider CRC in the evaluation of patients with alarm signs and
symptoms, including:
o blood in the stool
o recent-onset and persistent or progressive diarrhea/constipation
o persistent or progressive abdominal pain
o abdominal mass
o unexplained iron deficiency anemia
o unexplained weight loss

A comprehensive family history
and early onset CRC toolkit

Toolkit design supports applying skills and
implementing processes and tools
Step-wise instruction to help practices:
o Establish a structured process
o Improve clinical skills
Tools and worksheets with worked examples
Case studies and tips
Appendix of guidelines, educational resources and websites

Looking ahead
Launch at nccrt.org
o In coordination with release of updated ACS CRC screening
guidelines
Dissemination
Implementation
o Looking for interested practices and partners!
Evaluation

Toolkit limitations
FH and EAO focus, not comprehensive to include all aspects of cancer
genetics
CRC focus rather than comprehensive risk assessment across conditions
Limited evidence-based best practices
Family history tools and EHR limitations
Assumes organizational buy-in
Practice variation, assumes need for some customization and
modifications based on experience

Opportunities for the future
1. Validate CRC FH screening tools in toolkit for primary care.
2. Develop an electronic version of FH screening tools and/or provide them to EHR
vendors.
3. Develop a CRC risk assessment calculator for providers that integrates personal history,
lifestyle risk factors, and family history for use in the general population.
4. Implement the toolkit and evaluate the process of implementation.
5. Collaborate with professional societies and other stakeholders to develop a
comprehensive risk assessment tool or process that includes CRC along with other
conditions.
6. Develop an awareness campaign about EAO CRC for front line providers.
7. Further evaluate needs and opportunities related to patient education and engagement
re: FH.
8. Provide minimum requirements and best practices regarding FH to EHR vendors.
9. Research solutions for portability of family history across EHRs and health systems.

Acknowledgements
Authors
Emily Edelman, MS, CGC
Therese Ingram, MA
Kate Reed, MPH, ScM, CGC
Linda Steinmark, MS, LCG
Paige Tanner, BS
NCCRT FH-EAO Task Force
Leadership
Dennis Ahnen, MD
Paul Schroy, MD, MPH
Thomas Weber, MD, FACS
Advisors
Cindy Borassi
Anjee Davis, MPPA
Robin Dubin, MBA
Greg Feero, MD, PhD
Stephanie Guiffre, MPA
Heather Hampel, MS, LGC
Djenaba Joseph, MD, MPH
Xavier Llor, MD, PhD
Susan Miesfeldt, MD
Martha Raymond, MA, CPN
Michelle Tropper, MPH
Jennifer Weiss, MD
Reviewers & Contributors
Siobhan Dolan, MD, MPH
Caitlin Gutheil, MS
Paul Han, MD, PhD
Kenneth Lin, MD, MPH, FAAFP
Leigh LoPresti, MD
Natalie Mikat-Stevens, MPH
Trudie Milner, PhD
Randa Sifri, MD
Alissa Terry, ScM, CGC
Primary care interview participants
NCCRT & ACS Leadership
Caleb Levell
Mary Doroshenk, MA Rebecca
Siegel, MPH
Durado Brooks, MD, MPH
Robert Smith, PhD
Funding
This toolkit was supported by the Grant or Cooperative Agreement
Number, DP004969-04, funded by the Centers for Disease Control
and Prevention.

Thank you!
Emily Edelman
emily.edelman@jax.org
207-288-6972

Toolkit goals & objectives
Goals
• Enable primary care providers to implement a structured family history collection and screening
process for familial, hereditary, and early onset cancer
• Facilitate timely diagnostic evaluation of patients with signs or symptoms of early onset CRC
Learning objectives
1. Create a system to integrate family history collection and screening into practice flow
2. Identify patients at increased or high risk based on personal and/or family history
3. Apply screening guidelines to patients at increased and high risk
4. Refer high risk patients to genetic services for further evaluation, counseling, and testing
5. Include CRC in the differential diagnosis of adults under age 50 with alarm signs and
symptoms

Development process
Needs assessment
o Literature review
o Environmental scan of tools
and resources
o Identification of best
practices in primary care
o Interviews with PCPs
Design: Identify learning
objectives, content, and
instructional strategy
Develop content, adapt
existing content as indicated
Iterative review and revisions
o content review with experts
o target audience review
o NCCRT advisor review

FH tools for primary care
Desired features of a FH tool for primary care
Structured collection of 1st and 2nd degree
relatives
Clinical decision support
Patient entered collection Validated for primary care
Electronic and paper collection options Maintained technology and clinical
content
Electronic risk assessment EHR integration
Risk stratification to separate categories:
average, increased, high
Patient/health system owns data
Personal as well as FH risk Free
Assesses multiple conditions Spanish/ other language versions available

THANK YOU
For permission to share these slides please contact
Cindy Borassi, Executive Director, Colon Cancer Foundation
info@coloncancerchallenge.org
4TH ANNUAL EARLY AGE ONSET
COLORECTAL CANCER SUMMIT
#EAOCRC18

4th Annual Early Age Onset Colorectal Cancer Summit: Transforming Family Health History Ascertainment and Colorectal Cancer Preventive Services in Primary Care An Update from the NCCRT Family History Early Age Onset Task Group.

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