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© 2016 by the American College of Gastroenterology The American Journal of GASTROENTEROLOGY
THE RED SECTION
DIGITAL DIALOGUE
Colorectal cancer (CRC) is the second leading cause of cancer-
related mortality in the U.S. (1). Approximately 5–6% of people
with CRC have hereditary cancer syndromes, including Lynch
syndrome, familial adenomatous polyposis (FAP), or MUTYH-
associated polyposis (MAP) (2). Tese people are ofen not identi-
fed in routine practice (3).
Families with inherited cancer syndromes were traditionally
identifed through clinical criteria. Tere is growing enthusiasm
for refex colorectal tumor screening for Lynch syndrome (4–6).
Cancer gene panel testing is being used increasingly (7,8). How-
ever, these strategies do not address the question of risk assessment
in people without cancer or outside the setting of a cancer genetics
consultation. A three-question CRC Risk-Assessment Tool deve-
loped to identify people at very high risk for CRC who might
beneft from further risk assessment and genetic evaluation (9)
could be useful in routine practice.
Open-access colonoscopy (i.e., no preceding ofce visit) has
become widely accepted in the U.S. Tis presents an opportunity
to screen patients for genetic CRC syndromes. Our aim was to
assess the feasibility and yield of establishing a system for identify-
ing people at high risk for CRC in a busy community-based, open-
access colonoscopy setting.
METHODS
Huron Gastroenterology Associates, a private community-based
practice with sixteen gastroenterologists, is part of the Saint
Joseph Mercy Health System in Ann Arbor, MI. We perform
>10,000 colonoscopies annually. Saint Joseph Mercy Health
System has a Cancer Genetics Program (CGP) stafed by one
full-time genetic counselor.
An Electronic Health Records-Based Risk-Assessment System
(EHR-RAS) was implemented in our open-access colonoscopy
practice. Te screen was applied to all patients referred for open-
access colonoscopy from September 2012 to March 2013, and their
subsequent management was ascertained prospectively. To com-
pare the yield of the EHR-RAS with routine care, a retrospective
chart review was performed for patients referred for open-access
colonoscopy from March to August 2012.
Saint Joseph Mercy Health System’s Institutional Review Board
approved the study protocol.
Te three -question CRC Risk-Assessment Tool developed by
Kastrinos et al. (9) ( Figure 1) was incorporated into the electronic
template used during our routine scheduling process. If a patient
answered “Yes” to at least one screening question, an automated
EHR-RAS alert was sent instantly to the patient’s endoscopist
( Figure 2), and at the time of colonoscopy the endoscopist was
provided with a printed form to encourage discussion with the
patient ( Figure 3). Te decision to refer a patient to the CGP was
lef to the endoscopist.
All schedulers were trained in the administration of the ques-
tions, and all endoscopists were educated on the EHR-RAS and
the role of the CGP.
A direct referral system to the CGP was established, and
endoscopists were encouraged to refer all high-risk patients. Upon
referral, a detailed questionnaire was sent to patients. Question-
naire completion was used as a marker of patient motivation to
pursue genetic counseling, and people who completed the ques-
tionnaire were ofered a counseling appointment. Te appoint-
ment included risk evaluation, discussion, and recommendations.
Among patients with possible Lynch syndrome, those who met
the Revised Bethesda guidelines or Amsterdam II criteria or had
a calculated risk of carrying a Lynch syndrome-associated muta-
tion of >7% using the MMRPro model or >5% using the PREMM
(1,2,6) model were ofered further testing. Tumor testing for
microsatellite instability or for the Lynch syndrome gene protein
Screening for Cancer Genetic Syndromes
With a Simple Risk-Assessment Tool in a
Community-Based Open-Access Colonoscopy
Practice
Naresh T. Gunaratnam, MD
1, 2
, Mehmet Akce, MD
2
, Riad Al Natour, MD
2
, Angela N. Bartley, MD
3
, Ann F. Fioritto, BS
1
,
Kristen Hanson, MS, CGC
4
and Uri Ladabaum, MD, MS
5
Am J Gastroenterol advance online publication, 29 March 2016; doi:10.1038/ajg.2016.84
1
Huron Gastroenterology Associates, Ypsilanti, Michigan, USA;
2
Department of Internal Medicine, Saint Joseph Mercy Hospital System, Ann Arbor, Michigan,
USA;
3
Department of Pathology, Saint Joseph Mercy Hospital System, Ann Arbor, Michigan, USA;
4
Division of Oncology, Saint Joseph Mercy Hospital System,
Ann Arbor, Michigan, USA;
5
Division of Gastroenterology and Hepatology, Stanford University School of Medicine, Stanford, California, USA. Correspondence:
Naresh T. Gunaratnam, MD, Huron Gastroenterology Associates, 5300 Elliott Drive, Ypsilanti, Michigan 48197, USA. E-mail: gunaratnamn@hurongastro.com