GI – SAMPLE LETTER OF MEDICAL NECESSITY – COLARIS
NOTE TO THE HEALTHCARE PROVIDER: The following is an example template for
a letter of medical necessity for possible use when testing medically appropriate
patients. This may not include all the information necessary to support the coverage
request. Healthcare providers are responsible for ensuring the accuracy and
supportability of all information provided.
[Physician Letterhead]
[Date]
ATTN: [Physician Name, M.D.]
[Medical Director]
[Insurance Company/Institution]
[Street Address]
[City, State, Zip]
Re:
[Patient Name, Date of Birth, ID Number]
Dear Medical Director:
I am writing to request coverage for genetic testing of MLH1, MSH2, MSH6, PMS2 and EPCAM,
the genes associated with Lynch syndrome, also known as Hereditary Non-Polyposis Colorectal
Cancer (HNPCC). The test I have ordered to evaluate my patient is called COLARIS. I have
determined that this test is medically necessary for the above patient due to the following history
which is suggestive of this condition:
Patient Information: [choose one or both of the following tables]
[Relevant cancers include: colorectal, endometrial, ovarian, stomach, kidney/urinary tract, biliary tract, small bowel,
central nervous system, pancreatic and sebaceous adenoma/carcinoma; specify maternal or paternal relatives;
specify multiple primary cancers.]
Personal History
Cancer or Adenoma Site
Dx Age
Family History
First-, Second-, or
Third-Degree Relative
(Maternal Side or Paternal)
Relationship
Cancer or Adenoma Site
Dx Age
[Patient Information – Cut if not applicable to your patient] This patient’s [or substitute
“the relative’s”] tumor testing is suggestive of Lynch syndrome because [select one or more
bullets]



The tumor shows microsatellite instability
Immunohistochemistry of the tumor shows loss of staining of [select one or more]
MLH1/MSH2/MSH6/PMS2.
Histology of the tumor is indicative of Lynch syndrome
[Patient Information - Cut if not applicable to your patient] According to the NCCN
Guidelines v1.2014 for Genetic/Familial High-Risk Assessment: Colorectal, individuals with a
≥5% risk of a Lynch syndrome mutation using any mutation prediction model (eg, MMRpro,
PREMM[1,2,6], MMRpredict) meet clinical testing criteria. Based on the PREMM1,2,6 model
(http://premm.dfci.harvard.edu/) [if a different model was used, insert the name here] the
chance of a Lynch syndrome mutation in this individual is ____________. Dinh et al. showed
that testing is cost effective when this estimate exceeds 5%, with an average cost effectiveness
ratio of $26,000 per QALY. (Cancer Prev Res 2010;4(1):1–13)
[Patient Information - Cut if not applicable to your patient] This patient has not been
affected with cancer, but has a family history of cancer that meets commonly accepted societal
guidelines for evaluation of Lynch syndrome. My patient’s relatives who have had a Lynch
syndrome-associated cancer are not available for testing because: [choose one]
_____ They are deceased
_____ My patient does not have any contact with the affected relatives
_____ The affected relatives refused testing or have specifically refused to share their testing
history or results with my patient
_____ Other: ______________________________
Explanation of Need:
Individuals who carry a Lynch syndrome mutation have lifetime cancer risks of up to 82% for
colorectal cancer and up to 71% for endometrial cancer, as well as an increased risk for
ovarian, stomach and other cancers. In addition, mutation carriers who have already been
diagnosed with cancer have a significantly increased risk of developing another primary cancer.
Because medical society guidelines recommend an aggressive approach to medical
management for individuals identified as having a genetic mutation, test results are necessary in
choosing the most appropriate course of treatment and/or surveillance.
Several professional societies, including those listed below, have published guidelines for
testing and managing patients with Lynch syndrome (HNPCC) and these societies recommend
that genetic testing be offered to individuals with suspected inherited cancer risk in whom the
test results will aid in medical management decision-making:
-
The National Comprehensive Cancer Network
The American Society of Gastrointestinal Endoscopy (Joint with American Cancer Society, US MultiSociety Task Force on Colorectal Cancer and American College of Radiology)
The American Gastrointestinal Association
The American Society of Colon and Rectal Surgeons
The Collaborative Group of the Americas on Inherited Colorectal Cancer\
The American Society of Clinical Oncology
For this patient in particular, the genetic test results are needed in order to consider:
[Please check all that apply]
____ Subtotal colectomy
____ Annual colonoscopy
____ Upper endoscopy surveillance
____ Surveillance for increased endometrial and ovarian cancer risk
____ Prophylactic hysterectomy and bilateral salpingo-oophorectomy
____ Surveillance for urinary tract cancer
____ Other [describe] _________________________________________________
The patient has provided informed consent to pursue genetic testing, based on my discussion of
the personal and/or family history, the potential test results, and the implications for medical
management. Additional societal support is provided in the following pages.
Please do not hesitate to contact me if I can provide you with any additional information.
Sincerely,
[Physician Signature and Name]
Society Support:
[Optional Support Section 1 – cut if not applicable to your patient] According to the National
Comprehensive Cancer Network (NCCN) Guidelines for Colorectal Cancer Screening1,
testing for Lynch syndrome (HRS-1):



Testing for individuals who meet Revised Bethesda Guidelines (LS-B) and are MSI high or have an
absence of staining on IHC. Bethesda guidelines as follows:
o Colorectal cancer diagnosed in a patient who is less than 50 years of age
o Presence of synchronous, metachronous colorectal or other LS-associated tumors (LS-related
tumors include colorectal, endometrial, stomach, ovarian, pancreas, ureter and renal pelvis, biliary
tract, and brain (usually glioblastoma), sebaceous gland adenomas and keratoacanthomas and
carcinoma of the small bowel), regardless of age
o Colorectal cancer with the MSI-H histology (presence of tumor infiltrating lymphocytes, Crohn’s-like
lymphocytic reaction, mucinous/signet-ring differentiation, or medullary growth pattern) diagnosed
in a patient who is less than 60 years of age
o Colorectal cancer diagnosed in one or more first degree relatives with an LS-related tumor, with
one of the cancers being diagnosed under age 50 years
o Colorectal cancer diagnosed in two or more first- or second-degree relatives with LS related
tumors, regardless of age.
Testing for individuals who meet Amsterdam I (LS-C) or Amsterdam II (LS-C) criteria in which tumor
testing is not available. Revised Amsterdam criteria as follows:
- ≥3 relatives with an Lynch sydrome-associated cancer (colorectal, endometrial, small bowel,
uteter or renal pelvis), plus all of the following:
- One of whom is a first degree relative of the other two:
- at least two successive generations affected;
- at least one of the affected relative diagnosed with an LS- associated cancer should be
diagnosed before 50 years of age years
- FAP excluded in any case of colorectal cancer
- Tumors should be verified whenever possible
At risk family members in families with a known mutation
*LS related tumors include colorectal, endometrial, stomach, ovarian, pancreas, ureter and renal pelvis, biliary tract, and brain (usually glioblastoma),
sebaceous gland adenomas and keratoacanthomas and carcinoma of the small bowel
Discussion Section (MS-16):

An alternative approach is to go directly to germline sequencing in patients determined to have a >5% risk of
Lynch syndrome when a tumor is not readily available.
[Optional Support Section 2 – cut if not applicable to your patient] According to guidelines of
the National Comprehensive Cancer Network and the Society of Gynecologic
Oncologists, women diagnosed with endometrial cancer under age 50 are appropriate
candidates for Lynch syndrome evaluation.
[Optional Support Section 3 – cut if not applicable to your patient] According to guidelines of
the American Society of Gastrointestinal Endoscopy: Position Statement (Joint with
American Cancer Society, US Multi-Society Task Force on Colorectal Cancer and American
College of Radiology)2, testing for Lynch syndrome:
-
1
2
Testing should be offered when the family mutation is not known, but 1 of the first 3 Bethesda
criteria is present. Bethesda:

Colorectal cancer diagnosed <50y

Presence of synchronous or metachronous Lynch-syndrome cancers, regardless of age

Colorectal cancer with MSI-H histology diagnosed <60y
NCCN. National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology- V.1.2014.
Levin B, Lieberman DA, McFarland B, et al. Screening and surveillance for early detection of colorectal cancer and
adenomatous polyps, 2008: A joint guidelines from the American Cancer Society, the US Multi-Society Task Force on
Colorectal Cancer, and the American College of Radiology. CA Cancer J Clin. 2008;58:130-160.
[Optional Support Section 4 – cut if not applicable to your patient] According to guidelines of
the American Gastrointestinal Association Position Statement: Hereditary Colorectal Cancer
and Genetic Testing3 4, testing is recommended for HNPCC (Lynch syndrome) in:



Affected individuals in families meeting Amsterdam or Amsterdam II criteria as follows (must meet
all):
o ≥3 relatives with colorectal cancer or another HNPCC associated malignancy (including cancer of
the endometrium, small bowel, ureter, or renal pelvis), 1 of whom is a first degree relative to other 2
o ≥2 generations affected
o ≥1 affected relative received colorectal cancer diagnosis <50 years old
o FAP excluded in any case of colorectal cancer
o Tumors verified by pathologic examination
Affected individuals meeting Bethesda criteria modified (must meet 1 of the following):
o Individuals with cancer in families that meet Amsterdam Criteria
o Individuals with 2 HNPCC associated cancers (including synchronous/metachronous colorectal
cancer, endometrium, ovarian, gastric, hepatobiliary, or small-bowel cancer or transitional-cell
carcinoma of the renal pelvis or ureter)
o Individuals with colorectal cancer and a first degree relative with colorectal cancer and/or HNPCCrelated extracolonic cancer and/or colorectal adenoma; one of the cancers diagnosed at age <45
years, and the adenoma diagnosed <40 years
o Individuals with colorectal or endometrial cancer diagnosed at <50 y.o.
o Right sided colorectal cancer with undifferentiated pattern on histology <50 y.o.
o Signet cell type colorectal cancer <50 y.o.
o Colorectal adenoma <40 y.o.
First degree adult relative of an individual with a known mutation
[Optional Support Section 5 – cut if not applicable to your patient] According to Medicare
Criteria for Hereditary Colorectal Cancer Genetic Testing5, Testing for Hereditary Non-polyposis
Colorectal Cancer (HNPCC): COLARIS

Amsterdam II
o Personal history of colorectal or endometrial cancer plus ONE of the following
o ≥2 relatives with an HNPCC-associated cancer (colorectal, endometrial, stomach, ovarian, small
bowel, uteter, renal pelvis, biliary tract or glioblastoma), plus all of the following:

One of whom is a first degree relative of the other two:

≥ Two successive generations affected;

≥ One affected relative diagnosed with colorectal cancer <50 years: AND

FAP excluded in any case of colorectal cancer

Revised Bethesda
o Colorectal cancer diagnosed in a beneficiary at <50y
o Presence of synchronous or metachronous Lynch-syndrome cancers, regardless of age
o Colorectal cancer with MSI-H histology diagnosed in a beneficiary <60y
o Colorectal cancer with > 1 first degree relative with LS cancer, one of which was diagnosed <50y
o Colorectal cancer with > 2 first degree relatives with LS cancers, regardless of age

Has a blood relative with a known Lynch syndrome-related gene mutation

Endometrial cancer diagnosed in a beneficiary at <50y

If Revised Bethesda criteria met, then MSI and/or IHC can be performed on colorectal cancer tissue
o If MSI-H and/or loss of IHC staining in colon tumor
* If MLH1, MSH2, and MSH6 testing performed and negative then testing for PMS2 gene mutations.
3
AGA. American Gastroenterological Association medical position statement: hereditary colorectal cancer and
genetic testing. Gastroenterology. 2001;121:195-197.
4
Winawer S, Fletcher R, et al. Colorectal cancer screening and surveillance: clinical guidelines and rationale-update
based on new evidence. Gastroenterology. 2003;124:544-560.
5
Summary of Medicare Criteria for Genetic Testing. Medicare policy. Effective June 15, 2011.
[Optional Support Section 6 – cut if not applicable to your patient] According to the Society of
Gynecological Oncologists (SGO) Education Committee6, testing for Lynch syndrome is
recommended in the following patients:





Patients with endometrial or colorectal cancer who meet the revised Amsterdam criteria:
o At least 3 relatives with a Lynch-associated (colorectal, endometrial, small bowel, ureter and renal
pelvis) cancer in one lineage
o One affected individual should be a first-degree relative of the other two
o At least 2 successive generations should be affected, and
o At least 1 Lynch-associated cancer should be diagnosed before age 50
Patients with endometrial and colorectal cancer with the first cancer diagnosed prior to age 50
Patients with ovarian and colorectal cancer with the first cancer diagnosed prior to age 50
Patients with colorectal or endometrial cancer with evidence of a mismatch repair defect (i.e. Microsatellite
instability (MSI) or immunohistochemical loss of expression of MLH1, MSH2, MSH6 or PMS2)
Patient with a first or second degree relative with a known mismatch repair gene mutation
The SGO suggests that testing for Lynch syndrome in the following patients may also be helpful:

Patients with endometrial or colorectal cancer diagnosed prior to age 50

Patient with endometrial or ovarian cancer and colon or other Lynch-associated tumor at any age

Patients with endometrial or colorectal cancer and a first degree relative with a Lynch-associated tumor
diagnosed prior to age 50

Patients with colorectal or endometrial cancer diagnosed at any age with 2 or more first or second degree
relatives with Lynch-associated tumors, regardless of age

Patients with a first or second degree relative that meets the above criteria
Lynch –associated tumors include colorectal, endometrial, stomach, ovarian, pancreas, ureter and renal pelvis, biliary
tract, and brain (usually glioblastoma), sebaceous gland adenomas and keratoacanthomas and carcinoma of the
small bowel
[Optional Support Section 7 – cut if not applicable to your patient] According to the American
Society of Colon and Rectal Surgeons and the Collaborative Group of the Americas on
Inherited Colorectal Cancer Practice Parameters for Testing of Patients at Risk for Inherited
CRC7, testing for HNPCC (Lynch syndrome):


Offer genetic testing to patients in families that meet Amsterdam Criteria as follows (must meet all):
o At least three affected relatives (with CRC); two are first-degree relatives of the other one.
o At least two successive generations affected
o Colorectal cancer diagnosed <50 years in at least one family member
o No evidence of FAP
Consider MSI for families with clinical pattern suggestive of HNPCC, but not strong enough to meet
Amsterdam
[Optional Support Section 8 – cut if not applicable to your patient] According to the American
Society of Clinical Oncology 2003 Guidelines8, COLARIS and COLARIS AP testing meet
ASCO genetic testing guidelines as follows:
o
o
o
Individuals can be identified with personal or family history features suggestive of hereditary cancer
risk
Test can be adequately interpreted
Test result will aid in diagnosis or influence medical management of the patient and family
6
The Society of Gynecologic Oncologists Education Committee Statement on Risk Assessment for Inherited
Gynecological Cancer Predispositions. Gyn Onc; 107(2007): 159-162.
7
Standard Task Force; American Society of Colon and Rectal Surgeons; Collaborative Group of the Americas on
Inherited Colorectal Cancer. Practice parameters for the identification and testing of patients at risk for dominantly
inherited colorectal cancer. Dis Colon Rectum. 2001;44(10):1403.
8
ASCO. American Society of Clinical Oncology policy statement update: Genetic testing for cancer susceptibility. J
Clin Oncol 2003; 21(12):2397-2406.