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Transcript
COLARIS AP® – SAMPLE LMN #4
For patients with a suspected diagnosis of familial adenomatous polyposis
20-99 colorectal adenomatous polyps
[Date]
ATTN: [Physician Name, M.D.]
[Insurance Company/Institution]
[Street Address]
[City, State, Zip]
Re:
[Patient Name or ID/Claim Number]
Dear Medical Director:
I am writing to request coverage for analysis of the APC and MYH genes for
__________________________________________________due to a personal history
of ________________________________________________________ diagnosed at
age(s) ______________________________. Additional family history includes:
Relationship___________________ Cancer or Adenoma ___________ Age____
Relationship___________________ Cancer or Adenoma ___________ Age____
Relationship___________________ Cancer or Adenoma ___________ Age____
The number of adenomatous colorectal polyps detected in this patient (##) thus far is
suggestive of mutations in the APC and MYH genes. Mutations in the APC gene are
responsible for Familial Adenomatous Polyposis (FAP), which is characterized by a
proliferation of adenomatous polyps throughout the colon and rectum. The clinical
features of some individuals and families with mutations in the APC gene can be less
dramatic (fewer numbers of polyps, later age of polyp onset, etc.). Therefore, the
number of adenomatous colorectal polyps detected in this patient (##) thus far, is
suggestive of a mutation in the APC gene. Carriers of APC mutations have a greater
than 90% chance of colorectal cancer before age 50 unless a prophylactic colectomy is
performed. Individuals who carry an APC gene mutation also are at significant risk to
develop extracolonic cancers following prophylactic colectomy. The risk of an
extracolonic cancer in individuals with FAP is 11% by age 50 and 52% by age 75.
These risks warrant specific screening for cancers rarely seen in the general population
including duodenal cancer.
Biallelic mutations in the MYH gene are associated with the presence of multiple
colorectal adenomas and cancer. In addition, patients may present with extracolonic
disease similar to patients with familial adenomatous polyposis (FAP), including
duodenal polyposis. Current medical management recommendations suggest that
individuals who have inherited two mutations in the MYH gene be managed similarly to
individuals who carry an APC gene mutation, including frequent colonoscopies and
upper GI endoscopy, with the option of colectomy.
Based on the above stated cancer risks and the aggressive surgical and screening
recommendations that result from these risks, I am recommending genetic testing for
mutations in the APC and MYH genes to confirm a diagnosis of polyposis. The
information gained from genetic testing will have a significant impact on both the
patients’ short- and long-term medical management.
[include as appropriate]
According to the American Gastroenterological Association Medical Position Statement,
APC gene testing is “the screening test of choice” and is indicated for “those 10 years or
older at risk for FAP” (AGA Position Statement, Gastroenterology 121:195-197, 2001).
These guidelines also state that screening of the colon and rectum for polyps should
begin approximately at age 10. Therefore, genetic testing of at-risk family members is
recommended by 8-12 years of age. The information gained from genetic testing will
therefore likely have a significant impact on the patient’s short- and long-term medical
management. A negative genetic test in the relative of a known mutation carrier can
alleviate the need for annual lifetime surveillance (sigmoidoscopy) commencing in
childhood.
Myriad Genetic Laboratories performs comprehensive analysis of the APC and MYH
genes. Sequence analysis is the most sensitive clinical test to look for predisposition
mutations and is one of the most complex clinical diagnostic tests that exists today. The
technical challenge of traditional DNA analysis represented as "usual and customary"
should not apply to the complex analysis involved with APC and MYH analysis.
Thank you for your consideration of this case. Please feel free to contact me directly if I
can be of any further assistance in your decision for coverage.
Sincerely,
[Physician Signature]