abstract
CONTEXT AND QUESTION ASKED:
Genetic testing can be used in the diagnosis of
Lynch syndrome, formerly known as
hereditary nonpolyposis colorectal cancer (CRC), the most common inherited disorder that increases the risk for CRC; however, test results related to
Lynch syndrome screening may also be used for predictive and prognostic purposes in patients with stage II CRC. Although national
guidelines recommend the use of several genetic and molecular tests for patients with CRC, little is known about how
guidelines, particularly the complex testing recommendations for
Lynch syndrome,
are translated into clinical practice. In this study, we asked:
how
does the family history of patients with stage II CRC influence medical
oncologists' selection of genetic and molecular testing, both related
and unrelated to Lynch syndrome?
SUMMARY ANSWER:
We found that oncologists' self-reported ordering of
Lynch syndrome-related
tests was strongly associated with the strength of CRC family history,
but even so, not all oncologists would order germline testing for
mismatch repair (MMR) genes, much less screen for
Lynch syndrome by ordering microsatellite instability and/or immunohistochemistry for
MMR proteins, in a patient scenario with the strongest family history of
CRC (Table 2)....
METHODS:
In
2012 and 2013, we surveyed medical oncologists in the Cancer Care
Outcomes Research and Surveillance Consortium (CanCORS) and evaluated
their selection of microsatellite instability and/or
immunohistorchemistry for MMR proteins, germline testing for MMR genes,
BRAF and KRAS mutation analysis, and Oncotype DX in stage II CRC......
BIAS, CONFOUNDING FACTORS, DRAWBACKS:
Although
we surveyed a large cohort of oncologists from diverse geographic and
practice settings, there were several limitations to this study.....
REAL-LIFE IMPLICATIONS:
The
high lifetime risk of CRC and other cancers among affected individuals
and family members and low detection rates led the Centers for Disease
Control and Prevention to recommend universal
Lynch syndrome
screening of all patients newly diagnosed with CRC. Previous efforts to
increase the identification of patients and family members with
Lynch syndrome
have unfortunately achieved
limited success. It remains to be seen
whether the recapitulation by the National Comprehensive Cancer Network
of the Centers for Disease Control and Prevention recommendation to
screen all incident CRC specimens for
Lynch syndrome can increase diagnoses.
Undertesting related to Lynch syndrome
screening and overtesting involving molecular tests among surveyed
oncologists highlight the need for improved implementation, targeted
education, and evaluation of organizational and financial arrangements
to promote the appropriate use of genetic and molecular tests.
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