© The Canadian Journal of Urology™; 23(2); April 2016
what was tested. The disclosure session is primarily
focused on cancer screening recommendations for the
prostate cancer patient based upon family history. For
example, if there is a strong family history of colon
cancer, the patient is recommended to consult with a
gastroenterologist formore frequent colonoscopies. The
disclosure session also encompasses cancer screening for
blood relatives. Unaffected first-degree male relatives
(particularly sons and brothers) are recommended to
have adiscussionof PSA-basedprostate cancer screening
starting at 40 based upon family history of prostate
cancer.
17
Additional cancer screening recommendations
for relatives (such as breast cancer or colon cancer
screening) are basedupon reported family cancer history,
suchas age tobeginscreeningand frequencyof screening,
as per existing guidelines.
5,18
Variant of uncertain significance (VUS)
Genetic test reports can also include variants of uncertain
significance in the genes tested. Current consensus in
the field is that management recommendations do not
change based upon identifying a VUS. The genetic
testing laboratory with experience in clinical testing will
follow these variants over time to gather more evidence
to determine if a reclassification is possible. Over time,
many of these VUSs are reclassified to pathogenic/
likely pathogenic (disease-associated) or benign. The
laboratories inform ordering doctors when a variant is
reclassified so that patients canbenotifiedof thepotential
need to return for additional disclosure discussions.
Therefore, it is essential toknowthevariant reclassification
policy of a commercial genetic testing laboratory, as well
as followuppolicywithorderingphysicians andpatients.
Conclusion
Though multiple genes are identified to contribute
to prostate cancer inheritance, guidelines are needed
regarding how best to incorporate genetic testing into
clinical practice. Our approach of offering genetic
counseling and focused clinical genetic testing opens
the door to addressing inherited cancer risk concerns
for prostate cancer patients and their families. Clinical
genetic testing studies, such as at our institution,
are beginning to identify a broader range of genetic
contribution to prostate cancer risk, which is expected
to inform interpretation of inherited predisposition and
cancer riskmanagement. All of these efforts point to the
need to develop the field of genetic testing for inherited
prostate cancer in order to providemore comprehensive
and informative genetic testing for prostate cancer
patients and their families to personalize cancer risk
reduction, screening, and treatment approaches.
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