Download Administrative Office St. Joseph`s Hospital Site, L301

Administrative Office
St. Joseph's Hospital Site, L301-10
50 Charlton Avenue East
HAMILTON, Ontario, CANADA L8N 4A6
PHONE: (905) 521-6141
FAX: (905) 521-6142
http://www.fhs.mcmaster.ca/hrlmp/
Issue No. 54
QUARTERLY NEWSLETTER
December, 2000
MoHLTC-Initiated Genetic Program for Hereditary Breast, Ovarian,
and Colorectal Cancer Syndromes
NEW GENETICS PROGRAM
Many individuals are worried about their family history of cancer and want to
obtain accurate information in regard to risk assessment and management
options. Up until May 2000, the only way it was possible for families to obtain
genetic counseling and testing for hereditary breast/ovarian or colorectal
cancer in Ontario was to participate in research programs conducted by the
Ontario Cancer Genetics Network of Cancer Care Ontario. The strong interest
in participation in this research program emphasized the need for clinical
services. In response, the MOHLTC has released funding for a
comprehensive provincial program of genetic services for hereditary cancer
syndromes.
Initially, the program is to focus on two major conditions: hereditary
breast/ovarian cancer syndromes, and hereditary colorectal cancer
syndromes. Funding has been released to clinical genetic centres across the
province. Genetic counseling and testing services for the Central South region
are now available at our Genetics Clinic at the McMaster site with
appropriate referrals (see below).
AIMS OF THE PROGRAM
Our primary objective is to offer genetic counseling, risk assessment, and
genetic testing (if applicable) to patients who appear to have family histories
consistent with hereditary cancer syndromes. A secondary objective is to
support collaborative research programs for improving the diagnosis and
management of hereditary cancer. Services will be provided in a non-directive
manner; choices will be offered at each stage, and all patients can decide to
decline or continue further at any time throughout any counseling or testing.
SYNDROMES COVERED BY THE PROGRAM
Funding has been released to support clinical services for breast, ovarian, and
colorectal cancer specifically, but we also welcome referrals for evaluation of
other cancers that appear to have a familial or hereditary pattern. At this time,
our own lab offers genetic testing for mutations of two genes associated with
hereditary breast and ovarian cancers (BRCA1 and BRCA2). We expect that
we will provide some types of tests for hereditary colorectal cancer in the near
future, and we can arrange for testing by other labs for a variety of other
cancer syndromes.
CRITERIA FOR REFERRAL FOR COUNSELING
A provincial committee is currently developing criteria for referral of patients.
These criteria will be detailed and will address hereditary breast, ovarian, and
colorectal cancers specifically. Basically, we will be looking for combinations
of unusually early age at diagnosis, multiple members of the family affected
over at least 2 generations, multiple primary tumors in the same individuals,
and specific combinations of tumor types (e.g. colorectal - uterine, or breastovarian) when reviewing the family histories. Our genetic counselors will be
pleased to answer questions about the criteria when they are publicized.
PROGRAM DESIGN AND PROVISION OF SERVICES
Referrals for genetic testing can only be made through the funded genetic
centres. Therefore, patients wishing to be assessed for their eligibility for
genetic testing need to be seen by our staff before any applicable tests can be
offered. Although we accept self-referrals, we encourage all patients to be
referred by their physician.
Once referred, patients will usually follow a standardized protocol for genetic
consults. In the first visit, we conduct a detailed review of the family history,
come to a preliminary assessment of the possibility of a hereditary cancer
syndrome, and request consents for release of information so that diagnoses
of various members of the family can be confirmed by review of pathology
reports. In the second visit, the patient is given more specific information in
regard to whether a syndrome is possible, our estimate of their lifetime risk for
a diagnosis of cancer, and an offer of testing if applicable. At that time, the
options and possible outcomes of testing are reviewed in detail. If the patient
chooses to have testing, blood specimens are then collected. The third visit
will be used to provide the patient with the results of testing, and for patients at
higher levels of risk, to provide information about the various prevention and
surveillance options that would be applicable. We will offer referral to a new
high risk clinic at the Hamilton Regional Cancer Centre for any patient
documented to be at medium or high risk (in excess of 25% lifetime risk for
breast cancer), so that management options for surveillance and prevention
can be discussed. Patients may receive an estimate of increased risk
from pedigree analysis alone. While genetic testing may refine that risk,
patients estimated to be at high risk are still eligible for clinical
management programs even if they decline to have testing.
LABORATORY TESTS
Most of the testing for breast/ovarian cancer syndromes will be performed by
the Cancer Genetics service of the Hamilton Regional Laboratory Medicine
Program, but some specimens may require additional testing at other centres
to clarify inconclusive results or to rule out uncommon types of mutations.
Technical staff have been hired and the laboratory is coming up to speed as
quickly as possible. Unless a familial mutation has already been described for
the family, each patient will have a complete screening test for both the
BRCA1 and BRCA2 genes. The test protocol involves a combination of a
protein truncation test (PTT) and automated sequencing. The PTT is used
because it permits rapid screening of most of the two genes for truncating
mutations; however, positive PTT results must be investigated further by
automated sequencing of DNA. Sequencing is also used to cover three
regions of the genes where PTT results are hard to interpret. The overall
sensitivity of the test protocol is about 85%, i.e. the methods used are thought
to detect at least 85% of mutations. Reporting times for a complete screening
test are expected to be 6 – 8 weeks if no mutation is found. Positive results
will take about 2 weeks longer, because any positive result must be confirmed
by an independent second test. The laboratory protocols will be modified
regularly as new information about the genes and new technologies become
available.
CONFIDENTIALITY ISSUES
It is our standard policy to provide documentation of any counseling and test
results to both the patient and the referring physician for future reference.
However, some patients are worried about insurance issues or family
concerns, or have other reasons why they would like their information to
remain confidential. We respect those wishes as much as possible, but
patients may wish to consider reviewing their insurance concerns prior to
referral.
For more information
To find out more about genetic counseling and testing for hereditary
cancer genetic syndromes, please contact either Kathleen Smyth,
MSc, or Laura Hunnisett, MSc at Genetic Services, HRLMP, telephone
(905) 521-5085, or fax (905) 521-2651. Referrals are accepted by
telephone or by fax.
Ron Carter, PhD, FCCMG
(Head of Cancer Genetics, Hamilton Regional Laboratory Medicine Program)
Associate Professor of Pathology & Molecular Medicine