National Comprehensive Cancer Network

Chicago, Illinois

Cancer Genetics Program (CGP)
312.695.0320

Northwestern Ovarian Cancer Early Detection and Prevention Program (NOCEDPP)
312.926.6606

The genetics staff gives numerous educational talks each year to a wide range of audiences about the recent discoveries in cancer genetics and the process of genetic counseling and genetic testing. Presentations are given at various departmental meetings throughout Northwestern, grand rounds at several community hospitals, meetings of community-based cancer support groups and organizations, and local nursing conferences.

Specialists in the Lynn Sage Comprehensive Breast Center and other such clinics refer patients when indicated to the CGP and NOCEDPP. In addition, both academically based physicians at Northwestern and private practitioners in oncology, surgery, and obstetrics and gynecology on staff at Northwestern have been contacted either directly or indirectly. When possible, a genetic counselor attends the weekly multi-disciplinary breast, gynecologic, and colon cancer conferences to identify patients that may be appropriate for genetic counseling based on their clinical and family history. Patients are also accepted on self-referral or as referrals from community physicians.

The CGP and NOCEDPP routinely provide genetic counseling services to both individuals and their family members. These services are available on a weekly basis.

All individuals undergoing cancer risk assessment and genetic counseling through the Cancer Genetics Program are contacted by the genetic counselor by telephone prior to a formal appointment. The genetic counselor elicits the client's questions and concerns and provides an overview of the genetic counseling and testing process, including number of appointments, cost, possibility of insurance coverage, and confidentiality of information. Clients are encouraged to gather medical records documenting the occurrences of cancer in their family for accurate risk assessment, or at least confer with relatives to obtain details about cancer diagnoses. Information about reproductive history, environmental exposures, and medical history relevant to cancer risk is also gathered over the telephone. A preliminary pedigree is constructed based on telephone intake information and preliminary cancer risk assessment is performed.

The initial genetic counseling appointment involves reviewing the family history and the client's personal history, discussing the client's cancer risk assessment, providing general education about the genetic basis of cancer and particular cancer susceptibility genes as appropriate for the family history, discussing options and recommendations for cancer surveillance and prevention, and exploring the psychosocial implications of a personal or family history of cancer. The staff oncologist performs a physical examination. For clients with family histories that are suggestive of inherited susceptibility, pre-test counseling is provided focusing on the benefits, risks, and limitations of genetic testing in their particular situation.

A genetics consultation as described above is also a standard component of the NOCEDPP. The NOCEDPP is a research protocol and screening program available to women at increased risk for ovarian cancer (i.e. family history of ovarian cancer; a personal history of breast, colon, or gynecologic cancer; strong family history of breast, ovarian, colon, uterine, or pancreatic cancer; personal or family history of hereditary syndrome that predisposes to ovarian cancer). NOCEDPP research participants undergo semiannual ovarian cancer screening with transvaginal ultrasound, CA-125, and pelvic exam. A genetic risk assessment is routinely performed at their initial visit. The NOCEDPP also provides genetic risk assessment for clients who desire a genetic consult without research participation or ovarian screening.

Components of pre-test counseling include the following items, as suggested by the American Society of Clinical Oncology:

· implications of a positive or negative test result

· possibility that the test will be uninformative

· options and limitations of medical surveillance and prevention following testing

· options for risk assessment without genetic testing

· risk to family members

· accuracy of test

· fees involved in counseling and testing

· discussion of psychosocial consequences of test results

· risks of insurance and/or employer discrimination

· confidentiality of test results

Written informed consent is obtained from each client who elects genetic testing. For clients having genetic testing on a clinical basis, the consent form of the commercial CLIA-approved laboratory providing the specific test is used. For patients participating in research studies, consent forms are reviewed and approved by the Northwestern University IRB. Information included in the consent forms is covered in detail during pre-test genetic counseling. After reading the consent form, patients are specifically asked by the genetic counselor if they have any remaining questions or concerns.

Medical and family history information obtained through both the CGP and the NOCEDPP is part of the patient’s electronic medical record. Currently , these electronic encounters are restricted and accessible only by providers affiliated with either the CGP or the NOCEDPP, respectively. CGP and NOCEDPP records may be released to other providers with permission from the client.

For genetic testing for breast, ovarian, colon, and other hereditary forms of cancer, established laboratories with recognized expertise in the specific test are utilized.

These services are used on an individual basis, focused on the specific gene test and the specific expertise of the testing facility.

Below is an abbreviated list of the tests that are available; we offer genetic counseling and testing for other conditions as indicated.

Cancer/Syndrome Gene

Breast & Ovarian Cancer BRCA1 & BRCA2

Familial Adenomatous Polyposis Colon Cancer APC

Hereditary non-Polyposis Colon Cancer MSH2, MLH1, MSH6

Li-Fraumeni Syndrome TP53

Melanoma p16 (CDKN2A)

Multiple Endocrine Neoplasia 1 MEN1

Multiple Endocrine Neoplasia 2 RET

Retinoblastoma RB1

von Hippel-Lindau VHL

Only CAP- and CLIA-approved laboratories are used for clinical genetic testing.

All genetic test results are interpreted by the genetic counselor in light of the client's personal and family histories. Published literature, in combination with the client's own medical history, is used in assessing cancer risks for each client in light of positive or negative test results. Internationally available resources, such as mutation databases for specific cancer susceptibility genes, are utilized in interpreting some results.

Interpretation and communication of genetic evaluation and testing is preferably conducted in person by the staff oncologist and genetic counselor. Sessions are usually one half hour, although on some occasions several visits are required. Detailed written summaries of the genetic counseling session are sent to each client. To ensure patient confidentiality, each client chooses if he or she wants the written summary sent to his or her physician(s). Patients who are not appropriate for or who do not elect genetic testing are encouraged to periodically contact the cancer genetics staff for updates on information that may apply to their family. For patients electing genetic testing, a written summary of the counseling sessions, test results, and meaning of the results for the client and his/her family is provided.

Cancer screening recommendations are provided based on the personal and family histories and results of genetic testing. Referrals are coordinated when necessary.

Clients are informed that many of the screening recommendations for carriers of mutations in cancer susceptibility genes are currently based on expert opinion and may change as new information is gained through research. Clients are informed of the availability of clinical research studies on screening that may be appropriate for their situation.

Options for cancer prevention such as prophylactic surgeries or use of chemopreventive agents are discussed with clients who have tested positive for a cancer susceptibility mutation or whose risk assessment without genetic testing suggests a significantly increased cancer risk. Clients considering prophylactic surgeries or chemoprevention are referred for a formal consultation with a surgical oncologist or medical oncologist, respectively, to discuss the benefits and risks of these options in more detail.

Individuals who appear to require additional supportive counseling before or after receiving genetic test results are provided with a referral to a clinical psychologist, psycho-oncologist, psychiatrist, or social worker, when necessary. Information about support communities is routinely provided for individuals with a family history consistent with hereditary cancer.

Northwestern is participating in ECOG's "Cancer in Siblings" research protocol, which aims to identify genetic characteristics shared by siblings who have been diagnosed with the same cancer. Sibling pairs who have been diagnosed with breast, colon, lung, or prostate cancer are eligible for participation.

Families identified through the CGP and NOCEDPP who have unique constellations of cancer that are of interest to research groups at other institutions are made aware of opportunities for study participation. Families can often participate in off-site research studies by talking with the study coordinator over the telephone, completing a written packet of questionnaires and providing informed consent, and then providing a blood sample.

Please note: Preliminary research studies such as these aimed at identifying new genes may not provide results back to study participants. Research test results may not impact clinical management for participants.

Northwestern's graduate students in genetic counseling are responsible for conducting an original research project to fulfill requirements for the master of science degree. Typically, two to three projects each year focus on cancer genetic counseling issues.

The focus of the Northwestern Ovarian Cancer Early Detection and Prevention Program is to identify clinical and laboratory parameters useful in identifying ovarian cancer early in its initiation. Detailed family histories have been obtained and will be analyzed as part of the overall goal of early identification of ovarian cancer.

Each patient’s history and genetic counseling session, risk assessment and patient’s choice of testing is reviewed with either a medical oncologist or geneticist. When necessary, difficult cases are reviewed (anonymously) with cancer genetics colleagues through the National Society of Genetic Counselor Cancer Special Interest Group e-mail discussion group.

Northwestern University offers a graduate program in Genetic Counseling. This program accepts ten students per year and provides extensive clinical experience. The program is accredited by the American Board of Genetic Counseling.

Northwestern also offers basic science doctoral programs at its Chicago campus, where students are trained in the labs of Cancer Center researchers. Post-doctoral opportunities are also available in the cancer center for basic science research related to cancer genetics.

The Cancer Genetics Program is initiating a M3 Clerkship for students of the Feinberg School of Medicine. In addition, residents and fellows of Northwestern Memorial Hospital rotate through our clinics to build upon their knowledge of the cancer risk assessment process.