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Fox Chase Cancer Center
Philadelphia, Pennsylvania
1.888.FOX CHASE (1.888.369.2427)
www.foxchase.org

Genetic Counseling and Testing Service

Introduction

Fox Chase Cancer Center's Risk Assessment Program is part of the Center’s Department of Clinical Genetics, which builds on the success of Fox Chase's Margaret Dyson Family Risk Assessment Program. Established in 1991 by Mary Daly, MD, PhD, FACP, for those at high risk of breast and ovarian cancers, the Dyson program was one of the first programs in the nation to offer screening, education, and counseling to healthy people at increased genetic risk for disease. Since then, Fox Chase has expanded risk assessment services to those at high risk for prostate and gastrointestinal cancers as well as melanoma. Services of Fox Chase's Risk Assessment Program include education, a personal review of one's risk for cancer, screening and screening recommendations, and counseling about genetic testing, if appropriate. The program also serves as a research base for ongoing studies of the biological, genetic, and environmental factors that influence cancer risk.

Location

Philadelphia, Pennsylvania

Schedule Appointments: 877-627-9684

Director, Breast and Ovarian Cancer Risk

Paula D. Ryan, MD, PhD

Director, Gastrointestinal Risk

Michael J. Hall, MD

Director, Prostate Cancer Risk

Veda N. Giri, MD

Fox Chase Cancer Center provides a full range of genetic counseling, testing, screening, and research. The following sets out the components of the comprehensive genetic testing program.


Intake Process

Education

Through the Community and Physician Awareness Program, Fox Chase makes primary care practitioners and members of the community aware of the genetic counseling and testing services and clinical trials available at Fox Chase-affiliated cancer programs in their communities.

Participants for the Risk Assessment Program are identified through their physicians, relatives, or are self-referred. All participants receive comprehensive education about their medical and personal risk factors for cancer, the role genetic factors play in cancer risk, cancer patterns in the family and the benefits and limitations of genetic testing, where appropriate. Participants also receive information about different screening options and other risk reduction measures based on their individualized risk.

Pedigree Review Conference

The Risk Assessment Program holds pedigree review conferences to assign a cancer pattern and genetic risk status following a counseling session. The pedigree review team consists of a multidisciplinary group of health-care professionals. This includes medical oncologists, genetic counselors, nurses, health educators, and research coordinators. This system helps determine eligibility for genetic testing and/or other research opportunities based on the participant's family history via pedigree expansion and evaluation.

Eligibility for participation in genetic testing and related research projects is determined by careful analysis of the family pedigree and other personal risk factors.

Pre-Test Counseling

All participants proceeding with genetic testing receive counseling regarding their genetic risk of cancer; the appropriateness of genetic testing; and the risks, benefits, and limitations of testing. Participants are also counseled on their eligibility for research or commercial genetic testing. Individualized cancer risk counseling is made available to each participant regardless of his or her eligibility or interest in genetic testing as part of a research protocol.

Informed Consent Procedures

Fox Chase uses a multi-staged process to obtain informed consent. Consent forms relate to specific research studies and cover any of the following: the collection of baseline data, family history data, or research-specific surveys (such as psychological surveys) and entering family history and other medical data into a research database. Consent forms may be sent by mail or obtained at the point of contact with participants.

At individualized counseling sessions, the goals and procedures of cancer risk counseling and/or research are fully discussed with a health professional trained in cancer risk assessment. Primary and secondary prevention is tailored to the individual level of risk. For individuals who proceed to genetic testing, the benefits, risks, and limitations of obtaining genetic information are discussed. Consent is obtained prior to having their blood drawn. A pre-test consent form is also obtained, allowing the counselor to disclose the patient's test results to a family member or friend in the event that the patient is not able to receive them. The blood sample can either be sent to a commercial laboratory or to the genetic testing facility at Fox Chase Cancer Center, depending on the needs of the patient. If the participant is tested at Fox Chase, a second blood sample accompanied by a separate consent form is required for quality assurance.

During the disclosure session, the genetic test results, the implications of the results, and medical management recommendations are discussed with a genetic counselor and either a nurse practitioner or a physician. Another consent form allowing the Risk Assessment Program to enter the patient's test results into its database is also offered at that time.

Participants eligible to take part in one of Fox Chase's cancer family registries or the Biosample Repository are given detailed information about the content of the data to be collected, potential uses of the data, safeguards to prevent unauthorized disclosure, and the kinds of information they will receive in feedback.

Testing

Confidentiality Standards

To preserve the privacy of participants, a series of security procedures have been implemented for stored data, DNA samples, and genetic test results. The database structure and data entry/retrieval interfaces are in compliance with HIPAA (Health Insurance Portability and Accountability Act of 1996) privacy regulations. Only numeric identifiers are stored with data, specimens, and study results. Hard-copy data collection instruments are in locked storage.

Participants receiving genetic results are counseled about security policies. Fox Chase will not share genetic test results with any party without consent. Patients are advised that Fox Chase cannot guarantee privacy once they have chosen to share results with another party.

All research protocols involving human subjects are reviewed and approved by the Fox Chase Cancer Center Institutional Review Board (IRB) prior to implementation.

Participants enrolling in any of the Risk Assessment Program's research or clinical services receive for their review and signature Fox Chase's Notice of Privacy Practice document and the HIPAA authorization form for each protocol in which they are enrolled.

Testing

The Risk Assessment Program at Fox Chase offers genetic counseling and testing for the following cancers or syndromes (cancers grouped together). Research testing may also be available. Fox Chase's genetic counselors inform participants if they are eligible.

Available Testing at or Through Fox Chase

Cancer/Syndrome Gene

Breast & Ovarian Cancer BRCA1 & BRCA2

Hereditary Non-Polyposis Colon Cancer MSH2, MLH1, MSH6

PMS2 Familial Adenomatous Polyposis Colon Cancer APC

MYH-Associated Polyposis MYH

Hereditary Prostate Cancer BRCA1 & BRCA2, others

Hereditary Melanoma & Basal Cell Nevus Syndrome CDK4, CDKN2A,
CMM & P16

Li-Fraumeni Syndrome P53, CHEK2

Cowden's Syndrome PTEN

Hereditary Breast and Colorectal Cancer CHEK2

Peutz-Jeghers Syndrome STK11

Multiple Endocrine Neoplasia, Type I MEN1

Multiple Endocrine Neoplasia, Type II,
Medullary Thyroid Carcinoma RET

von Hippel-Lindau VHL

Laboratory Quality Assurance

The Clinical Molecular Genetics Laboratory is a CAP/CLIA-certified molecular testing laboratory in the Department of Pathology at Fox Chase Cancer Center. Quality control and quality improvement programs are appropriate in design and practice for the rigors of federally overseen clinical sample testing and ensure the integrity, specificity, and sensitivity of testing data. Proper sample identification is maintained throughout pre-analytical, analytical, and post-analytical monitoring. Results are always correlated in the context of all the data available, i.e., personal and family history, any former testing data and current scientific literature review. Molecular genetic test reports are released/transmitted in a manner adequate to maintain patient confidentiality at a level appropriate for the particular test. Computerized records are backed-up daily by the institution.

Cancer Risk Counseling and Follow-Up

Cancer Risk Counseling

The Risk Assesment Program also provides a clinical component where participants receive individualized cancer risk assessment based on an individual's medical, environmental, and family history. Medical records and pathology reports may also be reviewed or requested.

For all those undergoing genetic testing, Fox Chase uses a multi-stage informed consent counseling process, which includes education, counseling, a pre-test session, and disclosure counseling session. During a cancer risk counseling session and a pre-test session, benefits, risks, and limitations related to genetic testing are reviewed by a genetic counselor. The counselor also helps to examine any anticipated psychosocial and emotional concerns that genetic testing may generate and addresses any impact genetic testing poses for a family.

If the participant opts to receive test results, a disclosure counseling session is scheduled. During this session, patients receive their genetic test results from a genetic counselor. A nurse practitioner or physician is also present to review medical management, screening recommendations and risk-reduction options. Any psychosocial and emotional impact of test results to patients and their families are addressed at this time. A plan may be developed to communicate results to family and medical professionals.

Risk Management

During the individual counseling session and/or follow-up clinic visits, screening, medical management, and risk-reduction issues are reviewed. Resources and referrals are provided as needed.

Cancer Screening

Individualized screening recommendations are offered based on personal, medical, and family history and clinical findings.

Medical and Surgical Management

Participants receive an explanation of findings and consideration of options for chemoprevention, screening, and surveillance, and risk-reducing surgery, if appropriate.

Psychological and Supportive Services

All participants are provided with information regarding support services. For example, the book Ovarian Cancer Risk-Reducing Surgery-A Decision-Making Resource has been written to help women in the complex decisions surrounding elective ovary removal and is provided as part of the counseling process.

Clinical Follow-Up

Participants have the option of receiving medical evaluation and follow-up for breast and/or ovarian cancer risk in the state-of-the-art Women's Cancer Center at Fox Chase Cancer Center. The clinical component includes a comprehensive cancer risk evaluation of personal and medical history along with a physical evaluation. Both the patient and her referring physician will receive information about medical management, screening recommendations, and eligibility for enrolling in current prevention trials. The medical evaluation is a service that is billed to the client's health insurance provider.

Some women with histologically identifiable breast biopsies, such as lobular carcinoma in situ (LCIS), atypical ductal hyperplasia (ADH), or atypical lobular hyperplasia (ALH), are at a higher relative risk of breast cancer. The risk may be further increased when there is a positive family history. The clinical component of the Risk Assessment Program provides patients the opportunity to meet clinicians with special training in breast diseases (consultant surgeon, breast physician). Preventive measures such as chemoprevention with tamoxifen, other drugs when their role in prevention has been established, or surgery are highlighted during these discussions.

Gastrointestinal tumor risk assessment brings together doctors, researchers, and other health-care professionals to educate patients and families about ways to reduce their cancer risk. One-on-one and/or family-based risk counseling is offered as well as genetic evaluation, and when appropriate, physical examination. Recommendations are tailored on how to reduce the risk of cancer. In addition, opportunities for research participation are offered.

Prostate cancer risk assessment provides comprehensive evaluation of prostate cancer risk based on personal medical history along with a physical examination and discussion of the prostate specific antigen (PSA) blood test.

Melanoma risk assessment provides cancer risk assessment, cancer prevention, and early detection of melanoma and complements Fox Chase's state-of-the-art services of staging and treatment. Staff is dedicated to helping prevent melanoma and other forms of skin cancer.

Research

The Risk Assessment Program at Fox Chase Cancer Center is involved in research that serves to identify mutations in genes associated with cancer, to identify and characterize populations at increased genetic risk of getting cancer, and to identify optimal counseling and management strategies. In addition, the program serves as a research base for related behavioral research and clinical trials.

Registries

Breast Cancer Risk Registry: Fox Chase’s research base includes some of the community hospitals within Fox Chase Cancer Center Partners.

Cooperative Family Registry for Breast Cancer Studies (CFRBCS): Fox Chase is one of six sites for this international registry.

Ovarian Cancer Consortium for Research and Surveillance (OCCRS): This is an ongoing collection of blood, tissue, and epidemiologic data from families with ovarian cancer, providing a rich resource for ongoing research into prevention, detection, and treatment of ovarian cancer.

The Benign Breast Registry to Assess Valid Endpoints (BeBrave) is collecting medical information and pathology samples from previous breast biopsies showing benign breast disease. The goals of this registry are to find new and better ways to predict which biopsy-proven benign findings need closer follow-up and to better distinguish who is at risk for getting breast cancer.

The Fox Chase Cancer Center Biosample Repository is dedicated to the collection and distribution of human subject biosamples and accompanying personal and family cancer history data. Patients and their family members at Fox Chase Cancer Center are introduced to the Biosample Repository and are invited to sign an informed consent. Willing participants are asked to contribute a blood sample and to complete family history, risk factor, and demographic questionnaires. Available biosamples are distributed by the repository for use in interdivisional advisory committee and IRB-approved research projects. In collaboration with the tumor bank facility, the Biosample Repository is able to match peripheral blood samples to tumor tissue. The repository has banked samples from more than 10,000 individuals. Specimens available include plasma, serum, red blood cells, viable leukocytes, and DNA.

The Gastrointestinal Tumor Risk Registry is collecting information from individuals at high risk of getting colorectal and other gastrointestinal cancers based on their personal and family medical history, as well as psychosocial indicators. Registry information and blood or tissue samples enable Fox Chase scientists to continue their work toward determining the causes of gastrointestinal cancer and prevention strategies.

The Prostate Cancer Risk Registry (PCRR) serves as a unique resource for further study of the interaction between environmental factors and genetic susceptibility patterns. It provides a mechanism for exploring the early, pre-malignant biologic markers of prostate cancer. It allows for the prospective assessment of quality of life in unaffected men, which has never been reported.

In addition, the PCRR facilitates the evaluation of the impact of prostate cancer risk counseling and decision models for prostate cancer screening in a community setting. The existence of a PCRR that represents a spectrum of racial and ethnic groups, specifically targets African American men, and is fully integrated into the mainstream of community health care is particularly relevant in light of the wealth of genetic information that has emerged from the intense efforts of the Human Genome Project. The PCRR collects blood specimens and questionnaire data from men at risk for prostate cancer and men who have been diagnosed and treated for prostate cancer.


Other Components of Genetic Services

Fox Chase has a database capable of generating multigenerational pedigrees. The data is easily updated to include births, deaths, and new cancers for previously listed family members. The software is also capable of the union of family histories provided by two or more distinct study subjects in the same family in order to generate an extended pedigree.