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Stanford Cancer Institute (SCI)
Stanford University

Comprehensive Cancer Center

SCI Administration:

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Stanford, CA

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Genetic Testing


The Oncology Day Care Center at Stanford University Medical Center operates a Cancer Genetics Clinic offering familial cancer risk assessment and genetic testing. Patients with concerns about an inherited risk for breast, ovarian, colon, or other cancers are encouraged to contact us. The multidisciplinary consultation service provides genetic counseling, risk assessment, and testing to cancer patients, their families, and high-risk individuals. The Cancer Risk Assessment team includes individuals trained in oncology, genetics, and genetic counseling.


Stanford, California (San Francisco/San Jose Area)

Director, Cancer Risk Assessment Program

James Ford, MD

Breast and Ovarian Surveillance Service

Allison Kurian, MD

Colon/GI Cancer Risk Assessment Clinic

James Ford, MD

Familial Cancer Service

Eugene Hoyme, MD / James Ford, MD

Genetic Counseling Appointments

Nicolette Chun, MS

Kerry Kingham, MS

The Stanford Cancer Genetics Clinic 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

Provider Education

A high-risk genetics conference focusing on protocols, guidelines, and recommendations for patients with possible genetic predisposition for colorectal cancer is held bimonthly.

Significant educational efforts by the staff of the Stanford Cancer Genetics Clinic are directed toward community physicians. Lectures are offered at community hospitals and within the Stanford Medical Center to familiarize physicians with cancer genetic risk indications and issues. Lectures are also provided to medical students, residents, and fellows in related fields, emphasizing the importance of cancer genetics in their practice.

Patient Education

Original pamphlets describing indications for cancer genetics referral and the evaluation procedure have been developed and are available for patient education. Copies of these booklets can be obtained at our Web site or by calling 650.724.4363 (Stanford Cancer Genetics-GENE). Additional written educational materials about the genetics of cancer are available at the Stanford Cancer Genetics website,, and the Stanford Medical Center website,


Patients are referred from both physicians within the Stanford University Medical Center system as well as from community physicians in many disciplines, including oncology, surgery, gynecology, internal medicine, and gastroenterology. Physicians or patients can access Cancer Genetic Clinic Services by calling the clinic's office number above. A genetic counselor is available to assist with medical intake and appointment planning.

Identifying Eligible Subjects

Individuals that may benefit from a referral include those with:

• Multiple primary cancers

• Cancer with an unusually young age of onset

• A clustering of rare or unusual cancers in the family

• Cancers occurring in association with a known genetic condition such as: Neurofibromatosis, Fanconi Anemia, and Tuberous Sclerosis

• Any known cancer susceptibility syndrome, such as:

o Hereditary Nonpolyposis Colorectal Cancer

o Familial Adenomatous Polyposis

o Hereditary Breast-Ovarian Cancer Syndrome

o Li-Fraumeni Syndrome

o von Hippel-Lindau Syndrome

o Multiple Endocrine Neoplasia

• One or more first-degree relatives affected with cancer or any of the genetic conditions listed above.

Pre-test Counseling and Risk Assessment

The patient's personal and family medical history is obtained by phone at the time of scheduling and may be updated at the scheduled appointment to achieve the most accurate risk assessment. Documentation of relevant tumors and/or genetic test results may also be necessary. A consultation with the Cancer Risk Assessment Service includes:

• A detailed analysis and evaluation of the family medical history

• A discussion of the genetics of cancer development and specific hereditary cancer syndromes

• An assessment of the patient's cancer risk based on their family and/or personal history of cancer

• Recommendations for screening, prevention, and detection. A medical evaluation and physical examination is optional. If a hereditary cancer syndrome is suspected in a family, counselors will discuss the availability of genetic testing and the risks and benefits of such testing. Clients will also receive instructions for breast self-exam if indicated.

A letter summarizing the details of our consultation and our recommendations is sent to the patients for their records. A copy of our consultation note will also be sent to the patient's physician only at the patient's request.

Informed Consent Procedures

Patients who elect to proceed with genetic testing for cancer susceptibility will be required to sign a consent form either designed specifically by the laboratory performing the testing or a Stanford Medical Center approved consent form.


Confidentiality Standards

Documentation of the patient's consultation, as well as the patient's family history, is submitted to the hospital's main medical record under high security status. Written consent from the patient is required to access this record and is available only through the Cancer Genetics Clinic office or Medical Records supervisor.

If genetic testing is elected, the results of testing will also be documented in the main records under high security status. Reports and test results are not accessible through the routine hospital computer system.

Genetic testing results and documentation of a consultation will be disclosed to a third party only with the written consent of the patient.

The National Cancer Institute (NCI) has granted a Certificate of Confidentiality, which protects patient information entered in our research database from any level of court ordered disclosure.


For those patients electing genetic testing for cancer susceptibilities, most samples are sent for testing to a licensed commercial laboratory. If a patient participates in a research protocol, the qualifications and procedures employed by the testing lab will be discussed prior to testing.

Available Testing at or Through the Stanford Cancer Genetics Clinic

Cancer/Syndrome Gene

Breast & Ovarian Cancer BRCA1 & BRCA2, p53

Familial Adenomatous Polyposis APC

Hereditary Nonpolyposis Colorectal Cancer MLH1 & MSH2

MYH Polyposis MYH

Gastric Cancer E-cadherin

Li-Fraumeni Syndrome p53

Familial Melanoma p16

Multiple Endocrine Neoplasias RET

Neurofibromatosis Type 1 NF1

Retinoblastoma RB1

von Hippel-Lindau VHL

Laboratory Quality Assurance

CAP/CLIA accreditation is current at all reference labs providing clinical tests for the Stanford Cancer Genetics Clinic.

Test Result Interpretation

The test result is interpreted by the physician and genetic counselor involved with the patient's consultation. The result is interpreted based on the findings of the laboratory, published information about the mutation and condition, and the patient's personal and family history.

Post-Test Counseling and Follow-Up

Post-test Counseling

The results of genetic testing are shared with the patient in person during a follow-up disclosure session. Information about the implications of the results and recommended screening and follow-up is discussed.

Cancer Screening

Recommendations for early detection and prevention of cancer are provided. Recommendations are based on a combination of evidence and empiric data, expert opinion, consensus statements, and take into account the patient's personal and family history. Specific screening protocols have been devised for certain cancer susceptibility syndromes.

Medical and Surgical Management

Patients may be referred to the gynecology, breast surgery, radiology, gastroenterology, and general surgery clinics at Stanford where they are offered state-of-the-art treatment options, including the opportunity to enroll in a clinical trial, if eligible. Recommendations can also be made for medical and surgical management outside the Stanford system.

Psychological and Supportive Services

Professional and peer support referral is often facilitated through the Cancer Genetics Clinic.

Other Components of Genetic Services


Identifying New Genes

Studies are underway to identify genetic factors associated with cancer development among high-risk cancer families enrolled in our clinics. Clinic patients may voluntarily participate in the tissue and DNA banking program that will be used to identify and confirm the existence of new cancer genes and genes that modify cancer risk.

Implementing Chemoprevention Trials

Chemoprevention trials are underway for breast and colon cancer syndromes.

Discovering Clinical Treatments for Genetic Disorders

MRI and ductal lavage screening procedures are available for women at high risk for breast cancer. The sensitivity and specificity of these screening procedures are being monitored. The biological characteristics of premalignant changes identified by these methods are being studied using advanced genomic and proteomic techniques of gene expression.

MSI (microsatellite instability) is a characteristic of tumors associated with the most common form of inherited colon cancer, HNPCC. We are studying HNPCC tumors for any correlation between MSI status, expression of DNA repair gene, and patients' response to various chemotherapy trials in an effort to define the most effective treatments for HNPCC related cancer.

We are collaborating with investigators in Vancouver, B.C. and the International Gastric Cancer Linkage Consortium to explore the role of E-cadherin and DNA repair genes in familial gastric cancer.

Tracking Long-Term Results of Prophylactic Surgeries, Medical Surveillance Choices, and Preventative Interventions

The clinic maintains an off-net, secured, encrypted database to track both genetic and environmental cancer risk factors and the efficacy of surveillance and treatment options for patients who voluntarily enroll in this project.

Participating in Familial Registries or National Registries

Participation in numerous familial cancer registries is available through our clinic.

Educational Outreach

Education and Training

The Stanford Program for Applied Cancer Genetics has a substantial commitment to education and training of primary care physicians. One aspect of this effort involves an education and outreach project to primary care physicians in affiliated health centers that provide services to a substantial number of patients from traditionally under-served groups.

Ultimately, the Stanford Program for Applied Cancer Genetics envisions a variety of educational interventions, including print media, Web-based education, and presentations by program personnel, both at community hospitals and within the Stanford Medical Center.

Quality Assurance

Our genetic counselors are certified through either the American Board of Genetic Counselors or the American Board of Medical Genetics.

Programmatic counseling protocols are established and are intermittently reviewed.

Clinic cases are reviewed at weekly conferences to ensure consensus among experts.