Cancer Genetics

Clinical Genetic Services

The Cancer Genetics Program at St. Joseph Hospital helps patients and families with a history of cancer to better understand and manage their cancer risks. Genetics is a dynamic and quickly evolving field that supports individualized wellness and prevention. At the leading edge of precision medicine, our genetic counselors provide personalized management recommendations that shift the focus from fear to empowerment. Appointments include:

  • Comprehensive genetic counseling and genetic risk assessment
  • Thorough review of personal and family history
  • An explanation of inherited syndromes and familial cancer risk
  • Selection and interpretation of clinically valid and appropriate genetic testing
  • Personalized risk management and cancer prevention plan
  • Discussion of updated national guidelines and management options
  • Additional risk estimates and recommendations for close family members
  • Detailed consultation report

Genetic Risk Assessment and Genetic Testing

Individuals concerned about their personal and/or family history of cancer may benefit from genetic counseling, consideration of genetic testing, and receiving a genetic risk assessment. Our clinical genetic services may be particularly beneficial for individuals who have a personal and/or family history that include:

  • Cancer (ex: breast, colon or uterine) occurring at an age that is younger than expected (typically before age 50).

  • Two or more family members with the same type or related types of cancer (ex: breast and ovarian, uterine and colon, pancreas and melanoma).

  • A rare or unusual type of cancer (ex: medullary thyroid, pheochromocytoma, childhood sarcoma)

  • Ovarian cancer or pancreas cancer occurring at any age.

  • More than one type of cancer occurring in the same person (ex: separate primary cancers, not a single metastatic cancer spreading to other parts of the body).

  • Metastatic or Gleason score 7+ prostate cancer

  • A current lifetime history of 10+ cumulative colon polyps

  • Anyone of Ashkenazi Jewish ancestry with a personal or family history of breast cancer at any age.

To schedule an appointment: 714-734-6229 (phone) and 714-734-6218 (fax)

A physician referral may be faxed to 714-734-6218. The Cancer Genetics Program may also be reached directly by phone at 714-734-6229 to schedule an appointment or for physician referral assistance. Prior to the appointment, a brief telephone interview is completed to review personal and family history and to answer questions about our genetic counseling services. All new patients are asked to complete an in-depth personal and family history questionnaire in preparation for their consultation.

Risk Assessment

An initial cancer genetic consultation typically takes an hour. During the consultation, the genetic counselor reviews the individual's personal medical history and construct a three to four generation family tree. The genetic counselor will use this information to create a tailored risk assessment and will have a comprehensive discussion with regarding:

  • The likelihood that the patient or relatives may have inherited a genetic cancer syndrome

  • The risk of developing cancer based on personal and family history

  • The risk of developing a second primary cancer

  • Relatives’ risks of developing cancer

  • The options of genetic testing and identification of the most informative individual/s to test within the family

If patient elects to proceed with genetic testing, a blood or salvia sample will be taken during the initial consultation.

Genetic Testing

If a patient elects to pursue genetic testing during their initial genetic counseling consultation, the genetic counselor and patient will discuss the number and types of genes that will be tested. The genetic test involves obtaining a DNA sample either by a small blood or saliva sample, which is sent to a genetic laboratory. The genetic laboratory examines a specified set of genes to look for any "errors" or mutations that cause a gene to fail to work properly. These types of gene mutations indicate that a patient is at increased risk of developing certain types of cancers. In addition, his or her family members may carry the same gene mutation and thus also have increased risks for certain types of cancers.

Test results from a genetic test are typically received within 2-3 weeks. Once results are available, the genetic counselor will call the patient to inform him/her of the results and to offer a second consultation (approximately ½ hour). During the results phone call or second visit, the genetic test results and interpretation of the results are reviewed and individualized screening and prevention recommendations are provided for the patient and family members.

Reports and Confidentiality

Genetic counseling consultation reports and genetic test results are provided to the patient, referring physician, and any additional patient-requested physicians or relatives. All personal and family information and genetic test results are confidential and will not be released without the patient's prior written or verbal consent.

Some patients have expressed concerns that insurance companies may use genetic information to discriminate against them. In fact, there are federal and state laws that provide protection against genetic discrimination and there are no documented cases of genetic discrimination following genetic counseling or testing for cancer risk. The Genetic Information Nondiscrimination Act (GINA) of 2008 is a federal law that protects people from health insurance eligibility and cost discrimination and also protects people from employment discrimination. Our Genetic Counselors can provide more information about this during the consultation. To learn more about GINA, please visit the Coalition for Genetic Fairness:

Research Opportunities

Our genetic counselors explore meaningful research options, both locally and nationally, to identify genetic research opportunities that may benefit our patients and their families. Research participation is completely voluntary and is typically offered when specific personal and/or family history meets study criteria and therefore provides the most meaningful participation.