Physician Guide

• Patient has two or more relatives on the same side of the family with the same or related cancers, especially those of the breast, ovary, or colon.
• Patient who has had, or whose relatives have had:
  • Early-onset (before age of 45) cancer — such as breast, ovarian, or colon cancer.
  • Primary cancers in bilateral organs.
  • Two different primary cancers — such as primary breast and ovarian cancers or primary colon and uterine cancers.
  • A cancer that has a higher likelihood of being related to a genetic cause, such as ovarian, pancreatic, medullary thyroid cancer, paraganglioma, retinoblastoma or metastatic prostate cancer.
  • A known cancer-predisposing pathogenic variant in the family.

• Learn the risk of cancer for themselves or their children.
• Consider genetic testing for cancer predisposition genes.
• Obtain information about cancer screening tests — such as mammography or colonoscopy — and how often they should be performed.
• Seek advice on lifestyle modification.
• Want to determine if there's an association between already diagnosed cancer and an inherited predisposition.

Genetic testing is recommended based on personal and/or family history.

The cost of genetic testing is separate from the cost of consultation. Patients can often be tested through the UPMC Clinical Genomics Laboratory.

The Cancer Genetics Program's team:

• Identifies key family members for genetic testing.
• Facilitates communication among relatives with strict attention to confidentiality.

If a specific pathogenic variant in a cancer predisposition gene is identified in an individual, testing for the specific variant is recommended to all at-risk relatives.

Most importantly, those who test negative for the familial pathogenetic variant typically will have cancer risks similar to the general population. This diminishes worry and eliminates the need for high-risk surveillance and risk-reducing interventions.

While genetic testing is an important part of the cancer risk assessment process, only about 10 percent of cancer diagnoses are due to hereditary causes.

Some patients have family histories that:

• Do not suggest an inherited susceptibility to cancer.
• Have a pattern of inheritance that doesn't match with a known cancer-associated gene.

Before testing, patients must understand the risks, benefits, and limitations of genetic testing for cancer predisposition.

A cancer genetics consultation occurs typically in one visit. The individual or referring physician usually initiates the visit for genetic counseling at the Cancer Genetics Program with a phone call. A clinic coordinator will obtain the basic history and determine the individual's primary concern. The coordinator will then schedule an appointment.

Before the appointment, a genetic counselor or genetic clinic staff:

• Obtains a family history (usually of three or four generations).
• Decides which medical records are important for documentation of reported cancers.
• Begins to work on a cancer pedigree (family tree).

Typically, the purpose of genetic consultations is to:

• Determine a person's concerns and intentions.
• Record personal medical and detailed family history of cancer and premalignant conditions to assess familial risk.
• Educate the patient about genetics and cancer.
• Calculate cancer risk estimates (e.g., for breast cancer), based up on age, family history among other factors
• Discuss whether family history best fits a sporadic, familial, or hereditary (genetic) pattern.
• Discuss feasibility of genetic testing, pretest probability for specific syndromes, risks and benefits of testing, and logistics of testing (cost, genetic discrimination, and confidentiality).
• Review screening and prevention steps for specific cancers.
• Address emotional issues.
• Identify relatives for possible participation in genetic counseling and testing and for whom the information may be of particular importance.
• Summarize, outline future steps, and leave open options for future contact, given evolving nature of cancer genetics field.
• Mail letter(s) summarizing consultation to referring physician and provide patients with written information of their risk assessment.

For those for whom genetic testing is recommended and wish to proceed, blood draw or saliva collection is arranged during the visit after written informed consent is obtained. While some people make the choice to undergo genetic testing at their visit, others delay testing to allow them time to consider the options more completely.

One of the central goals of genetic counseling is to develop surveillance and risk-reducing strategies based on the person's risk of cancer after completion of risk assessment.

We also review and coordinate with referring physicians the indications for referral to surgeons, plastic surgeons, and other specialists.

Genetic testing results are generally available two to four weeks after a sample is submitted to the lab. When the result is available, the genetic provider calls the patient to disclose the results and discuss implications.

During the disclosure phone call, the genetic provider will:

• Explain the test results.
• Address any medical, emotional, or family issues.
• Further discuss risk-reducing measures and screening recommendations, based on the patient's genetic test results.

• Physicians can preview cases with Cancer Genetics Program specialists, or they can refer patients directly to the program for preliminary information. A patient brochure is available on request.
• The Cancer Genetics Program does not charge until our specialists actually see the patient or family members.
• Patients may schedule genetic consultations at multiple sites in Pittsburgh, at Magee-Womens Hospital, the Hillman Cancer Center, or UPMC Lemieux Sports Complex UPMC Magee-Womens Specialty Services.
• Telemedicine services are also available in Altoona, Erie, Farrell, Johnstown, Northwest, and Williamsport.

Call the Cancer Genetics Program at 1-800-454-8156 to:

• Get current locations for genetic consults.
• Refer patients for consults.
• Obtain more information about cancer genetics testing.
• Request educational sessions for health care professionals.