Physician Guide

Genetics Testing for Cancer Risk Physician Guide

Do you have a patient who's concerned about a family history of cancer?

Use this guide to find out who might be a good candidate for a cancer risk assessment and genetic testing at UPMC CancerCenter.

  • Patient has first-degree relatives (parents, sisters, brothers, or children) with cancer.
  • 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.
  • Early-onset (before age of 50) cancer in patient or relative — such as breast, ovarian, or colon cancer.
  • Primary cancers in bilateral organs in patient or relative.
  • Two different primary cancers in patient or relative — such as primary breast and ovarian cancers or primary colon and uterine cancers.
  • Rare cancer type in patient or relative — such as male breast cancer, medullary thyroid cancer, paraganglioma, retinoblastoma, or sarcoma.
  • Inherited syndromes that predispose a person or relative toward cancer — such as multiple intestinal polyposis, neurofibromatosis, or Cowden disease.
  • A known cancer-predisposing genetic mutation in the family.
  • Seeking intensive medical screening.
  • Wanting information on prophylactic surgery.
  • Considering DNA testing.
  • Wanting to discuss risk of cancer.
  • Seeking advice on lifestyle modification.
  • Wanting to determine if there's an association of already diagnosed cancer with inherited predisposition.
  • Wanting to discuss cancer risk in offspring/other family members.

The Cancer Genetics Program offers a broad range of diagnostic tools to identify increased cancer risk.

We perform cancer risk assessments may both when genetic testing is unavailable and when a person elects to forego testing, using epidemiological models and computer algorithms.

Cancer risk specialists, the patient, and his or her personal physician develop an individualized cancer surveillance and preventive strategy.

The family history of cancer is a necessary first step in identifying appropriate individuals and families for laboratory analysis because of the association of mutations in specific genes with:

  • Particular cancer types.
  • Ages of onset.
  • Patterns of inheritance.

Cancer risk assessment can provide accurate cancer risk information and cancer-screening guidelines. It can also determine the availability and appropriateness of genetic testing for cancer predisposition.

Most insurance companies cover genetic consultation fees and genetic testing. The risk of genetic discrimination seems minimal due to laws that protect against health insurance discrimination.

For familial cancer patterns that suggest mutations in particular cancer-predisposing genes, specific DNA-based tests are available.

The cost of genetic testing is separate from the cost of consultation. Patients often have genetic testing at outside reference laboratories.

Ideally, genetic counselors first perform testing on a blood sample from an affected, living person with a high pretest probability of carrying a germline mutation. In some, we may use tumor blocks from deceased, affected relatives.

The Cancer Genetics Program's team:

  • Identifies key family members for genetic testing.
  • Facilitates communication among relatives with strict attention to confidentiality.
  • Obtains blood or tumor blocks by using appropriate consent procedures.

For key relatives who do not live in the Pittsburgh area, the cancer genetics team coordinates genetic counseling and testing via an international network of genetic counselors and medical geneticists.

In general, it's necessary to screen the entire DNA sequence of the putative cancer-predisposing gene(s) in the first person tested in the family. This initial phase of testing is therefore the most expensive (about $1,000 to $3,000).

If we find a specific cancer-predisposing mutation in the affected family member, we can then offer genetic testing to unaffected relatives. Because we target the genetic analysis to the specific familial mutation, the cost decreases significantly for subsequent tests (to about $500 to $800).

When a family's ethnic background and pattern of cancers permit analysis of a narrower array of mutations, we may use a stepwise approach to the cost of testing. This targeted analysis may identify a mutation at a lower cost (about $750), but may require a full genetic analysis if we don't identify a mutation.

Stepwise approaches are also helpful for stratifying colon cancer genetic testing by analyzing tumor tissue for genetic instability — a genetic footprint for some inherited mutations.

Most importantly, those who test negative for the familial mutation can assume their cancer risk is that of the general population. This diminishes worry and eliminates the need for aggressive surveillance and preventive methods.

While the opportunity for DNA testing is an important part of the genetic counseling process, only about 10 percent of those with cancer are appropriate candidates for such tests.

Others 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.
  • Have a type of cancer for which no genetic tests currently exist.

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

Informed consent exists when the patient understands the following:

  • Purpose of genetic cancer testing.
  • Clinical significance of either positive or negative results.
  • Possibility that the test may not provide conclusive information.
  • Options for risk assessment without genetic testing.
  • Risk of passing mutations to children.
  • Options for withdrawing from testing before completion or for postponing receipt of results.
  • Medical options and limited proof of efficacy for screening and preventive measures.
  • Technical accuracy of test.
  • Risks for psychological distress.
  • Possible risk of employment or insurance discrimination.
  • Risk of discovering unexpected paternity.
  • Notification procedures to should follow, including contingency plans in case of death of originally identified person.
  • Specific means taken to protect confidentiality.
  • Fees involved in counseling and testing, including insurance reimbursement for the test.

Above all, the cancer genetics team at UPMC CancerCenter keeps results of both genetic testing and risk assessment at the highest level of confidentiality. We release results to the individual, and it is the Cancer Genetics Program's policy to provide referring physicians with a summary letter and a copy of the results.

An important part of the genetic counseling process at UPMC CancerCenter is to address each person's emotional concerns through support and counseling. Patients may also elect to have family members present for all or part of the counseling process.

Patients and their families may have theories about the cause of the cancers. When these theories are inaccurate, the counseling team explains why; when these theories have some basis in truth, the team helps to optimize the person's understanding. Our genetic counselors may refer some people for additional psychological support.

Because the questions raised in genetic counseling affect all family members — regardless of whether they have inherited a cancer-predisposition gene — we also address relatives' reactions to the results of genetic counseling, and their potential desire not to know.

Genetic counseling is, of course, also available to any family members who want it. There is an additional cost for blood relatives who undergo genetic counseling and testing.

In most cases, patients overestimate their risk for developing cancer; genetic counseling can greatly reduce exaggerated fears. However, program specialists emphasize that a baseline risk of cancer exists for everyone.

Cancer risk consultation occurs over one to three visits, often depending on whether we perform genetic testing. The Cancer Genetics Program offers unparalleled expertise in the region, bringing together the skills of genetic counselors, surgeons, and oncologists for the benefit of care. Board-certified genetic counselors as well as GI and endocrine surgery specialists join their premier capabilities in the genetic analysis of samples.

Typically, the purpose of genetic consultations is to:

  • Determine a person's concerns and intentions.
  • Review purpose of session.
  • Record detailed family history of cancer and premalignant conditions and assess familial risk.
  • Record medical history and suggest examination of the patient, if warranted, to rule out specific syndrome.
  • Educate the person about genetics and cancer.
  • Calculate cancer risk (e.g., for breast cancer), using epidemiological models and providing explanations.
  • Discuss whether family history best fits a sporadic, familial, or hereditary (genetic) pattern.
  • Discuss possible genetic syndromes that fit the familial cancer pattern.
  • Identify key relatives to pursue release of their medical records by consent.
  • Discuss feasibility of genetic testing, pretest probability for specific syndromes, risks and benefits of testing, and logistics of testing (cost, genetic discrimination, and confidentiality).
  • Assess which malignancies the patient may be at risk for developing.
  • 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.

The individual or referring physician usually initiates the first 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:

  • 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).

The person's first visit follows. Ideally, he or she will sent medical records before this visit. The counselor and the patient undertake a systematic review of family members with cancer, as well as those without cancer.

One of the central goals of genetic counseling is to develop surveillance and prevention strategies based on the person's risk of cancer.

Patients and genetic counselors discuss:

  • Prevention at the first meeting and can revisit it during any subsequent appointments.
  • Lifestyle factors and their limitations.
  • Cancer screening methods — such as mammography or colonoscopy — and their potential benefits and limitations.
  • Prophylactic surgery in depth, to provide an understanding of the potential benefits and risks involved.
  • Chemoprevention options, such as tamoxifen and raloxifene for breast cancer.

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

For those who meet generic testing criteria and wish to proceed, we can arrange blood draw during the first visit after we obtain written informed consent.

While some people make the choice to undergo genetic testing at their first visit, others defer blood draw until a second visit to allow them to consider the situation more completely.

At the second meeting, genetics counselors:

  • Finalize the medical record review.
  • Address lingering concerns and new questions generated by the first meeting.
  • Acquire written informed consent to draw blood.

Genetic testing results are generally available two to four weeks after we take the blood sample. At that point, the genetic counselor calls the patient to arrange a face-to-face disclosure meeting with the medical geneticist.

The counseling team will give the person another opportunity to refuse disclosure of the test results.

At the disclosure meeting, the medical geneticist and genetic counselor:

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

We also:

  • Identify family members for whom the genetic information may have a health impact.
  • Devise a plan for notifying relatives in a manner that balances patient autonomy with responsibility to notify those at increased cancer risk.

Those wishing to release test results to other family members will sign a release form indicating specifically whom can receive results.

  • Physicians can preview cases with Cancer Genetics Program specialists, or they can refer people 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.
  • People may schedule genetic consultations at multiple sites in Pittsburgh, at Magee-Womens Hospital, or the Hillman Cancer Center.

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

  • Get current days of operation and locations for genetic consults.
  • Refer people for consults.
  • Obtain more information about cancer genetics or DNA testing.
  • Request educational sessions for health care professionals.