Practice Guideline Information Sheet

Guideline Title [Required]

Referral Guideline for Genetic Counseling for Inherited Susceptibility for Breast and Ovarian Cancer due to BRCA1/2 Defects

Date Submitted [Required] Approved By: (Dept & Person) [Required]

July 2005 / Eric France, MD, Chief of Preventive Medicine, Women’s Health Task Force
Regional Prevention Committee

Contact [Required] person to contact regarding this guideline’s content

Sue Jane Fox

Department

/ Prevention

Phone

/ 303-344-7256 /

Email

/

Author(s)

Judy Mouchawar, MD
Women’s Health Task Force

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Genetic Risk, BRCA, Breast Cancer, Breast Cancer Gene, Ovarian Cancer, Genetic Screening

Abstractor other summary description of this guideline

BRCA 1 and 2 are genetic alterations linked with an inherited risk of breast and/or ovarian cancer. Women who carry these genes have a multi-fold increased risk for breast and/or ovarian cancer. This guideline describes how to identify potential candidates for screening and the referral process for genetic counseling and testing.

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Practice Guideline Plan Sheet

What is the intended clinical outcome of implementing this guideline ?

Patients with the potential for genetic alterations associated with increased risk for breast and/or ovarian cancer will be identified and offered genetic counseling and the opportunity for testing, if so desired.
Women who are known to carry the genetic alteration will be more aggressively monitored and screened.

What is the implementation plan?

The original guideline was presented to clinical departments throughout the region in 2002. It was also presented at both sessions of the Breast Health Update in August and October 2002.
Patients identified with the risk of genetic alteration (usually in primary care or general surgery) will be referred for counseling and, possibly, genetic testing.
Guideline will also be available in the Permanente Knowledge Connection (pkc.kp.org) intranet site.

What is the plan for evaluating the outcome of implementing this guideline?

Referral patterns to genetic counseling will be monitored and positive results incorporated into the Breast Cancer Screening database.

Practice Guideline Attachment Sheet

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These guidelines are informational only and are not intended to substitute for the reasonable exercise of independent clinical judgment of the providers using the guideline. The guidelines are to be used in conjuction with the provider's clinical judgment in developing care and treatment that is designed for the individual needs of the patient.

  1. Rationale
  2. Target Patient Population
  3. Setting for application of the guideline
  4. Source of evidence
  5. Recommendations

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Date: Reviewed and Approved July 2005

Title: Genetic Testing for Inherited Susceptibility for Breast and Ovarian Cancer

These guidelines are informational only and are not intended or designed to substitute the reasonable exercise of independent clinical judgment by providers in any particular set of circumstances for each patient encounter. The guidelines are flexible and are intended to be used as a resource for integration with a sound exercise of clinical judgment. They can be used to create an approach to care that is unique to the needs of each individual patient. The implementation of this guideline is not intended to conflict with any agreed upon health plan benefits nor is it intended to prevent access to care that the practitioner believes is warranted based on clinical judgement

Rationale:

BRCA1 and BRCA2 were the first two major breast cancer susceptibility genes isolated. Clinically significant alterations in BRCA1 and BRCA2 are responsible for approximately 5% of all cases of breast cancer. BRCA1 and BRCA2 mutations account for the majority, but not all, hereditary forms of breast and ovarian cancer. Only about 2/1000 women in the general population have a clinically significant alteration in a BRCA1 or BRCA2 gene. If a woman inherits an altered BRCA1 or BRCA2 gene, her lifetime risk of developing breast cancer may be increased by as much as seven-fold (from about 12% to as much as 85%). For ovarian cancer her lifetime risk may be increased by as much as 28-fold (from about 1.8% to as much as 50%). Men who have an alteration in BRCA1 or BRCA2 are also believed to have an increased risk of developing breast cancer (from 0.1% to as much as 6%). The chance of having an alteration in the BRCA1 or BRCA2 gene is significantly increased in individuals:

---who have a personal history of breast cancer under age <50

---of Ashkenazi Jewish ancestry who have breast cancer under age 50 or ovarian cancer at any age

---who have multiple cases of breast and/or ovarian cancer in blood relatives from the same family line across multiple generations

---who have a personal or family history of male breast cancer

---who have a family member who has previously been tested and found to have a significant alteration in the BRCA1 or BRCA2 genes.

For those who fall into any of these categories of increased risk, genetic testing is available to test for alterations in both the BRCA1 and BRCA2 genes. If clinically significant alterations are detected, treatment options include:

---More frequent mammography screening and clinical examination

---Prophylactic mastectomy and reconstruction

---Regular ovarian cancer screening

---Prophylactic oophorectomy

---Prophylactic Tamoxifen

Genetic counseling provides people with information about their candidacy for testing, their risk of having a clinically significant alteration in the BRCA1/2 genes, their risk of developing breast and ovarian cancer, the potential benefits and harms of testing, the available options depending on their test result and the legal ramifications of being tested. This guideline is intended to identify those most clinically appropriate to counsel and test for BRCA1/2 alterations.

Target Population: Women age 18 and over.

Source of Evidence: Kaiser Permanente National BRCA1 Documents (Quality of Evidence = I)

Malone, Kathleen E, Daling, Janet R, Thompson, Jennifer D, et. al. BRCA1 Mutations and Breast Cancer in the General Population, JAMA 1998;279:922-929.

Settings for Application: Internal Medicine, Family Practice, Ob/Gyn, Surgery, Oncology

Methods for Measuring Compliance: HRA assessment of altered gene potential and monitoring of referral patterns to genetic counseling.

Responsible Party: Sue Jane Fox, Prevention, , 303-344-7256

Approval: Chief, Preventive Medicine

Next Review Date:July 2007

Referral Guideline for Genetic Counseling for Inherited Susceptibility

for Breast and Ovarian Cancer due to BRCA1/2 defects

1. Candidates for referral to genetic counseling on the basis of their personal and family history are listed in Table 1. A “personal history” of cancer refers to an individual who currently has breast or ovarian cancer, or who has had cancer (including people who are currently free of disease). A “family history” in “blood relatives” refers to cancers occurring in the maternal family line or in the paternal family line. “First-degree relatives” are parents, siblings, and children. “Second degree relatives” are aunts, uncles, grandparents, grandchildren, nieces, nephews or half-siblings. “Ashkenazi Jewish descent” refers to Jews of Eastern European descent. Most American Jews are Ashkenazi. A history of breast or ovarian cancer in a paternal relative is important because a father can pass alterations on to his offspring without developing cancer himself. To determine the frequency of breast or ovarian cancer in a person’s family line, count the number of affected blood relatives in the maternal family and in the paternal family separately (do not add the number of relatives affected with cancer on both sides of the family together).

2. Providers can reassure women who do not meet the criteria for referral to genetic counseling (listed in Table 1) that they have a relatively low probability of having an alteration in a breast or ovarian cancer susceptibility gene. These women should be managed in accordance with current regional guidelines for breast and ovarian cancer screening. Although these women may be at low probability of a BRCA1 or BRCA2 mutation, they may still have increased hereditary risk for cancer due to other genetic mutations. Thus, these women should not be managed as low risk, but management should be in accordance with family history.

3. Women who have a personal or family history that is not strong enough to meet criteria in Table 1, but who have very significant anxiety about their risk of developing breast or ovarian cancer despite reassurance, may also be considered for referral for genetic counseling. There may be benefit in genetic counseling referrals for women with a family history of breast cancer not meeting the criteria for BRCA1/2. For example, women who have a single first degree relative with pre-menopausal breast cancer may benefit from risk assessment and counseling regarding personal risk. Note that referral for counseling does not necessarily mean that all these women will be tested for BRCA1/2. Women not meeting the BRCA1/2 criteria should be informed that while counseling is a covered benefit, BRCA1/2 testing will only be covered if the woman’s personal risk for an inherited gene defect is 10% or greater.

4. Genetic counseling or BRCA testing is not recommended for people who are:

•not identified as meeting criteria as found in Table 1;

•under 18 years of age;

•unable to provide informed consent;

•cognitively or psychologically impaired to a degree that would preclude testing;

•interested in BRCA1/BRCA2 prenatal testing

5. There are other syndromes of genetic susceptibility for cancer for which referral for genetic counseling and testing will also be considered. Familial patterns include colon cancer and combinations of colon and endometrial cancer, colon and ovarian cancer, breast and thyroid cancer, and breast cancer, brain cancer and sarcoma.

Table 1--Criteria for Referral for Genetic Counseling (BRCA1/2)

I. Persons with a family history but no personal history of female breast and/or ovarian cancer in blood relatives from a single (same side) family line with at least one of the following:

1.Breast cancer in at least:

a.two first or second degree relatives (mother, sister, daughter, grandmother, aunt, niece, or half sister) both diagnosed before age 50 and

b.at least one of the relatives is first degree (mother, sister, or daughter) or

c.three first or second degree relatives with at least one diagnosed before age 50

2.Ovarian cancer in at least two first or second degree relatives

3.Breast cancer in at least one first or second degree relative and ovarian cancer in at least one first or second degree relative

II.Persons with a personal history of female breast and/or ovarian cancer but no family history, with at least one of the following:

1.Breast cancer diagnosed before age 50

2.Breast cancer diagnosed before age 50 and Ashkenazi Jewish descent

3.Ovarian cancer and Ashkenazi Jewish descent

4.Breast and ovarian cancer

5.Multiple primary breast cancers

III.Persons with a personal and family history (in blood relatives from a single family line) of female breast and/or ovarian cancer with at least one of the following:

1.Breast cancer diagnosed before age 50 and one or more first or second degree relatives with breast cancer diagnosed before age 50

2.Two or more first or second degree relatives where

a.any relatives were diagnosed before age 50, or

b.ovarian cancer in one or more first or second degree relatives

  1. ovarian cancer plus one or more first or second degree relatives with breast or ovarian cancer

IV. Persons with male breast cancer or persons with a family history of male breast cancer regardless of age of onset and regardless of other personal or family cancer history.

V. Persons with a first or second degree blood relative who has previously been tested and

found to have a clinically significant alteration in a BRCA1/2 gene

Revised 2005 Prevention Department