The "Critical Element of Genetic Evaluation and Genetic Counseling" was written and approved by genetic professionals and perinatologists within the state of Washington. The document is to act as an aid to medical geneticists, genetic counselors, and perinatologists who practice within our state. This Critical Element of Genetic Evaluation and Genetic Counseling does not define the applicable standard of care, nor is it intended to dictate an exclusive course for the diagnosis, counseling, treatment or management of genetic conditions or birth defects. The authors acknowledge that appropriate clinical practices may vary depending upon a number of factors including, among others, the needs and choices of the individual patient, the resources available, and limitations unique to the particular institution or type of practice.

1. Review patient/family questions; reason for referral; knowledge base; perception of disease status and/or risk; what diagnoses have been considered; perceived notion about causation; assess need for professional interpreter: Assess potential motivations for and perceptions of genetic testing. If asymptomatic minor, testing should be deferred until legal adult (see ASHG position statement on testing children, 1995).

2a. Using standard symbols, obtain family history (1st and 2nd degree relatives to consultand, and further removed as appropriate). Note ethnic background, consanguinity, ongoing pregnancies, and other significant family history.

b. Additional directed family history: Ask for family history of all cancers, especially breast and ovarian cancer. For each cancer, note age of onset, laterality, mode of treatment, and prior environmental exposures.

c. Obtain relevant medical records on patient, including records of 1).appropriate tests/evaluations: including pathology reports, DNA test results, previous risk assessment 2). records bearing on management and 3). on other family members as needed:

3. Obtain prenatal and perinatal history of patient, including prenatal exposures, pregnancy complications and prenatal testing, when appropriate.

4. Obtain past medical history (including environmental/occupational exposures) focusing on: Obtain age at menarche/menopause, parity, age at first liveborn child, previous breast/ovarian screening. Assess environmental exposes (i.e. hormones).

5. Obtain information on growth and development, including school placement. For adult, also obtain information on education, employment and social functioning.

6. Assess family functioning and use of community resources. Assess personal, social, religious, ethnocultural issues.

7. Assess possible ethical concerns, such as confidentiality, non-paternity, insurability, discrimination, prenatal diagnosis: : genetic counseling/testing for other family member(s), prophylactic mastectomy/ oophorectomy, genetic testing in minors; evaluation of individuals at 25% risk.

8 Perform general physical examination of patient and/or other family members present if indicated, with attention to: breast exam or referral for appropriate screening if necessary.

9. Other issues to consider: : Inclusion of a support person in the genetic testing process, need for additional psychosocial support, experiences with cancer in friends or family members, patient’s concerns about non-genetic risk factors. Stress the importance of offering DNA testing of an appropriate affected family member prior to an unaffected family member. If genetic testing is done in a family member-that family member needs genetic services as outlined in the Critical Elements.

(this may occur in a series of multiple patient visits)

1. Summarize information obtained and discuss with patient/family the (possible) diagnosis and the degree of certainty of the diagnosis based on available information:

b). Discuss sensitivity/specificity of test(s)/evaluation(s): The sensitivity and specificity of the test is dependent on the technique used for mutation detection (e.g. ASO, CSGE, PTT, direct sequencing). Results are reported as positive, negative, or ambiguous: DNA testing provides information about susceptibility to cancer and does not identify the presence of cancer

3. Discuss the following issues related to natural history: prognosis, developmental outcome/intellectual functioning, anticipated possible medical complications, including pregnancy related risks for affected women if indicated, and preventive measures:

4. Review inheritance pattern (including penetrance and expressivity): Genetic heterogeneity with a small percentage of families showing autosomal dominant inheritance with incomplete penetrance and variable expressivity. Penetrance and expressivity are sex dependent.

5. Assess and discuss recurrence risk for future pregnancies, for affected and at risk individuals. Discuss general background risk for birth defects and recommendations for preconceptional and prenatal use of 0.4 mg folate per day. Including any additional risk based on family history/ethnicity/maternal age/maternal disease/maternal exposure/others; discuss recommendations for preconceptional folic acid supplementation:

6a. Discuss reproductive options (e.g. assisted reproductive technologies, adoption, taking risk and no additional pregnancies) when appropriate:

b. Discuss prenatal diagnostic options/issues:

(or referral for discussion of)

7. Review management recommendations/options including screening protocols:

8. Consider referral to: (medical specialties): oncologist, gynecological surgeon, psychologist or mental health professional

9. Address psychosocial issues including anticipatory guidance, patient and family reaction to diagnosis, need for community support services.

a. available local/national resources: See attached list

b. available written resources for families: See attached list

11. Document clinic visit, including persons present, and subsequent substantive contacts (e.g. clinic note, +/- letter to referral source, +/- letter to family; other). Contact referring health care provider as appropriate.

12. Other issues to consider: cost of genetic testing, genetic testing usually requires more than one visit. Visit 1: information and breast cancer risk assessment, Visit 2: discussion of genetic testing & blood draw, Visit 3: discussion of results.

13. References and/or other protocols:

American Cancer Society, (800) 227-2345. Cancer information, patient and family education materials, numbers for regional support groups and programs, free mammograms

National Cancer Institute Cancer Information Service, (800) 422-6237. Free publications, information on mammography sites, cancer information specialists. Provides access to PDQ, a database reviewed each month by cancer professionals. Accessed through Cancerfax, (301) 402-5874 or CancerNet: CancerNet@icicc.nci.nih.gov

Cancer Lifeline, 461-4542 or (800) 255-5505. 24 hour lifeline with emotional support and resource referral. For patients, family members and friends, etc. Movement workshop to help women regain confidence and control. Relaxation and stress-reduction for patients and caregivers; pain management and nutrition classes. All services free.

The Single Women's Breast Cancer Program. (206) 685-0836. Program offered by the UW School of Nursing. It provides a package of home-visitation services by clinical specialists for single women with breast cancer.

Y-Me National Organization for Breast Cancer Information, (800) 221-2141. Hotline staffed by counselors and volunteers who've had breast cancer. Information, referrals, support.

Susan G Komen Breast Cancer Foundation Hotline, (800) 462-9273. Information, referrals to treatment centers. Answers questions from recently diagnosed women and provides emotional support. Funds research and programs for women who do not have adequate medical services and support.

Washington Breast and Cervical Health Program for King County, (800) 756-5437 or (206) 284-0331. Free mammograms and health exams are available for low-income women, 40 and older, who lack adequate insurance.

The National Breast Cancer Coalition, (202) 296-7477 or (800) 935-0434. An advocacy group seeking public policy change to benefit breast cancer patients and survivors.

The National Alliance of Breast Cancer Organizations, (800) 719-9154. An advocacy group that serves as an umbrella for 370 breast cancer groups nationwide. Provides information, a newsletter, and treatment information. They also provides grants for programs on early detection and education.