Sharon J. Durfy

Genetic counseling for women with an intermediate family history of breast cancer

Women with a family history of breast cancer often over-estimate their personal risk for cancer and may view themselves as candidates for genetic testing even when the likelihood of an informative test result is low. We report here on genetic counseling of women with an intermediate family history of breast cancer, defined as women who have one or more biological relatives with breast cancer but whose pedigree suggests a low likelihood of autosomal dominant transmission. A genetic counseling protocol based on traditional genetic counseling strategies was developed with additional components added to address the needs of women with moderately increased breast cancer risk. These additional components included information about non-genetic risk factors, comparisons of high and moderate risk pedigrees, and evaluation of personal risk based on both genetic and nongenetic risk factors. Most participants liked the genetic counseling and found it useful. At baseline, participants over-estimated both their personal risk of breast cancer and that of the average woman. After counseling, estimates of personal and average risk of breast cancer were lower, although both remained higher than actual risk. Most participants reported that they felt less worried about breast cancer after receiving their personal-risk estimate. At baseline, most women judged themselves to be candidates for genetic testing and expressed interest in testing. The number who considered themselves candidates for testing was reduced after counseling (60% versus 82%) but still constituted a majority. Similarly, interest in testing was partially reduced by counseling (60% versus 91%). We conclude that genetic counseling can help women with an intermediate family history of breast cancer to develop more accurate views of their risk, reduce their breast cancer worry, and aid some of them in developing a more realistic view of genetic testing.

Genetic testing for cancer risk: a population survey on attitudes and intention.

Objective: Genetic testing for cancer risk will shortly enter medical practice. Our intent was to increase the understanding of the public’s attitudes towards and potential demand for genetic testing. Methods: We conducted a random-digit-dial survey of 1,450 adults in Washington State to assess the public’s attitudes toward genetic testing for cancer risk and to investigate correlates of intention to be tested for breast cancer risk (women) and prostate cancer risk (men). No specific genes were mentioned, as the intent of the survey was to understand the general interest in screening for genetic risks. The survey addressed familiarity with genetic testing, intention to be tested for breast or prostate cancer risk (when tests become available), benefits and risks associated with genetic tests, and who should have access to test results. Results: Most respondents expressed the intention to be tested for breast or prostate cancer risk (women 76%, men 83%). Most women (83%) and men (74%) would give the results to their primary care physician, but fewer believed that the test results should be available to their employer (women 5%, men 9%), their health insurer (women 32%, men 31%), or family members (women 42%, men 43%). Over 60% worried that discrimination could arise from genetic testing. Correlates of intention to be tested for breast cancer (women) included a family history of breast cancer, lower education, poor health, a history of mammography screening, and more physician visits in the past year. Among men, correlates of intention to test for prostate cancer included higher income, previous cancer diagnosis, a history of PSA screening, and more physician visits in the past year. Respondents who strongly believed in the benefits of genetic testing, who perceived themselves at greater risk for having a gene that increases risk, or who were less worried about discrimination expressed greater intent to be tested. Conclusions: Our survey suggests that the demand for genetic tests for cancer risk may be high, although confidentiality of test results is a major concern. Health care providers, genetic counselors, and research institutions should prepare strategies and policies for genetic testing and counseling as these tests enter general medical practice.

Testing for inherited susceptibility to breast cancer: a survey of informed consent forms for BRCA1 and BRCA2 mutation testing

The identification of genetic mutations linked to breast cancer has made it possible to test for the genetic predisposition to this disease. However, though this test may provide certain benefits, there are also potential risks involved with the testing process, including social and economic considerations. In light of these potential risks, we sought to determine what information individuals are receiving in the informed decision making process. To learn the minimal amount of information the actual testees receive, we obtained 10 informed consent forms from seven different testing facilities. These testing centers include the major sources of BRCA1 and BRCA2 mutation testing in the United States at this time. We analyzed the content of these forms by developing content categories and scoring them appropriately. We found all ten forms discussed in varying ways and to varying degrees the purpose of genetic testing, limitations of the test, implications of both positive and negative results, and confidentiality procedures; most, but not all, addressed various psychological and insurance risks. Overall, the forms demonstrated substantial variation in content and organization, underlining the need for more discussion and research on the purpose, nature, and effectiveness of informed consent forms for this type of genetic test.

Opportunities for Public Health Genetics Trainees: Results of an Employer/Workplace Survey

Objective: To conduct the first employer/workplace survey identifying employment opportunities for graduates of programs with training in public health genetics in the USA, and to determine whether employment opportunities will increase in coming years. Methods: Six public health genetics training competencies were developed. A survey about workplace and employment opportunities was then conducted with mailings to (1) departments in schools of public health and departments of preventive medicine, (2) local and regional public health officials, (3) insurance companies and health management organizations (HMOs), and (4) biotechnology and pharmaceutical companies. Results: A total of 196 surveys were returned among 1,464 that were mailed. Response rates varied from 5.8 to 46.5% among the target groups. The percent of responding organizations currently employing individuals with skills in genetics ranged from 20 to 62%. The percent currently employing individuals with skills in public health ranged from 39 to 96%. Training opportunities such as internships or practicum experiences are reported for one-third of respondents. For all of the competencies, approximately half of survey respondents who rated the competency important or very important already employ individuals with public health genetics skills. Similarly, at least a quarter of survey respondents who rated the competency important or very important plan to hire individuals with that skill in the next 5 years. Overall, approximately 40% of those surveyed are planning to hire individuals with competencies in public health genetics in the next 5 years. Conclusion: Employment opportunities already exist and new positions are becoming available in schools of public health and departments of preventive medicine, departments of public health, insurance companies and HMOs for professionals with public health genetics training. Based on our survey findings, skills and training in public health genetics are important in the workplace.

Contents Vol. 1, 1998

93 Translating Advances in Human Genetics into Disease Prevention and Health Promotion. First Annual Conference on Genetics and Public Health, Atlanta, Ga., May 13–15, 1998 Khoury, M.J. (Atlanta, Ga.); Puryear, M. (Rockville, Md.); Thomson, E. (Bethesda, Md.); Bryan, J. (Washington, D.C.) 109 Book Review No. 1