Andrea Farkas Patenaude

Anticipated Versus Actual Emotional Reactions to Disclosure of Results of Genetic Tests for Cancer Susceptibility: Findings From p53 and BRCA1 Testing Programs

PURPOSE We examined the ability of individuals undergoing genetic testing for cancer susceptibility in two structured research protocols to accurately anticipate emotional reactions to disclosure of their test result. We explored whether accuracy of emotional anticipation was associated with postdisclosure psychologic adjustment. METHODS Data from 65 individuals were analyzed; 24 members of Li-Fraumeni cancer syndrome families were tested for p53 mutations (all 24 were unaffected), and 41 subjects with hereditary breast-ovarian cancer susceptibility were tested for BRCA1 mutations (34 were unaffected and seven were affected). Subjects were from families in which a germline mutation had been previously identified. At the pretest session, subjects rated the extent to which they anticipated feeling each of six emotional states (relief, happiness, sadness, guilt, anger, and worry) after disclosure that they did or did not carry the familial mutation. After receiving their test result, they rated their feelings on the same scale of emotions for the appropriate condition. Extent of accuracy and association with psychologic distress at 6 months, as assessed with standardized measures, were evaluated. RESULTS Overall, mean levels of emotional reactions after receiving test results were not different from those anticipated before result disclosure. However, affected BRCA1 carriers experienced higher levels of anger and worry than they had anticipated. Underestimation of subsequent distress emotions related to test result was associated with a significant increase in general psychologic distress at 6 months. CONCLUSION Unaffected individuals in cancer-predisposition testing programs are generally accurate in anticipating emotional reactions to test results. However, cancer patients may underestimate their distress after disclosure of positive results and could benefit from intervention strategies.

Sharing BRCA1/2 Test Results With First-Degree Relatives: Factors Predicting Who Women Tell

PURPOSE Patient communication with relatives about cancer genetic test results is the primary means for alerting those who may benefit from identification of hereditary risk. This study identifies factors predicting patterns of disclosure of BRCA1/2 test results to first-degree relatives (FDRs) among women tested in a clinical protocol. PATIENTS AND METHODS A total of 273 women completed a family communication measure 4 months after BRCA1/2 result disclosure. chi2 analyses and logistic regression models identified factors predicting sharing of the test result. RESULTS Most FDRs were informed of the participants test result by 4 months; female relatives were more likely to be informed than males. Tested women conveyed inconclusive results (variant or negative without known familial mutation) less frequently to their sisters than conclusive (positive/true negative) results (P = .03). Twenty-three percent of participants did not inform their father. Informing brothers was more likely when BRCA1/2 was inherited through paternal lineage (P = .04), but 29% of brothers were not informed. Women older than age 40 were less likely to share their result with their parents (P = .03) than were women < or = 40. Childrens ages influenced communication to offspring; most children were told. CONCLUSION Demographic, health-, and test-related factors predicted genetic test result communication to FDRs. Additional research investigating the full spectrum of discussion within families and motives for incomplete sharing of genetic test results with relatives may suggest strategies for providers and targeted educational interventions for patients to enhance family communication.

Educational, occupational, and insurance status of childhood cancer survivors in their fourth and fifth decades of life.

PURPOSE Survivors of childhood cancer who are now greater than or equal to 30 years of age are available for study in significant numbers for the first time. An evaluation of their educational achievement, current employment status, frequency of problems in the work-place, and ability to obtain affordable health and life insurance was the aim of this study. PATIENTS AND METHODS This was a case-control study of 219 childhood cancer survivors with individually matched controls from two tertiary-care pediatric centers. Telephone interviews were used and drew on a 356-item basic instrument for both subjects and controls. Medical (including intensity of therapy), marital, and psychosocial areas were included in the survey, but statistical comparisons concentrated on educational and economic issues. RESULTS The overall current status of survivors and controls in the relevant areas, ie, education, employment, and insurance, was similar. A history of employment discrimination for entry into the uniformed services and in other special situations, and life insurance discrimination during the initial years after the completion of therapy was noted. Survivors experienced few problems in the work-place. Survivors of CNS tumors were unique, with problems in many of the areas studied, although there were notable individual exceptions. CONCLUSION With the exception of those individuals with CNS tumor histories, survivors who were treated in the era of 1945 to 1975 had few economic sequelae of cancer or its therapy that extended beyond the first decades after treatment.

Recommendations of core competencies in genetics essential for all health professionals

Genetic scientific discoveries made throughout the last decade already have a tremendous influence on health care. Understanding the role genetics plays in health and disease provides the means to integrate such information into prevention, diagnosis, and treatment of many common diseases to improve the health of society. Genetic information and technologies are increasingly making their way into health care.1 Yet, while patients are beginning to ask providers about—and even request— genetic services, primary care providers face economic and institutional barriers to incorporating genetic factors into management of patients.2 As outlined by the Institute of Medicine Report on the Future of Public Health,3 public health agencies will have an increasing role in assessing the health needs of populations, working with the private sector in ensuring the quality of genetic tests and services, and evaluating the impact of interventions on medical, behavioral, and psychosocial outcomes. The Department of Health and Human Services Secretary’s Advisory Committee on Genetic Testing (SACGT) is addressing the need to provide access to high-quality genetic testing when appropriate and effective.4 Ultimately health professionals, regardless of specialty area, role, or practice setting, will face questions about the implications of genetics for their patients and communities. The fast pace of genetics research advances, the paucity of professional training in genetics, and the widespread underestimation of the value of genetics in medical decision-making leaves many providers without up-to-date answers.5 The National Coalition for Health Professional Education in Genetics (NCHPEG) was founded by the American Medical Association, the American Nurses Association, and the National Human Genome Research Institute in an attempt to bridge this gap in genetic knowledge. This coalition of organizations constitutes an interdisciplinary, collaborative, and national effort to promote health professional education about application of human genetics information. NCHPEG members are representatives from more than 100 diverse organizations including consumer and voluntary groups, private industry, managed care organizations, government agencies, health professional societies, and genetics organizations (Appendix). Membership is voluntary, with representatives selected by their respective organizations. Read more about NCHPEG at the Web site (http://www.nchpeg.org/). NCHPEG seeks to gain from the diverse expertise and experience of member organizations working toward mutually identified goals. NCHPEG solicits group members to work together to address several priorities, including the identification of core competencies in genetics essential for all health professionals. Implicit goals of seeking consensus on basic genetics competencies among NCHPEG members were (1) to validate the importance of a basic foundation in genetics for health care, (2) to foster the use of common terminology, (3) to increase the consistency of genetics education efforts across the disciplines, (4) to facilitate active discourse about the relative role of the different professions in the provision of genetic services, and (5) to reduce duplication of effort. Achievement of each of these goals will require disciplines to recognize the need for genetics education, to integrate genetics concepts into their current educational resources, and to utilize these competencies to design new programs.

Standards for the Psychosocial Care of Children With Cancer and Their Families: An Introduction to the Special Issue

Pediatric oncology psychosocial professionals collaborated with an interdisciplinary group of experts and stakeholders and developed evidence‐based standards for pediatric psychosocial care. Given the breadth of research evidence and traditions of clinical care, 15 standards were derived. Each standard is based on a systematic review of relevant literature and used the AGREE II process to evaluate the quality of the evidence. This article describes the methods used to develop the standards and introduces the 15 articles included in this special issue. Established standards help ensure that all children with cancer and their families receive essential psychosocial care. Pediatr Blood Cancer

Gender Differences in Research Grant Applications and Funding Outcomes for Medical School Faculty

PURPOSE To evaluate whether there were differences in acquisition of research grant support between male and female faculty at eight Harvard Medical School-affiliated institutions. METHODS Data were obtained from the participating institutions on all research grant applications submitted by full-time faculty from 2001 through 2003. Data were analyzed by gender and faculty rank of applicant, source of support (federal or nonfederal), funding outcome, amount of funding requested, and amount of funding awarded. RESULTS Data on 6319 grant applications submitted by 2480 faculty applicants were analyzed. Women represented 29% of investigators and submitted 26% of all grant requests. There were significant gender differences in the mean number of submissions per applicant (women 2.3, men 2.7), success rate (women 41%, men 45%), number of years requested (women 3.1, men 3.4), median annual amount requested (women

Psychological costs of bone marrow transplantation in children.

115,325, men

Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium

150,000), mean number of years awarded (women 2.9, men 3.2), and median annual amount awarded (women

Genetic Testing and Psychology: New Roles, New Responsibilities.

98,094, men

Acceptance of invitations for p53 and BRCA1 predisposition testing: Factors influencing potential utilization of cancer genetic testing

125,000). After controlling for academic rank, grant success rates were not significantly different between women and men, although submission rates by women were significantly lower at the lowest faculty rank. Although there was no difference in the proportion of money awarded to money requested, women were awarded significantly less money than men at the ranks of instructor and associate professor. More men than women applied to the National Institutes of Health, which awarded higher dollar amounts than other funding sources. CONCLUSIONS Gender disparity in grant funding is largely explained by gender disparities in academic rank. Controlling for rank, women and men were equally successful in acquiring grants. However, gender differences in grant application behavior at lower academic ranks also contribute to gender disparity in grant funding for medical science.