The Impact of Angelina Jolie (AJ)’s Story on Genetic Referral and Testing at an Academic Cancer Centre in Canada

In May 2013, Angelina Jolie revealed to the media that she had undergone preventive double mastectomy after testing positive for a BRCA1 gene mutation. Media coverage has been extensive, but it is not clear how such a personal story affected the public and cancer genetics clinics. We conducted a retrospective review using data from the clinical database of the Familial Cancer Program at our centre. The impact of Ms. Jolie’s story on genetic counseling referrals and the appropriateness of such referrals were assessed and reported. The number of women referred for genetic counseling increased by 90 % after 6 months and remained high one year after AJ’s story with an increase of 88 % from baseline. The number of women who qualified for genetic testing increased by 105 % after 6 months; this increase persisted but was somewhat lower after one year with an increase of 68 % from baseline. Furthermore the number of BRCA1/2 carriers identified increased by 110 % after 6 months and by 42 % after one year.The effect of Mrs. Jolie’s story persisted one year after its release; however in the latter half of the year, the hereditary cancer risk of referred women was significantly lower than initially observed. The next challenge for our health care system will not only be to meet the increased demand for cancer genetic services in our region, but also to ensure that referrals and hence use of genetic counseling resources are appropriate.     

HIV-1-Associated Neuropathies

Peripheral neuropathy associated with human immunodeficiency virus type 1 (HIV-1) infection is a major cause of morbidity in this patient population. Due to the associated chronic pain, its management has come within the purview of neuropsychiatrists. This paper will focus on the primary pathogenic aspects of HIV-1-associated peripheral neuropathies. The specific syndromes of greatest concern are distal sensory polyneuropathy, toxic neuropathy, inflammatory demyelinating polyradiculoneuropathy, and cytomegalovirus-related progressive polyradiculoneuropathy. The treatments available for these conditions and their efficacy are discussed.     

Community-Based Research in India: A Case Example of International and Transdisciplinary Collaboration

While there has been a trend toward greater disciplinary collaboration over the last several decades, the emergence of the HIV pandemic has required that disciplines work more closely and creatively to generate the multiple and innovative approaches necessary to meet the demands for effective prevention and treatment. This paper describes the nature of collaborative relationships among U.S. and Indian anthropologists, psychologists, demographers, epidemiologists, physicians and representatives of other fields and sectors in conducting a large scale, multi-year HIV/STD prevention project directed toward married men in urban poor communities in Mumbai (Bombay), India. The project has challenged members of the participating disciplines to develop a transdisciplinary conceptual model, to test the model with community-based formative research and to utilize the results in the development and implementation of a multi-level (community, provider and patient) intervention. The paper describes the interaction among disciplines and international sectors in the conceptualization, methodology and community-based action components of the project. In addition, it examines both the inhibiting and facilitating factors that are a part of the collaborative process. The paper concludes with implications for future transdisciplinary partnerships.     

Educational Needs of Primary Care Physicians Regarding Direct-to-Consumer Genetic Testing

To assess the educational needs of North Carolina primary care physicians (PCPs) about direct-to-consumer (DTC) genetic testing, surveys were mailed to 2,402 family and internal medicine providers in North Carolina. Out of 382 respondents, 323 (85%) felt unprepared to answer patient questions and 282 (74%) reported wanting to learn about DTC genetic testing. A total of 148 (39%) were aware of DTC genetic testing. Among these, 63 (43%) thought DTC genetic testing was clinically useful. PCPs who felt either unprepared to answer patient questions (OR = 0.354, p = 0.01) or that DTC genetic testing was clinically useful (OR = 5.783, p = 0.00) were more likely to want to learn about DTC genetic testing. PCPs are interested in learning about DTC genetic testing, but are mostly unaware of DTC testing and feel unprepared to help patients with DTC testing results. Familiar and trusted channels that provide the information and tools PCPs need to help answer patient’s questions and manage their care should be used when creating educational programs.