BRCA Previvors: Medical and Social Factors That Differentiate Them From Previvors With Other Hereditary Cancers

Commentaire / CommentaryDans cet article, je décris quelques-unes des raisons pour lesquelles les « previvors » de BRCA (c-a-d. « survivants d ’ u n e prédisposition au cancer ») sont différents des previvors avec d’autres cancers héréditaires. J’examine comment l’absence d’une norme de soins pour le risque de cancer du sein chez les femmes ayant une mutation BRCA, associée à un large éventail de pénétration génétique et une mortalité plus faible, rend le BRCA différent des autres cancers héréditaires qui ont des directives claires et établies. En plus de ces différences médicales, des facteurs sociaux tels que la prééminence culturelle du cancer du sein et la signification sociale des seins ont engendré une identité prédictive individuelle plus complexe et une réponse culturelle aux femmes ayant une mutation BRCA.In this paper, I outline some of the reasons why BRCA “previvors” (i.e., “survivors of a predisposition to cancer”) are different from previvors with other hereditary cancers. I examine how the absence of a standard of care for breast cancer risk for women with a BRCA mutation, coupled with a broad range of genetic penetrance and lower mortality, makes BRCA different than other hereditary cancers that have clear and established guidelines. In addition to these medical differences, social factors like the cultural prominence of breast cancer and the social significance of breasts have engendered a more complicated individual previvor identity for and cultural response to women with a BRCA mutation

Patients educating health care providers on Lynch syndrome

Objective: Lynch syndrome (LS) patients are at an elevated risk for early-onset cancers, including endometrial and colorectal (CRC). Prior research has shown a deficit in provider knowledge of LS, which may affect patient satisfaction and adherence to recommended screening and surveillance regimens. Studies suggest patients with LS may educate providers perceived as lacking LS knowledge; however, little is known about these interactions. The goal of this study is to assess patient-reported outcomes from clinical interactions where LS patients educate their providers. Methods: Participants (n=55) were asked to complete an in-depth telephone interview. Results: Out of 55 participants, approximately two-thirds (n=37) reported engaging in educational interactions. Participants reported feeling satisfied with the provider response in over half of the reported educational interactions (n=24). Participants reported changes in their patient-provider relationship ranging from improvements in their relationship to termination of services. Conclusion: Patients with LS report educating providers on their diagnosis as well as their screening and surveillance requirements. Patient-reported outcomes of these educational interactions vary based on the provider’s response to the interaction. Providers should be open and receptive to these educational interactions and follow-up on the discussion to improve patient satisfaction

Proceedings of the Working Group Session on Fertility Preservation for Individuals with Gender and Sex Diversity

Children and adolescents with gender and sex diversity include (1) gender-nonconforming and transgender individuals for whom gender identity or expression are incongruent with birth-assigned sex (heretofore, transgender) and (2) individuals who have differences in sex development (DSD). Although these are largely disparate groups, there is overlap in the medical expertise necessary to care for individuals with both gender and sex diversity. In addition, both groups face potential infertility or sterility as a result of desired medical and surgical therapies. The Ann and Robert H. Lurie Children's Hospital of Chicago (Lurie Children's) gender and sex development program (GSDP) provides specialized multidisciplinary care for both transgender and DSD patients. In response to patient concerns that recommended medical treatments have the potential to affect fertility, the Lurie Children's GSDP team partnered with experts from the Oncofertility Consortium at Northwestern University to expand fertility preservation options to gender and sex diverse youth. This article summarizes the results of a meeting of experts across this field at the annual Oncofertility Consortium conference with thoughts on next steps toward a unified protocol for this patient group.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/140296/1/trgh.2016.0008.pd

A View from the Past Into our Collective Future: The Oncofertility Consortium Vision Statement

Today, male and female adult and pediatric cancer patients, individuals transitioning between gender identities, and other individuals facing health extending but fertility limiting treatments can look forward to a fertile future. This is, in part, due to the work of members associated with the Oncofertility Consortium. The Oncofertility Consortium is an international, interdisciplinary initiative originally designed to explore the urgent unmet need associated with the reproductive future of cancer survivors. As the strategies for fertility management were invented, developed or applied, the individuals for who the program offered hope, similarly expanded. As a community of practice, Consortium participants share information in an open and rapid manner to addresses the complex health care and quality-of-life issues of cancer, transgender and other patients. To ensure that the organization remains contemporary to the needs of the community, the field designed a fully inclusive mechanism for strategic planning and here present the findings of this process. This interprofessional network of medical specialists, scientists, and scholars in the law, medical ethics, religious studies and other disciplines associated with human interventions, explore the relationships between health, disease, survivorship, treatment, gender and reproductive longevity. The goals are to continually integrate the best science in the service of the needs of patients and build a community of care that is ready for the challenges of the field in the future

How Gene Patents May Inhibit Scientific Research

In this paper, we point out three possible ways gene patents could impede scientific research. First, gene patent laws might exacerbate the culture of secrecy ubiquitous in science. Second, gene patents may limit researchers’ ability to study poly or multigenic diseases without access to all genetic etiologies. Third, gene patents could result in a “patent thicket”.Dans cet article, nous mettons en évidence trois façons dont les brevets sur les gènes pourraient nuire à la recherche scientifique. Premièrement, les lois relatives aux brevets sur les gènes risquent d’exacerber la culture du secret omniprésente en science. Deuxièmement, sans un accès à toutes les étiologies génétiques, les brevets sur les gènes peuvent limiter la capacité des chercheurs à étudier les maladies poly ou multigénétiques. Troisièmement, les brevets sur les gènes pourraient aboutir à un « maquis de brevets »