Hereditary Cancer Genetic Panel Testing: A Review of the Literature

Cancer genetic testing (CGT) is a powerful diagnostic test that improves cancer prevention and early detection among individuals at high genetic risk of cancer. Since the completion of the mapping of the Human Genome Project, CGT has become increasingly available in the clinical setting. However, as gene discovery and sequencing technology improve, the impact of these advancements on patients is less understood. The use of multigene cancer gene panel tests has become increasingly prevalent; as such, the likelihood of incidental or inconclusive findings has increased. The author conducted a literature review to outline the science on CGT methods, the psychosocial responses to testing among patients, and the unique role of nurses in this process. A significant gap in the literature exists regarding multigene cancer genetic panel tests and the associated experiences and decision-making processes among individuals who have had testing. Future research will specifically explore the experiences of young women with breast cancer who have undergone hereditary cancer risk assessment genetic panel testing that reveals incidental or inconclusive findings

Personal Identity Changes of Female Cancer Survivors in Southern Appalachia

Navigating personal identity changes through the cancer journey can be challenging, especially for women in a culture that places emphasis on traditional gender roles and values close-knit families. Drawing on a story circule approach, this study examined the intersecting identities of female cancer survivors in southern Appalachia. Stories of 29 female Appalachian cancer survivors from Northeast Tennessee and Southwest Virginia were collected via a mixed methods approach in either a day-long story circule (N-26) or an in-depth interview (N=3). Transcripts from both phases were audio-recorded and transcribed verbatim; NVivo 8.0 facilitated qualitative content analysis of the data. Inductive analysis revealed that women in this study appeared in struggle with (1) maintaining place in the family, (2) mothering, and (3) navigating physical changes. Ideas of family versus self appeared to overlap and intertwine with how women in Appalachia navigate personal identify changes through the cancer journey

Navigating Family Cancer Communication: Communication Strategies of Female Cancer Survivors in Central Appalachia

In a multiphasic study, the stories of 29 female Appalachian cancer survivors were collected through either a day-long modified story circle event (n=26) or an in-depth interview (n=3). Qualitative content analysis was used to identify emergent themes in the data. The analysis revealed 5 types of family cancer communication including both pre-diagnosis and postdiagnosis cancer communication strategie

Omnibus Survivorship Narratives: Multiple Morbidities Among Female Cancer Survivors in South Central Appalachia

This study examines the illness narratives of female cancer survivors living in Southern Central Appalachia. Stories of 29 female Appalachian cancer survivors from northeastern Tennessee and southwcstmn Virginia were collected via a mixed methods approach in either a day-long story circle (n=26) or an in-depth interview (n=3), Qualitative content analysis was used to guide an inductive analysis of the tTanscript\u3c;, What emerged was that as participants survived cancer, they also survived other health conditions, their intorsccting stories yielding an omnibus survivorship narrative

Local Implementation of Cancer Control Activities in Rural Appalachia, 2006

Underserved communities with high cancer rates often are not involved in implementing state cancer control activities locally. An East Tennessee State University research team formed 2 Appalachian Community Cancer Research Review Work Groups, 1 in northeast Tennessee and 1 in southwest Virginia. During 4 sessions, the research team presented regional cancer data to the work groups. Work group participants explored research from a lay perspective and identified possible reasons for cancer disparities in central Appalachia. The fifth session was a community dissemination activity in which work group participants engaged in cancer education and action by presenting the research to their local communities in unique ways. During a sixth session, both work groups discussed these interventions and further attempted to answer the question, "What makes the experience of cancer unique in Appalachia?" This article describes the key steps of this community-based participatory research process

Culturally Tailored Cancer Communication, Education, and Research: The Highways and Back Roads of Appalachia

We have varying experiences with Appalachia, yet we all agree that there is a unique relationship between Appalachians and cancer. Two of us are nurses who have worked with various communities. Two of us grew up here; 1 watched several of her relatives battle cancer in their Appalachian homes. All of us are scholars who want to talk with practitioners and researchers who are developing culturally tailored cancer control interventions. This goal to have a dialogue emerged after we had a series of discussions about cancer in Appalachia, discussions resulting in our developing a list of cultural traits that seem to be related to this region’s high cancer morbidity and morality (Table). For example, in one of our previous publications we describe the association between the traditional Appalachian oral culture and the cancer experience, finding that cancer stories appeared to pass from 1 generation to the next (1). In turn, these stories seem to affect some community members\u27 willingness to be screened. Our essay\u27s purpose is not to justify the elements presented in the Table. Rather, we write to consider the following: What are the advantages and disadvantages of making generalizations about a culture that has already been marginalized by overgeneralizations

Mothered, Mothering & Motherizing in Illness Narratives: What Women Cancer Survivors in Southern Central Appalachia Reveal About Mothering-Disruption

Informed by a mothering-disruption framework, our study examines the illness narratives of women cancer survivors living in Southern Central Appalachia. We collected the stories of twenty-nine women cancer survivors from northeast Tennessee and southwest Virginia using a multi-phasic qualitative design. Phase I consisted of women cancer survivors participating in a day-long story circle (n=26). Phase II consisted of women cancer survivors who were unable to attend the story circle ; this sample sub-set participated in in-depth interviews (n=3) designed to capture their illness narratives. Participants\u27 illness narratives revealed the presence of: (1) mothering-disruption whereby cancer adversely impacted the mothering role ; and (2) mothering-connection , whereby the cancer experience motivatedmother-survivors. Participants\u27 illness narratives reflected thatthe role of mother was the preeminent role for mother-survivor and whenever there was oppositional tension between the roles of mother and survivor , the women-survivors seemed to linguistically relocate away from the survivor role and toward the mothering role. As a result , women-survivors seemingly rejected medicalization of their identities by emphasizing their mothering responsibilities , something we term motherizing

Understanding the Challenges of Reducing Cancer in Appalachia: Addressing a Place-Based Health Disparity Population

The Appalachian region of the United States has long been recognized for its poor economic and social indicators. Only during the past decade have multi-state data become more accessible to describe the regions’ poor health status and resulting outcomes. A recent community-based participatory study engaged rural Appalachians to describe “what makes Appalachia different?” from other geographic areas and cultural groups in the United States and identify those characteristics that influence the region’s health. This article summarizes the community interpretation of these findings

Genetic Information-Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes

Inherited bone marrow failure syndromes (IBMFS) including Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome are rare genetic disorders characterized by hematologic complications and increased risk of cancer. Patients and their families likely experience obstacles in obtaining sufficient health information given their disorders’ rarity. To investigate this possibility, we examined information-seeking behaviors and levels of general and disorder-specific genetic knowledge among 315 members of 174 families with an IBMFS, and how information-seeking behaviors and socio-demographic factors may be associated with their genetic knowledge. Cross-sectional survey data indicated that participants were most likely to have ever used the Internet or healthcare providers for genetic information. On average, participants correctly answered 57% of items assessing general genetic knowledge and 49–59% of disorder-specific knowledge items. Greater knowledge was associated with greater education and ever experiencing genetic counseling, attending a scientific meeting, and seeking information from the Internet and scientific literature. Among families with Fanconi anemia (whose family support organization has the longest history of providing information), greater disorder-specific genetic knowledge was also associated with seeking information from support groups and other affected families. Results suggest that families with IBMFS have uncertainty regarding genetic aspects of their disorder, and highlight potential channels for delivering educational resourcesKeywords: Information seeking, Dyskeratosis congenita, Shwachman-Diamond syndrome, Diamond-Blackfan anemia, Genetic literacy, Genetic counseling, Inherited bone marrow failure syndromes, Fanconi anemi

Experiences of Siblings of Patients With Fanconi Anemia

Background. Clinical management of families with autosomal recessive genetic disorders focuses almost exclusively on the affected family members. However, clinically unaffected members of such families may also be severely troubled by the serious illness in a family member. The purpose of this study was to explore the experiences of healthy siblings of patients with a chronic genetic disease, Fanconi Anemia (FA). Procedure. We used a qualitative, descriptive design, which consisted of in-depth, semi-structured interviews. A convenience sample of nine siblings of patients with FA was recruited from a National Cancer Institute clinical research protocol, which targets families with inherited bone marrow failure syndromes. NVivo 2.0 software facilitated qualitative content analysis of the data. Results. Siblings\u27 rich descriptions provided novel insights into the intricate hardships of living within a family in which a rare, life-threatening, chronic genetic illness in one member is the focus of daily life. Four major themes of the sibling experience emerged from the interview data: (1) containment, (2) invisibility, (3) worry, and (4) despair. Conclusions. Our data suggest that unrecognized psychosocial issues exist for the apparently healthy siblings of patients with FA. This study explores the psychosocial consequences of living in a family with FA and one of only a few studies to explore the sibling experience of chronic illness using a contemporaneous approach. These findings support the need for an increased awareness among health care providers; future hypothesis driven investigation, and improved assessment of problems with potential psychological morbidity