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Psychosocial Effects of Cancer Predisposition Syndromes

Photograph of Rowan, Emily, and Camella Rising

Pictured (left to right): Rowan Forbes Shepherd, Allison Werner-Lin, Sadie Pauline Hutson, Camella Rising

Overview

A multidisciplinary team of experts in the Clinical Genetics Branch (CGB) conducts translational research to improve the psychosocial well-being and biobehavioral outcomes of individuals, families, and communities at elevated risk of cancer.  This work is conducted within the context of CGB's longstanding natural history studies in hereditary cancer.

Study Team

Leadership

Photograph of a team of individuals standing with one man seated

Front row from left: Joseph F. Fraumeni, Jr., Payal Khincha; Middle: Mone’t Thompson, Megan Frone, Allison Werner-Lin, Renee Bremer; Back row: Ashley Thompson, Jessica Hatton, Camella Rising, Rowan Forbes Shepherd

 

Current Fellows in CGB

Former Fellows

  • Pat Boyd 
  • Alix Sleight 
  • Jenni Young 
  • Ashley Thompson 
  • Catherine Wilsnack 
  • Chloe Huelsnitz 

Collaborators

If you are interested in learning more about our work or joining our team, please contact Sadie Hutson.

Background & Purpose

Browse Publications from the Study Team

View NCBI Collection

Individuals at high risk of cancer have unique psychological and social needs. Investigators studying the psychosocial effects of cancer predisposition syndromes are committed to performing studies to better define the behavioral and psychosocial needs of these individuals and to facilitate effective communication and decision-making to reduce patient morbidity/mortality and enhance their overall well-being.

Projects in Families with Li-Fraumeni Syndrome (LFS)

Active Studies 

Except where noted, participants in these studies are enrolled in the Li-Fraumeni Syndrome Study. 

Adolescents and Young Adults with Li-Fraumeni Syndrome (AYA-LFS) Study 

The AYA-LFS study uses a longitudinal, mixed-methods design to study experiences of living with Li-Fraumeni Syndrome (LFS) during the adolescent and young adult years (ages 15-39). This period of the lifespan is characterized by formative phases of physical, cognitive, emotional, and social development. The purpose of the AYA-LFS study is to explore how these developmental phases intersect with experiences of living with high, hereditary cancer risk and how the phases may change over time. Our work strives to identify avenues for improving clinical care for AYAs with LFS by being person-centered and attuned to experiences across various aspects of personal and social life. To date, we have identified a range of LFS-related stressors that impinge on normative AYA development, including forming health behaviors (e.g., cancer screening, physical activity, and dietary intake), activities of daily living, mental health and coping, relating to the body, partner and family communication, reproductive planning, identity formation, and experiences engaging in healthcare systems. Recruitment and analysis for this study are ongoing. 

For more information, please contact Payal Khincha. 

Screening-associated Distress (‘Scanxiety’) Study 

Emotional distress associated with cancer diagnostic testing, known colloquially as “scanxiety,” is an increasingly acknowledged form of suffering among cancer survivors and individuals who undergo repeated screening or surveillance testing for cancer. Individuals with LFS may be especially susceptible to scanxiety, given the intensive, potentially life-long screening they undergo to manage their elevated cancer risk. This research used quantitative methods to explore the extent, nature, patterns and mechanisms of scanxiety among individuals with LFS, and the strategies they use to cope with it. A specific focus of this work is to understand the role of diagnostic uncertainty in both the development and management of scanxiety. The goal of this research is to enable the future development of strategies to mitigate scanxiety for persons and families with LFS. 

For more information, please contact Rowan Forbes Shepherd. 

Li-Fraumeni Syndrome Family Study 

The Li-Fraumeni Syndrome Family Study was designed as a longitudinal, qualitative evaluation of family groups. The study aimed to observe and study family dynamics and relational processes related to living with inherited cancer predisposition. Families visiting the NIH Clinical Center for screening met with a licensed mental health provider to complete a family group interview at each annual visit. Family groups ranged in composition, and included multigenerational groups, sibling groups, and couple pairs. Analysis has focused on experiences of couple communication, family systems roles, grief and loss, embodiment, and sibling dynamics. Though analysis is ongoing, this study is no longer recruiting.  

For more information, please contact Payal Khincha. 

Studies in Development 

A Patient-Centered Pilot Intervention Study to Improve Biopsychosocial and Behavioral Outcomes Among Adolescents and Young Adults with Li-Fraumeni Syndrome 

Adolescents and young adults with LFS (AYAs) often experience high levels of distress and complex and dynamic health burdens yet there are no interventions that address the distinct unmet psychosocial needs of this population. Our goal is to conduct a multi-method pilot study that engages AYAs, family caregivers/care partners, and health care providers of AYAs in the research process to identify intervention targets and components with strong potential to reduce distress and improve psychological well-being among AYAs. Data from this study will lay the foundation for future development of a targeted brief digital psychological intervention to address a significant gap in clinical care.  

This study is not yet enrolling.  

For more information, please contact Camella Rising.  

Psychosocial and Behavioral Assessment in the LFS Metformin Trial 

Past studies of cancer survivors on metformin suggest the critical importance of investigating potential interactions among diet quality, level of physical activity, and metformin to increase cancer-free survival. A Phase II trial is currently in development to determine if individuals with germline pathogenic or likely pathogenic TP53 variants taking metformin have improved 5-year cancer-free survival (CFS) compared with those not taking metformin, with all participants receiving cancer screening. Given the current lack of evidence and potential for improved CFS, our team will collect automated 24-hour recalls of dietary intake and physical activity. In addition, our team will expand and build upon ongoing work in screening-associated distress (“scanxiety”) in the context of the clinical trial. Multiple repeated measures of psychosocial and behavioral health will be ascertained, including a newly validated bodily threat monitoring instrument, which will enable investigation of relationships among multiple factors (e.g., health behaviors, scanxiety, bodily threat monitoring) that affect overall mental health and well-being.  

This study is not yet enrolling.  

For more information, please contact Payal Khincha. 

Projects in Families with Dyskeratosis Congenita and Telomere Biology Disorders

Telomere Biology Disorders, Fanconi Anemia, and Inherited Bone Marrow Failure Studies

Active Studies 

Fanconi Anemia Cancer Screening Study: Screening-related Anxiety (“Screenxiety”) and Medical Uncertainty in Fanconi Anemia

The “screenxiety” and medical uncertainty in Fanconi anemia (FA) study is a sub-study under the Fanconi Anemia Cancer Screening Study in which participants come to the NIH Clinical Center for annual and semi-annual cancer screenings across a variety of medical disciplines. “Screenxiety” refers to experiences of anxiety before, during, or after cancer screening and can emerge due to concerns about cancer diagnosis and/or the screening test procedure. The sub-study aims to understand the experience of screening-related anxiety and the communication of medical uncertainty in clinical encounters. This mixed methods study includes a combination of clinic-based survey and ethnographic approaches, complemented by thematic and content analysis of FA patient stories on social media podcasts. 

Participants in this study are enrolled in the Fanconi Anemia Cancer Screening Study. 

For more information, please contact Emily Pearce.

Completed Studies 

Needs Assessment for Individuals and Families Affected by Dyskeratosis Congenita (DC) and Related Telomere Biology Disorders (TBD) 

Our psychosocial team worked alongside the patient advocacy group, Team Telomere, Inc., to develop the first psychosocial needs assessment for individuals and families affected by Dyskeratosis Congenita (DC) and Telomere Biology Disorders (TBDs). Using online survey methodology and in-depth qualitative interviews, the purpose of this concurrent mixed methods study was to conduct a needs assessment about the informational, pragmatic, and psychosocial challenges and unmet needs of this population. Specifically, this study assesses for needs related to a variety of domains like emotional, physical, and social health, accessibility of resources, experiences with healthcare systems, and medical uncertainty around health and mortality. Results from this study will be used to improve clinical care guidelines for this underrepresented population.  

This study is not currently enrolling. 

The Experience and Management of Medical Uncertainty in Telomere Biology Disorders 

The medical uncertainty experience and management study used data from the DC Needs Assessment to understand the dynamics of medical uncertainty in TBDs. To inform future online intervention science in this area of study, we also investigated the motivations, perceived benefits, and barriers for social media use and how well existing resources are addressing the burden of medical uncertainty in this community.  

This study is not currently enrolling. 

For more information, please contact Emily Pearce. 

Social Media Study of Medical Uncertainty in Telomere Biology Disorders 

The social media study analyzed posts collected from the Facebook and Twitter accounts of Team Telomere, a TBD patient advocacy organization, to understand how patients with DC/TBDs and their families use virtual community to express and manage medical uncertainty.  

This study is not currently enrolling. 

For more information, please contact Emily Pearce. 

Projects on Human Papillomavirus-associated Cervical Cancer

Active Studies 

Stakeholder Knowledge and Attitudes Regarding Cervical Cancer Prevention and Screening Interventions in the HPV-Automated Visual Evaluation (PAVE) Study 

The PAVE Study is a multi-national study that aims to optimize and evaluate a novel cervical cancer prevention and screening intervention—which utilizes sensitive HPV testing of self-collected cervical specimens, deep-learning-based automated visual evaluation of visual cervical images, and risk-based triage and treatment—among women in 10 different resource-limited low and middle-income countries (LMICs). To prepare for broader dissemination and implementation of this novel intervention, the Communication and Retention Workgroup is conducting a mixed-methods pilot study utilizing both qualitative interviews and surveys administered to key stakeholders—patients, healthcare providers, and scientific experts—at four participating sites (Brazil, El Salvador, Nigeria, Tanzania). The specific objectives of this pilot study are to explore stakeholders’ knowledge and attitudes regarding cervical cancer prevention and screening, and their preferences for information and participation in decision making. The study will generate evidence to enable the future development of effective, ethical strategies for the broader dissemination and implementation of the PAVE interventions in LMIC settings.   

For more information, please contact Paul Han. 

Uncertainty in Cervical Cancer Screening: Aging and Implications for Shared Decision-Making in Low-Resource Settings 

Squamocolumnar junction (SCJ) visibility is crucial for diagnosing and managing cervical precancer and cancerous lesions. However, SCJ visibility decreases with age, particularly from 39 years onward, leading to potential underdiagnosis and missed treatment opportunities. This issue creates uncertainty in cervical screening decisions, especially in low-resource settings where diagnostic tools are limited. To address this, the PAVE sub-study includes three parts: the first examines the relationship between aging and SCJ visibility in women aged 39-49 screened for precancer/cervical lesions; the second explores challenges in implementing shared decision-making (SDM), enablers, and optimal models from the PAVE scientific experts' perspectives; and the third investigates the views of women aged 39-49 years in Ikire, Nigeria, on cervical screening uncertainties and SDM, as well as their preferences in involving older women and community members in their cervical screening decisions. 

For more information, please contact Abigail Ukwuani.   

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