Psychosocial Effects of Cancer Predisposition Syndromes
The Clinical Genetics Branch investigates and defines best practices of medical, psychosocial, and genetic counseling, as well as risk assessment and communication, to counsel and care for at-risk individuals and families.
Background & Purpose
Individuals at high risk of cancer have unique psychological and social needs. Investigators in the Clinical Genetics Branch (CGB) 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. While this work currently focuses on Li-Fraumeni syndrome and Telomere Biology Disorders, it is applicable to many other cancer-prone disorders.
- Payal Khincha, M.B.B.S., M.S.H.S., clinical investigator, Clinical Genetics Branch (CGB)
- Sharon Savage, M.D., senior investigator and Director, CGB
- Allison Werner-Lin, Ph.D., A.M., Ed.M., L.C.S.W., senior advisor, CGB
- Sadie Pauline Hutson, Ph.D., R.N., F.A.A.N.
- Paul Han, M.D., M.A., M.P.H., senior scientist, Division of Cancer Control and Population Sciences (DCCPS)
Research Studies with Psychosocial Focus
Below are the DCEG clinical studies on psychosocial effects organized by research approach.
LFS Family Interview Study
The LFS Family Interview Study, led by a licensed mental health provider, investigated the impact of shared cancer risk on family processes regarding adaptation and coping, relationship dynamics, and cancer risk management. The team conducted interviews with family groups on their visits to the NIH Clinical Center. Family groups ranged in composition and included multigenerational family 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.
Adolescents and Young Adults with Li-Fraumeni Syndrome (AYA-LFS)
The AYA-LFS study uses a longitudinal, nested mixed-methods design to investigate experiences of living with LFS during the adolescent and young adult years (16-39). This period of the life cycle is composed of several stages of cognitive, relational, social, and professional development.
The purpose of this study is to evaluate the ways in which these developmental tasks intersect with the experiences of living with genetic cancer risk. We are also studying the ways AYA-LFS development changes over time. The COVID-19 pandemic began between wave one and wave two of data collection, presenting a unique opportunity to evaluate the impact of the pandemic on a population with rare genetic diseases. Other analyses from this study focus on health behaviors (including exercise and nutrition), mental health, partner and family communication, reproductive planning, identity formation, and experiences with providers.
Recruitment and analysis for this study are ongoing.
For more information, please contact Rowan Forbes Shepherd, Ph.D.
“Scanxiety" Among Persons with LFS
Emotional distress associated with cancer diagnostic testing, known colloquially as “scanxiety,” is an increasingly acknowledged form of distress among cancer survivors and other individuals who undergo repeated screening or surveillance testing for cancer. Persons with LFS may be especially susceptible to scanxiety, given the high-intensity screening they undergo to manage their elevated cancer risk.
This research uses qualitative and quantitative methods to explore the extent, nature, and mechanisms of scanxiety among persons with LFS, and the strategies they use to cope with such distress. A specific focus of this work is to understand the role of diagnostic uncertainty in both the development and management of scanxiety. The ultimate goal of this research is to enable the future development of interventions that can mitigate scanxiety for persons with LFS.
For more information, please contact Paul Han, M.D.
Telomere Biology Disorders Studies
CGB studies of telomere biology disorders are nested within the Inherited Bone Marrow Failure Syndromes (IBMFS) Study.
Individuals with dyskeratosis congenita (DC) and related telomere biology disorders (TBDs) are at high risk of bone marrow failure, pulmonary fibrosis, certain cancers, and many other medical complications. There are multiple modes of inheritance and at least 18 different genes associated with TBDs.
Telomere Biology Disorders Needs Assessment Study
The CGB psychosocial team has worked alongside the patient advocacy group, Team Telomere, Inc., to develop the first psychosocial needs assessment for individuals and families affected by DC and related TBDs. Using online survey methodology and in-depth qualitative interviews, the purpose of this concurrent mixed methods study is 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.
For more information, contact Sharon Savage.
Social Media as a Tool for the Expression and Management of Medical Uncertainty in Telomere Biology Disorders
This study involves analyzing social media collected from the Facebook and Twitter accounts of Team Telomere, Inc., to understand how patients with TBDs and their families currently use virtual communities to express and manage medical uncertainty. We are also using data from the DC Needs Assessment, semi-structured telephone interviews with patients with TBDs and their caregivers, to understand 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 research will help inform future efforts to develop social media and online resources for patients with TBDs and their caregivers, who are often geographically dispersed and may be well served by virtual support.
For more information, contact Emily Pearce.
Key Findings & Select Publications
- Hereditary cancer syndromes are felt across family systems due to shared lifelong cancer risk, recommendations for syndrome-specific risk management, and anticipatory loss and bereavement.
- Developmental trajectories intersect with cancer risk management to shape risk perceptions, health behaviors, survivorship considerations, and family life choices in the adolescent and young adult years.
- Risk management strategies provide opportunities for mitigating lifelong, elevated cancer risk while simultaneously presenting psychosocial challenges in social and family groups.
- Communication in couples, families, and social groups plays a critical role in how families adjust to and manage individual and shared cancer risk.
- Rising CJ, Wilsnack C, Boyd P, Sleight AG, Hutson SP, Khincha, PP, & Werner-Lin, A. Family communication challenges of adolescents and young adults with Li-Fraumeni syndrome: Implications for psychosocial care. Patient Education and Counseling. 2022
- Werner-Lin A, Shepherd RF, Young JL, Wilsnack C, Merrill SL, Greene MH, & Khincha PP. Embodied risk for families with Li-Fraumeni syndrome: Like electricity through my body. Social Science & Medicine. 2022
- Wilsnack C, Young JL, Groner V, Merrill S, Greene MH, Khincha PP, & Werner-Lin A. Family identity and role function in the context of Li-Fraumeni Syndrome: “No one’s like us mutants”. Health and Social Work. 2021
- Young JL, Pantaleao A, Zaspel L, Bayer J, Peters JA, Khincha PP, ... & Werner-Lin, A. Couples coping with screening burden and diagnostic uncertainty in Li-Fraumeni syndrome: Connection versus independence. Journal of Psychosocial Oncology. 2019