Barriers and Facilitators of Cancer Surveillance in Children, Adolescents, and Young Adults at High Risk for Cancer because of Genetic Predisposition
Introduction
There are now over fifty cancer predisposition syndromes known to increase risk of childhood cancer. In 2017, consensus guidelines for surveillance, consisting of periodic imaging, laboratory tests, and clinical exams, were published by the American Association of Cancer Research (AACR) Working Group in Cancer Predisposition for these syndromes. Such surveillance often requires a lifetime of medical tests and procedures.
However, little is known about barriers and facilitators to attendance at pediatric cancer predisposition clinics. Genomic medicine overall has historically been lacking in diversity and inclusivity and there is a need to increase the reach of genomics to minority populations. Perhaps even more there is a need to enable inclusivity in the translation of genetic advances to subsequent interventions to reduce associated risks. Multiple studies have reported that knowledge, perceptions, and attitudes toward genetic testing and surveillance differ in racial and ethnic minorities compared to white non-Hispanic individuals. This is highly relevant to our catchment area, which is ~65-70% Hispanic and over 90% Hispanic in the border regions. We hypothesize that successful adherence to screening for cancer in high-risk children will be influenced by four domains: 1) social determinants of health, including geographic location, financial status, language, education level, health literacy, and race/ethnicity; 2) parental knowledge and understanding of genetic risks and potential benefits of intervention; 3) psychological or emotional distress, including health-related anxiety; and 4) healthcare system resources.
This multi-institutional study based in the South and West Texas regions engages a multidisciplinary team of pediatric cancer experts who provide care for children who are genetically at high risk, including physicians, genetic counselors, social workers, and psychologists. The long-term intent of this project is to promote and facilitate use of recommended cancer screening guidelines in children, adolescents, and young adults who have a cancer predisposition syndrome and thus enhance early detection despite certain barriers which are found to limit appropriate surveillance. Our aims include: 1) to determine barriers and facilitators of cancer screening in children at high risk, 2) to develop and test interventions to address barriers, and 3) to engage and provide education to healthcare providers and leadership to effect system-level changes that enhance recognition of children who need cancer surveillance and early detection in high-risk children. We will present here preliminary data regarding parental knowledge of genetic testing and surveillance, logistic issues in receiving surveillance, and psychosocial stressors surrounding genetic cancer predisposition and surveillance.
Methods
Basic demographic information and clinical information about the child’s genetic predisposition diagnosis, cancer diagnosis (if applicable), and family history were collected through chart review to identify candidates for study. Validated measures were used in addition to open-ended questions to assess parental psychological distress. All patients had been diagnosed with a cancer predisposition syndrome, either through genetic testing or diagnostic clinical criteria and family history. All had undergone at least one interval of recommended surveillance at the time of diagnosis and consent was obtained from parent (or patient if 18 years of age or older) at the time of a surveillance visit. The National Comprehensive Cancer Network (NCCN) Distress Thermometer was used to identify stress factors, emotional issues, and spiritual/religious concerns that may influence pattern of care sought. The Illness Attitude Scale was used to identify aspects of fear and anxiety regarding present and future health issues. The Cancer Worry Scale, as adapted for children, was used to assess unmet health-related social needs and degree of fear associated with cancer occurrence or recurrence. Assessment of parental knowledge was conducted using a set of statements designed by study team which are answered with “Agree” or ‘Disagree” and reflect general knowledge, such as “A screening test for signs of cancer is done so if a cancer is starting to develop it can be found early and more likely be cured.” Additional statements were answered on a Likert 1 to 5 scale from “Strongly Disagree to “Strongly Agree” and reflected parental willingness or ability to undertake cancer screening tests, such as “Genetic testing and cancer screening will not change my child’s health,” and “It is difficult for me to come to appointments for cancer screening tests.”
Results
Data from this study derives from three recruitment sites: University Hospital affiliated with UT Health San Antonio, CHRISTUS Children’s affiliated with Baylor College of Medicine, and El Paso Children’s Hospital affiliated with Texas Tech Health Science Center San Antonio. Since the start of enrollment in October 2022, 44 families with at least one a child with a documented predisposition have been enrolled across these three sites. Of these, 29 (66%) identify as Hispanic, consistent with our overall catchment area. Slightly over half of patients indicated Medicaid as primary source of health coverage. Of 36 parents who had completed psychosocial measures, 27 (75%) reported moderate or severe levels of distress.
The underlying cancer predisposition diagnoses for the children included: 11 (25%) with Neurofibromatosis Type, 7 (16%) with Li-Fraumeni syndrome, 3 (7%) with PTEN hamartoma tumor syndrome, 3 (7%) with Beckwith-Wiedemann, and 2 (5%) with von Hippel Lindau Disease. Other syndromes for which we currently have enrolled 1 patient each include: DICER1, Hereditary enchondroma, Hemihyperplasia, Familial Adenomatous Polyposis, Multiple Endocrine Neoplasia Type 1, Tuberous Sclerosis Complex, 2q37 deletion syndrome, and Diamond Blackfan Anemia.
Recruitment is on-going and data will be updated at time of presentation.
Conclusion
Assessment of parental knowledge, attitudes, and psychosocial stressors surrounding genetic cancer predisposition and surveillance is an important first step in determining barriers and facilitators of genetic testing and cancer screening in children at genetically increased risk. We have developed a comprehensive set of surveys to efficiently gather this information to target areas of greatest unmet need and develop interventions to address these barriers. Preliminary data suggest that our pediatric cancer predisposition clinics serve a predominantly Hispanic population of which half or more are insured by Medicaid, which is consistent with the demographics of the South Texas region. These preliminary data also suggest that many parents experience distress related to their child’s diagnosis of genetic predisposition to cancer with three-quarters of parents reporting moderate to extreme distress. Additionally, preliminary data suggest that most parents understand their child’s diagnosis of cancer predisposition and need for surveillance, but gaps were identified, which could reflect the importance of continuing genetic counseling and education at subsequent visits to reinforce understanding. An important next step of this project will be to determine and implement interventions wherever possible which could alleviate barriers, and also to address mental health associated findings in families with cancer predisposition in children.