Parental Perspectives and Experiences with Genetic Testing and Surveillance for Cancer Predisposition in Healthy
Kayla V Hamilton1, Brett Nava-Coulter2, Anna Revette2
1Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA.
Insights
Parents of children diagnosed with cancer predisposition syndromes (CPS) find diagnosis challenging but are empowered by surveillance. Most parents support genomic newborn screening (gNBS) for early cancer risk identification.
Area of Science:
- Genetics
- Pediatric Oncology
- Genomic Medicine
Background:
- Cancer predisposition syndromes (CPS) are inherited conditions increasing cancer risk.
- Early diagnosis and surveillance are crucial for managing pediatric CPS.
- Parental experiences and perspectives on genomic screening are vital for implementation.
Purpose of the Study:
- To explore parental experiences after a child's CPS diagnosis.
- To assess parental views on population-based genomic newborn screening (gNBS) for CPS.
Main Methods:
- Qualitative study involving 25 parents of children diagnosed with CPS by age 8.
- Semi-structured interviews, demographic surveys, and genetic knowledge assessments were used.
- Thematic analysis of interview transcripts and clinical data abstraction.
Main Results:
- Parents found CPS diagnosis emotionally challenging but empowering due to proactive surveillance.
- Logistical, emotional, physical, and financial burdens of surveillance were identified.
- Most parents perceived benefits outweighed burdens and supported gNBS for pediatric cancer risk.
Conclusions:
- Parents of children with CPS experience distress and benefits from genetic diagnosis and surveillance.
- Despite surveillance burdens, parents support early genomic identification of cancer risk.
- Findings inform pediatric CPS care and the implementation of population-based gNBS.
Objectives:
To evaluate parental experiences following diagnosis of a cancer predisposition syndrome (CPS) in childhood and to assess parental perspectives on population-based genomic newborn screening (gNBS) for CPS.
Study Design:
Participants were guardians of children diagnosed with a CPS by age 8, for whom cancer surveillance was recommended, and who had no history of cancer before the CPS diagnosis. Participants completed a demographic survey, genetic knowledge assessment, and a semistructured qualitative interview. Thematic analysis was performed on interview transcripts. Clinical data were abstracted from medical records.
Results:
We enrolled 25 parents of children with 7 different CPS, including Li-Fraumeni syndrome (43%), familial adenomatous polyposis (14%), nevoid basal cell carcinoma syndrome (11%), and Beckwith-Wiedemann syndrome (11%). Parents characterized receiving a CPS diagnosis as emotionally challenging but also felt empowered by engagement in proactive cancer surveillance. They identified logistical, emotional, physical, and financial burdens of surveillance; however, most perceived that these burdens were outweighed by the medical and emotional advantages. The majority endorsed implementation of gNBS for pediatric cancer risk.
Conclusions:
Parents of presymptomatic children with a CPS experience both psychological distress and benefits following a genetic diagnosis. Despite the burdens of surveillance, parents express support for early genomic identification of cancer risk. These findings have implications for the care of children with CPS and inform implementation of population-based gNBS for CPS.
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