New paper - Families’ perspectives, experiences, and preferences for germline testing in childhood cancer

This paper was published in the Genetics in Medicine. Click here to access the full article. 

Background
In the ever-evolving landscape of childhood cancer care, germline testing is emerging as a pivotal component that offers both opportunities and challenges. Our latest paper delves into the nuanced perspectives, experiences, and preferences of families navigating this complex journey, shedding light on how to best integrate germline testing into routine care.
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Germline testing in childhood cancer involves analysing DNA to identify heritable changes in genes that can predispose children to cancer. This testing not only aids in understanding potential causes of a child’s cancer, but can also have implications for treatment, cancer prevention, reproductive planning and further testing in other at-risk family members. However, the decision to undergo germline testing is far from straightforward for families already grappling with a cancer diagnosis.

Methods
We conducted a systematic review of the literature, focussing was on capturing studies exploring parent/caregiver, and childhood cancer patient perspectives, experiences or preferences related to germline testing of children with cancer. Following PRISMA guidelines, we searched four databases and identified 24 relevant studies out of 2286 articles.

Key Findings

1. High Interest and Uptake: We found a strong interest in germline testing among families, with high rates of uptake in non-hypothetical studies.  
2. Motivations: Families are driven to participate primarily by altruism and the desire to gain insights into inheritance and causation. This highlights a proactive approach where families are keen to contribute to broader scientific knowledge while also seeking answers for their own concerns.
3. Barriers to Testing: Despite the interest, several barriers emerged. Psychological concerns were common, with families grappling with the emotional weight of potential results. The timing of the testing also posed a challenge, particularly if offered at the time of cancer diagnosis or in a high-risk cancer setting. Privacy and potential discrimination were also described.
4. Experiences: The experiences of those who underwent testing were mixed. While some families faced psychological challenges, many reported positive impacts. Receiving test results often provided psychological relief and facilitated proactive decision-making.
5. Timing Preferences: While some families appreciated germline testing upfront at diagnosis, others found an early approach overwhelming preferring to have time to adjust to the new diagnosis before considering germline testing, suggesting a need for flexibility.
6. Desire for Comprehensive Results: Most families expressed a desire to receive as many germline sequencing-related results as possible, including secondary, uncertain and incidental findings.  

Conclusions
Findings provide crucial insights to guide the delivery of expanded germline testing in routine clinical care. Given experiences and preferences varied, patience and flexibility from researchers and clinical staff is paramount. Consent and result delivery should be dynamic and flexible processes, adapted to each family’s rapidly changing circumstances. Ongoing access to information and support that meets their needs, preferences, and clinical context is essential.
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Access the full text here!