Pediatric cancer families’ participation in whole-genome sequencing research in Denmark: Parent perspectives

Abstract

With an impending introduction of genome sequencing into paediatric oncology to facilitate personalised medicine, this study examines parent perspectives on participating in whole genome sequencing (WGS) research in the difficult weeks following diagnosis. As an embedded part of Sequencing Tumor and Germline DNA-Implications and National Guidelines (STAGING), a project aiming to implement WGS of all newly diagnosed paediatric cancer patients in Denmark, a parent perspective study was conducted by a clinical geneticist and anthropologist to document pragmatic, social and ethical dilemmas. Following genetic counselling, systematic debriefings were held and the anthropologist carried out in-depth parent interviews (N = 30 parents to 15 patients). Parents were approached about STAGING 2-28 days after diagnosis. The majority of interviewed parents reported that an early approach had been feasible for them, a few found it too early. Participation was explained in terms of altruism and a desire to learn more about why their child had developed cancer. A number of parents openly disagreed about the amount of information they wanted reported back. Enrolment in WGS research around the time of diagnosis is feasible, however, flexibility from researchers is essential. Notwithstanding high participation rates and a tendency to choose full disclosure, caution as regards the consequences of participating in WGS research is warranted.

Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel

“…This is doable with counselling provided by doctors or genetic counselors who have specialized within this field. We have recently shown that parents overall are keen to participate in genetic research of children with cancer [27], and that most agree to have findings in cancer genes reported back to them.…”

Return of individual research results from genomic research: A systematic review of stakeholder perspectives

“…High levels of interest in learning about results were also expressed by participants making actual decisions about whether they wanted to receive results [ 1 , 2 , 12 ]. Several studies observed that return of results was a key reason for research participation [ 2 , 4 , 69 , 70 ] and a survey exploring participation across several Clinical Sequencing Exploratory Research (CSER) consortium sites showed that only 5% who declined did so because they did not want research results returned [ 71 ].…”

Medulloblastoma, macrocephaly, and a pathogenic germline PTEN variant: Cause or coincidence?

“…Notably, remission was reached with current medulloblastoma treatment protocols despite the PTEN status. As certain countries are beginning to provide whole‐genome sequencing for all newly diagnosed pediatric cancer patients (Byrjalsen et al., 2018), coincidental germline variants may confound the search for true genetic predisposition in pediatric cancer. We therefore suggest that the genetic testing of young patients with medulloblastoma should include the PTEN gene in addition to the APC , BRCA2 , PALB2 , PTCH1 , SUFU and TP53 genes with well‐defined associations to medulloblastoma to characterize the role of PTEN in the development of medulloblastoma.…”