In a new paper recently published in the Journal of Clinical Oncology: Precision Oncology, researchers at Baylor College of Medicine and Texas Children’s Hospital report that genomic sequencing information may be more valuable for families of pediatric cancer patients than has previously been recognized.
The paper reports results from the Baylor Advancing Sequencing in Childhood Cancer Care (BASIC3) study led by Baylor’s Dr. Sharon Plon, professor of pediatrics-oncology and molecular and human genetics; Dr. Will Parsons, associate professor of pediatrics-oncology and molecular and human genetics; and Dr. Amy McGuire, director of the Center for Medical Ethics and Health Policy. The BASIC3 study evaluates the impact of incorporating a type of genomic sequencing called whole exome sequencing into the clinical care of children newly diagnosed with cancer being treated at Texas Children’s Cancer Center. This technology can reveal information about the genetics of the child’s tumor as well as identify genes that the patient or parents may have that are associated with cancer, other diseases and conditions that would require immediate clinical action. Most parents also opted to find out if they or their child carry a gene for a disease that they could pass on to future generations. Through this study, investigators sought to understand what parents of newly diagnosed pediatric cancer patients think about receiving this type of information.
The BASIC3 research team interviewed more than 60 parents before and after they received their child’s exome sequencing results. Parents described a wide range of ways in which they found the information valuable for their child, themselves and other family members. As expected, parents hoped that the information would improve their child’s care through cancer treatment tailored to their child’s specific cancer or through appropriate monitoring in the future. However, they also perceived benefit of whole exome sequencing even when it would not change the child’s clinical care.
“Concerns about how children and parents will react to genomic sequencing information as well as respect for the future rights of children to decide whether they want that information have led to a general consensus against disclosing sequencing information that does not have clear clinical utility,” said McGuire, one of the principal investigators of the BASIC3 study. “However, our study showed that parents of children with a serious illness found this information valuable for a wide variety of reasons, which raises questions about whether this consensus is appropriate for this population.”
Parents in the BASIC3 study wanted to know where their child’s cancer had come from and hoped that genomic sequencing would help them understand why this had happened to their family. They described relief from both guilt and worry upon finding that their child’s disease was not caused by a known cancer-related gene. Parents who discovered their child had a genetic risk of cancer expressed that having that knowledge could help the child make their own reproductive decisions. In addition, some parents noted that the exome sequencing results prompted them to have the child’s siblings and other family members receive genetic testing to assess their risk. If no genetic risk of cancer or other diseases was discovered, parents felt reassured of the health of their other children, including any potential children in the future.
“On the whole, parents were remarkably positive about genomic sequencing, even if the results did not change their child’s medical treatment,” said Dr. Janet Malek, first author of the paper and associate professor of medicine and medical ethics at the Center for Medical Ethics and Health Policy. “They found the information valuable for themselves and other family members in a broad range of ways. These results suggest that we need to think carefully about how we understand the risks and benefits of using this technology, when we should recommend its use and how we talk about it with patients and families.”
The results from this interview study improve the understanding of parents’ perspectives of whole exome sequencing. Researchers and clinicians can use parents’ broad range of utility to re-evaluate how risks and benefits should be described and to inform decisions about using whole exome sequencing in clinical care. The Baylor team is planning to continue researching this topic with a new and larger longitudinal survey based-study across multiple sites in Texas that will compare the various benefits and concerns of receiving exome sequencing results. Currently, Malek and colleagues are analyzing what the roles of guilt, regret and parental responsibility have in how parents in the BASIC3 study perceive the value of their child’s whole exome sequencing results.
Other contributors to this work include Dr. Melody Slashinski, Jill Robinson, Amanda Gutierrez, and Dr. Laurence McCullough. Drs. Plon, McGuire and Parsons are also members of the NCI-designated Dan L Duncan Comprehensive Cancer Center at Baylor. The BASIC3 study is a Clinical Sequencing Exploratory Research (CSER) program project supported by Grant No. 1U01HG006485 from the National Human Genome Research Institute, National Cancer Institute.