Pam Harrison

October 27, 2016

VANCOUVER, British Columbia — Giving parents information obtained from whole exome sequencing of their child's tumor is largely appreciated and is not ethically disruptive as some have postulated in the past, new research shows.

"When we started doing this 4 years ago, we were not sure how parents would react, because there's always been a lot of ethical concerns that we would increase anxiety in parents by giving them this information rather than help them," Janet Malek, PhD, associate professor of medicine and medical ethics, Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas, told Medscape Medical News.

"But because these are parents who've already gone through a really traumatic event, namely having their child diagnosed with cancer, what we found is that they actually didn't report feeling much anxiety or stress about [genomic information]. Even in the preinterview before they got their results back, they were just happy to get their hands on anything, essentially," she added.

"I'm not sure that the mere fact that parents find value in this information justifies more widespread use of this technology, but I think it's really important to keep this broader perspective in mind when we are making decisions about recommendations."

The study was presented here at the American Society of Human Genetics 2016 Annual Meeting.

BASIC3 Study

The Baylor Advancing Sequencing into Childhood Cancer Care (BASIC3) study is a clinical sequencing project designed to evaluate the effect of integrating information from germline and tumor whole exome sequencing into the care of pediatric patients with newly diagnosed cancer.

Dr Malek and colleagues carried out semi-structured interviews with parents of children who had been diagnosed with brain or other types of solid tumors at three time points: before the whole exome sequencing results were known (64 interviews), 1 to 8 months after results were known (33 interviews), and around 1 year after disclosure (25 interviews).

All parents received a germline report that described the genomes of their child and both parents, including information on genes associated with cancer, genes associated with other diseases the child might have, and other findings.

When tumor tissue was available, families also received a tumor report describing the genetics of the tumor.

More than 90% of parents also chose to receive information about carrier status for other diseases not related to the child's cancer.

"Parents identified a broad range of ways in which they found or expected to find their child's WES [whole exome sequencing] results valuable," Dr Malek and colleagues report.

Psychological, Pragmatic Benefits

For example, many parents cited psychological benefits to having the information, not just on behalf of their child but on behalf of themselves.

When parents found out that they had not passed a gene on to their child that had caused their cancer, "they reported a lot of relief that it hadn't come from them," Dr Malek said.

"And especially in the preinterview, parents were looking for information that would make them feel confident that they hadn't done anything wrong."

Parents also reported that the sequencing information had pragmatic benefits that would help them and their child plan for the future.

Children with a genetic risk for cancer, for example, would be better able to make important reproductive decisions down the line.

Occasionally, sequencing results prompted siblings and other family members to undergo genetic testing themselves to assess their own risk for cancer or other genetic diseases.

Children who were identified as carriers of diseases unrelated to cancer could similarly plan for future reproductive intentions and make sure any future partner was not a carrier of the same gene before going ahead with a family.

I was surprised by how positive the parents were about sequencing, even if the results did not affect any medical decisions. Dr Janet Malek

"Throughout the process, I was surprised by how positive the parents were about sequencing, even if the results did not affect any medical decisions," Dr Malek said in a statement.

"Our findings raise questions about the assumptions we make by prioritizing clinical actionability when deciding whether to disclose genetic information or not."

Asked by Medscape Medical News to comment on the study, session co-chair, Wendy Chung, MD, PhD, associate professor of pediatrics and medicine, Columbia University, New York City, felt that the study was important because it shows that "parents of children with cancer appreciated having the results of genomic testing, largely because results reassured them that it wasn't their fault," she said in an email.

"It also reassured them that other family members weren't at high risk for hereditary cancer syndromes," Dr Chung added.

A recent study in Pediatric Blood Cancer (2016;63:511-515) similarly found that the introduction of genome sequencing information into childhood cancer care was not ethically disruptive and that parents expected any genomic information they received to better prepare them to participate in decisions regarding their child's care.

Neither Dr Malek nor Dr Chung has disclosed any relevant financial relationships.

American Society of Human Genetics (ASHG) 2016 Annual Meeting. Abstract PgmNr134. Presented October 20, 2016.

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