Skip to main content
Premium Trial:

Request an Annual Quote

Canadian Healthcare Providers, Policymakers Value Different Aspects of Clinical Genomic Sequencing

NEW YORK — There is a divide between what some Canadian healthcare providers and policymakers value from clinical genomic sequencing, a new study has found. When testing is denied, this sometimes leads clinicians to seek genome sequencing for their patients through alternative means than Canada's healthcare system.

According to a team led by researchers at the University of Toronto, genomic sequencing in Canada is typically approved by policymakers when healthcare providers can show that such testing will lead to a diagnosis and inform clinical management.

By conducting interviews with more than two dozen clinicians, the team found that while healthcare providers value those benefits of genomic sequencing, they also appreciated nontraditional benefits such as ending the diagnostic odyssey or connecting patients to community support. As they reported in Genetics in Medicine, the researchers found that some clinicians would pursue other avenues to receive sequencing information for their patients outside of the usual funding approaches.

"We found that although most clinicians prioritized diagnosis and clinical management, similar to decision-makers, clinicians practicing in pediatric and general genetics settings considered and valued additional benefits," Toronto's Yvonne Bombard and colleagues wrote in their paper, adding that "[t]hese benefits typically have not been valued by decision-makers, and this disconnect limited access to [genome sequencing] and led clinicians to seek ways to 'cheat the system' to obtain the test and achieve the additional benefits for their patients."

For their study, Bombard and her colleagues conducted semi-structured interviews of 25 clinicians, a cohort that included geneticists, genetic counselors, oncologists, and others, to examine their views on the clinical utility of genomic sequencing.

In the interviews, the participants noted the typical benefits that were in line with the criteria that decision-makers use to approve funding for genome sequencing.

But the interviewees also discussed other benefits of clinical genomic sequencing, including the psychological importance of ending the diagnostic odyssey and its associated "poking and prodding," as well as familial benefits like implications for current or future pregnancies and cascade testing efforts. They also pointed to benefits like educational and community support, some of which cannot be accessed without a documented diagnosis.

This prioritization of additional benefits of genomic sequencing beyond diagnosis and management is consistent with some previous studies, the researchers noted. They added, though, that these benefits were more highly valued by pediatric and general care providers than by oncologists. They suggested that this could be due to oncologists being less likely to order sequencing outside of diagnosis and management settings, as well as due to recent findings that there is a higher diagnostic utility of sequencing in pediatric populations, between 36 percent and 51 percent, as compared to the field of oncology, where it is between 10 percent and 20 percent.

Still, the researchers found that because of this disconnect between what some clinicians valued from genomic sequencing and what policymakers would fund, some clinicians would turn to other means to receive sequencing data for their patients. For instance, some clinicians would order a less comprehensive gene panel test that would be more likely to be approved, knowing that some commercial labs would offer free follow-up sequencing after a negative panel result, while others would turn to research studies for sequencing.

But this approach, the researchers noted, further fuels inequities in patient care. Instead, they suggested that an expanded view of clinical utility be adopted by decision-makers. "Our findings call for research to gather evidence to quantify the additional benefits of [genomic sequencing] and standardize metrics for measuring them, ensuring more comprehensive evaluations of the clinical utility of [genomic sequencing]," they added.

The Scan

Monkeypox Meeting

As the World Health Organization gets ready to hold another monkeypox meeting, the US distributes vaccines and increases its testing capacity.

CRISPR's Softer Side

A homologous chromosome-templated repair approach to gene editing relies on versions of the Cas9 enzyme that cut a single DNA strand.

Pickled? No Problem

Researchers come up with an approach for extracting DNA from archived museum specimens. 

Nature Papers on Long Reads for Bacterial Genomes, Zebrafish Atlas, Hypothalamic Aging in Mammals

In Nature this week: near-finished microbial genomes without polishing, zebrafish functional annotation program, and more.