‘Tremendously promising technology’
Pathologist Stephen Yip, MD, PhD, of the Vancouver Coastal Health Research Institute, who was not involved in the study but disclosed that he collaborates with the authors on other grant-funded projects, said in a comment that “this is a tremendously promising technology that has immediate practical implications in the investigation of PofO of a pathogenic locus, particularly when genetic material is available only from the proband.”
However, “rigorous validation against the current gold standard of short-reading, next-generation sequencing of trios is needed prior to clinical deployment,” he said. “This will take time and effort. However, the promise of this technology is worth the effort.
“Also, there is the possibility of uncovering novel genetics during testing, which could present an ethical dilemma,” he noted. “A robust consenting and ethical framework and early involvement of an ethicist would be helpful.”
Research in Dr. Lansdorp’s laboratory is funded by the Terry Fox Research Institute, the Canadian Institutes of Health Research, the Canadian Foundation for Innovation, and the government of British Columbia. Dr. Lansdorp, Dr. Jones, and Dr. Yip reported no relevant financial relationships.
A version of this article first appeared on Medscape.com.