Last year when we were promised a soon-to-be-on-the-market, pan cancer, genetic based screening test, many of us were taken aback at the hubris. Not only does the science have a ways to go, there are deep ethical conflicts to work through. However, cancer screening based on a patient’s genetics is already being done in certain niche areas.
Josh Schiffman is a cancer researcher at the Huntsman Cancer Institute in Utah. He’s also a pediatric oncologist serving as the Medical Director of the Institute’s High Risk Pediatric Cancer Clinic. At the clinic, Josh and his colleagues put out a study where they demonstrated that early cancer surveillance in patients who have a rare disease called Li-Fraumeni Syndrome can dramatically increase overall survival.
Why Li-Fraumeni Syndrome? It turns out that patients from families with Li-Fraumeni Syndrome have only one working copy of the P53 gene, a well known protective mutation for cancer. Because of this genetic predisposition to cancer, these patients were screened early with whole body MRIs and other blood tests. For the study, patients whose tumors were found due to the early cancer screening were compared to those patients whose cancer was diagnosed because they presented with symptoms. The overall survival rate for those screened early was 100 percent compared to just 20 percent in the later group.
Should Josh’s work with this sub-population translate out to doing cancer screening for all based on known high risk cancer mutations? Josh says let’s do the study. As for the ethical concerns, he feels the landscape of cancer genetics has shifted.
“Many years ago we didn’t offer P53 screening to children, because there was nothing you could do about it,” he says in today’s interview. "But now that we’ve come a far way and technology has improved, if there is something we can do about it, then it makes more sense to do the test. So we believe very strongly that all children at increased risk [for cancer] should be tested."