Patients are often misinformed about the results of their genetic tests

Written by Ilana Landau, Editor

A first-of-its-kind, pilot study, conducted in tandem with the Lung Cancer Master Protocol (Lung-MAP) trial, has revealed that participants of biomarker-driven, cancer clinical trials do not fully understand the results, and implications, of their required genetic testing.

The Lung Cancer Master Protocol (Lung-MAP) study is the first, National Cancer Institute (MA, USA)-supported, lung cancer precision medicine trial. Upon enrollment in Lung-MAP, patients receive somatic genetic testing. In this novel pilot study, Joshua Roth, a Lung-MAP investigator from the Fred Hutchinson Cancer Research Center (DC, USA), has observed that patients who underwent such somatic testing did not understand the extent of implications of their test results.

Genetic testing features heavily in biomarker-driven, cancer clinical trials, with two main forms employed: somatic and germline testing. The results of such genetic tests may be used to designate patients to specific treatment-receiving groups in cancer clinical trials. This aims to ensure that patients are more likely to receive a therapy that will be efficacious for them.

In his pilot study, Roth surveyed 123 Lung-MAP study participants to determine their knowledge and understanding surrounding their genetic testing.

Frequently asked questions:

86% of surveyed participants attested to knowledge that the results of their genetic testing would determine their assignation to a specific treatment regime in a clinical trial.

Further, 83% of surveyed patients reported having received sufficient information about the genetic tests they were to receive and the benefits of trial enrollment.

However, only 9% of questioned patients demonstrated correct knowledge that their somatic testing, received upon Lung-MAP enrollment, could not predict if their family members were at increased risk of cancer development.

88% of surveyed participants assumed their somatic testing was prognostic of their increased risks of developing other diseases.

Roth commented: “Given the public conversation about precision medicine, and the sharp increase in biomarker-driven cancer clinical trials, it’s clear that lot of people don’t really understand these complex trials and the testing that drives them. We need to learn more about the public’s knowledge gaps so we can fill them.”

Roth plans to extend the results of this pilot study by further appraising patients’ attitudes on tumor genetic testing in cancer clinical trials.


What is somatic testing?

Somatic genetic testing is performed on tumor cells only; the mutant cells are assessed for randomly occurring DNA mutations that are associated with malignancy. Somatic mutations occur after birth.

What is germline testing?

Germline genetic testing is performed to determine if a patient has inherited DNA mutations associated with potential cancer development. Germline testing is not performed on tumor cells; any detected DNA mutations are located in all body cells.

What is a biomarker?

A biomarker is a measurable and/or quantifiable, biological indicator of the presence or severity of a pathological condition. Examples of biomarkers include the levels of a disease-associated protein or transcriptional gene activity.