Skipping some counseling for genetic cancer testing did not increase levels of distress in participants of a trial in which a new remote model could be used for genetic risk assessment, according to the study’s researchers.
In a study recently published by JAMA Oncology, the authors established that the Making Genetic Testing Accessible (MAGENTA) trial showed that omitting required pretests and posttests, or both, for genetic counseling before genetic cancer testing did not increase levels of distress in the participants. The study also found that remote options for genetic counseling and testing could benefit individuals at a lower risk.
According to the National Cancer Institute, genetic counseling is a process of communication with a trained health professional and an individual who is concerned about the genetic risk of diseases such as cancer. The discussion typically includes the individual’s family history and personal medical history, which could lead to the process of genetic cancer testing.
Pathogenic variants are referred to by the National Cancer Institute as a change in the DNA sequence of gene. This can increase the risk of developing a genetic disease — or cancer — in an individual. Pathogenic variants may be inherited from an individual’s parents or can occur at a point during a person’s life. The National Cancer Institute also noted that “knowing if a person has a pathogenic variant may help prevent, diagnose and treat diseases, such as cancer.”
The study from JAMA Oncology included a total of 3839 participants, all who identified as women and were age 30 or older. Most of the participants were non-Hispanic White and received a college education. Participants were placed into four cohorts.
According to the study, cohort A did not require pretest and posttest counseling, cohort B required only posttest counseling, cohort C was the control group and required traditional pretest and posttest counseling via telephone, and cohort D required only pretest counseling.
The study’s purpose was to determine the effect of pretest and posttest counseling and to see whether posttest counseling would increase levels of distress in participants. The authors of the study also evaluated the effectiveness of remotely delivered counseling and subsequent genetic testing for better accessibility and convenience for individuals. Based on the results, the authors found that remotely delivered counseling and genetic testing could be used as an alternative model for individuals who are at lower risk.
Remotely delivered genetic counseling was through phone appointments, and genetic testing entailed at-home saliva kits. These two remote options for both counseling and testing offered a more beneficial approach to individuals, as they no longer had to make in-person appointments and travel to clinics or hospitals.
The study authors investigated whether the participants from the three experimental cohorts would express differences in distress compared with the control cohort after three months and 12 months.
“In the primary analysis in the family history cohort (cohort A), each of the three experimental arms was noninferior to the control arm for distress at three months. Distress at three months was not significantly different across the arms,” the study authors wrote.
“Each of the three experimental arms was noninferior to the control arm for distress at 12 months,” they wrote. “Similarly, the fraction of individuals with very high distress did not differ significantly between arms at 12 months.”
Similar to the analysis of participant distress, the authors also identified whether baseline depression and anxiety played a role in lower completion of genetic testing.
“In addition to the primary outcome of distress, eliminating pretest and/or posttest individual counseling did not increase anxiety or depression or negatively impact completion rates,” wrote the authors. “Together, these outcomes support and alternative model for genetic testing delivery with pretest information provided electronically and posttest counseling for those with (pathogenic variants) and on demand for those without (pathogenic variants).”
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