A Simplified Approach to Genetic Cancer Risk Assessment Could Lower Access Barriers to Tests

 A Simplified Approach to Genetic Cancer Risk Assessment Could Lower Access Barriers to Tests

A study published on Thursday in JAMA Oncology suggests that eliminating pre-test counselling for all patients and post-test counselling for those without pathogenic cancer risk variants during remote genetic testing may lower barriers to genetic screening for people at risk for hereditary breast and ovarian cancer.


Women who have a personal or family history of breast or ovarian cancer are advised to undergo genetic testing. But those tests are still rarely used. For instance, less than 10% of people without cancer who are eligible for BRCA1/2 testing had received it, and the rate of testing over a 10-year period has not increased, according to a study that was published in 2019 in the Journal of the National Cancer Institute.




Patients may not be aware of genetic testing, but access discrepancies are also correlated with patients' geography, race, ethnicity, income, and insurance status. Additionally, the lengthy process that patients have in the past had to go through in order to get testing, which may include pre- and post-test genetic counselling, might be a barrier.


In the Making Genetic Testing Accessible (MAGENTA) trial, Karen Lu, a gynaecological oncologist at MD Anderson Cancer Centre, and associates from across the nation sought to determine whether substituting online education resources for genetic counselling in specific settings would cause patients receiving genetic tests to learn their risk of developing breast and ovarian cancer to experience more distress.


Lu explained that people frequently don't have time to squeeze in three trips to a medical facility for pre-test genetic counselling, a blood test, and an appointment to receive and discuss results. "We wanted to test what we call genetic testing from your living room," Lu added.


For patients at risk for BRCA1/2 mutations, prior research had demonstrated that telephone counselling was a secure and efficient substitute for in-person counselling in terms of reducing distress, fostering informed decision-making, and giving patient-centered information. In the study, patients could also complete their consent forms and questionnaires online, watch an educational video about genetic testing, complete the test using a mail-in kit, and receive their results online. This prior research served as inspiration for Lu and colleagues to include telephone counselling into the MAGENTA protocol.


The consumer-focused genetic testing business Colour largely invented this genetic testing model. When the MAGENTA researchers first presented the study's findings at the annual meeting of the American Society of Clinical Oncology three years ago, Color's CSO and one of the study's authors, Alicia Zhou, said she hoped to learn from the study how effective her company's testing and counselling model is and if it "may have consequences" in terms of patients' distress.


Patients lacking harmful variations were randomly assigned to three experimental arms within MAGENTA: no mandatory pre- or post-test genetic counselling, mandatory post-test telephone genetic counselling, or mandatory pre-test genetic counselling. Post-test counselling was required for those who had pathogenic variations. Pre-test and post-test counselling was provided to patients in the active comparator arm.




When pre-test and post-test counselling was skipped for those without pathogenic variants, compared to those who received such counselling in the other three arms, Lu and her colleagues found no significant difference in patients' distress levels at three and twelve months after testing in more than 3,800 women.


When compared to what Lu described as "standard pre- and post-test genetic counselling," there was no difference in discomfort in the arms that received less pre- and post-[testing] counselling.




Additionally, when looking at one of the trial's secondary objectives, researchers found that the requirement for genetic counselling prior to testing was a deterrent for patients. According to Lu, "Those two groups [that received pre-test counselling] completed the process at a lower rate than those in the arms where pre-test counselling was not mandated."


Non-Hispanic Black participants in MAGENTA had poorer test completion rates and greater baseline levels of anxiety and depression, which Lu acknowledges as a drawback of the study. This is due to the fact that people from racial and ethnic minority groups typically have higher degrees of worry about genetic testing, which may have made it more difficult to recruit non-white participants for the study.




Although the researchers made great attempts to include diverse volunteers, Lu pointed out that the majority of MAGENTA's population was white, well-educated, and younger, with a median age of 44. Lu and associates warned that their findings might not be generalizable as a result.


Lu concluded by stating that the lack of genetic counsellors in the US makes the usual paradigm of in-person or telephone counselling before and after testing impossible to implement. She added that new models for hereditary cancer testing are required, particularly in light of guidelines expanding to encourage cancer risk genetic testing for patients with a variety of tumour types, including pancreatic and prostate cancer.




Because there are [specific] medicines and a justification for doctors to order the tests, Lu claimed, "We're actually doing well with cancer patients." "However, for those who are not affected, where you're going to have the most impact in terms of preventing future cancers, that's where we are not doing as well," she said. Results from the MAGENTA experiment demonstrate that testing made possible by at-home sample collection and backed by online instruction has fewer hurdles and is a viable alternative in this regard.


Lu stated that she planned to carry out qualitative and quantitative research on genetic testing in many areas, especially underserved communities, in the future.




Huma Rana, clinical director of the division of cancer genetics and prevention at Dana-Farber Cancer Institute, and Judy Garber, division chief of cancer genetics and prevention at Dana-Farber Cancer Institute, noted that the model evaluated in MAGENTA represents a shift to a greater emphasis on post-test genetic counselling rather than pre-test counselling in a commentary that was published alongside the study.


Although the nature of their work is affected, they concluded that the change "does not diminish the role of genetic counsellors in patient care." When faced with complex genetic results, such as variations of dubious significance with conflicting classifications, mosaicism, and unexpectedly positive panel-based testing results, non-genetics practitioners should still seek assistance from genetic counsellors.