Despite recommendations from the US Preventive Services Task Force, less than 10% of women with a suggestive family history of hereditary breast and ovarian cancer receive genetic testing. Multiple barriers include low population awareness, multiple steps to accessing genetic testing and services, mandatory in-person visits for pretest and posttest counseling, and socioeconomic factors, as well as a shortage of genetic counselors. It has been suggested that mandating genetic counseling can even cause psychologic harm. Dr Elizabeth Swisher and colleagues conducted a large, randomized study (Making Genetic Testing Accessible [MAGENTA]) to assess whether omitting mandatory pretest and/or posttest genetic counseling would increase distress during remote cancer genetic screening among a large population of women (N = 3,839).
Participants in the trial were randomized to 4 arms: 1 with no mandated counseling, 1 with mandated posttest counseling, 1 with mandated pretest counseling, and a control arm with both pretest and posttest telephone counseling. At 3 and 12 months, distress (measured by the Impact of Event Scale) among women with a family history or familial pathogenic variants was not significantly different across the study arms as compared with the control arm. Overall, the elimination of pretest and/or posttest counseling was not shown to increase anxiety or depression or negatively impact completion rates. Additionally, counselors reported that participants rarely (<5%) reached out for additional counseling.
The results of this study support the option of a less intensive counseling approach in the provision of cancer genetic risk assessment. The authors suggest implementing an alternative approach to genetic testing delivery, with pretest information provided electronically and posttest counseling for those with pathogenic variants or for those without pathogenic variants who request counseling. Ultimately, honoring the preferences of low-risk individuals to skip counseling is unlikely to increase distress.
The outcomes of this study suggest that mandatory individualized pretest and posttest counseling may introduce barriers to remote cancer genetic screening for some patients. Elimination of mandatory counseling did not affect completion rates and may provide more flexibility for some while reducing costs. Interestingly, the highest test completion rates occurred in the arms that did not have mandated pretest counseling. To address health disparities, studies specifically targeting certain groups are needed to determine how best to equitably provide cancer genetic risk assessment. The authors also recommend use of alternative community strategies to increase diversity and engagement among a broader population.
Even in the setting of remote care delivery and telephone counseling, the requirement for pretest genetic counseling may serve as a barrier to test completion for some patients. Dr Swisher suggested implementation of a patient-centric remote cancer genetic testing model, in which patients are given the option to decide for themselves whether to receive pretest and/or posttest genetic counseling, as well as the option for remote, home-based testing. This may potentially remove some of the barriers and lead more people to complete genetic testing when recommended. Family and community healthcare providers have an important role in encouraging people with a family history of cancer to undergo genetic testing to help guide cancer prevention strategies and care plans, if appropriate.