1 INTRODUCTION

It is well established that individuals with hereditary predisposition to cancer due to germline BRCA1 and BRCA2 (BRCA) pathogenic variants (PVs) have increased risks of multiple malignancies. The greatest risk differentials are observed for cancers of the breasts, ovaries, prostate, pancreas, and skin (specifically melanomas) (Castro et al., 2013; Evans et al., 2010; Hereditary Breast Cancer Clinical Study Group, 2010; Iqbal et al., 2012; Kuchenbaecker et al., 2017), and evidence-based management guidelines are used to modify and manage risks in PV carriers (NCCN, 2020). Due to the possible cancer risks associated with PVs in BRCA, cascade testing (the process by which relatives of a proband are tested for the family's already identified PV) is the standard of care and uniformly endorsed by professional organizations (NCCN, 2020; Society of Gynecologic Oncology, 2018; ACOG, 2018). The United States Centers for Disease Control (CDC) Office of Public Health Genomics has classified cascade screening for a familial BRCA PV as a Tier 1 genomic application, which means that familial testing for these PV’s has 'significant potential for positive impact on public health based on available evidence-based guidelines and recommendations' (2014). Despite its publicized importance, uptake of cascade genetic testing among families with hereditary cancer syndromes is underwhelming with just 15%–51% of first- and second-degree relatives opting for testing of a familial PV (Fehniger et al., 2013).

Cascade testing is possible only if effective communication within a family is achieved. Given privacy laws such as the Health Information and Portability Accountability Act of 1996 (HIPAA) that protect a patient's personal health information, it is up to a patient to communicate their genetic test results to at-risk relatives unless they have given explicit written consent for their care provider to contact their relatives on their behalf. This responsibility introduces a communication barrier for many families. Factors such as the emotional burden of a proband's cancer diagnosis or estranged family relationships sometimes prohibit any communication about the proband's genetic test results (Chivers et al., 2010; Dugan et al., 2003). In other families, communication occurs but is incomplete. Selective communication—the notification of some but not all family members—has been observed (Dugan et al., 2003; Elrick et al., 2017). This selective communication implies that probands are engaging in some individual decision-making about with whom to share their genetic test results. Data show that the patient's selection of who to inform in the family could be clinically influenced (i.e., informing family members that are at the highest risk for cancer if they too have the family's PV), or the selection could be based on the proband's perception of their relative's readiness to receive or emotionally handle the information (Chivers et al., 2010; Forrest et al., 2003). If a proband views the information learned from their genetic test result as scary for relatives (Lieberman et al., 2018) or if the proband is worried about their relatives’ potentially negative reactions to receiving this information, they are hesitant to share their genetic test result with them (Hamilton et al., 2005). It is unclear, however, whether probands’ predictions of their relatives’ affective reactions is concordant with their relatives’ actual response. Reactions from relatives receiving information about familial genetic testing results have been understudied, although probands have described a variety of emotional responses in receiving one's own genetic test results and data in the literature are inconsistent (Butow et al., 2005; Dorval et al., 2000, 2008).

In recognition of the inherent burden on patients to share their genetic test result with relatives, genetics providers may attempt to aid their clients in this process through the provision of written materials or other resources that can be shared with relatives. Family members given educational resources such as a genetic counseling note or family letter are significantly more likely to see a clinician and utilize genetic counseling, and they are more likely to pursue genetic testing and cancer screening (Dilzell et al., 2014). However, provision of such resources by health care providers is not universal. In fact, 41% of genetics health professionals surveyed never write letters for family members after a patient undergoes genetic testing (Forrest et al., 2010). Even when provided, clinically written documents like progress notes and family letters generally are not written with the intent to increase the likelihood of a specific health behavior, and the effectiveness of the document to convey specific information is not assessed.

Each individual who learns of his/her relative's genetic test result will respond and cognitively process the information differently. Literature about message processing suggests that upon receipt of a new message, some individuals experience a simpler heuristic processing response primarily dictated by knowledge structures they already have, while the same message presented to other individuals will initiate a more systematic or deeper thought process (Chaiken et al., 1989). Because deeper consideration of a message is more likely to be associated with the message's desired behavior (Griffin et al., 2002; Kahlor et al., 2003), effective communication aids for cascade genetic testing must be interesting and engaging to increase the likelihood of systematic message processing.

In order to create novel approaches to increasing uptake of cascade testing among families, lessons can be learned from communications literature. While there are multiple possible approaches to message delivery, some data suggest that narrative—a personal story with beginning, middle, and end—creates engagement in a storyline and can result in individual 'vicarious cognitive and emotional response' that transports the individual into the story (Moyer-Gusé, 2008). Inherently, narratives are communicated more succinctly in video form, and they allow for clear representation of multiple voices. Although narratives are employed within health communication and are regarded as a potential tool to promote health-behavior change (Hinyard et al., 2012), there is no known research on the impact of narrative on family communication and cascade testing.

Here, we describe an evaluation of the effectiveness of video-based messaging by assessment of gained knowledge, message processing, and affective reactions post-viewing a video that describes a BRCA PV in the recipient's relative. Data from our study can be used to inform the creation of scalable communication aids in clinical genetics practice.

2 METHODS

We conducted a formative online research study to assess reactions to and understanding of a 2-min video designed to educate family members of a proband with a PV in BRCA about the implications of HBOC. To help guide the design process, we conducted a formative focus group of women with a PV in BRCA. Focus group participants were identified through a local support group for women with BRCA PVs. There were 8 total participants, and demographics were not collected to maintain some level of anonymity among the group. They identified common areas of misconception and misinformation that arose when they notified relatives of their own genetic test results. Among the most agreed upon misconceptions were that (a) people are expected to pay large sums of money for genetic testing; (b) there are no actions to be taken to reduce cancer risk if a person tests positive; and (c) that opting out of genetic testing was not a possibility. All of the focus group-identified concepts are addressed in the video in addition to the inclusion of information about cancer risks, inheritance, and how to access genetic counseling and/or cascade genetic testing. The video uses illustrated animation to describe the finding of a BRCA PV in a relative of the viewer (example from audio script: 'A relative of yours recently had genetic testing, and was found to have a mutation – think of it as a typo – in a gene called BRCA1 or BRCA2'.). The video script was written in second person point of view. This perspective was used to maintain the integrity of the message in the event that once shared by the proband, other relatives might further share the video. It should be noted that the word 'mutation' was used throughout the video and accompanying questionnaire, although we use the term 'pathogenic variant' here. The video was developed and produced by study investigators at The Ohio State University in collaboration with Mills James Productions, who provided artistry, animation, background music, and professional voiceover of the investigator-provided script. The video contains no individual personal health information. It outlines the narratives of both males and females, and includes characters of varied skin tones representing various racial and ethnic groups. The study was approved by the Institutional Review Board at The Ohio State University. All participants provided informed consent prior to their inclusion in the study.

3 RESULTS

Demographic data are illustrated in Table 1. Participants were primarily between the ages of 20–49 years, female, and White. Most participants attended some college, and annual household income levels varied among participants. Some participants reported a family history of cancer, with 49% (n = 182) reporting at least one first-degree relative with cancer and 69% (n = 257) of participants reported having at least one second-degree relative with cancer.

4 DISCUSSION

Cascade testing for familial BRCA PVs is underutilized, and the burden on probands to be stewards of their genetic information for their family members is great due in part to the proband's responsibility to describe complicated clinical information and their inherent worry about their relatives’ potentially adverse reactions (Chivers, 2010; Dugan, 2003; Fehniger, 2013). Thus, as we develop communication tools to aid probands in this process, it is imperative to understand a recipient's potential reactions and intended behaviors. Though tested through a hypothetical scenario, our data suggest that familial testing information can effectively be conveyed in a succinct video format to individuals who were not anticipating receipt of this type of information.

One measure of the video's effectiveness is evidenced by the significant knowledge gained post-video viewing. Digital media best practices show 59% retention of a video less than 90 s in length and decreasing retention with increasing video length (Vidyard, 2018). Our study provides proof of concept that familial genetic information can be effectively communicated in as little as two minutes via video.

Our data also suggest a tendency toward systematic message processing when each item is considered individually. The highest mean score for processing items was observed for the item that read, 'This video made me really think about the bad aspects of having a BRCA PV'. In this context, the 'bad aspects' of a PV are subjective but most likely include the possibility of increased cancer risk and potential to face difficult management decisions if an individual is positive. These important considerations should be taken seriously when considering whether to undergo cascade testing. The processing item with lowest mean score read, 'When viewing the video, I did not want to think about having a BRCA gene PV'. It is possible that this particular processing measure is inappropriate in the setting of a BRCA PV because the answers to this question may reflect the further processing of potential risk information rather than a more heuristic denial response. Further research is needed to evaluate the use of cognitive processing measures in the context of family sharing of risk information.

Repeatedly in the literature, probands worry that their relatives will have a negative affective reaction to learning of the proband's genetic test results (Hamilton et al., 2005). However, our data suggest an overall positive affective response within this cohort. While it is reasonable to expect variation in response among families actually affected by HBOC, approximately 39% of participants indicated they would be glad to receive the video from a relative, which is similar to findings from Peterson et al. in utilization of a family member-directed letter for Lynch syndrome, another hereditary cancer syndrome (2019). Meanwhile, 66% of our cohort would feel thankful to receive the video (11% disagreed with feeling thankful). This subtle, but important distinction indicates that while a person may not express happiness with learning of a relative's genetic test result, gratitude remains despite other potentially negative feelings. Given the implications of potentially having a PV in BRCA1 or BRCA2, and the available interventions, it is reasonable that a majority of participants would be thankful to receive the information. Further, gratitude has been shown to influence subjective well-being in a variety of ways, primarily within social and psychological health (Cunha et al., 2019; Wood et al., 2010). Counseling probands about possible reactions from family members during genetic test result disclosure could help alleviate some fear that probands have previously reported with regard to sharing information with their relatives (Chivers et al., 2010).

Our study was designed to assess the affective reaction of people who had no prior warning about the information contained in the study video. In our cohort, an overall average of 73% of participants indicated they would feel caught off guard or surprised when receiving the video from a family member. These data are in contrast with a previously mentioned study, in which 34% and 19% of family members were surprised or shocked to receive information, respectively (Peterson et al., 2019). It is important to note, however, that roughly 1/3 of the participants in this prior study had already undergone genetic testing, which likely accounts for the large difference in results.

This study addresses known problems with familial communication of genetic testing results by providing a simple and effective alternative communication aid. Given that almost half of genetic counselors surveyed report that they never write a family letter to aid in cascade testing and a majority of genetic counselors spend up to 30 min per patient on post-result appointment follow-up, an easy-to-use intervention is essential (Forrest, 2010; NSGC, 2020). A short video, like the one studied here, can be instantly delivered to probands in multiple ways and be shared and viewed an indefinite number of times with very little effort on behalf of the proband or provider. It was designed to be delivered via SMS (short message service, commonly known as text message), which is widely accessible to individuals of diverse socioeconomic backgrounds (Pew Research Center, 2017).

Conflict of Interest

Amber M. Aeilts, Kristen M. Carpenter, Shelly R. Hovick, Lindsey Byrne, and Leigha Senter declare that they have no conflict of interest.

AUTHOR CONTRIBUTIONS

Amber Aeilts was involved in conceptualization, data curation, methodology, project administration, statistical analysis, writing—original draft, and writing—review and editing. Kristen Carpenter, Shelly Hovick, and Lindsey Byrne were involved in conceptualization, and writing—review and editing. Abigail Shoben involved in statistical analysis, and writing—review and editing. Leigha Senter was involved in conceptualization, methodology, investigation, project administration, statistical analysis, supervision, writing—original draft, and writing—review and editing.

Authors Amber Aeilts and Leigha Senter confirm that they had full access to all the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis. All of the authors gave final approval of this version to be published and agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

COMPLIANCE WITH ETHICAL STANDARDS