Development and early‐stage evaluation of a patient portal to enhance familial communication about hereditary cancer susceptibility testing: A patient‐driven approach

Abstract

Introduction: Genetic testing for hereditary cancer syndromes (HCSs) can improve health outcomes through cancer risk mitigation strategies. Effective communication between tested individuals and their family members is key to reducing the hereditary cancer burden. Our objective was to develop a patient portal to improve familial communication for patients undergoing HCS genetic testing, followed by an early-phase evaluation. Methods: The portal was developed following the completion of 25 semistructured interviews with individuals having undergone HCS susceptibility testing at BC Cancer. Following initial development, we recruited patients and healthcare providers to provide critical feedback informing portal refinement. Quantitative feedback was summarized using descriptive statistics, and qualitative feedback was synthesized by two reviewers who engaged in iterative discussion within the research team to prioritize recommendations for integration. Results: The patient portal includes four key components consisting of (a) targeted educational information about hereditary cancer and HBOC syndrome associated risks and testing process overview, (b) a general frequently asked questions 'FAQ' page informed by the qualitative interviews, patient partner feedback, and consultation with the HCP, (c) guidance to support familial communication including a video developed with a patient partner describing their lived experience navigating the communication process and (d) a series of lay summaries of genetic test findings to support information transfer among family members. Thirteen healthcare providers and seven patients participated in user testing. Domains within which

Healthcare Professionals’ Learning Needs and Perspectives on Essential Information in Genetic Cancer Care: A Systematic Review

“…Our findings indicate HCPs growing interest in managing hereditary forms of cancer, as indicated by the recent acceleration of related research [1,11,20,22,28,29]. This trend aligns with the increasing demand for genetic counseling and testing for hereditary forms of cancer [1,2].…”

“…This first selection stage yielded 260 potentially relevant studies. After conducting a full-text review of these studies, we included 11 studies [ 1 , 10 , 11 , 20 , 21 , 24 , 25 , 26 , 27 , 28 , 29 ]. A manual search through the references of these selected articles identified an additional 455 studies.…”

“…Most studies (85%) reported the perspectives of HCPs who cared for individuals affected by hereditary breast and ovarian cancer (HBOC) [1,10,11,[20][21][22]24,26,[28][29][30], followed by one study focusing on Lynch syndrome [27], and one study focusing on various hereditary cancer syndromes [25]. Nine studies [1,10,11,20,22,24,25,28,29] examined the learning needs of HCPs regarding risk management and counseling for families with hereditary cancer (Table 2); eight studies [1,10,11,20,24,25,28,29] compared HCPs' learning needs according to their profession (Table 2); and six studies [10,21,22,26,27,30] explored the perspectives of HCPs on information that is essential for families with hereditary forms of cancer (Table 3). Decision-making process in their centers • [20] Optimal time to provide aid in making a decision • [25] Factors to consider when recommending risk management strategies…”

“…3. Resources for supporting hereditary cancer families [11,20,25,29] Material resources • • • [11,20,25] Human resources • • [11,20] 4. Guidance for supporting familial issues [10,22,29] Family communication • [10,29] Disclosing test results [22] Family planning…”

Acceptability and Usability of the Family Gene Toolkit for Swiss and Korean Families Harboring BRCA1/BRAC2 Pathogenic Variants: A Web-Based Platform for Cascade Genetic Testing

“…However, there are only a handful of trials regarding family communication of genetic testing results and/or cascade genetic testing [ 26 ]. Few studies involving digital communication technologies, such as chatbots or other digital media, describe pilot testing in non-randomized trials and/or without comparisons to a control group [ 27 , 28 , 29 , 30 , 31 , 32 , 33 ].…”