Universal Screen for Lynch Syndrome in an Integrated Health Care System: Assessment of Patient Perspectives and Sharing Results With At-Risk Relatives

Background/Aims: Lynch syndrome (LS) is the most common cause of hereditary colorectal cancer (CRC). Evidence-based recommendations promote universal tumor screening for LS among all new cases of CRC over selective screening based on family history or age of diagnosis. Maximal reduction in morbidity and mortality from universal tumor screening depends on patients with a positive screen following up with genetic counseling and testing to confirm a diagnosis of LS and sharing results with at-risk relatives. Methods: Participants included 165 Kaiser Permanente Northwest members aged 39 to 91 years who had undergone surgery for CRC. Tumor samples were screened for microsatellite instability and participants surveyed before and after receiving screening results to assess perspectives on screening and sharing results with at-risk relatives. Results: Most patients reported no family history of CRC; 14.1% had a first-degree relative and 7.4% had a second- or third-degree relative with CRC. However, most (93%) wanted to know their risk for hereditary CRC. Overall, most patients endorsed potential benefits and few barriers to screening, though 62% indicated a worry about the cost of additional testing and surveillance. Before receiving screening results, most patients indicated they would likely share their result with their parents (90%), siblings (96%) and children (97%), where applicable. Of the 25 patients with a positive microsatellite instability screen, 96.0% reported they shared their results with at least one relative. Most patients endorsed motivations to share results, namely: so family members could act to reduce their risk of CRC (76%) and it was their responsibility to let family members know they might be at higher risk of CRC (68%). None of the patients indicated that strained family relationships would prevent them from sharing results, and few indicated that they would not share their results because it would worry relative(s) (8%) or because discussing their results could hurt relationship(s) (4%). Conclusion: Given universal tumor screening will target all new cases of CRC, it is important to understand motivations among patients not identified via high-risk factors such as family history or age of diagnosis. These findings provide insight into patient attitudes and perspectives toward LS screening to guide successful implementation of screening programs

Stakeholder perspectives on implementing a universal lynch syndrome screening program: A qualitative study of early barriers and facilitators

Background: Evidence-based guidelines recommend that all newly diagnosed colon cancers be screened for Lynch syndrome (LS). Best practices for implementing universal tumor screening have not been extensively studied. Purpose We interviewed a range of stakeholders in an integrated health care system to identify initial factors that might promote or hinder the successful implementation of a universal (LS) screening program. Methods: We conducted interviews with health plan leaders, managers, and staff. Interviews were audio recorded and transcribed. Thematic analysis began with a grounded approach and was also guided by the Practical Robust Implementation and Sustainability Model (PRISM). Results: We completed 14 interviews with leaders/managers and staff representing involved clinical and health plan departments. While in general stakeholders supported the concept of universal screening, they identified several internal (organizational) and external (environment) factors that promote/hinder implementation. Facilitating factors included: 1) perceived benefits of screening for patients and organization; 2) collaboration between departments; and 3) availability of organizational resources. Barriers were also found, including: 1) lack of awareness of guidelines; 2) lack of guideline clarity; 3) staffing and program “ownership” concerns; and 4) cost uncertainties. Analysis also revealed nine important infrastructure-type considerations for successful implementation. Conclusion: We found that clinical, laboratory, and administrative departments supported universal tumor screening for LS. Requirements for successful implementation may include interdepartmental collaboration and communication; patient and provider/staff education; and significant infrastructure and resource support related to laboratory processing and systems for electronic ordering and tracking

Universal tumor screening for Lynch syndrome: Assessment of the perspectives of patients with colorectal cancer regarding benefits and barriers

BACKGROUND Universal tumor screening for Lynch syndrome, the most common form of hereditary colorectal cancer (CRC), has been recommended among all patients newly diagnosed with CRC. However, there is limited literature regarding patient perspectives of tumor screening for Lynch syndrome among patients with CRC who are not selected for screening based on family history criteria. METHODS A total of 145 patients aged 39 to 87 years were administered surveys assessing perceived risk, patient perspectives, and potential benefits of and barriers to tumor screening for Lynch syndrome. Associations between patient‐specific and cancer‐specific factors and survey responses were analyzed. RESULTS The majority of participants perceived their risk of developing Lynch syndrome as being low, with 9 participants (6.2%) anticipating an abnormal screening result. However, most participants endorsed the potential benefits of screening for themselves and their families, with 84.8% endorsing ≥6 benefits and 50.3% endorsing all 8 benefits. Participants also endorsed few potential barriers to screening, with 89.4% endorsing ≤4 of 9 potential barriers. A common barrier was worry about the cost of additional testing and surveillance, which was endorsed by 54.5% of participants. The level of distress associated with tumor screening for Lynch syndrome, which was very low, was not associated with age or CRC stage. CONCLUSIONS The results of the current study indicate that patients with CRC overall have a positive attitude toward tumor screening for Lynch syndrome, endorse the benefits of screening, and experience low levels of distress. These findings provide insight into patient attitudes toward tumor screening for Lynch syndrome among unselected patients with CRC to inform educational approaches that assist in patient decision‐making and guide the successful implementation of screening programs. Cancer 2015;121:3281–3289. © 2015 American Cancer Society

Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol

Guidelines currently state that genetic testing is clinically indicated for all individuals diagnosed with ovarian cancer. Individuals with a prior diagnosis of ovarian cancer who have not received genetic testing represent missed opportunities to identify individuals with inherited high-risk cancer variants. For deceased individuals, post-mortem genetic testing of pathology specimens allows surviving family members to receive important genetic risk information. The Genetic Risk Assessment in Ovarian Cancer (GRACE) study aims to address this significant healthcare gap using a “traceback testing” approach to identify individuals with a prior diagnosis of ovarian cancer and offer genetic risk information to them and their family members. This study will assess the potential ethical and privacy concerns related to an ovarian cancer traceback testing approach in the context of patients who are deceased, followed by implementation and evaluation of the feasibility of an ovarian cancer traceback testing approach using tumor registries and archived pathology tissue. Descriptive and statistical analyses will assess health system and patient characteristics associated with the availability of pathology tissue and compare the ability to contact and uptake of genetic testing between patients who are living and deceased. The results of this study will inform the implementation of future traceback programs

A review and definition of ‘usual care’ in genetic counseling trials to standardize use in research

The descriptor 'usual care' refers to standard or routine care. Yet, no formal definition exists. The need to define what constitutes usual care arises in clinical research. Often one arm in a trial represents usual care in comparison with a novel intervention. Accordingly, usual care in genetic counseling research appears predominantly in randomized controlled trials. Recent standards for reporting genetic counseling research call for standardization, but do not address usual care. We (1) inventoried all seven studies in the Clinical Sequencing Evidence-Generating Consortium (CSER) about how genetic counseling was conceptualized, conducted, and whether a usual care arm was involved; (2) conducted a review of published randomized control trials in genetic counseling, comparing how researchers describe usual care groups; and (3) reviewed existing professionally endorsed definitions and practice descriptions of genetic counseling. We found wide variation in the content and delivery of usual care. Descriptions frequently detailed the content of usual care, most often noting assessment of genetic risk factors, collecting family histories, and offering testing. A minority included addressing psychological concerns or the risks versus benefits of testing. Descriptions of how care was delivered were vague except for mode and type of clinician, which varied. This significant variation, beyond differences expected among subspecialties, reduces the validity and generalizability of genetic counseling research. Ideally, research reflects clinical practice so that evidence generated can be used to improve clinical outcomes. To address this objective, we propose a definition of usual care in genetic counseling research that merges common elements from the National Society of Genetic Counselors' practice definition, the Reciprocal Engagement Model, and the Accreditation Council for Genetic Counselors' practice-based competencies. Promoting consistent execution of usual care in the design of genetic counseling trials can lead to more consistency in representing clinical care and facilitate the generation of evidence to improve it

Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews

BackgroundRisk assessment for hereditary cancer syndromes is recommended in primary care, but family history is rarely collected in enough detail to facilitate risk assessment and referral - a roadblock that disproportionately impacts individuals with healthcare access barriers. We sought to qualitatively assess a literacy-adapted, electronic patient-facing family history tool developed for use in diverse, underserved patient populations recruited in the Cancer Health Assessments Reaching Many (CHARM) Study.MethodsInterview participants were recruited from a subpopulation of CHARM participants who experienced barriers to tool use in terms of spending a longer time to complete the tool, having incomplete attempts, and/or providing inaccurate family history in comparison to a genetic counselor-collected standard. We conducted semi-structured interviews with participants about barriers and facilitators to tool use and overall tool acceptability; interviews were recorded and professionally transcribed. Transcripts were coded based on a codebook developed using inductive techniques, and coded excerpts were reviewed to identify overarching themes related to barriers and facilitators to family history self-assessment and acceptability of the study tool.ResultsInterviewees endorsed the tool as easy to navigate and understand. However, they described barriers related to family history information, literacy and language, and certain tool functions. Participants offered concrete, easy-to-implement solutions to each barrier. Despite experience barriers to use of the tool, most participants indicated that electronic family history self-assessment was acceptable or preferable in comparison to clinician-collected family history.ConclusionsEven for participants who experienced barriers to tool use, family history self-assessment was considered an acceptable alternative to clinician-collected family history. Barriers experienced could be overcome with minor adaptations to the current family history tool.Trial registrationThis study is a sub-study of the Cancer Health Assessments Reaching Many (CHARM) trial, ClinicalTrials.gov, NCT03426878. Registered 8 February 2018

Participant Reactions to a Literacy-Focused, Web-Based Informed Consent Approach for a Genomic Implementation Study

BackgroundClinical genomic implementation studies pose challenges for informed consent. Consent forms often include complex language and concepts, which can be a barrier to diverse enrollment, and these studies often blur traditional research-clinical boundaries. There is a move toward self-directed, web-based research enrollment, but more evidence is needed about how these enrollment approaches work in practice. In this study, we developed and evaluated a literacy-focused, web-based consent approach to support enrollment of diverse participants in an ongoing clinical genomic implementation study. Methods: As part of the Cancer Health Assessments Reaching Many (CHARM) study, we developed a web-based consent approach that featured plain language, multimedia, and separate descriptions of clinical care and research activities. CHARM offered clinical exome sequencing to individuals at high risk of hereditary cancer. We interviewed CHARM participants about their reactions to the consent approach. We audio recorded, transcribed, and coded interviews using a deductively and inductively derived codebook. We reviewed coded excerpts as a team to identify overarching themes. Results: We conducted 32 interviews, including 12 (38%) in Spanish. Most (69%) enrolled without assistance from study staff, usually on a mobile phone. Those who completed enrollment in one day spent an average of 12 minutes on the consent portion. Interviewees found the information simple to read but comprehensive, were neutral to positive about the multimedia support, and identified increased access to testing in the study as the key difference from clinical care. Conclusions: This study showed that interviewees found our literacy-focused, web-based consent approach acceptable; did not distinguish the consent materials from other online study processes; and valued getting access to testing in the study. Overall, conducting empirical bioethics research in an ongoing clinical trial was useful to demonstrate the acceptability of our novel consent approach but posed practical challenges