Experiences of patients and family members with follow-up care, information needs and provider support after identification of Lynch Syndrome.

BACKGROUND: Lynch Syndrome is among the most common hereditary cancer syndromes and requires ongoing cancer surveillance, repeated screenings and potential risk-reducing surgeries. Despite the importance of continued surveillance, there is limited understanding of patient experiences after initial testing and counseling, the barriers or facilitators they experience adhering to recommendations, and how they want to receive information over time. METHODS: A cross-sectional, observational study was conducted among 127 probands and family members who had received genetic testing for Lynch Syndrome. We conducted semi-structured interviews to determine proband and family member experiences after receiving genetic testing results including their surveillance and screening practices, information needs, and interactions with health care providers. Both closed-ended and open-ended data were collected and analyzed. RESULTS: Both probands (96.9%) and family members (76.8%) received recommendations for follow-up screening and all probands (100%) and most family members (98.2%) who tested positive had completed at least one screening. Facilitators to screening included receiving screening procedure reminders and the ease of making screening and surveillance appointments. Insurance coverage to pay for screenings was a frequent concern especially for those under 50 years of age. Participants commented that their primary care providers were often not knowledgeable about Lynch Syndrome and surveillance recommendations; this presented a hardship in navigating ongoing surveillance and updated information. Participants preferred information from a knowledgeable health care provider or a trusted internet source over social media or support groups. CONCLUSIONS: Probands and family members receiving genetic testing for Lynch Syndrome generally adhered to initial screening and surveillance recommendations. However, factors such as insurance coverage and difficulty finding a knowledgeable healthcare provider presented barriers to receiving recommended follow-up care. There is an opportunity to improve care through better transitions in care, procedures to keep primary care providers informed of surveillance guidelines, and practices so that patients receive reminders and facilitated appointment setting for ongoing screening and surveillance at the time they are due.

Evaluating visual imagery for participant understanding of research concepts in genomics research.

Informed consent is crucial for participant understanding, engagement, and partnering for research. However, current written informed consents have significant limitations, particularly for complex topics such as genomics and biobanking. Our goal was to identify how participants visually conceptualize terminology used in genomics and biobanking research studies, which might provide a novel approach for informed consent. An online convenience sample was used from May to July 2020 to collect data. Participants were asked to draw 10 randomly chosen words out of 32 possible words commonly used in consent forms for genomics and biobanking research. An electronic application captured drawings that were downloaded into a qualitative software program for analysis. A total of 739 drawings by 269 participants were captured. Participants were mostly female (61.3%), eight different race/ethnicities were represented (15.6% Black, 13.8% Hispanic), and most had some college education (68.8%). Some words had consistent visual themes such as different types of risky activities for risk or consistent specific images such as a double helix for DNA. Several words were frequently misunderstood (e.g., ascend for assent), while others returned few submissions (e.g., phenotype or whole genome sequencing). We found that although some words used in genomics and biobanking research were visually conceptualized in a common fashion, but misunderstood or less well-known words had no, few, or mistaken drawings. Future research can explore the incorporation of visual images to improve participant comprehension during consent processes, and how to utilize visual imagery to address more challenging concepts.

Beyond minority stress: Toward a multidimensional psychology of trans/nonbinary gender.

Although research that documents minority stress caused to LGBTQ + people supports needed advocacy, it can concomitantly cause harm to communities by portraying them as depleted and powerless. This review article assesses if and how researchers who study minority stress also center interpersonal functions of gender expression that are agentic for trans/nonbinary (TNB) people. These functions were coded in the qualitative research related to minority stress for TNB people over the last five years. Findings revealed that while most interpersonal functions of gender were described rarely, especially those associated with TNB communities of color, damage-centered perspectives were common. Damage-centered perspectives were common. We charge the field to expand its scope of inquiry, center functionalist and agency-focused research, and to develop a multidimensional psychology of gender.

Uptake of genetic counseling and multi-gene panel testing among women in the Intermountain West with previous negative BRCA1 and BRCA2 results contacted for updated testing.

Women with a personal history of breast or ovarian cancer who previously had BRCA1/2 testing now have the opportunity for additional genetic risk information through multi-gene panel testing. However, little is known about women's receptivity to further contact and uptake of genetic counseling and updated genetic testing. Utilizing a clinic database to identify potential participants, we prospectively contacted women in the United States with a personal and/or family history of breast or ovarian cancer who had negative BRCA1/2 testing, which was performed primarily between 2011 and 2018. Eligible and interested participants were scheduled for a genetic counseling appointment to discuss updated genetic testing using a multi-gene panel. We attempted to contact 455 participants, screened 203 (45%), and 103 (23%) completed a pre-test genetic counseling visit to discuss updated testing. Of these, 88 participants had updated multi-gene panel testing. Participants had an average age of 59 years, and most (78%) had breast cancer with an average age of 45 at diagnosis. The majority (97%) of participants were white. Of participants who underwent panel testing, 13% (n = 11) had at least one pathogenic variant identified. Most participants (86%) had an out-of-pocket cost of $100 or less for their panel. There is a sizable population of women with a personal and/or family history of breast or ovarian cancer and negative BRCA1/2 test results who would qualify for updated multi-gene panel testing. In our study, 59% of those reached who were eligible completed a pre-test genetic counseling visit. Clinics could consider an outreach program to offer genetic counseling and updated genetic testing. Supports for this type of effort may include coordinators and genetic counseling assistants and an available database with patients' contact information and prior genetic test results. Updated testing allows women more information about their risk and may expand the value of genetic counseling.

Theory utilization in current communication of cancer genetic testing research: Identified gaps and opportunities.

BACKGROUND: Effective communication of cancer-related genetic and genomic testing (CGT) with patients and the public is paramount to transforming and managing cancer prevention, detection, and care. Behavioral and social science theories could improve communication effectiveness and, in turn, health outcomes. METHODS: In this study, we characterized the use of theory in recent research on communication about CGT from 2010 to 2017. RESULTS: Of 513 empirical papers focusing on communication about CGT, only 119 (23%) utilized any theory in the study design. Behavior change and health psychology/cognitive representation theories (24.2% and 21.9%, respectively) were the most commonly used with minimal use of communication theories (3%). Theories were primarily used to guide hypotheses or research question development (73.9%), and for selecting measures or codes (68.9%). Approximately half of the papers (48.3%) related their study findings to the referenced theory. Fewer papers (14.3%) discussed implications of the findings for the theory. CONCLUSIONS: While theories are being utilized to inform study design, few discuss their results in the context of theoretical implications and thus decrease potential generalizability. Greater use of theory could help scholars to identify and develop theories suited to this clinical context and inform our understanding of related communication processes more broadly.

Comparing models of delivery for cancer genetics services among patients receiving primary care who meet criteria for genetic evaluation in two healthcare systems: BRIDGE randomized controlled trial.

BACKGROUND: Advances in genetics and sequencing technologies are enabling the identification of more individuals with inherited cancer susceptibility who could benefit from tailored screening and prevention recommendations. While cancer family history information is used in primary care settings to identify unaffected patients who could benefit from a cancer genetics evaluation, this information is underutilized. System-level population health management strategies are needed to assist health care systems in identifying patients who may benefit from genetic services. In addition, because of the limited number of trained genetics specialists and increasing patient volume, the development of innovative and sustainable approaches to delivering cancer genetic services is essential. METHODS: We are conducting a randomized controlled trial, entitled Broadening the Reach, Impact, and Delivery of Genetic Services (BRIDGE), to address these needs. The trial is comparing uptake of genetic counseling, uptake of genetic testing, and patient adherence to management recommendations for automated, patient-directed versus enhanced standard of care cancer genetics services delivery models. An algorithm-based system that utilizes structured cancer family history data available in the electronic health record (EHR) is used to identify unaffected patients who receive primary care at the study sites and meet current guidelines for cancer genetic testing. We are enrolling eligible patients at two healthcare systems (University of Utah Health and New York University Langone Health) through outreach to a randomly selected sample of 2780 eligible patients in the two sites, with 1:1 randomization to the genetic services delivery arms within sites. Study outcomes are assessed through genetics clinic records, EHR, and two follow-up questionnaires at 4 weeks and 12 months after last genetic counseling contactpre-test genetic counseling. DISCUSSION: BRIDGE is being conducted in two healthcare systems with different clinical structures and patient populations. Innovative aspects of the trial include a randomized comparison of a chatbot-based genetic services delivery model to standard of care, as well as identification of at-risk individuals through a sustainable EHR-based system. The findings from the BRIDGE trial will advance the state of the science in identification of unaffected patients with inherited cancer susceptibility and delivery of genetic services to those patients. TRIAL REGISTRATION: BRIDGE is registered as NCT03985852 . The trial was registered on June 6, 2019 at clinicaltrials.gov .

Keeping an "I" on PRIDE: Measuring Imitation in Parent-Child Interaction Therapy.

In parent-child interaction therapy (PCIT), therapists encourage parents to imitate child behaviors in order to convey approval of the child's actions and promote the development of linguistic and social-cognitive skills. However, the Dyadic Parent-Child Interaction Coding System (DPICS-IV), used to measure skills taught during PCIT, does not include guidelines for coding parent-child imitation, making it difficult to determine how PCIT affects it. The current study addresses this problem by developing guidelines for coding imitation, which were then used to code DPICS-IV segments from 58 Mexican American families that participated in a past clinical trial. Results suggest that these coding guidelines can be used to reliably measure parent and child imitation. A series of additional analyses supported the construct validity of the codes. Specifically, there was a trend for parent imitation, but not child imitation, to increase more from pre-post treatment in PCIT relative to treatment as usual. In addition, parents who imitate their children were found to have children who imitate them more in return. Finally, improvement in parent imitation, but not child imitation, was significantly related to a decrease in child behavior problems. Further study is needed to determine the optimal frequency of imitation, and findings suggest that additional attention to coaching imitation may be warranted.

Researcher Knowledge, Attitudes, and Communication Practices for Genomic Data Sharing.

This study examines knowledge, attitudes, and communication practices toward genomic data sharing among principal investigators and research coordinators engaged in cancer and non-cancer studies. We conducted 25 individual semi-structured interviews and conducted a qualitative thematic analysis. Most interviewees had basic knowledge of data sharing requirements, but lacked specific details of recent changes to NIH policy. Principal investigators perceived more risks to participants for data sharing than the research coordinators who generally obtained consent. Interviewees perceived a trend toward providing fewer data sharing options to participants in the consent process, and had observed that parents of pediatric patients asked more questions than adult patients. Our findings highlight potential areas for improvement related to data sharing during consent processes.