Investigation of interest in and timing preference for cancer predisposition testing and expanded carrier screening among women of reproductive age.

Objective: To examine cognitive, relational, and social predictors of interest in and timing preference for cancer predisposition testing (CPT) and expanded carrier screening (ECS) offered in routine gynecologic care for women of reproductive age. Methods: Women between 20 and 35 years old who were currently pregnant or had a prior pregnancy (N = 351) completed an online survey. Bivariate and multivariable analyses were used to identify significant predictors of women's interest in and timing preference for CPT and ECS. Results: Most respondents reported high interest in CPT and ECS and preferred to have them when planning for a pregnancy. Perceived importance of genetic information and negative attitude towards uncertainty predicted interest in CPT and ECS in multivariable models. Genetic knowledge predicted preference for CPT or ECS when planning for a pregnancy. Conclusion: Educational and decision support tools should be developed to enhance women's knowledge and awareness of CPT and ECS and to provide them with strategies to manage uncertainty. Innovation: We examined women's timing preference for CPT and ECS and the impact of partner support and trust with gynecologist. A context-specific attitudes toward uncertainty scale was used to investigate women's particular perceptions of uncertainty in genetic testing.

Exploring the use of a Comic for Education about Expanded Carrier Screening among a Diverse Group of Mothers.

Purpose: Expanded carrier screening (ECS) during prenatal care is an important test for identifying prospective parents' risk of inherited genetic diseases. However, barriers remain for effectively educating patients about ECS. Graphic medicine (i.e. comics) has grown as a mechanism for patient education. The purpose of this study was to explore attitudes and opinions of a comic to educate about ECS during prental care. Methods: Focus groups were conducted with pregnant women or women who recently gave birth (6 groups, n=54). The participants were all female, 44.4% Latino/Hispanic, 16.7% Bi-Racial/Other, and 43.3% reporting some college education or high school degree. Results: Most participants reported high enjoyment with the comic due to their relatability to the characters, simplicity of the story, description of medical outcomes in everyday terms and the exploration of multiple outcomes possible with ECS. In addition, participants reported that during pregnancy their reading habits increase as well as emotional reactions to the content and some participants stated they avoided reading information that may cause stress or anxiety. Conclusion: More research is needed to assess what features of the comic promote understanding and how that influences decisions and pre-test patient education for ECS. The use of graphic narratives may enable individuals to better understand medical information in general.

Women's Experiences With Palliative Care During Pregnancy.

OBJECTIVE: To explore the experiences of women who received life-limiting fetal diagnoses during pregnancy and support from a perinatal palliative care program. DESIGN: Descriptive qualitative. SETTING: The perinatal palliative care program is part of a not-for-profit system of 24 hospitals serving the U.S. Intermountain West region. PARTICIPANTS: A convenience sample of 12 women who experienced pregnancies with life-limiting fetal diagnoses and received care from a perinatal palliative care program. METHODS: Women chose to participate from mailed invitations or responded to a post on private social media and then completed semistructured interviews about their experiences surrounding the fetal diagnoses and support from a perinatal palliative care program. Interviews were approximately 40 minutes in length and were conducted over the phone, recorded, and then transcribed. We performed content analysis by coding, forming categories of similar coded data, and constructing themes by recontextualizing categories through iterative, team-based meetings. RESULTS: We identified four themes from the data: Importance of Memorabilia to Cope With the Death and Documentation of Pregnancy, Acceptance of Death as Part of the Pregnancy Experience, Continued Life Without a Child, and Importance of Empathy Throughout the Process. CONCLUSION: The themes support the existing research findings about the needs of pregnant women as they cope with difficult situations. Our findings show the necessity and importance of perinatal palliative care programs.

Assessing clinical education tools for expanded carrier screening.

Expanded carrier screening (ECS) is increasingly offered to a broader population and raises challenges of how to best educate and counsel the volume of screened individuals. For this study, we compared three educational tools (brochure, video and comic) about ECS on knowledge and decision making. A convenience online sample of 151 pregnant women was randomized to one of three groups (Video, n = 42; Comic n = 54; Brochure n = 55). Knowledge scores were significantly higher for the comic group compared to the video or the brochure groups (p < .001). No significant differences in preparation for decision making, decisional conflict, or perceptions of shared decision making were identified between the study groups. This study suggests that a comic about ECS may improve patient attention and retention of information. The use of graphic narratives may enable individuals to better understand medical information in general.

The limited use of US residual newborn screening dried bloodspots for health disparity research.

PURPOSE: State-run newborn screening programs screen nearly all babies born in the United States at the time of delivery. After newborn screening has been completed, some states store the residual dried bloodspots. It is unknown how they have been used to address health disparities-related research. METHODS: In 2017-2018, a scoping review was conducted to evaluate the extent, type, and nature of how residual dried bloodspots. The review included 654 eligible publications, worldwide, published before May 2017. A post hoc analysis of the US-based studies using residual dried bloodspots (n = 192) were analyzed. RESULTS: There were 32 (16.7%) articles identified that studied a condition of a known health disparity or focused on a key population: 25 studies assessed a disease or condition, 6 expressly enrolled a key population, and 1 study included both (i.e., heart disease and African American/Black). CONCLUSION: Excluding 12 studies that researched leukemia or a brain tumor, only 20 studies addressed a known health disparity, with 6 stating a specific aim to address a health disparity. This resource could be used to gain further knowledge about health disparities, but is currently underutilized.

Deliberative Discussion Focus Groups.

This article discusses a new approach for the conduct of focus groups in health research. Identifying ways to educate and inform participants about the topic of interest prior to the focus group discussion can promote more quality data from informed opinions. Data on this deliberative discussion approach are provided from research within three federally funded studies. As healthcare continues to improve from scientific and technological advancements, educating the research participants prior to data collection about these complexities is essential to gather quality data.

Primary care providers' experiences notifying parents of cystic fibrosis newborn screening results.

This study examines primary care provider (PCP) experiences with the initial parental disclosure of cystic fibrosis (CF) newborn screening (NBS) results in order to identify methods to improve parent-provider communication during the CF NBS process. PCPs of infants who received positive CF NBS results participated in semistructured phone interviews. Interviews were analyzed using a qualitative content analysis. PCPs acknowledged the difficulty of "breaking bad news" to parents, and emphasized minimizing parental anxiety and maximizing parental understanding. PCPs used a variety of methods to notify parents, and shared varying information about the significance of the results. Variation in the method of parental notification, information discussed, and attention to parents' emotional needs may limit successful follow-up of children with positive CF NBS results. A multifaceted intervention to improve PCP knowledge, management, and communication could improve provider confidence, optimize information transfer, and minimize parental distress during the initial disclosure of CF NBS results.

Attitudes of parents of children with serious health conditions regarding residual bloodspot use.

BACKGROUND/OBJECTIVES: Studies have shown that the general public is supportive of newborn screening (NBS) and supportive of the storage and use of residual bloodspots for quality assurance and biomedical research. However, the attitudes of parents of children with serious health conditions have not been assessed. In this study, we assessed attitudes of parents with children who have phenylketonuria (PKU) and leukemia towards NBS and storage and use of residual bloodspots for research. METHODS: A total of 49 individuals were recruited and responded to a validated 41-item survey regarding NBS and the retention and use of residual bloodspots. Of these participants, 22 had a child with PKU and 27 had a child with leukemia. We compared their responses to those of 1,927 individuals from the general public obtained in a previous study using the same survey instrument. RESULTS/CONCLUSIONS: We found that parents of children with a serious health condition had higher levels of support than the general public towards the use of residual NBS samples for research but similar attitudes regarding choice and privacy protections. It is important to assess the attitudes of various stakeholders for policy development.

Patient outcomes associated with group and individual genetic counseling formats.

Identifying new methods to deliver cancer genetic counseling (GC) are needed to meet the growing interest in BRCA1/2 testing. The goal of this pilot feasibility study was designed to test the initial acceptability of group GC on selected patient outcomes (satisfaction, distress, perceived control) in a breast/ovarian cancer genetics clinic setting. Sixty-five participants at increased risk for hereditary breast/ovarian cancer (HBOC) agreed to participate in self-selected individual or group GC appointments. Forty-nine participants completed all study questionnaires and were included in the analyses. There were significant improvements for participants in both the individual and group GC formats with regard to perceived personal control, general psychological distress and cancer-specific psychological distress scores. Participants in both the individual and group formats reported high satisfaction scores on the Genetic Counseling Satisfaction Scale. Study results suggest that group GC may be feasible and acceptable to high-risk women.

Awareness and preferences regarding BRCA1/2 genetic counseling and testing among Latinas and non-Latina white women at increased risk for hereditary breast and ovarian cancer.

This study was an investigation of awareness, cognitions, and psychosocial and educational needs related to genetic counseling and testing among Latinas and non-Latina whites at increased risk for having a BRCA1/2 mutation. Sixty-three Latina and eighty-four non-Latina white women completed telephone surveys employing a mixture of quantitative and qualitative questions assessing awareness, benefits, risks, barriers, and genetic counseling communication preferences regarding BRCA1/2 testing. Among participants who had not previously had genetic counseling/testing, 56.9% of Latinas (29/51) and 34.8% of non-Latina white participants (24/69) were unaware of the availability of BRCA1/2 testing. In multivariate logistic regression analysis, Latina ethnicity was the only statistically significant independent factor associated with lack of awareness (OR = 0.42; 95% CI = 0.19-0.35). No appreciable differences were noted between ethnic groups regarding perceived benefits of BRCA1/2 testing or desired genetic counseling topics. These findings underscore the importance of increasing awareness of cancer genetic counseling and genetic testing among both Latina and non-Latina white populations.

The use of focus groups to compare tobacco attitudes and behaviors between youth in urban and rural settings.

This exploratory study uses focus groups to examine the attitudes and behaviors of male adolescent tobacco users from urban and rural settings. Five focus groups, three urban and two rural, were conducted (n = 28). Results indicate that this is an interesting topic that generated interactions and discussion among participants. Themes that have emerged from the data include the sociability of tobacco initiation and access; tobacco preferences linked to image; social norms against secondhand smoke exposure, especially around children; ambivalence toward daily use as a habit versus an addiction; and avoidance of discussing cessation. The data from this study can help health departments distinguish and target prevention and intervention programs for youth in urban and rural settings.

It's a small, small world: data collection strategies for research with children and adolescents.

This article describes methodological processes focusing on developmentally appropriate, creative data collection strategies for use with children and adolescents, illustrated from data-based research. The research reported includes adolescents' understanding of physical activity and engagement in designing a computerized questionnaire, adolescent decision making and consent to psychiatric treatment, social skills focus groups for children with behavioral disorders, and development of a longitudinal intervention study to improve the physiological-functional-psychosocial status of children with cystic fibrosis from three qualitative studies of children and adolescents with cystic fibrosis. Use of developmentally appropriate strategies is critical for successful research, contributing to our understanding of the world of children and adolescents.