Examining the communication work of women who have tested BRCA-positive: "I feel this responsibility to let people know".

Inheriting a pathogenic variant in the BRCA1 or BRCA2 gene considerably increases a woman's risk levels for developing breast and ovarian cancer. In addition to serious physical health implications, women with a BRCA pathogenic variant may face psychosocial challenges, including those related to navigating the often demanding process of communicating about topics regarding BRCA with family and other social network members. Based on in-depth interviews with 24 women who tested BRCA-positive, we found that-consistent with the conceptualization of communication work articulated by Donovan-Kicken et al. (2012) as an extension of the theory of illness trajectories (Corbin & Strauss, 1988)-the labor of communicating about BRCA genetic risk entails (a) duties, (b) challenges, (c) strategies, and (d) shared work. Within each category, our results illuminate particular characteristics of communication work for women who have tested BRCA-positive, which are commonly tied to the profound health consequences that a pathogenic variant may have for them and, potentially, for their genetic relatives. Our findings offer useful theoretical implications regarding communication work in this context. Furthermore, our results yield valuable practical insight for genetic counselors and other health care professionals regarding the struggles that can accompany communication work for women who have tested BRCA-positive as well as the strategies that participants reported using to manage or avoid these challenges.

Women's Metaphors About BRCA Gene Testing and How They Can Inform Health Communication Theory and Practice.

Genetic testing can detect whether an individual carries a harmful variant in the BRCA1 or BRCA2 (Breast Cancer 1 or 2) gene which, if present, drastically increases a woman's risk for breast and ovarian cancer. The experience of BRCA gene testing can be an emotionally laden process yielding significant uncertainty. In this study, we examined women's experiences of BRCA gene testing by exploring how participants communicatively framed and made sense of this process through the use of metaphors. Comparing uncertain and unfamiliar experiences to familiar references through metaphor can help people in challenging health-related situations with sense-making and communicating complex emotions. Furthermore, metaphors can be employed as a therapeutic tool by health care professionals, but their use has not often been studied regarding experiences of genetic testing, including BRCA gene testing. We conducted in-depth interviews with 42 women who have undergone BRCA gene testing (regardless of results), and analyzed data using constant comparative techniques. Eight categories of metaphors that women used surrounding BRCA gene testing were evident in the data, including those related to (a) knowledge is power; (b) gambling; (c) a journey; (d) a rollercoaster; (e) battle, disaster, or wreckage; (f) Pandora's box or a can of worms; (g) doom and gloom; and (h) the release or placing of a weight. Results enhance our understanding of women's experiences related to the uncertainty-inducing process of BRCA gene testing and lead to valuable theoretical implications and practical recommendations, including regarding the potential use of metaphors in patient-provider communication about BRCA genetic risk.

Non-random mating within an Island rookery of Hawaiian hawksbill turtles: demographic discontinuity at a small coastline scale.

Hawksbill sea turtles (Eretmochelys imbricata) from the Hawaiian archipelago form a small and genetically isolated population, consisting of only a few tens of individuals breeding annually. Most females nest on the island of Hawai'i, but little is known about the demographics of this rookery. This study used genetic relatedness, inferred from 135 microhaplotype markers, to determine breeding sex-ratios, estimate female nesting frequency and assess relationships between individuals nesting on different beaches. Samples were collected during the 2017 nesting season and final data included 13 nesting females and 1002 unhatched embryos, salvaged from 41 nests, of which 13 had no observed mother. Results show that most females used a single nesting beach laying 1-5 nests each. From female and offspring alleles, the paternal genotypes of 12 breeding males were reconstructed and many showed high relatedness to their mates. Pairwise relatedness of offspring revealed one instance of polygyny but otherwise suggested a 1 : 1 breeding-sex ratio. Relatedness analysis and spatial-autocorrelation of genotypes indicate that turtles from different nesting areas do not regularly interbreed, suggesting that strong natal homing tendencies in both sexes result in non-random mating across the study area. Complexes of nearby nesting beaches also showed unique patterns of inbreeding across loci, further indicating that Hawaiian hawksbill turtles have demographically discontinuous nesting populations separated by only tens of km.

Species and population specific gene expression in blood transcriptomes of marine turtles.

BACKGROUND: Transcriptomic data has demonstrated utility to advance the study of physiological diversity and organisms' responses to environmental stressors. However, a lack of genomic resources and challenges associated with collecting high-quality RNA can limit its application for many wild populations. Minimally invasive blood sampling combined with de novo transcriptomic approaches has great potential to alleviate these barriers. Here, we advance these goals for marine turtles by generating high quality de novo blood transcriptome assemblies to characterize functional diversity and compare global transcriptional profiles between tissues, species, and foraging aggregations. RESULTS: We generated high quality blood transcriptome assemblies for hawksbill (Eretmochelys imbricata), loggerhead (Caretta caretta), green (Chelonia mydas), and leatherback (Dermochelys coriacea) turtles. The functional diversity in assembled blood transcriptomes was comparable to those from more traditionally sampled tissues. A total of 31.3% of orthogroups identified were present in all four species, representing a core set of conserved genes expressed in blood and shared across marine turtle species. We observed strong species-specific expression of these genes, as well as distinct transcriptomic profiles between green turtle foraging aggregations that inhabit areas of greater or lesser anthropogenic disturbance. CONCLUSIONS: Obtaining global gene expression data through non-lethal, minimally invasive sampling can greatly expand the applications of RNA-sequencing in protected long-lived species such as marine turtles. The distinct differences in gene expression signatures between species and foraging aggregations provide insight into the functional genomics underlying the diversity in this ancient vertebrate lineage. The transcriptomic resources generated here can be used in further studies examining the evolutionary ecology and anthropogenic impacts on marine turtles.

Relational Issues Within Couples Coping With Parkinson's Disease: Implications and Ideas for Family-Focused Care.

The ways in which Parkinson's disease (PD) impacts, and is experienced by, the couple (i.e., the individual with PD and his or her spouse or other romantic partner) have not been fully elucidated. Such research is strongly warranted because when one member of a couple is chronically ill, it can cause major distress for not only the patient but also for his or her partner and their relationship. Therefore, the goal of this study was to examine how PD affects a couple's relationship. Data from 44 individual, in-depth interviews (with 21 persons with PD and 23 partners) revealed several challenges that PD commonly invokes in the patient-partner relationship, though most participants reported that PD had not decreased their overall relational closeness. The findings have significant practical implications for family-focused care.

The developmental biogeography of hawksbill sea turtles in the North Pacific.

High seas oceanic ecosystems are considered important habitat for juvenile sea turtles, yet much remains cryptic about this important life-history period. Recent progress on climate and fishery impacts in these so-called lost years is promising, but the developmental biogeography of hawksbill sea turtles (Eretmochelys imbricata) has not been widely described in the Pacific Ocean. This knowledge gap limits the effectiveness of conservation management for this globally endangered species. We address this with 30 years of stranding observations, 20 years of bycatch records, and recent simulations of natal dispersal trajectories in the Hawaiian Archipelago. We synthesize the analyses of these data in the context of direct empirical observations, anecdotal sightings, and historical commercial harvests from the insular Pacific. We find hawksbills 0-4 years of age, measuring 8-34 cm straight carapace length, are found predominantly in the coastal pelagic waters of Hawaii. Unlike other species, we find no direct evidence of a prolonged presence in oceanic habitats, yet satellite tracks of passive drifters (simulating natal dispersal) and our small sample sizes suggest that an oceanic phase for hawksbills cannot be dismissed. Importantly, despite over 600 million hooks deployed and nearly 6000 turtle interactions, longline fisheries have never recorded a single hawksbill take. We address whether the patterns we observe are due to population size and gear selectivity. Although most sea turtle species demonstrate clear patterns of oceanic development, hawksbills in the North Pacific may by contrast occupy a variety of ecosystems including coastal pelagic waters and shallow reefs in remote atolls. This focuses attention on hazards in these ecosystems - entanglement and ingestion of marine debris - and perhaps away from longline bycatch and decadal climate regimes that affect sea turtle development in oceanic regions.

Bayesian inference and assessment for rare-event bycatch in marine fisheries: a drift gillnet fishery case study.

Fisheries bycatch is a global threat to marine megafauna. Environmental laws require bycatch assessment for protected species, but this is difficult when bycatch is rare. Low bycatch rates, combined with low observer coverage, may lead to biased, imprecise estimates when using standard ratio estimators. Bayesian model-based approaches incorporate uncertainty, produce less volatile estimates, and enable probabilistic evaluation of estimates relative to management thresholds. Here, we demonstrate a pragmatic decision-making process that uses Bayesian model-based inferences to estimate the probability of exceeding management thresholds for bycatch in fisheries with < 100% observer coverage. Using the California drift gillnet fishery as a case study, we (1) model rates of rare-event bycatch and mortality using Bayesian Markov chain Monte Carlo estimation methods and 20 years of observer data; (2) predict unobserved counts of bycatch and mortality; (3) infer expected annual mortality; (4) determine probabilities of mortality exceeding regulatory thresholds; and (5) classify the fishery as having low, medium, or high bycatch impact using those probabilities. We focused on leatherback sea turtles (Dermochelys coriacea) and humpback whales (Megaptera novaeangliae). Candidate models included Poisson or zero-inflated Poisson likelihood, fishing effort, and a bycatch rate that varied with area, time, or regulatory regime. Regulatory regime had the strongest effect on leatherback bycatch, with the highest levels occurring prior to a regulatory change. Area had the strongest effect on humpback bycatch. Cumulative bycatch estimates for the 20-year period were 104-242 leatherbacks (52-153 deaths) and 6-50 humpbacks (0-21 deaths). The probability of exceeding a regulatory threshold under the U.S. Marine Mammal Protection Act (Potential Biological Removal, PBR) of 0.113 humpback deaths was 0.58, warranting a "medium bycatch impact" classification of the fishery. No PBR thresholds exist for leatherbacks, but the probability of exceeding an anticipated level of two deaths per year, stated as part of a U.S. Endangered Species Act assessment process, was 0.0007. The approach demonstrated here would allow managers to objectively and probabilistically classify fisheries with respect to bycatch impacts on species that have population-relevant mortality reference points, and declare with a stipulated level of certainty that bycatch did or did not exceed estimated upper bounds.

Psychosocial Challenges Experienced by Partners of People With Parkinson Disease.

Although researchers have examined issues related to partners providing care for a person with Parkinson disease (PWP), few have explored partners' broader psychosocial experiences. To investigate this underexplored area, individual, in-depth interviews with 23 partners of PWPs were conducted. Participants reported significant psychosocial challenges, including having the PWP withdraw from communication, being unable to "rescue" the PWP, being the recipient of the PWP's frustration, expressing impatience with the PWP, shouldering increased responsibility, being confronted with possibly losing the PWP, losing valued activities, feeling housebound, being unable to predict the PWP's daily well-being, and experiencing uncertainty about future caregiving and disease progression. These results indicate that being the partner of a PWP involves serious, complex psychosocial challenges related to both caregiving and noncaregiving issues. This research highlights the need for a family-centered approach to Parkinson care and provides valuable insight that can inform interventions and nursing practice for this population.

Managing multiple goals in supportive interactions: using a normative theoretical approach to explain social support as uncertainty management for organ transplant patients.

In this study, we used a normative theoretical perspective to examine the relationship between uncertainty management and support in the lives of organ transplant patients. We conducted in-depth interviews with 8 pretransplant and 30 posttransplant patients, including individuals who were waiting for or had received a kidney, liver, heart, or pancreas. Interview transcripts were analyzed using a grounded theory approach, which involved two levels of thematic analysis. Participants reported that others provide assistance in various ways, and that this social support entailed a number of challenges. Participants also described several strategies for handling these support dilemmas. These findings suggest that the effectiveness of support is related to how well multiple goals (including uncertainty-related goals) are managed in the supportive interaction.

Medical, personal, and social forms of uncertainty across the transplantation trajectory.

We designed this study to identify sources of uncertainty across the transplantation trajectory. We interviewed 38 transplant patients, who reported medical, personal, and social forms of uncertainty. Prior to transplantation, they reported uncertainty related to insufficient information about diagnosis, complex decisions about transplantation, unknown/unknowable organ availability, unclear expectations about medical procedures/outcomes, ambiguity in meaning of life, complex role and identity challenges, unclear financial consequences, questioning from others, and unclear relational implications. They reported that uncertainty experienced after transplantation was related to complex medication regimens, unpredictable future health/prognosis, complex role and identity challenges, unclear financial consequences, possible stigmatizing reactions, unclear relational implications, and complex interactions with the deceased donor's family. These findings lay the groundwork for additional research on uncertainty management for transplant patients, and suggest that health care professionals and supportive others cannot apply a one-size-fits-all solution when aiding in uncertainty management.