Genetic counselors' professional identity in North America: A scoping review.

Professional identity (PI) comprises attributes, beliefs, values, motives, and experiences by which people define themselves in a professional role and evolves through socialization with others in the workplace. While there have been several studies exploring the expanding roles of genetic counselors, few have specifically addressed PI. This scoping review aimed to describe the contexts in which PI has been discussed or examined in the genetic counseling literature. Articles were searched using PubMed, Scopus, and CINAHL with a priori terms including and related to PI. Articles based in the United States or Canada and of all study designs, commentaries, and speeches were included. Date of publication was not restricted. Using social identity theory (SIT) to formulate a definition of PI, multiple reviewers applied inclusion and exclusion criteria to all titles, abstracts, and full-text articles with conflicts addressed through consensus among all reviewers. A total of 5523 titles and/or abstracts were screened, and 467 full-text articles were evaluated and categorized as (1) focusing on PI specifically, (2) containing elements of PI although focused on another topic, or (3) not related to PI. Eighty-seven (87) articles were reviewed during the extraction phase. Ultimately, 41 articles were deemed to meet the agreed upon characteristics of PI. While empirical studies of PI among genetic counselors were limited, PI is being addressed in research focused on related areas, including professional development and diversity, equity, and inclusion, as well as in personal accounts, addresses, and commentaries. Sentiments regarding PI voiced by genetic counselors align with those reported among other health professionals. Given the lack of diversity in the field and rapidly expanding opportunities for genetic counselors, there is risk of some members of the profession feeling excluded, which in turn could negatively impact the collective identity of the profession and translate into impacts on patient care. Additional research regarding the PI of genetic counselors is needed.

Parental questions about sex chromosome aneuploidies regarding sex, gender, and sexual orientation as reported by genetic counselors in a prenatal setting.

The introduction of cell-free DNA screening has resulted in increased prenatal identification of sex chromosome aneuploidies (SCAs). This study aimed to evaluate genetic counselor experiences disclosing SCAs positive prenatal screening or testing results and genetic counselor-reported parental questions regarding sex, gender, and sexual orientation. Forty-eight prenatal genetic counselors completed the survey. When asked to quantify their experiences, 97.9% of counselors reported disclosing a SCAs positive screen result within the previous year, and 81.3% disclosed a diagnostic result. Of those counselors, 53.8% reported always or often receiving parental questions about sex, 33% always or often about gender, and 25% always or often regarding sexual orientation. Counselors were asked to share examples of parental questions following a positive screen or diagnostic testing for SCAs. Parental questions were stratified by karyotype and content analysis revealed questions about the fetus' sex, anatomy, reproduction, being cisgender, gender expression, behavior, being transgender, and sexual orientation. The examples of parental questions provided by genetic counselors suggested some parents may have misconceptions about the intersection of SCAs with sex, gender, and sexual orientation following prenatal screening or diagnostic testing. The majority of counselors (83.3%) agreed to some extent that they desired further education on responding to parental questions about SCAs. Findings from this research suggest a need for genetic counseling strategies that accurately and respectfully discuss SCAs in the context of sex, gender, and sexual orientation with prenatal patients.

The State of National Institute of Health Awards for funding genetic counseling research, resources, and training over the past decade.

Research related to the practice of genetic counseling has historically been accomplished through student projects, small private grants, or as a part of a larger research study. Yet, recent initiatives supported by the National Society of Genetic Counselors and the National Human Genome Research Institute have recognized and promoted the need for additional genetic counseling research funding and training. In this study, we aimed to characterize awards from the United States' National Institutes of Health (NIH) over the past 10 years that support research related to genetic counseling. A search of the NIH RePORTER database conducted on April 25, 2022, using terms broadly related to genetic counseling, identified 3993 awards from fiscal years 2011 to 2022. After deduplication, 1231 grants were reviewed for screening. The final dataset included 43 awards of various types with the majority being research or R series grants [R01 (n = 17), R21 (n = 7)]. The remaining awards were Cooperative Agreements (U01, n = 6), intramural (Z-grants, n = 5), Center Core (P30, n = 2), Specialized Center (P50, n = 1), Career Development Award (K01, n = 1), Other Transactions (OT2, n = 1), Resource Program (G13, n = 1), and Research Training and Fellowship (T32, n = 1). Most grants were awarded between 2019 and 2022 (n = 24, 55.8%). The majority of awards were categorized as studies that included a comparison of different genetic counseling models (n = 23), outcomes of implementing genetic counseling (n = 11), core resources for genetic counselors (n = 5), and genetic counseling training programs (n = 4). Thirteen of the awards (30.2%) had a specific aim/goal/focus on underserved or underrepresented populations. The topics were predominantly related to cancer (n = 26). Nine awards were led or co-led by a genetic counselor (20.9%). Despite significant growth in genetic counseling research support from US-based funders over the past 3 years, major gaps related to funding exist, including that most award recipients are not genetic counselors.

Graduate training, credentialing, and continuing education to prepare genetic counselors for laboratory roles-Results of a national survey.

Opportunities for genetic counselors to work in a variety of practice settings have greatly expanded, particularly in the laboratory. This study aimed to assess attitudes of genetic counselors working both within and outside of the laboratory setting regarding (1) the re-wording and/or expansion of key measures of genetic counselors' competency, including practice-based competencies (PBCs) and board examination, to include laboratory roles, (2) preparation and transferability of competencies developed in master's in genetic counseling (MGC) programs to different roles, (3) need of additional training for genetic counselors to practice in laboratory settings, and (4) preferred methods to obtain that training. An e-blast was sent to ABGC diplomats (N = 5458) with a link to a 29-item survey with 12 demographic questions to compare respondents to 2021 NSGC Professional Status Survey (PSS) respondents. Statistical comparisons were made between respondents working in the laboratory versus other settings. Among 399 responses received, there was an oversampling of respondents working in the laboratory (52% vs. 20% in PSS) and in non-direct patient care positions (47% vs. 25% in PSS). Most respondents agreed the PBCs were transferable to their work yet favored making the PBCs less direct patient care-focused, expanding PBCs to align with laboratory roles, adding laboratory-focused questions to the ABGC exam, and adding laboratory-focused training in MGC programs. Most agreed requiring post-MGC training would limit genetic counselors' ability to change jobs. Genetic counselors working in the laboratory reported being significantly less prepared by their MGC program for some roles (p < 0.001) or how the PBCs applied to non-direct patient care positions (p < 0.001). Only 53% of all respondents agreed that NSGC supports their professional needs and others in their practice area, and genetic counselors working in the laboratory were significantly less likely to agree (p = 0.002). These sentiments should be further explored.

Iron colloids dominate sedimentary supply to the ocean interior.

Dissolution of marine sediment is a key source of dissolved iron (Fe) that regulates the ocean carbon cycle. Currently, our prevailing understanding, encapsulated in ocean models, focuses on low-oxygen reductive supply mechanisms and neglects the emerging evidence from iron isotopes in seawater and sediment porewaters for additional nonreductive dissolution processes. Here, we combine measurements of Fe colloids and dissolved δ56Fe in shallow porewaters spanning the full depth of the South Atlantic Ocean to demonstrate that it is lithogenic colloid production that fuels sedimentary iron supply away from low-oxygen systems. Iron colloids are ubiquitous in these oxic ocean sediment porewaters and account for the lithogenic isotope signature of dissolved Fe (δ56Fe = +0.07 ± 0.07‰) within and between ocean basins. Isotope model experiments demonstrate that only lithogenic weathering in both oxic and nitrogenous zones, rather than precipitation or ligand complexation of reduced Fe species, can account for the production of these porewater Fe colloids. The broader covariance between colloidal Fe and organic carbon (OC) abundance suggests that sorption of OC may control the nanoscale stability of Fe minerals by inhibiting the loss of Fe(oxyhydr)oxides to more crystalline minerals in the sediment. Oxic ocean sediments can therefore generate a large exchangeable reservoir of organo-mineral Fe colloids at the sediment water interface (a "rusty source") that dominates the benthic supply of dissolved Fe to the ocean interior, alongside reductive supply pathways from shallower continental margins.

'They don't think I can do it': Experiences of self-advocates, employment specialists, and employers on employment of adults with intellectual disability.

BACKGROUND: A multi-phase Canadian study was conducted as part of a large-scale community and academic research partnership focused on understanding and improving the employment experiences of people with intellectual disabilities. METHOD: This multi-method study utilized a sequential approach, using findings from qualitative interviews (n = 28) to inform an online survey (n = 149). Participants were invited to share their experiences with paid employment or with persons with intellectual disabilities. RESULTS: Thematic analysis of data across interview and survey findings resulted in six themes: (1) assumptions and attitudes, (2) knowledge and awareness, (3) accessibility of processes, (4) use of accommodations, (5) workplace relationships, and (6) supports and resources. CONCLUSIONS: A holistic and systemic approach has the potential to improve inclusive employment experiences of people with intellectual disabilities. Action is needed mainly at the policy and employer level to reduce barriers and improve on facilitating measures reinforced by the themes shared in this study.

Disclosure and comfort during genetic counseling sessions with LGBTQ+ patients: An updated assessment.

Disclosure is the act of sharing a stigmatized identity, and members of the LGBTQ+ community make decisions related to disclosure multiple times throughout their life. Disclosure in medical settings can impact perceptions of care and outcomes for LGBTQ+ patients; however, little is understood about the process of decision-making regarding disclosure in the genetic counseling setting. As such, this study aimed to explore LGBTQ+ experiences in genetic counseling sessions and their disclosure behaviors. Fifty-five LGBTQ+ individuals who attended a genetic counseling session and 91 genetic counselors completed online surveys. The patient survey assessed for disclosure behaviors, experiences of discrimination, and comfort in genetic counseling sessions. The counselor survey evaluated comfort with the LGBTQ+ population in a counseling setting, whether counselors facilitate disclosure in sessions, and whether counseling is tailored for the LGBTQ+ population. Eighty-two percent of genetic counselors "rarely" or "never" ask about sexual orientation, and 69% "rarely" or "never" ask about gender identity. The majority of patients indicated they were not asked about their sexual orientation (87%) or gender identity (80%). Some patients reported experiencing discrimination or homo/transphobia in their genetic counseling sessions, with 6.12% of LGBQ+ patients experiencing discrimination and 24.1% of trans+ patients reporting discrimination. Over half of genetic counselors reported receiving training in LGBTQ+ healthcare and the majority reported comfort with providing care to LGBTQ+ patients. However, discrepancies between patient-reported experiences and genetic counselors' descriptions of their care for the LGBTQ+ population warrant further research and suggest additional training or changes in practice may be necessary.

Something to chat about: An analysis of genetic counseling via asynchronous messaging following direct-to-consumer genetic testing.

Advances in technology, decreasing cost of genetic testing, and growing public interest in genetics marked by an increased uptake of genetic testing, particularly direct-to-consumer genetic testing (DTC-GT), have led to an overwhelming demand for genetic counseling services. As such, various alternative service delivery models have been proposed to increase access to genetic counseling. Some service delivery models, such as asynchronous messaging, remain unexplored in the genetic counseling literature. The purpose of this study was to assess communication during genetic counseling for DTC-GT through asynchronous messaging. A thematic analysis was conducted on 34 de-identified chat transcripts between genetic counselors and clients who underwent DTC-GT. Six categories of communication were identified and were grouped based on communication sources from either the client or the genetic counselor. Categories observed in client communication were motivations for seeking DTC testing and/or genetic counseling services, questions posed to the genetic counselor, responses provided during the session, and psychosocial aspects of the session related to the clients' mental, emotional, social, and spiritual needs. Categories of communication that emerged from the genetic counselors' communications were educational aspects of the session and counseling strategies to address concerns that are not related to educational or informational needs. Most clients had specific questions about variants detected or specific conditions. Many clients asked about appropriate subsequent steps related to additional testing or medical management. Genetic counselors discussed the limitations of DTC-GT and recommendations for clinical grade testing in almost all chat transcripts. In several chats, the genetic counselor provided advice to the client related to minimizing time sorting through likely benign results and refraining from altering medical management. Results suggest that genetic counselors are able to provide genetic information to clients and respond to their mental and emotional needs through asynchronous chat following DTC-GT. Findings from this study provide initial insight into a unique genetic counseling delivery model and reveal the informational and counseling needs of clients following DTC-GT.

Critical components of genomic medicine practice for non-genetics healthcare professionals: Genetic counselors' perspectives and implications for medical education.

Genetic services are increasingly provided by non-genetics healthcare professionals (NGHPs) with minimal formal training in genetics/genomics. Research demonstrates gaps in knowledge and clinical practices in genetics/genomics among NGHPs, but there is a lack of consensus on the specific knowledge needed by NGHPs to effectively provide genetic services. As clinical genetics professionals, genetic counselors (GCs) have insight into the critical components of genetics/genomics knowledge and practices needed by NGHPs. This study explored GCs' beliefs regarding whether NGHPs should provide genetic services and identified GCs' perceptions of the components of knowledge and clinical practice in genetics/genomics that are most critical for NGHPs providing genetic services. Two hundred and forty GCs completed an online quantitative survey with 17 participating in a follow-up qualitative interview. Descriptive statistics and cross-comparisons were generated for survey data. Interview data were analyzed using an inductive qualitative method for cross-case analysis. Most GCs disagreed with NGHPs providing genetic services, but beliefs varied widely, ranging from disagreement due to perceived gaps in knowledge or clinical skills to acceptance of NGHPs providing genetic services due to limited access to genetics professionals. Across survey and interview data, GCs endorsed the interpretation of genetic test results, understanding implications of results, collaboration with genetics professionals, knowledge of the risks and benefits to testing, and recognizing indications for genetic testing as critical components of knowledge and clinical practice for NGHPs. Several recommendations for improving the provision of genetic services were provided by respondents including educating NGHPs to provide genetic services through case-based continuing medical education and increasing collaboration between NGHPs and genetics professionals. As GCs are healthcare providers with experience and vested interests in educating NGHPs, their perspectives can help inform the creation of continuing medical education to ensure patients' access to high-quality genomic medicine care from providers of varying backgrounds.

Group meditation, addressing stigma, and "mental health days": Recommendations for integrating self-awareness practices into genetic counseling graduate programs.

Genetic counseling graduate programs provide a rigorous curriculum comprised of coursework encompassing counseling and medical genetics, fieldwork, and research experience. Students face similar emotional and mental demands as practicing genetic counselors while also experiencing stressors commonly associated with graduate study. Increased self-awareness may help combat these stressors. This mixed-methods study surveyed 154 genetic counseling graduate students to determine the types of self-awareness practices they would like to have included in their graduate training and surveyed 11 program faculty regarding the feasibility of implementing these practices. The students' most preferred practices were self-reflection (n = 73, 47.4%), support from peers, colleagues, and/or supervisors (n = 71, 46.1%), and mental health counseling (n = 71, 46.1%). Analysis of responses to open-ended questions capturing students' recommendations for programs yielded six recurrent themes: (1) Consistent, Structured Practice with Accountability, (2) Emphasis on Mental Health, (3) Practical Techniques, (4) Access to Resources, (5) Encouragement and Support, and (6) Barriers to Implementation. Many students suggested that programs should incorporate repetitive exercises that could be implemented on a schedule with an emphasis on consistency (Theme 1). Students also emphasized the importance of providing exposure to multiple examples of self-awareness practices, so they could find an approach that was most beneficial on an individual basis (Theme 3). These findings were shared with program faculty via a presentation at the Association for Genetic Counseling Program Directors annual meeting, and attendees were subsequently surveyed regarding self-awareness practices currently integrated into their curriculum, as well as the feasibility and likelihood of integrating new practices. Program faculty respondents indicated that most of the recommended practices were included in their curriculum already or would be feasible and likely to incorporate. These results provide insight into the attitudes of genetic counseling students toward structured practice in self-awareness and how genetic counseling graduate programs might integrate such practices into the curriculum.

Need for additional training to be a laboratory genetic counselor-A qualitative exploration.

Opportunities for genetic counselors to work in the laboratory have grown exponentially, yet the professional development needed to serve in these roles had not been previously explored. This study aimed to identify competencies required for entry-level genetic counselors working in the laboratory, explore the perceived level of preparation of these competencies as noted by experts in the laboratories, and assess the perceived value of additional credentialing for genetic counselors practicing in these settings. Twenty genetic counselors working in the laboratory setting and five MD or PhD laboratory managers, identified through purposeful and snowball sampling and with at least 5 years of experience working in a laboratory, were interviewed using a semi-structured protocol. Transcripts were analyzed thematically using deductive and inductive coding. Key findings included the distinction of laboratory and industry roles as involving nondirect patient care and differing from genetic counseling roles in the clinical setting. Genetic counselors working in the laboratory feel well prepared to transition into this setting and provide a unique patient-focused perspective to laboratory roles, including variant interpretation, marketing, and product development. Practice-based competencies (PBCs) were translatable to those used in the laboratory, yet variant interpretation, limitations of genomics-based tests, and the business of health care were noted as important to these roles but not fully addressed in the PBCs. Additional skills were often developed through on-the-job training and interdisciplinary collaboration, but more exposure to diverse roles in genetic counseling programs' didactic and field training was recommended. The majority felt that requiring an additional post-master's credential to work in the laboratory setting may restrict movement into these roles. Several questioned their identity as genetic counselors as they were no longer providing direct patient care and/or had been dissuaded by others from pursuing a laboratory position. Research focused on professional identity among genetic counselors working in nondirect patient care roles is warranted.

Genetic counseling graduate program faculty perspectives on sharing education materials among programs.

Rapid advancements in genetics care requires responsive genetic counseling (GC) training capable of integrating new discoveries and practice into their curricula. The utilization of shared or standardized educational resources may address this need. Recognizing the potential of shared resources, the Pharmacogenetics (PGx) Working Group of the NSGC Precision Medicine Special Interest Group (SIG) launched a standardized education module using a flipped-classroom format to provide all GC programs equal access to PGx expertise and alleviate the burden of curriculum development. Following the initial success of the program, we aimed to explore the utilization of shared and standardized education resources more broadly, and better understand the perspectives of GC program faculty regarding their use. Twenty-nine program faculty representing at least 14 programs responded to an online survey. The majority (n = 21) reported sharing educational materials with another GC program, and 90% of those reported the shared materials to be beneficial as they promote collaboration, efficiency, address a gap in content, and provide access to experts. Similar benefits were described when using a standardized curriculum, which was defined as standardized lectures and activities created about a particular topic and made available to all genetic counseling programs; 16 participants indicated they would be very likely or likely to use a standardized curriculum. A secondary aim of the survey was to assess the existing PGx module that utilizes a flipped-classroom format. Overall, the PGx module was well received, indicating that a standardized shared module is well-suited for instruction on emerging and specialty topics. All participants believed the flipped-classroom format to be very or somewhat beneficial. In summary, results indicate that shared educational materials, including standardized education modules, are a potential solution to challenges related to efficiency and access to content experts in GC education, and program leadership is receptive to using them.

Building a foundation in self-awareness: Genetic counseling students' experiences with self-care, reflection, and mindfulness.

Stress and anxiety are significant concerns for practicing genetic counselors as well as genetic counseling students and can have downstream effects on patient care. Prior research suggests graduate-level training in self-awareness practices such as self-care, reflection, and mindfulness could have lasting effects for genetic counselors, their patients, and the profession as a whole. This mixed-methods study assessed self-awareness among 154 genetic counseling graduate students using the Self-Reflection and Insight Scale (SRIS), the Mindfulness Attention Awareness Scale (MAAS), and self-described experiences with self-awareness practice. Genetic counseling students had significantly lower mean scores on the MAAS and the Insight subscale of the SRIS compared with other health professionals, indicating that genetic counseling students have lower levels of mindfulness and may lack insight into their thoughts and feelings. After starting genetic counseling graduate programs, students were more likely to reduce participation in active self-awareness practices such as physical activity and mental health counseling. Most students reported having structured practice in self-care (n = 97, 63%), reflection (n = 125, 81.2%), and mindfulness (n = 77, 50%) as a part of their training programs. Second-year genetic counseling students reporting mindfulness practices had significantly higher scores on the Insight subscale of the SRIS than those who did not, indicating that students engaged in mindfulness practice are better able to understand their thoughts, feelings, and behavior. The majority of students reported benefitting from structured practice in self-care (n = 63, 64.9%), reflection (n = 101, 80%), and mindfulness (n = 54, 70.1%). Open-ended responses regarding students' perceived benefits and limitations of structured practice were analyzed for recurrent themes. Students reported improved self-awareness which enhanced their counseling relationships during clinical rotations. However, they also perceived that implementation of self-awareness practices may have been inconsistent. Findings from this study have implications for integrating self-awareness practices into genetic counseling graduate curriculum.

Seroprevalence of Severe Acute Respiratory Syndrome Coronavirus 2 IgG in Juba, South Sudan, 20201.

Relatively few coronavirus disease cases and deaths have been reported from sub-Saharan Africa, although the extent of its spread remains unclear. During August 10-September 11, 2020, we recruited 2,214 participants for a representative household-based cross-sectional serosurvey in Juba, South Sudan. We found 22.3% of participants had severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) receptor binding domain IgG titers above prepandemic levels. After accounting for waning antibody levels, age, and sex, we estimated that 38.3% (95% credible interval 31.8%-46.5%) of the population had been infected with SARS-CoV-2. At this rate, for each PCR-confirmed SARS-CoV-2 infection reported by the Ministry of Health, 103 (95% credible interval 86-126) infections would have been unreported, meaning SARS-CoV-2 has likely spread extensively within Juba. We also found differences in background reactivity in Juba compared with Boston, Massachusetts, USA, where the immunoassay was validated. Our findings underscore the need to validate serologic tests in sub-Saharan Africa populations.

Genetic counselor experiences with telehealth before and after COVID-19.

While genetic counselor (GC) utilization of telehealth has increased in recent years, the onset of the COVID-19 pandemic significantly accelerated the adoption of telehealth for many. We investigated GC experiences with telehealth including perceived advantages, disadvantages, and barriers using a one-time online survey of GCs who provided direct patient care in recent years. The survey examined experiences with telehealth before and after the onset of COVID-19. We made broad comparisons to findings from a similar study our research team conducted five years ago. GCs reported an increase in the utilization of telehealth over time, with significant increases from pre-2017 (44%) to pre-COVID-19 (70%) and then to present (87%) (p<.001 and .02, respectively). There was no significant change in the total number of hours worked from pre-COVID-19 to the time of survey completion, nor were there significant changes in the amount of time spent on clinical responsibilities or interfacing with patients. However, the total number of hours worked in telehealth significantly increased (z = 5.05, p<.001) as did the percent of time spent interacting with patients via telehealth [t(72)=3.74, p<.001, d = 0.44]. Participants overwhelmingly preferred video (84%) over telephone; this differs from our previous survey where video was the preferred modality for 59% (p<.001). We utilized open-ended questions to elicit reasons for modality preference. The most-cited barrier to telehealth utilization was billing/reimbursement issues, with 39% noting this obstacle. This is consistent with our previous study where 30% cited billing/reimbursement as the primary barrier. These findings indicate a need for continued efforts to improve billing and reimbursement for genetic counseling offered via telehealth. They also present an opportunity for additional exploration regarding patient preferences for telehealth modality.

Lipidomics of Thalassiosira pseudonana under Phosphorus Stress Reveal Underlying Phospholipid Substitution Dynamics and Novel Diglycosylceramide Substitutes.

Phytoplankton replace phosphorus-containing lipids (P-lipids) with non-P analogues, boosting growth in P-limited oceans. In the model diatom Thalassiosira pseudonana, the substitution dynamics of lipid headgroups are well described, but those of the individual lipids, differing in fatty acid composition, are unknown. Moreover, the behavior of lipids outside the common headgroup classes and the relationship between lipid substitution and cellular particulate organic P (POP) have yet to be reported. We investigated these through the mass spectrometric lipidomics of P-replete (P+) and P-depleted (P-) T. pseudonana cultures. Nonlipidic POP was depleted rapidly by the initiation of P stress, followed by the cessation of P-lipid biosynthesis and per-cell reductions in the P-lipid levels of successive generations. Minor P-lipid degradative breakdown was observed, releasing P for other processes, but most P-lipids remained intact. This may confer an advantage on efficient heterotrophic lipid consumers in P-limited oceans. Glycerophosphatidylcholine (PC), the predominant P-lipid, was similar in composition to its betaine substitute lipid. During substitution, PC was less abundant per cell and was more highly unsaturated in composition. This may reflect underlying biosynthetic processes or the regulation of membrane biophysical properties subject to lipid substitution. Finally, levels of several diglycosylceramide lipids increased as much as 10-fold under P stress. These represent novel substitute lipids and potential biomarkers for the study of P limitation in situ, contributing to growing evidence highlighting the importance of sphingolipids in phycology. These findings contribute much to our understanding of P-lipid substitution, a powerful and widespread adaptation to P limitation in the oligotrophic ocean.IMPORTANCE Unicellular organisms replace phosphorus (P)-containing membrane lipids with non-P substitutes when P is scarce, allowing greater growth of populations. Previous research with the model diatom species Thalassiosira pseudonana grouped lipids by polar headgroups in their chemical structures. The significance of the research reported here is threefold. (i) We described the individual lipids within the headgroups during P-lipid substitution, revealing the relationships between lipid headgroups and hinting at the underlying biochemical processes. (ii) We measured total cellular P, placing P-lipid substitution in the context of the broader response to P stress and yielding insight into the implications of substitution in the marine environment. (iii) We identified lipids previously unknown in this system, revealing a new type of non-P substitute lipid, which is potentially useful as a biomarker for the investigation of P limitation in the ocean.

Killer Cell Lectin-like Receptor G1 Inhibits NK Cell Function through Activation of Adenosine 5'-Monophosphate-Activated Protein Kinase.

NK cells are the first line of defense against infected and transformed cells. Defective NK cell activity was shown to increase susceptibility for viral infections and reduce tumor immune-surveillance. With age, the incidence of infectious diseases and malignancy rises dramatically, suggesting that impaired NK cell function might contribute to disease in these individuals. We found an increased frequency of NK cells with high expression of the inhibitory killer cell lectin-like receptor G1 (KLRG1) in individuals >70 y. The role of KLRG1 in ageing is not known, and the mechanism of KLRG1-induced inhibition of NK cell function is not fully understood. We report that NK cells with high KLRG1 expression spontaneously activate the metabolic sensor AMP-activated protein kinase (AMPK) and that activation of AMPK negatively regulates NK cell function. Pre-existing AMPK activity is further amplified by ligation of KLRG1 in these cells, which leads to internalization of the receptor and allows interaction with AMPK. We show that KLRG1 activates AMPK by preventing its inhibitory dephosphorylation by protein phosphatase-2C rather than inducing de novo kinase activation. Finally, inhibition of KLRG1 or AMPK prevented KLRG1-induced activation of AMPK and reductions in NK cell cytotoxicity, cytokine secretion, proliferation, and telomerase expression. This novel signaling pathway links metabolic sensing, effector function, and cell differentiation with inhibitory receptor signaling that may be exploited to enhance NK cell activity during ageing.

Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing.

Currently, there are limited data regarding the practice of genetic counseling for whole exome sequencing (WES). Improved understanding of how genetic counselors and other providers are educating, counseling, and communicating results may identify practice trends, and patient or provider needs. Between April 2013 and December 2014, we surveyed providers who ordered WES testing from GeneDx, a CLIA-certified laboratory. Forty-nine respondents completed the survey; 41 % of participants reported board certification in genetic counseling. Pre-test and post-test counseling was completed in all but one case each. Pre-test counseling lasted less than 1 h for 53 % of cases and 1 to 2 h for 43 %. Topics discussed with all patients included consent for testing, and incidental findings; other topics were variable. In contrast to pre-test counseling, 59 % reported post-test counseling lasting 1 to 2 h and 33 % less than an hour; post-testing counseling was significantly longer in cases with a definitive diagnosis than those without (p = 0.0129). The survey findings indicate some variability regarding the amount of time spent on counseling and the topics discussed during pre-test counseling. Additional exploration, patient and provider educational resources, and potentially more specific guidelines regarding counseling for WES may be warranted.

A chemosynthetic weed: the tubeworm Sclerolinum contortum is a bipolar, cosmopolitan species.

BACKGROUND: Sclerolinum (Annelida: Siboglinidae) is a genus of small, wiry deep-sea tubeworms that depend on an endosymbiosis with chemosynthetic bacteria for their nutrition, notable for their ability to colonise a multitude of reducing environments. Since the early 2000s, a Sclerolinum population has been known to inhabit sediment-hosted hydrothermal vents within the Bransfield Strait, Southern Ocean, and whilst remaining undescribed, it has been suggested to play an important ecological role in this ecosystem. Here, we show that the Southern Ocean Sclerolinum population is not a new species, but more remarkably in fact belongs to the species S. contortum, first described from an Arctic mud volcano located nearly 16,000 km away. RESULTS: Our new data coupled with existing genetic studies extend the range of this species across both polar oceans and the Gulf of Mexico. Our analyses show that the populations of this species are structured on a regional scale, with greater genetic differentiation occurring between rather than within populations. Further details of the external morphology and tube structure of S. contortum are revealed through confocal and SEM imaging, and the ecology of this worm is discussed. CONCLUSIONS: These results shed further insight into the plasticity and adaptability of this siboglinid group to a range of reducing conditions, and into the levels of gene flow that occur between populations of the same species over a global extent.

The discovery of new deep-sea hydrothermal vent communities in the southern ocean and implications for biogeography.

Since the first discovery of deep-sea hydrothermal vents along the Galápagos Rift in 1977, numerous vent sites and endemic faunal assemblages have been found along mid-ocean ridges and back-arc basins at low to mid latitudes. These discoveries have suggested the existence of separate biogeographic provinces in the Atlantic and the North West Pacific, the existence of a province including the South West Pacific and Indian Ocean, and a separation of the North East Pacific, North East Pacific Rise, and South East Pacific Rise. The Southern Ocean is known to be a region of high deep-sea species diversity and centre of origin for the global deep-sea fauna. It has also been proposed as a gateway connecting hydrothermal vents in different oceans but is little explored because of extreme conditions. Since 2009 we have explored two segments of the East Scotia Ridge (ESR) in the Southern Ocean using a remotely operated vehicle. In each segment we located deep-sea hydrothermal vents hosting high-temperature black smokers up to 382.8°C and diffuse venting. The chemosynthetic ecosystems hosted by these vents are dominated by a new yeti crab (Kiwa n. sp.), stalked barnacles, limpets, peltospiroid gastropods, anemones, and a predatory sea star. Taxa abundant in vent ecosystems in other oceans, including polychaete worms (Siboglinidae), bathymodiolid mussels, and alvinocaridid shrimps, are absent from the ESR vents. These groups, except the Siboglinidae, possess planktotrophic larvae, rare in Antarctic marine invertebrates, suggesting that the environmental conditions of the Southern Ocean may act as a dispersal filter for vent taxa. Evidence from the distinctive fauna, the unique community structure, and multivariate analyses suggest that the Antarctic vent ecosystems represent a new vent biogeographic province. However, multivariate analyses of species present at the ESR and at other deep-sea hydrothermal vents globally indicate that vent biogeography is more complex than previously recognised.