A study of elective genome sequencing and pharmacogenetic testing in an unselected population

BACKGROUND: Genome sequencing (GS) of individuals without a medical indication, known as elective GS, is now available at a number of centers around the United States. Here we report the results of elective GS and pharmacogenetic panel testing in 52 individuals at a private genomics clinic in Alabama. METHODS: Individuals seeking elective genomic testing and pharmacogenetic testing were recruited through a private genomics clinic in Huntsville, AL. Individuals underwent clinical genome sequencing with a separate pharmacogenetic testing panel. RESULTS: Six participants (11.5%) had pathogenic or likely pathogenic variants that may explain one or more aspects of their medical history. Ten participants (19%) had variants that altered the risk of disease in the future, including two individuals with clonal hematopoiesis of indeterminate potential. Forty-four participants (85%) were carriers of a recessive or X-linked disorder. All individuals with pharmacogenetic testing had variants that affected current and/or future medications. CONCLUSION: Our study highlights the importance of collecting detailed phenotype information to interpret results in elective GS

Transgender and Gender Nonconforming Youths’ Public Facilities Use and Psychological Well-Being: A Mixed-Method Study

Purpose: In this study, we explored experiences and feelings of safety in public facilities in relation to psychological well-being among transgender and gender nonconforming (TGNC) youth in the Midwest in the summer of 2016, in the context of ongoing legislative proposals and regulations regarding school and public bathroom use in the United States. Methods: We used a mixed-method approach, with (1) a self-administered, paper-and-pencil survey of 120 TGNC youth, focusing on differences of self-esteem, resilience, quality of life (QoL), perceived stigma, feelings of safety, and experiences of public facility use and (2) two focus group interviews (n = 9) in which TGNC youth discussed individual perceptions, attitudes, and experiences of bathroom use outside participants’ homes. The samples consisted predominantly of individuals assigned female at birth and currently of trans-masculine identity. Results: TGNC youth in our sample who reported that they had felt unsafe in bathrooms due to appearance or gender identity had significantly lower levels of resilience (mean(felt safe) = 125.7 vs. mean(felt unsafe) = 116.1; p = 0.03, Cohen’s d = 0.44) and QoL (mean(felt safe) = 59.1 vs. mean(felt unsafe) = 51.9; p = 0.04, Cohen’s d = 0.39), compared to those who felt safe. Meanwhile, feeling unsafe in bathrooms was associated with a greater level of perceived LGBT stigma (mean(felt safe) = 2.3 vs. mean(felt unsafe) = 2.6; p = 0.03, Cohen’s d = 0.41) and problematic anxiety in the past year (2 (1) = 4.06; p = 0.04). Individuals in the focus groups provided specific examples of their experiences of and concerns about locker room or bathroom use in public facilities, and on the impact of school bathroomrelated policies and legislation on them. Conclusion: Perceptions of safety related to bathroom use are related to psychological well-being among TGNC youth. Our predominantly trans-masculine youth sample indicated that choice of bathroom and locker room use is important and that antiharassment policies need to support students’ use of their choice of bathrooms. This is particularly important information given debate of so-called bathroom bills, which attempt to restrict public bathroom use for TGNC youth, creating less choice and more stress and fear among these individuals

Transgender and Gender Nonconforming Youths’ Public Facilities Use and Psychological Well-Being: A Mixed-Method Study

Purpose: In this study, we explored experiences and feelings of safety in public facilities in relation to psychological well-being among transgender and gender nonconforming (TGNC) youth in the Midwest in the summer of 2016, in the context of ongoing legislative proposals and regulations regarding school and public bathroom use in the United States. Methods: We used a mixed-method approach, with (1) a self-administered, paper-and-pencil survey of 120 TGNC youth, focusing on differences of self-esteem, resilience, quality of life (QoL), perceived stigma, feelings of safety, and experiences of public facility use and (2) two focus group interviews (n = 9) in which TGNC youth discussed individual perceptions, attitudes, and experiences of bathroom use outside participants’ homes. The samples consisted predominantly of individuals assigned female at birth and currently of trans-masculine identity. Results: TGNC youth in our sample who reported that they had felt unsafe in bathrooms due to appearance or gender identity had significantly lower levels of resilience (mean(felt safe) = 125.7 vs. mean(felt unsafe) = 116.1; p = 0.03, Cohen’s d = 0.44) and QoL (mean(felt safe) = 59.1 vs. mean(felt unsafe) = 51.9; p = 0.04, Cohen’s d = 0.39), compared to those who felt safe. Meanwhile, feeling unsafe in bathrooms was associated with a greater level of perceived LGBT stigma (mean(felt safe) = 2.3 vs. mean(felt unsafe) = 2.6; p = 0.03, Cohen’s d = 0.41) and problematic anxiety in the past year (w2 (1) = 4.06; p = 0.04). Individuals in the focus groups provided specific examples of their experiences of and concerns about locker room or bathroom use in public facilities, and on the impact of school bathroomrelated policies and legislation on them. Conclusion: Perceptions of safety related to bathroom use are related to psychological well-being among TGNC youth. Our predominantly trans-masculine youth sample indicated that choice of bathroom and locker room use is important and that antiharassment policies need to support students’ use of their choice of bathrooms. This is particularly important information given debate of so-called bathroom bills, which attempt to restrict public bathroom use for TGNC youth, creating less choice and more stress and fear among these individuals

Learning from Transmasculine Experiences with Health Care: Tangible Inlets for Reducing Health Disparities through Patient-Provider Relationships

Purpose: We examined health care experiences of transmasculine young adults to clarify factors contributing to mistrust in the health care system and identify tangible and modifiable means to address health disparities through improved patient-provider interactions. Thematic analysis highlights patterns within historical relationships between medical models and transmasculine embodiment, and provides guidance for health care clinicians, researchers, and policy makers to deliver competent services for transgender and gender diverse (TGD) individuals. Methods: The study team used qualitative methodology guided by interpretive phenomenological analysis. Semistructured interviews with 12 participants who self-identified as transmasculine were conducted, transcribed, and coded thematically. Results: Participants were a community sample of 12 young adults 18-35 years of age (M=23, standard deviation=3.74), who self-identified as transmasculine. Three participants identified as a racial/ethnic minority. Participants were highly educated, with most completing at least some college. The superordinate thematic domain Perspectives on Health Care emerged, under which three subthemes were nested: (1) an essentialist, binary medical model is inaccurate and oppressive, (2) consequences of medicalizing gender (i.e., gender as a diagnosis), and (3) recommendations to improve health care. Conclusions: Qualitative analysis revealed specific ways in which the relationship between transmasculine individuals and current health care systems are fraught with difficulties, including the impact of stigma, gatekeeping, and inaccuracies, in current diagnostic criteria. Participants shared lived experiences and offered innovative ideas to improve health care delivery, such as challenging socialized biases, increased education, and immersion in TGD communities to advocate for change in research, practice, and policy

Recommendations to reduce inequalities for LGBT people facing advanced illness : ACCESSCare national qualitative interview study

This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (http://www.creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).BACKGROUND: Lesbian, gay, bisexual and/or trans (LGBT) people have higher risk of certain life-limiting illnesses and unmet needs in advanced illness and bereavement. ACCESSCare is the first national study to examine in depth the experiences of LGBT people facing advanced illness. AIM: To explore health-care experiences of LGBT people facing advanced illness to elicit views regarding sharing identity (sexual orientation/gender history), accessing services, discrimination/exclusion and best-practice examples. DESIGN: Semi-structured in-depth qualitative interviews analysed using thematic analysis. SETTING/PARTICIPANTS: In total, 40 LGBT people from across the United Kingdom facing advanced illness: cancer ( n = 21), non-cancer ( n = 16) and both a cancer and a non-cancer conditions ( n = 3). RESULTS: In total, five main themes emerged: (1) person-centred care needs that may require additional/different consideration for LGBT people (including different social support structures and additional legal concerns), (2) service level or interactional (created in the consultation) barriers/stressors (including heteronormative assumptions and homophobic/transphobic behaviours), (3) invisible barriers/stressors (including the historical context of pathology/criminalisation, fears and experiences of discrimination) and (4) service level or interactional facilitators (including acknowledging and including partners in critical discussions). These all shape (5) individuals' preferences for disclosing identity. Prior experiences of discrimination or violence, in response to disclosure, were carried into future care interactions and heightened with the frailty of advanced illness. CONCLUSION: Despite recent legislative change, experiences of discrimination and exclusion in health care persist for LGBT people. Ten recommendations, for health-care professionals and services/institutions, are made from the data. These are simple, low cost and offer potential gains in access to, and outcomes of, care for LGBT people.Peer reviewedFinal Published versio

A communal catalogue reveals Earth's multiscale microbial diversity

Our growing awareness of the microbial world's importance and diversity contrasts starkly with our limited understanding of its fundamental structure. Despite recent advances in DNA sequencing, a lack of standardized protocols and common analytical frameworks impedes comparisons among studies, hindering the development of global inferences about microbial life on Earth. Here we present a meta-analysis of microbial community samples collected by hundreds of researchers for the Earth Microbiome Project. Coordinated protocols and new analytical methods, particularly the use of exact sequences instead of clustered operational taxonomic units, enable bacterial and archaeal ribosomal RNA gene sequences to be followed across multiple studies and allow us to explore patterns of diversity at an unprecedented scale. The result is both a reference database giving global context to DNA sequence data and a framework for incorporating data from future studies, fostering increasingly complete characterization of Earth's microbial diversity.Peer reviewe

A communal catalogue reveals Earth’s multiscale microbial diversity

Our growing awareness of the microbial world’s importance and diversity contrasts starkly with our limited understanding of its fundamental structure. Despite recent advances in DNA sequencing, a lack of standardized protocols and common analytical frameworks impedes comparisons among studies, hindering the development of global inferences about microbial life on Earth. Here we present a meta-analysis of microbial community samples collected by hundreds of researchers for the Earth Microbiome Project. Coordinated protocols and new analytical methods, particularly the use of exact sequences instead of clustered operational taxonomic units, enable bacterial and archaeal ribosomal RNA gene sequences to be followed across multiple studies and allow us to explore patterns of diversity at an unprecedented scale. The result is both a reference database giving global context to DNA sequence data and a framework for incorporating data from future studies, fostering increasingly complete characterization of Earth’s microbial diversity