Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures

Genetics researchers and clinical professionals rely on diversity measures such as race, ethnicity, and ancestry (REA) to stratify study participants and patients for a variety of applications in research and precision medicine. However, there are no comprehensive, widely accepted standards or guidelines for collecting and using such data in clinical genetics practice. Two NIH-funded research consortia, the Clinical Genome Resource (ClinGen) and Clinical Sequencing Evidence-generating Research (CSER), have partnered to address this issue and report how REA are currently collected, conceptualized, and used. Surveying clinical genetics professionals and researchers (n = 448), we found heterogeneity in the way REA are perceived, defined, and measured, with variation in the perceived importance of REA in both clinical and research settings. The majority of respondents (>55%) felt that REA are at least somewhat important for clinical variant interpretation, ordering genetic tests, and communicating results to patients. However, there was no consensus on the relevance of REA, including how each of these measures should be used in different scenarios and what information they can convey in the context of human genetics. A lack of common definitions and applications of REA across the precision medicine pipeline may contribute to inconsistencies in data collection, missing or inaccurate classifications, and misleading or inconclusive results. Thus, our findings support the need for standardization and harmonization of REA data collection and use in clinical genetics and precision health research

Can an Infectious Disease Genomics Project Predict and Prevent the Next Pandemic?

Infectious diseases need a globally coordinated genomic-based movement linking sequencing efforts to development of response tools to mitigate the impact of existing and emerging threats

Documenting the untold histories of late-diagnosed autistic adults: a qualitative study protocol using oral history methodology

INTRODUCTION: Receiving a diagnosis of autism in adulthood is increasingly common for a subset of individuals who were either misdiagnosed in childhood or missed out on a diagnosis altogether. This qualitative study, coproduced with autistic people, invites late-diagnosed autistic adults to share their life histories to (1) understand better the consequences of living without a diagnosis, (2) elucidate what precipitates an autism diagnosis in mid-to-late adulthood and (3) identify the perceived impact of receiving that diagnosis. METHODS AND ANALYSIS: Oral histories have been a successful way to uncover overlooked and marginalised voices. We therefore adopt qualitative, oral history methodology in this study to understand these adults' experiences, especially of living in an era when autism was not well known. We will recruit 24 participants who will (1) have been born before 1975, (2) have received a clinical, autism diagnosis after the age of 35, (3) be English-speaking and (4) have spent most of their childhood and adulthood living in Australia. Participants will take part in four sessions, including the main, qualitative, oral history interview, through a range of possible formats to facilitate inclusion. The interview data will be analysed using reflexive thematic analysis. ETHICS AND DISSEMINATION: The protocol has received institutional research ethics approval from Macquarie University's Human Research Ethics Committee (Ref.: 52019556310562). This study will yield understanding of the life experiences of autistic adults, especially middle-aged and older Australians, should inform more effective diagnostic practices and provide insight into the key factors that might promote resilience and enhance quality of life in autistic people. The findings will be disseminated to academic and clinical audiences through journal articles and conference presentations and to the autistic and autism communities through accessible reports. The interviews will also be prepared for digital archiving, which will enable ongoing access for future generations and communities

'A way to be me' : autobiographical reflections of autistic adults diagnosed in mid-to-late adulthood

In this article, we report on an oral history study documenting the lives of autistic adults in Australia. This qualitative study, co-produced with autistic researchers, offers insight into the lived experiences of autistic adults diagnosed in mid-to-late adulthood. Oral history methodology was utilised to understand the experiences of autistic adults who grew up in an era before autism was well-known. The 26 interviewees were born before 1975, receiving a clinical autism diagnosis after age 35 years. All interviews were conducted by autistic researchers, transcribed and thematically analysed by a team of autistic and non-autistic researchers using the six-step process outlined by Braun and Clarke. We identified four themes relating to perceptions of the self: being different, exploring identity, the suffering self and being Autistic. Some interviewees reported a direct relationship between trauma, negative self-conceptions and suffering. For most, formal diagnosis had positive impacts on sense of self, contributing to a greater focus on strengths. Contra research suggesting autistic impairments in self-awareness, these interviewees demonstrated a deep capacity for self-reflection, highlighting the variability of autistic lives and the socio-historical contexts that shape individual biographies, including experiences of stigma and discrimination as well as the empowering potential of identifying as autistic. Lay abstract: Using oral history methods, we interviewed and recorded 26 autistic adults in Australia about their life history. We wanted to better understand interviewees’ self-reflections about their lives. The interviewers were autistic researchers and the interviews were analysed by autistic and non-autistic researchers. All of the adults we interviewed were born before 1975 and formally identified as autistic after age 35 years. This group of people is sometimes referred to as ‘late-diagnosed autistic adults’. In general, there is not much research done about autistic adults and even less is known about those diagnosed late in life. In this article, we explore what these adults said about their sense of self and how that changed over time. These autistic adults told us about many negative experiences, including trauma, which had shaped how they think about themselves. For most, autism diagnosis had a very positive impact on their sense of self, allowing them to understand more about their own past and to feel good about their autistic identity. Previously some researchers have said that autistic people have a limited or impaired sense of self. Instead, our results show some autistic people can actually reflect deeply on their lives and their changing sense of self-identity over time

The Problem With the Phrase Women and Minorities:Intersectionality—an Important Theoretical Framework for Public Health

Intersectionality is a theoretical framework that posits that multiple social categories (e.g., race, ethnicity, gender, sexual orientation, socioeconomic status) intersect at the micro level of individual experience to reflect multiple interlocking systems of privilege and oppression at the macro, social-structural level (e.g., racism, sexism, heterosexism). Public health’s commitment to social justice makes it a natural fit with intersectionality’s focus on multiple historically oppressed populations. Yet despite a plethora of research focused on these populations, public health studies that reflect intersectionality in their theoretical frameworks, designs, analyses, or interpretations are rare. Accordingly, I describe the history and central tenets of intersectionality, address some theoretical and methodological challenges, and highlight the benefits of intersectionality for public health theory, research, and policy. Read More: http://ajph.aphapublications.org/doi/full/10.2105/AJPH.2012.300750?prevSearch=%5BContrib%3A+Bowleg%5D&searchHistoryKey