Queering genomics: How cisnormativity undermines genomic science.

Over the past century, genetics and genomics ("genomics") have contributed significantly to our knowledge of human biology and disease. Genomics has also bolstered inaccurate and harmful arguments about "essential" differences between socially defined groups. These purported differences have reinforced class hierarchies and justified the mistreatment of groups such as Black people, Indigenous people, and other people of color and/or people with disabilities. With this history in mind, we explore how genomics is used to reinforce scientifically unsound understandings of the relationship between two fundamental aspects of the human experience: sex and gender. We argue that imprecise, inaccurate practices for collecting data and conducting genomic research have adversely influenced genomic science and can contribute to the stigmatization of people whose sex and/or gender challenge binary expectations. The results have been to preclude transgender and intersex people from accessing high-quality, evidence-based healthcare and to hinder their participation in scientifically sound research. In this perspective, we use the lens of queer theory to render this situation more visible. First, we highlight the theoretical contributions queer theory can make to genomic science. Second, we examine practices in research and clinical genomics that exclude and stigmatize transgender and intersex people. Third, we highlight the ways that many current genomic research practices generate false conclusions that are used to support unjust public policies. We conclude by recommending ways that clinicians and researchers can-and should-harness the scientific, social, and cultural power of genomics to advance knowledge and improve lives across the spectra of sex and gender.

Toward depathologizing queerness: An analysis of queer oppression in clinical genetics.

Critically examining the way that the field of clinical genetics has impacted queer communities offers the field an opportunity to strengthen our commitment to inclusive high-quality care to all patients, families, and communities. This article reviews the origins of clinical genetics and genetic counseling in the eugenics movement and how this ontology promoted harmful medical practices grounded in assumptions of what is "normal." We critically examine existing clinical genetics practices and how commonly used binary frameworks for gender, sex, and sexuality perpetuate heteronormative, cisnormative, and bioessentialist assumptions. In order to move toward queer inclusivity, the genetic counseling field must first take accountability for past injustices. Restorative justice and trauma-informed approaches offer a way to engage with the queer community and to begin to rectify the history of medical harm. Through our analysis, we advocate for expanding efforts to depathologize queerness, promote bodily autonomy, and provide equitable healthcare for the queer community.

Intersex people's perspectives on affirming healthcare practices: A qualitative study.

Intersex people have variations in their sex characteristics that do not exclusively fall within binary definitions of male and female. This community experiences discrimination in the medical setting due to the pathologization of intersex bodies, including 'normalizing' genital surgeries without the child's consent. While research has explored biomedical aspects contributing to intersex variations, there is limited research centering intersex people's perspectives on their healthcare experiences. The aim of this qualitative study was to understand the experiences of intersex people in the medical setting, with the goal of providing recommendations to clinicians to promote affirming healthcare practices. Between November 2021 and March 2022 we conducted 15 virtual semi-structured interviews with members of the intersex community about their experiences with healthcare providers and perspectives on how their care could be improved. Participants were recruited through social media, with the majority residing in the United States. Through reflexive thematic analysis, 4 major themes were conceptualized: (1) the exclusion of intersex people in binary frameworks, (2) the common experience of medical trauma, (3) the value of psychosocial support, and (4) systemic change to address intersex healthcare. Recommendations were generated based on participants' narratives, including a recommendation for providers to use a trauma-informed approach to care. Healthcare providers must prioritize patient autonomy and ensure consent throughout their medical visits in order to promote intersex affirming care. Depathologization of intersex variations and comprehensive teachings of intersex history and medical care must be incorporated into medical curricula to mitigate experiences of medical trauma and to relieve the burden placed on patients to be their own medical experts and advocates. Participants shared the value of being connected to support groups and mental health resources. Systemic change is needed for the normalization and demedicalization of intersex variations and for the medical empowerment of the intersex community.

Transgender and gender-diverse (TGD) individuals' perspectives on research seeking genetic variants associated with TGD identities: a qualitative study.

Recent genetic research has explored how genetic variants may contribute to gender dysphoria and transgender and gender-diverse (TGD) identities. When investigating communities that have been marginalized, it is important for researchers to incorporate perspectives of the communities the research is targeting. Therefore, investigators should incorporate the TGD community's opinions into this research to mitigate potential ethical issues, given the history of pathologization of TGD identities and utilization of genetics for eugenics. The aim of this study was to understand the perspectives of TGD individuals about trans-associated genetic research (TAGR). Eighteen semi-structured interviews were conducted with members of the TGD community to explore how TGD individuals view TAGR. Through inductive content analysis, five major themes were emergent: (1) TAGR could affect self-perception of identity; (2) TAGR could affect external views of TGD people; (3) TAGR could affect access to gender-affirming services; (4) TAGR could contribute to the pathologization and elimination of TGD identities; and (5) researchers should consult TGD community members and consider ethical concerns before conducting research. Participants highlighted concerns about TAGR being used as a tool for discrimination. Those who identified potential advantages of TAGR gave warning that TAGR would be unlikely to solely have positive effects. It is important for genetic researchers to prioritize the perspectives and concerns of TGD people highlighted in this study. Research about the TGD community needs to include TGD individuals as core members of the research team. Moreover, due to the serious ethical issues outlined in this study, TAGR should be reconsidered altogether.

Clinical Multigene Testing for Prostate Cancer.

Germline genetic testing for prostate cancer (PC) is increasingly important as the clinical utility of germline variants in this patient population is understood better. To better characterize the clinical landscape of germline testing in PC, published clinical cohorts of PC who underwent clinical germline genetic analysis at point of care are reviewed. Limitations and heterogeneity of these cohorts are highlighted and pathogenic results with established or potential clinical utility in PC noted. The need for additional germline genetic studies is underscored, because the number of PC patients studied lags greatly behind the high prevalence of the disease.

Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network.

BACKGROUND: Although clinician, researcher, and patient resources for matchmaking exist, finding similar patients remains an obstacle for rare disease diagnosis. The goals of this study were to develop and test the effectiveness of an Internet case-finding strategy and identify factors associated with increased matching within a rare disease population. METHODS: Public web pages were created for consented participants. Matches made, time to each inquiry and match, and outcomes were recorded and analyzed using descriptive statistics. A Poisson regression model was run to identify characteristics associated with matches. RESULTS: 385 participants were referred to the project and 158 had pages posted. 579 inquiries were received; 89.0% were from the general public and 24.7% resulted in a match. 81.6% of pages received at least one inquiry and 15.0% had at least one patient match. Primary symptom category of neurology, diagnosis, gene page, and photo were associated with increased matches (p ≤ 0.05). CONCLUSIONS: This Internet case-finding strategy was of interest to patients, families, and clinicians, and similar patients were identified using this approach. Extending matchmaking efforts to the general public resulted in matches and suggests including this population in matchmaking activities can improve identification of similar patients.

Genetic counselors' experiences with transgender individuals in prenatal and preconception settings.

Many transgender individuals want to have children and are pursuing reproductive care. Limited research has described the experiences of transgender individuals during pregnancy, and no known studies have examined reproductive genetic counseling sessions with this patient population. To understand what topics and considerations are explored within this sector of reproductive care, prenatal and preconception genetic counselors that have seen a transgender patient and/or transgender partner of a patient were recruited through an email blast to members of the National Society of Genetic Counselors. Nine genetic counselors completed phone interviews. Content analysis was used to identify, quantify, and examine the concepts within the transcripts. Six major themes emerged: (1) Trans individuals were referred for common genetic counseling indications, (2) genetic counselors were driven to think of more inclusive language, (3) genetic counselors considered ways to make written materials more inclusive, (4) trans individuals expressed discomforts in the prenatal/preconception setting, (5) genetic counselors observed challenges with the care team, and (6) genetic counselors felt underprepared. This study identifies areas within reproductive spaces of genetic counseling that could be more inclusive, particularly relating to commonly used gendered language and written materials, and provides training recommendations for genetic counselors. Additionally, we outline the reported areas of discrimination for these patients and partners, and discuss ways that genetic counselors can be advocates for respectful and equitable care within their clinics.

Creation and utility of 'Boston Minority Genetic Counselors'.

The genetic counseling profession began shortly after the Civil Rights Movement, before effective strategies for inclusion of racial minorities had emerged. Given the historical context of the field and the continued lack of diversity in the professional body, inclusion among genetic counselors of social minority backgrounds is important to examine and address. A group of genetic counselors in the Boston area with social minority backgrounds initiated the Boston Minority Genetic Counselors (BMGC) group to bolster interconnection and support for themselves and their local genetic counselors and trainees of social minority backgrounds. In this paper, we describe the formation of the BMGC and its ongoing work. Future directions include using the BMGC model and/or that of similar organizations, such as the Minority Genetic Professionals Network, as a template to create similar genetic counseling groups that provide support around topics of social minority identities and promote sentiments of inclusion across the profession.

Genetic counselors' comfort and knowledge of cancer risk assessment for transgender patients.

Transgender individuals are often their own health advocates, especially if seeking hormone therapies and gender-affirmation surgeries. While literature exists in the genetic counseling field that explores the relationship between genetic counselors and lesbian, gay, and bisexual patients, there is less research that directly addresses transgender patients. This study assessed cancer genetic counselors' education, knowledge, and comfort with transgender health issues, such as hormone therapies and gender affirmation surgeries. A survey evaluated comfort with relevant vocabulary terms and performance on written case vignettes to approximate how cancer genetic counselors would facilitate conversations with transgender patients about cancer risks. Conclusions drawn in this study are representative of this subpopulation, which is skewed toward a younger population. Mean similarity between responses and predetermined correct answers on the case vignettes was 78.5%. A majority of participants endorsed wanting more education on implications of transgender identity on cancer risk assessment, a need underscored by some participants reporting their discomfort asking about gender pronouns. There was an overall lack of consensus on breast cancer screening based on estrogen therapy, pedigree symbol use, and testing of a minor prior to hormone therapy. This study adds to the growing literature that highlights the educational needs specific to genetic counseling to promote individualized care for transgender patients.

Cancer genetic counselors' experiences with transgender patients: A qualitative study.

It is becoming increasingly common for people to openly identify as transgender, yet there is little research in the field of genetic counseling regarding this community's unique medical needs. Transgender patients are likely to present with issues that cross genetics and gender-related care in a cancer genetic counseling session, and empiric data about these differences is needed to provide adequate care. In order to investigate what specific health topics and concerns are addressed in cancer genetic counseling sessions with transgender patients, 21 cancer genetic counselors who have seen transgender patients were interviewed. Through inductive analysis, six themes emerged: (1) documentation systems are not inclusive or clear; (2) genetic counselors feel unprepared for these sessions; (3) gender affirming hormones impact risk assessment; (4) genetic testing affects gender affirming surgical decisions; (5) transgender patients present at younger ages to clinic; and (6) pathogenic variants allow for insurance coverage for gender affirming surgeries. This study's findings point to opportunities for the field of genetic counseling to enhance services for transgender patients by reporting distinctive situations that may arise in clinic with these patients and providing training recommendations for genetic counselors.