Ryan Combs

Understanding the impact of genetic testing for inherited retinal dystrophy.

The capability of genetic technologies is expanding rapidly in the field of inherited eye disease. New genetic testing approaches will deliver a step change in the ability to diagnose and extend the possibility of targeted treatments. However, evidence is lacking about the benefits of genetic testing to support service planning. Here, we report qualitative data about retinal dystrophy families’ experiences of genetic testing in United Kingdom. The data were part of a wider study examining genetic eye service provision. Twenty interviewees from families in which a causative mutation had been identified by a genetic eye clinic were recruited to the study. Fourteen interviewees had chosen to have a genetic test and five had not; one was uncertain. In-depth telephone interviews were conducted allowing a thorough exploration of interviewees’ views and experiences of the benefits of genetic counselling and testing. Transcripts were analysed using thematic analysis. Both affected and unaffected interviewees expressed mainly positive views about genetic testing, highlighting benefits such as diagnostic confirmation, risk information, and better preparation for the future. Negative consequences included the burden of knowledge, moral dilemmas around reproduction, and potential impact on insurance. The offer of genetic testing was often taken up, but was felt unnecessary in some cases. Interviewees in the study reported many benefits, suggesting genetic testing should be available to this patient group. The benefits and risks identified will inform future evaluation of models of service delivery. This research was part of a wider study exploring experiences of families with retinal dystrophy.

Understanding the expectations of patients with inherited retinal dystrophies

Background UK genetic ophthalmology services for patients with retinal dystrophy (RD) are variable. Little research exists to define service requirements, or expectations, of patients and their families. This study aimed to explore the views and perceived benefits of genetic ophthalmology services among members of families with RD. Methods Twenty participants with known RD mutations were recruited through UK genetic ophthalmic clinics. Semistructured qualitative interviews explored interviewees’ perceptions of the role of these services. Interviews were transcribed verbatim and analysed using inductive thematic analysis. Results Interviewees’ expectations and requirements of genetic ophthalmology services were wide-ranging and often perceived to be unmet. Participant expectations were classified in three groups: (1) Medical expectations included obtaining a diagnosis and information about disease/prognosis, genetic risks and research (2) Psychosocial expectations related to participants’ need for support in adjusting to RD (3) Practical expectations included the desire for information about welfare and support. Conclusions Expectations of RD families for clinical services are complex, encompassing a range of healthcare specialties. Services that align to these expectations will need to reach beyond the diagnostic arena and provide practical and psychosocial support. The identification of measurable outcomes will facilitate future development and evaluation of service delivery models. Many of the expectations identified here map to an existing, previously validated, outcomes framework for clinical genetic services. However, an additional outcome domain, labelled ‘Independence’ was also identified; this could either be specific to vision loss or relate generally to disability caused by genetic conditions.

Hidden caring, hidden carers? Exploring the experience of carers for people with long-term conditions

Abstract Informal carers make a significant contribution to illness management in communities, but many struggle to access support and remain ‘hidden carers’. We aimed to explore how carers of people with common long‐term conditions (LTCs, such as coronary heart disease or kidney disease) conceptualised their caring, and whether they struggled to identify themselves with the term ‘carer’ or access for support. We conducted semi‐structured interviews with 19 informal carers of people with LTCs recruited from local support groups. Topic guides were designed to encourage participants to provide their retrospective accounts of identifying as a carer or struggling to do so. Data were analysed using the constant comparative method. The study was designed collaboratively with a patient and public involvement (PPI) partner, and we consulted with a PPI steering group of people with lived experience of caring during the study. Results showed how participants drew on comparisons with those caring for more dependent relatives in explaining their reluctance to define themselves as a carer, and resisted adopting the label due to concerns that it would threaten the identity of the cared‐for person. The data were interpreted in terms of types of ‘work’ undertaken to manage LTCs, and revealed that carers of patients with LTCs appear to primarily engage in biographical and emotional support, which may be more difficult to conceptualise as legitimate caring ‘work’. Participants indicated that health professionals may be in a unique position to validate their role as carers and encourage support seeking. The study suggests how the greater focus on self‐management of LTCs in the community must be complemented by recognition of this group as potentially ‘hidden carers’, who support the patient to minimise the impact the illness has on their lives and consequently may minimise their own caring role, with negative implications for support seeking.

Valuing the benefits of genetic testing for retinitis pigmentosa: a pilot application of the contingent valuation method

Background Technological advances present an opportunity for more people with, or at risk of, developing retinitis pigmentosa (RP) to be offered genetic testing. Valuation of these tests using current evaluative frameworks is problematic since benefits may be derived from diagnostic information rather than improvements in health. This pilot study aimed to explore if contingent valuation method (CVM) can be used to value the benefits of genetic testing for RP. Methods CVM was used to elicit willingness-to-pay (WTP) values for (1) genetic counselling and (2) genetic counselling with genetic testing. Telephone and face-to-face interviews with a purposive sample of individuals with (n=25), and without (n=27), prior experience of RP were used to explore the feasibility and validity of CVM in this context. Results Faced with a hypothetical scenario, the majority of participants stated that they would seek genetic counselling and testing in the context of RP. Between participant groups, respondents offered similar justifications for stated WTP values. Overall stated WTP was higher for genetic counselling plus testing (median=£524.00) compared with counselling alone (median=£224.50). Between-group differences in stated WTP were statistically significant; participants with prior knowledge of the condition were willing to pay more for genetic ophthalmology services. Conclusions Participants were able to attach a monetary value to the perceived potential benefit that genetic testing offered regardless of prior experience of the condition. This exploratory work represents an important step towards evaluating these services using formal cost–benefit analysis.

Engaging the Transgender Community to Improve Medical Education and Prioritize Healthcare Initiatives

ABSTRACT Phenomenon: Transgender patients experience discrimination, limited access to care, and inadequate provider knowledge in healthcare settings. Medical education to address transgender-specific disparities is lacking. Research that engages transgender community members may help address health disparities by empowering patients, increasing trust, and informing medical curricula to increase competence. Approach: A 2015 Community Forum on Transgender Health Care was hosted at the University of Louisville School of Medicine, which included healthcare professionals and transgender community members to facilitate dialogue among mixed-participant groups using a World Café model. Fifty-nine participants discussed the status of transgender healthcare and made recommendations for local improvements. A follow-up survey was administered to 100 individuals, including forum participants and their referrals. The forum discussion and survey responses were analyzed to determine common perceptions of transgender healthcare, priorities for improvement interventions, and themes to inform curriculum. Findings: The community forum discussion showed that local transgender care is overwhelmingly underdeveloped and unresponsive to the needs of the transgender community. The follow-up survey revealed that priorities to improve transgender care included a multidisciplinary clinic for lesbian, gay, bisexual, and transgender (LGBT) patients, an LGBT-friendly network of physicians, and more training for providers and support staff. This mutually constructive engagement experience influenced reform in undergraduate curricula and continuing education opportunities. Insights: Community engagement in healthcare disparities research can cultivate improbable discussions, yield innovative insight from marginalized populations, and build relationships with community members for future collaborations and interventions. Societal acceptance of transgender identities, which could be promoted through healthcare providers, could stimulate significant progress in transgender healthcare. Supplemental educational interventions for practicing physicians will improve the current conditions of transgender healthcare, but a comprehensive medical school curriculum specifically for transgender health that includes interactions between the transgender community and medical students could be particularly impactful.

Patient expectations and attitudes towards specialist genetic eye services.

Little research has explored the views of patients referred to specialist genetic eye clinics. Future service development must be informed by the perspectives of patients to ensure services are accessible and meet their needs. Semi-structured telephone interviews were undertaken with patients referred to the Genetic Eye Clinic in Manchester, UK. Participants were interviewed before their first appointment. The interview transcripts were analysed using Interpretative Phenomenological Analysis (IPA). Nine interviews took place. Five participants were adults with sight loss and 4 were the parent/carer of a child patient. The major themes identified were: expectations of a medical-genetic focus to the clinic, psychological adjustment to the diagnosis of an eye condition impacting on counselling and support needs, lack of preparation and restricted expectations due to unfamiliarity with the service and positive attitudes towards genetic research and testing. Key motivating factors for patients attending specialist ophthalmic genetic services are medical-genetic orientated, including accurate diagnostic and prognostic information, participation in research and clarification of recurrence risks. Some barriers to patients accessing and fully engaging with services were identified. There is a need to raise awareness of the specialist service amongst the public, patient organisations and professionals. Facilitating patient preparation for clinic could improve patient outcomes, and the need for integrated services is reinforced. The results feed into the development of a best practice model for the delivery of specialist ophthalmic genetic services.

Considering transgender and gender nonconforming people in health communication campaigns

Transgender and gender nonconforming (TGNC) people have become more visible and risen in the American public’s consciousness in recent years. Despite this visibility and some political gains such as piecemeal advances in legal gender recognition and nondiscrimination protection, TGNC people continue to experience extensive health and social disparities. Notably, these disparities include a higher human immunodeficiency virus (HIV) burden, poorer mental health outcomes, and barriers to health care. Public health professionals in the United States have called for TGNC health inequities to be addressed and health communication is an important component of this effort. This article begins with an overview of the research evidence about the extent of TGNC disparities and contextualizes them socio-politically. Then, we review a sample of existing health communication campaigns relating to breast, cervical, and testicular cancers through a TGNC lens. Finally, we make a case for considering TGNC people in the development and delivery of health communication campaigns. Recommendations are made for how to do this effectively. Suggested actions include reviewing existing materials for gender inclusivity, engaging communities to determine accurate and relevant messaging, collecting population-level demographic data on gender identity, and training employees using a health equity framework.

Addressing Health Insurance Literacy Gaps in an Urban African American Population: A Qualitative Study

Health insurance and health systems literacy needs are evolving with changes to the U.S. healthcare system. Following the implementation of the Affordable Care Act, many residents in West Louisville, Kentucky, a predominantly African American community, gained health insurance coverage for the first time. A qualitative study was conducted to assess residents’ health insurance and health systems needs and to identify ways of assisting residents with navigating the healthcare system and utilizing their health insurance coverage. Twelve focus groups were conducted with a total of eighty-seven residents. Round one explored participants’ experiences with health insurance, and round two examined their health information delivery preferences. An inductive thematic analysis was performed. Participants revealed the complexity of the health insurance system, many citing difficulty understanding health insurance concepts and finding suitable healthcare providers. High costs, mistrust in the healthcare system, and perceived public-private disparities were barriers to effective health insurance utilization. Health insurance materials in their current form have limited value in translating health insurance and health systems information to the West Louisville population. Alternative forms of information delivery, such as locally accessible and culturally competent community health workers may be better received and more successfully utilized by the community.

Gender Variance: The Intersection of Understandings Held in the Medical and Social Sciences

When examining the medical and social position of gender variant people, it is important to consider the divergent understandings of sex, gender, gender identity, and, to some extent, sexuality, and the ways in which these beliefs influence health practice. Doctors and policy makers rely upon evolving, ambiguous notions of gender to make decisions about who to treat when approached by gender variant people. This chapter discusses how gender variant experiences, such as those of trans and intersex people, are conceptualized differently in social science and medical literature.1 In addition, it explores how social, biological, medical, and discursive constructions of gender affect treatment. I do not attempt to give definitive definitions of sex, gender, gender identity, or gender dysphoria; instead, I highlight the etiological and definitional ambiguity found in the literature and the problems posed by this inconsistency.2