Views of ophthalmologists on the genetics of age-related macular degeneration: Results of a qualitative study

Abstract

BackgroundAge-related macular degeneration (AMD) is the leading cause of blindness in industrialized countries. It is a multifactorial disease of the retina modified by environmental/individual (e.g. smoking) and genetic factors. 34 independent genomic loci are associated with the risk to develop AMD; an interaction between smoking and genetics is currently investigated. It is unclear how the knowledge on the strong genetic component has entered the knowledge base of practicing ophthalmologists, and how they inform and counsel their (AMD) patients about it. In this study, we explore the ophthalmologists’ view on AMD genetics, and their inclination towards communicating genetic risks to patients.MethodsWe recruited a purposive sample of thirty German ophthalmologists (office based: n = 15, hospital employees: n = 15, f:8/30), who took part in a recorded semi-standardized interview. Transcripts were analyzed using content analysis.ResultsThe majority of office-based ophthalmologists claimed to be unfamiliar with genetics of AMD, in contrast to hospital-affiliated ophthalmologists. Both office and hospital ophthalmologists were convinced that genetics lacks practical relevance in everyday patient care. Many withhold information on heritability or genetic background of AMD from patients and their relatives, for fear of unsettling those individuals. The relevance of the genetic component of AMD or an individuals’ high genetic risk for prevention, e.g. screening or lifestyle modifications in persons with adverse genetic profile, was rated low.ConclusionDeveloping genetic educational programs tailored to the routine care of ophthalmologists may be indicated, as well as a better two-way communication between research and practice. Exploring patient views about their expectations to being informed about genetic disease etiology, or about their individual risk, would help inform communication strategies.

Mainstreaming genetics and genomics: a systematic review of the barriers and facilitators for nurses and physicians in secondary and tertiary care

“…Knowledge and Skill: 27 articles (56%) explored nurses' and physicians' knowledge of genetics (9, 26, 28-52), while 41 articles (85%) reported on their skills (9, 21-25, 27-35, 37-47, 49-63). While nurses and physicians routinely engaged in discussions about genetics with their patients (22,24,29,31,38,42,47,49,(52)(53)(54)(55)(56), all demonstrated limited understanding of general genetic concepts, and/or concepts relevant to their specialty (26,(28)(29)(30)(31)(32)(33)(34)(35)(36)(37). Despite knowledge deficits, nurses and physicians did engage in discussions about genetics with their patients (22,24,29,31,38,42,47,49,(52)(53)(54)(55)(56).…”

“…Environmental context & resources: 39 articles (81%) explored the impact of environmental context and resources on nurses' and physicians' ability to integrate into practice. Nurses and physicians infrequently referred patients to clinical genetics services (28, 29, 31-34, 36, 38, 40, 51, 53-55, 60), primarily because of the prohibitive cost of accessing genetic testing (34,39,(44)(45)(46)(60)(61)(62)(63)(64)(65), lack of resources (32,34,37,38,44,53,61,62,65), absence of guidelines (26-28, 45, 55, 56, 61), and of lack of time to initiate a genetics discussions (36,37,44,53,58,59,65). Some nurses and physicians had concerns about the privacy of genetic information or the process of informed consent (9, 37, 43, 44, 52, 64, 66).…”

“…Some nurses and physicians had concerns about the privacy of genetic information or the process of informed consent (9, 37, 43, 44, 52, 64, 66). However, if patients raised questions or concerns about genetics, nurses and physicians did engage in these discussions (9,24,34,36,42,43,45,49,55,60,62).…”

Preparing Medical Specialists to Practice Genomic Medicine: Education an Essential Part of a Broader Strategy

“…Views regarding the perceived relevance of genetics to conditions seen in clinical practice and utility of genetic testing varied across and within the specialties studied in the literature (Wilkins-Haug et al, 2000a; Hoop et al, 2008a; Hoop et al, 2008b; Harris et al, 2013; Myers et al, 2016; Amara et al, 2018; Diamonstein et al, 2018; Loss et al, 2018). For example, genetics was considered highly relevant and useful in obstetrics and pediatrics (Diamonstein et al, 2018) but less so in psychiatry (Hoop et al, 2008b) and general internal medicine (Diamonstein et al, 2018).…”

Promises and perils of using genetic tests to predict risk of disease

“…Many clinicians, however, consider genetic tests irrelevant31 or use them inconsistently,32 and we are currently lacking clinical trials that confirm changes in consumer behaviour or improved outcomes from using genetic data. Most available studies are limited by small samples, short follow-up, and self-reports focusing on intentions rather than actual behaviour 33.…”