“To perpetuate blindness!”: attitudes of UK patients with inherited retinal disease towards genetic testing

Abstract

Availability and accuracy of genetic testing in ophthalmology has increased yet the benefits are unclear especially for those conditions where cure or treatments are limited. To explore attitudes to and patients' understanding of possible advantages and disadvantages of genetic testing for inherited retinal disease, we undertook focus groups in three West Yorkshire towns in the UK. Most of our participants had retinitis pigmentosa and one of the focus groups consisted of participants from (British) Asian ethnic background. Here, we report only those attitudes which were common in all three focus groups. Some of the attitudes have already been reported in the literature. Novel findings include attitudes held towards informed choice and life planning, particularly among more severely affected participants. For example, participants appreciated that genetic testing increases informed choice and enables life planning, but these understandings tended to be in a specific sense: informed choice whether to have children and family planning in order to prevent illness recurrence. We conclude that even though these patients are not a homogeneous group, their attitudes tend to be underpinned by deep anxiety of passing their visual impairment onto their children. In this respect, they differ importantly from a small minority of the deaf who would prefer to have children with hearing loss, and from the more general population who do not believe that blindness is a "severe" enough disability to warrant avoiding having children.

Patient attitudes towards prenatal diagnostic testing for inherited retinal disease

“…Although most of the study participants were certified as having sight impairment, they did not perceive that their quality of life was sufficiently poor to justify termination. As in other studies, this suggests that participant decisions to consider PDT and TOP are based on their personal experience or perception of the severity of the condition and involved a reflection on the likely burden of the condition and the stigma for an affected child …”

“…As in other studies, this suggests that participant decisions to consider PDT and TOP are based on their personal experience or perception of the severity of the condition and involved a reflection on the likely burden of the condition and the stigma for an affected child. 18,20 Although reported support for PDT with termination of an affected pregnancy was low, the actual behaviour of these participants may be different in a real situation. 3,18 A study by Hewison et al 16 looked at attitudes towards prenatal testing and TOP for 30 different conditions in 420 women (198 Pakistani and 222 European white) in the UK.…”

Preventing lives affected by hemophilia: A mixed methods study of the views of adults with hemophilia and their families toward genetic screening

“…Previous research on attitudes toward screening and selective reproduction has been somewhat contradictory. Some studies have revealed widespread support for selective reproduction amongst affected families and adults (e.g., Chen & Schiffman, 2000;Conway, Allenby, & Pond, 1994;Janssens et al, 2016;Potrata, McKibbin, Lim, & Hewison, 2014), whilst more recent research points to ambivalence and conflict (Maxwell et al, 2011), and sometimes outright rejection of the notion of screening on principle (Barter, Hastings, Williams, & Huws, 2016;Boardman & Hale, 2018;Roadhouse et al, 2018). Concerns have been expressed about the loss of (potentially) high quality life in spite of genetic disease, the implied implicit judgement on the value of life with disability and disapproval of the redirection of resources away from social and environmental barrier removal and toward the medical elimination of the condition (Boardman & Hale, 2018;Middleton, Hewison, & Mueller, 1998;Roadhouse et al, 2018).…”

Patient understanding of genetic information influences reproductive decision making in retinoblastoma

“…12,13 A study of other inherited retinal disorders identified that affected individuals had a deep anxiety about passing on visual impairment to their children, and some had chosen not to have children because the risk was "too high." 14 We must also consider that a lack of clinical information patients have regarding developments in treatment of retinoblastoma and an "unawareness" of better outcomes compared to the past might be influencing individuals' decisions not to have children.…”