Current understanding of genetics and genetic testing and information needs and preferences of adults with inherited retinal disease

Abstract

Advances in sequencing technology and the movement of genetic testing into all areas of medicine will increase opportunities for molecular confirmation of a clinical diagnosis. For health-care professionals without formal genetics training, there is a need to know what patients understand about genetics and genetic testing and their information needs and preferences for the disclosure of genetic testing results. These topics were explored during face-to-face interviews with 50 adults with inherited retinal disease, selected in order to provide a diversity of opinions. Participants had variable understanding of genetics and genetic testing, including basic concepts such as inheritance patterns and the risk to dependents, and many did not understand the term 'genetic counselling'. Most were keen for extra information on the risk to others, the process for genetic testing and how to share the information with other family members. Participants were divided as to whether genetic testing should be offered at the time of the initial diagnosis or later. Many would prefer the results to be given by face-to-face consultation, supplemented by further information in a format accessible to those with visual impairment. Health-care professionals and either leaflets or websites of trusted agencies were the preferred sources of information. Permission should be sought for disclosure of genetic information to other family members. The information needs of many patients with inherited retinal disease appear to be unmet. An understanding of their information needs and preferences is required to help health-care professionals provide optimal services that meet patient expectations.

Patient attitudes towards prenatal diagnostic testing for inherited retinal disease

“…At the same time, participants showed their willingness to receive more information about the implications, both in terms of inheritance pattern and prognosis of their condition to make informed choices. It is therefore pivotal that individuals have access to genetic counselling services, where they can receive accurate, balanced and unbiased information and support to make informed reproductive decisions …”

“…The following characteristics were included in the sampling frame: age (across four groups considered to represent different life stages: 16–25 years, 26–39 years, 40–59 years and 60+ years), gender, ethnicity, education, severity of visual impairment, parenting status, and family history of IRD. Both the telephone questionnaire and the format for the subsequent interviews have been described in detail previously …”

Willingness to pay for genetic testing for inherited retinal disease

“…Recent work from our group has demonstrated that the information needs of many patients with inherited retinal disease appear to be unmet. 17 Our study presents a number of limitations of the experimental nature of CV surveys. 18,19 Typically, the reported willingness to take the test and to pay for testing in this study is only a proxy for actual uptake of testing and true willingness to pay.…”

Why take part in personalised cancer research? Patients’ genetic misconception, genetic responsibility and incomprehension of stratification-an empirical-ethical examination

“…Furthermore, the effect of misleading wording becomes particularly apparent in the findings of patients' genetic misconception (McKibbin et al, 2014;Pentz et al, 2012). This phenomenon is likely to be essential for any molecular cancer research when physicians refer to genetics, gene banks, genetic testing or tumour genetics (Beskow, Dombeck, Thompson, Watson-Ormond, & Weinfurt, 2015;Gray et al, 2012 General wording such as "optimisation" or "personalisation" tend to undermine (rather than facilitate) the correct understanding of this important research aim.…”