Ethical issues in ocular genetics

Mezer, Eedy; Wygnanski–Jaffe, Tamara

doi:10.1097/icu.0b013e32832f7feb

Cited by 11 publications

(8 citation statements)

References 20 publications

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“…But if nothing can be done, genetic testing might be irrelevant. In this respect, our study is in agreement with Mezer's (2007) but as some other studies-including ours (Mezer and Wygnanski-Jaffe 2009;Bong et al 2010) offer additional dimension of understanding. Many of the participants in our study believed that diagnostic and/or predictive testing is valuable even in the absence of treatment or cure because the affected could creatively imagine ways of how it could lead to potential treatments and cure, or make these available quicker.…”

Section: Discussionsupporting

confidence: 92%

“…Our findings may resolve the apparent paradox encountered by Mezer (2007;Mezer and Wygnanski-Jaffe 2009), the majority of whose participants were in favour of prenatal testing for their children yet did not contemplate termination of potentially affected foetuses. Our research points out that the implicit assumption about having a prenatal test in order to terminate pregnancy if the foetus is affected, implied in several other studies (Mezer et al 2007;Furu et al 1993; Mezer and Wygnanski-Jaffe 2009) might be spurious.…”

Section: Discussionmentioning

confidence: 64%

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

et al. 2013

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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.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 64%

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

et al. 2013

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“…Several participants felt that support for PDT would be stronger when the risk to the child was higher and for more severe disease. Mezer 15 identified stronger support for PDT and termination of pregnancy among those with more severe visual impairment, although reported that those affected by IRD were less likely to support PDT and termination than those who were unaffected. Many participants were aware that demand would increase if there was the chance of accessing a novel therapy very early in life to stabilise or improve visual function, hence reducing the burden of the disease.…”

Section: Discussionmentioning

confidence: 99%

“…Pradhan reported that only three of 35 couples with a personal or family history of IRD chose to investigate options for PDT or pre‐implantation genetic diagnosis after a positive, diagnostic genetic test. Similarly, Mezer reported greater support for PDT than for termination of pregnancy.…”

Section: Discussionmentioning

confidence: 99%

“…Equally, it is important to be aware that the concept of quality of life may have different meanings for different people and quality of life can also change for the same person over the course of a disease. 15,21 Despite published evidence that the risks of both amniocentesis and chorionic villus sampling are low (1-3%), 22 some participants had concerns about the procedural risks of PDT. Several expressed concerns about the accuracy of results and worried that individuals may make a wrong decision and terminate an unaffected pregnancy.…”

Section: Discussionmentioning

confidence: 99%

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Patient attitudes towards prenatal diagnostic testing for inherited retinal disease

Ahmed

Potrata

et al. 2015

Prenatal Diagnosis

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Objective To explore factors that influence decision‐making in relation to prenatal diagnostic testing (PDT) for inherited retinal disease (IRD). Method Semi‐structured interviews were conducted with 50 adults with IRD, selected from a larger sample to provide a diversity of backgrounds and opinions on genetic testing. Interviews were transcribed verbatim and analysed using thematic analysis. Results Mostly participants supported PDT, believing that it would provide information to help them prepare for and plan the future care of the child and the potential for early access to emerging therapies. Opposition to PDT stemmed from its use to justify termination of pregnancy, with participants feeling that it was not justified as they retained a good quality of life despite their visual impairment. Participants raised concerns about the risk of PDT and the accuracy of the results. However, most suggested that it should be available as an option for others, but for specific reasons and not as a part of routine care. Conclusion The variation in attitudes towards PDT and uncertainty about the risk and accuracy of results suggest that individuals at risk of having a child with IRD should have access to genetic counselling to support decision making. © 2015 John Wiley & Sons, Ltd.

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Access to genetic testing for rare diseases: Existing gaps in public‐facing information

Robillard

Feng

Kabacińska

2021

World Med & Health Policy

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Genetic testing plays an increasingly important role in the diagnosis and potential treatment of inherited and rare conditions, such as aniridia—a disease that leads to abnormal eye development, as well as in health research on these conditions. As genetic testing is increasingly sought for accurate and early diagnosis of rare genetic disorders and in the context of direct‐to‐consumer genomics, it is critical to examine the public‐facing information about access to these services and reimbursement policies. We conducted a targeted policy and public‐facing resource search. Our analysis of resources available for the patient community revealed that there is very little practical guidance available about access and reimbursement for genetic testing for rare diseases. Greater clarity in public‐facing resources about genetic testing would be beneficial to the patient community as it would promote informed choices about the procedure, mitigate potential harms associated with lack of information and enable patient engagement in their own health care.

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Ethical issues in ocular genetics

Cited by 11 publications

References 20 publications

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

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

Patient attitudes towards prenatal diagnostic testing for inherited retinal disease

Access to genetic testing for rare diseases: Existing gaps in public‐facing information

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