Should patients with ocular genetic disorders have genetic testing?

Zanolli, Mario; Khetan, Vikas; Dotan, Gad; Pizzi, Laura T.; Levin, Alex V.

doi:10.1097/icu.0000000000000083

Cited by 8 publications

(6 citation statements)

References 63 publications

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“…However, several authors provide different estimates: in 2014, Xue et al [ 50 ] provided references to support the claim that “the rate of reportable IFs can range from 1 to 8.8 %”, while Gecz et al [ 70 ] argued that they range from 1 to 2 % of patients. Regardless of how often IF are found in practice, they have to be addressed in the patient pre-test counselling process [ 51 , 71 ], and this ‘intensive genetic counseling’ [ 28 ] can be a “main issue” in practice [ 40 , 72 ]. Incidental findings are viewed as a potential “additional burden” [ 65 ] and source of anxiety for patients and their families [ 62 , 73 , 74 ].…”

Section: Resultsmentioning

confidence: 99%

Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views

2016

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BackgroundWhole-exome sequencing (WES) consists in the capture, sequencing and analysis of all exons in the human genome. Originally developed in the research context, this technology is now increasingly used clinically to inform patient care. The implementation of WES into healthcare poses significant organizational, regulatory, and ethical hurdles, which are widely discussed in the literature.MethodsIn order to inform future policy decisions on the integration of WES into standard clinical practice, we performed a systematic literature review to identify the most important challenges directly reported by technology users.ResultsOut of 2094 articles, we selected and analyzed 147 which reported a total of 23 different challenges linked to the production, analysis, reporting and sharing of patients’ WES data. Interpretation of variants of unknown significance, incidental findings, and the cost and reimbursement of WES-based tests were the most reported challenges across all articles.ConclusionsWES is already used in the clinical setting, and may soon be considered the standard of care for specific medical conditions. Yet, technology users are calling for certain standards and guidelines to be published before this technology replaces more focused approaches such as gene panels sequencing. In addition, a number of infrastructural adjustments will have to be made for clinics to store, process and analyze the amounts of data produced by WES.Electronic supplementary materialThe online version of this article (doi:10.1186/s12920-016-0213-6) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 99%

Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views

2016

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“…The lack of information about access to and reimbursement for genetic testing may prevent patients from seeking these potentially beneficial services. Some benefits from genetic testing for inherited eye diseases include diagnostic confirmation, medical surveillance for complications, reduction of anxiety and medical costs, more treatment options, such as gene therapy, participation in clinical trials and better family planning (Chiang et al, 2015 ; Drack et al, 2010 ; Gillespie et al, 2014 ; Stone, 2007 ; Wiggs & Pierce, 2013 ; Zanolli et al, 2014 ). For instance, the presence of PAX6 mutations in an individual may affect person's reproductive decisions, as two in three aniridia patients have an affected parent, or it could inform a predictive prenatal test (Richardson et al, 2016 ).…”

Section: Discussionmentioning

confidence: 99%

“…As a result, it is likely that accessibility of virtual counseling will also increase. Some other known issues explored in the literature regarding genetic testing decision‐making include applicability of genetic testing to complex disorders, predictive testing for untreatable conditions, genetic discrimination, prenatal sequencing, and abortion (Combs et al, 2013 ; Mezer & Wygnanski‐Jaffe, 2009 ; Zanolli et al, 2014 ).…”

Section: Discussionmentioning

confidence: 99%

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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“…Prior to genetic testing, the physician must identify an indication for the test, which is often based on the patient's history and phenotypic presentation. Genetic counsellors should also be included in counselling the patient on the risks, benefits and cost of the requested test 4. Insurance companies will often cover the cost of the test if medical necessity and potential to treat can be demonstrated by the physician.…”

Section: Discussionmentioning

confidence: 99%

Keratoconus in an adult with 22q11.2 deletion syndrome

Saffra¹,

Reinherz²

2015

BMJ Case Reports

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22q11.2 Deletion syndrome is one of the most common microdeletional syndromes, with an incidence of 1:4000 live-births, and potentially affects every organ in the body. More than 180 associated clinical features have been reported and not one phenotypic feature is present in 100% of cases. Ocular manifestations reported based on early childhood examinations include eyelid hooding, strabismus, posterior embryotoxon, retinal vessel tortuosity and refractive errors. Keratoconus has been reported once before in association with 22q11.2 deletion syndrome in a young adult. We report the second case of keratoconus in association with 22q11.2 deletion syndrome.

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Should patients with ocular genetic disorders have genetic testing?

Abstract: As advances continually occur in genetic testing for ocular genetic disorders, clinicians must develop an understanding of the potential risks and benefits for their patients.

Cited by 8 publications

References 63 publications

Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views

Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views

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

Keratoconus in an adult with 22q11.2 deletion syndrome

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