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

Robillard, Julie M.; Feng, Tanya L.; Kabacińska, Katarzyna

doi:10.1002/wmh3.469

Cited by 6 publications

(8 citation statements)

References 21 publications

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“…Projects such as the 100,000 Genomes Project in the UK led to a local increase of genetic tests (22-24). In other countries, availability of genetic testing is still limited for PCD diagnostics and rare diseases in general (25, 26). In many countries, structural changes in healthcare systems would be needed to improve access to genetic testing, which is a slow process that unfortunately limits care and equal opportunities for patients with rare diseases worldwide (27).…”

Section: Discussionmentioning

confidence: 99%

Diagnostic testing in people with primary ciliary dyskinesia: an international participatory study

Schreck

Pedersen

Cizeau³

et al. 2023

Preprint

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Diagnostic tests are important in primary ciliary dyskinesia (PCD), a rare disease, to confirm the diagnosis and characterize the disease. We compared diagnostic tests for PCD between countries worldwide, assessed whether people with PCD recall their tests, and identified factors associated with the use of tests. We used cross-sectional data from COVID-PCD—an international participatory cohort study collecting information directly from people with PCD. The baseline questionnaire inquired about tests used for PCD diagnosis. Using logistic regression, we investigated factors associated with measurement of nasal nitric oxide (nNO), biopsy for electron or video microscopy, and genetic testing. We included data from 747 participants (60% females) from 49 countries worldwide with median age 27 (interquartile range 12–44). Most (92%) reported diagnostic tests for PCD. Participants reported measurements of nNO (342; 49%), biopsy samples (561; 75%), and genetic tests (435; 58%). The reported use of individual tests, such as genetics, varied between countries from 38% in Switzerland to 68% in North America. Participant recall of test type also differed between countries with lowest recall in Switzerland. One-third (232; 36%) of participants reported all three tests (nNO, biopsy, and genetics). Recently diagnosed people reported more tests [nNO odds ratio (OR) 2.2, 95% Confidence Interval (CI) 1.5–3.2; biopsy OR 3.2, 95%CI 2.1–4.9; genetics OR 4.7, 95%CI 3.2–6.9] and those with situs abnormalities fewer tests (nNO OR 0.5, 95%CI 0.4–0.7; biopsy OR 0.5, 95%CI 0.4–0.8; genetics OR 0.7, 95%CI 0.5–0.94). Our results indicate PCD diagnostic testing differed widely around the world and many patients received incomplete diagnostic work-up based only on clinical features or single tests. People diagnosed long ago and those with situs abnormalities possibly benefit from supplementary testing to refine their diagnosis as a prerequisite for personalized medicine.

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Section: Discussionmentioning

confidence: 99%

Diagnostic testing in people with primary ciliary dyskinesia: an international participatory study

Schreck

Pedersen

Cizeau³

et al. 2023

Preprint

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“…Similarly in an Australian discrete choice experiment study, participants reported a reluctance to genetic testing when presented with higher costs and requirement to disclose results to health insurers (Goranitis et al 2020 ). It is important to account for the geographical location of patients, as the costs and insurance coverage can vary (Robillard et al 2021 ).…”

Section: Discussionmentioning

confidence: 99%

Short Communication: Lived experience perspectives on genetic testing for a rare eye disease

Tam,

Daboub,

Lou

et al. 2023

J Community Genet

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This qualitative study explored the motivators and barriers for genetic testing for individuals with aniridia. Semi-structured interviews were conducted with 8 participants. The main findings highlighted the complex and interrelated factors involved in the decision-making process, including family planning, learning about the specific pathogenic variant of the disease and having access to genetic testing. Benefits and potential risks of genetic testing for aniridia were also discussed. For participants, gaining knowledge about their condition was perceived as a benefit, while administrative issues and concerns around privacy were identified as risks. Increased access to quality information about genetic testing and to the service and associated resources are needed to better support people living with aniridia.

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“…Furthermore, given the retrospective nature of this study, there was no consistency in genetic evaluation; most patients had undergone targeted sequencing of PAX6, especially patients who underwent initial evaluation several decades ago. It is possible that mutations in other genes associated with anterior segment dysgeneses may have been missed, although this is becoming less common with recent advancements in whole exome sequencing [ 42 ].…”

Section: Discussionmentioning

confidence: 99%

Clinical outcomes and visual prognostic factors in congenital aniridia

Jacobson

Bohnsack

2022

BMC Ophthalmol

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Background Evaluate outcomes and identify prognostic factors in congenital aniridia. Methods Retrospective interventional case series of patients with congenital aniridia treated between 2012–2020. Ocular examination and surgical details were collected. Surgical failure was defined as disease progression or need for additional surgery for same/related indication. Kaplan–Meier survival curves, Wilcoxon test, and univariate and multivariate linear regression analyses were performed. Results Ninety-four patients with congenital aniridia presented at median 19.0 years. Two-thirds of patients underwent ≥ 1intraocular surgery, with average of 1.7 ± 2.3 surgeries/eye. At final follow-up (median 4.0 years), 45% of eyes had undergone lensectomy. Aphakic eyes showed worse visual acuity (VA) than phakic or pseudophakic eyes. Glaucoma affected 52% of eyes, of which half required IOP-lowering surgery. Glaucoma drainage devices showed the highest success rate (71%) at 14.2 ± 15.4 years of follow-up. Keratopathy affected 65% of eyes and one-third underwent corneal surgery. Keratoprosthesis had the longest survival rates at 10-years (64% with 95% CI [32,84]). LogMAR VA at presentation and final follow-up were not statistically different. Half of patients were legally blind at final follow-up. Final VA was associated with presenting VA, glaucoma diagnosis, and cataract or keratopathy at presentation. Penetrating keratoplasty and keratoprosthesis implantation correlated with worse BCVA. Conclusions Most aniridic patients in this large US-based cohort underwent at least 1 intraocular surgery. Cataract, glaucoma, and keratopathy were associated with worse VA and are important prognostic factors to consider when managing congenital aniridia.

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

Cited by 6 publications

References 21 publications

Diagnostic testing in people with primary ciliary dyskinesia: an international participatory study

Diagnostic testing in people with primary ciliary dyskinesia: an international participatory study

Short Communication: Lived experience perspectives on genetic testing for a rare eye disease

Clinical outcomes and visual prognostic factors in congenital aniridia

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