Inherited Retinal Disease Panels—Caveat Emptor—Truly Know Your Inherited Retinal Disease Panel

Pulido, José S.; Procopio, Rebecca; Davila, Hiram J; Bello, Nicholas R.; Ku, Cristy A.; Pennesi, Mark E.; Yang, Paul; Nagiel, Aaron; Mahroo, Omar A.; Alemán, Tomás S.; Salido, Ezequiel M; Reynolds, Margaret

doi:10.1097/iae.0000000000003319

Cited by 4 publications

(4 citation statements)

References 12 publications

(15 reference statements)

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“…This combination of an increased need for testing and increased access has resulted in an excess number of tests and patients who would benefit from testing with a shortage of skilled providers to order and interpret the results. For ophthalmologists, these needs can be overwhelming [ 1 , 2 ].…”

Section: Discussionmentioning

confidence: 99%

“…Obtaining a genetic diagnosis for ocular disease involves developing a genetic testing strategy that is comprehensive and cost-effective. In recent years, next-generation sequencing and other molecular and cytogenetic diagnostic modalities have become more accessible and affordable [ 1 , 2 ]. Subsequently, the number of commercial laboratories and options for genetic tests has increased.…”

Section: Introductionmentioning

confidence: 99%

“…Subsequently, the number of commercial laboratories and options for genetic tests has increased. Gene panels can vary in content and coverage, as we and others have evaluated in inherited retinal disease (IRD) [ 1 , 2 ]. Several options for sponsored or no-charge gene panels are available for IRD, making it easier than ever for clinicians to obtain genetic information.…”

Section: Introductionmentioning

confidence: 99%

“…Sponsored panels are emerging in these spaces as well, and awareness of the similarities and differences in testing options is important for clinical care and practice. Using the methodology from our previous publication on IRD panels, we sought to compare gene panels for other ophthalmic indications [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

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Comparing Gene Panels for Non-Retinal Indications: A Systematic Review

Procopio

Pulido

Gunton

et al. 2023

Genes

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Importance: The options for genetic testing continue to grow for ocular conditions, including optic atrophy, anterior segment dysgenesis, cataracts, corneal dystrophy, nystagmus, and glaucoma. Gene panels can vary in content and coverage, as we and others have evaluated in inherited retinal disease (IRD). Objective: To describe gene panel testing options for inherited eye disease phenotypes and their differences. This review is important for making diagnostic decisions. Evidence review: A licensed, certified genetic counselor (RP) used Concert Genetics and the search terms optic atrophy, corneal dystrophy, cataract, glaucoma, anterior segment dysgenesis, microphthalmia/anophthalmia, and nystagmus to identify available testing options performed by CLIA-certified commercial genetic testing laboratories. Other co-authors were surveyed with respect to genetic panels used for the indications of interest. Ophthalmic panels were then compared using Concert Genetics in addition to their own websites. Findings: Panels from each clinical category were included and summarized. This comparison highlighted the differences and similarities between panels so that clinicians can make informed decisions. Conclusions: Access to genetic testing is increasing. The diagnostic yield of genetic testing is increasing. Each panel is different, so phenotyping or characterizing clinical characteristics that may help predict a specific genotype, as well as pre-test hypotheses regarding a genotype, should shape the choice of panels.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Comparing Gene Panels for Non-Retinal Indications: A Systematic Review

Procopio

Pulido

Gunton

et al. 2023

Genes

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RP1-associated recessive retinitis pigmentosa caused by paternal uniparental disomy

Bedoukian

O’Neil

Alemán

2022

Ophthalmic Genetics

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The genetic counselor workforce in inherited retinal disease clinics: a descriptive assessment

Alabek,

Andersen,

Everett

et al. 2023

Ophthalmic Genetics

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Average full-time equivalent (FTE) dedicated to IRDs among the 7/9 respondents who provided this data was 0.91; the range was 0.7 -1.0 FTE, with three of these respondents (43%) reporting the latter. This is slightly higher than the average reported FTE spent in a GC's primary area of practice for all GCs and GCs whose primary area of practice was ophthalmology, which were 78% and 84% respectively. Some respondents indicated that the remainder of their time was dedicated only to non-retinal ocular indications, while others did not specify. Faculty AppointmentThree respondents (33%) reported that they have a faculty appointment at their institution. Of the 6 who do not have a faculty appointment, 4 indicated that GCs are not eligible for faculty at their institution, 1 indicated they did not think non-MD/PhD are eligible for faculty at their institution, and 1 indicated that they had never investigated whether or not this is an option for GCs at their institution. SalaryEight of nine respondents opted to provide salary information, with an average reported salary of $89,750. This is in line with the average reported salary for direct care positions ($86,766) but is lower than the average reported salary for genetic counselors working in positions with clinical and non-clinical responsibilities ($103,497). It may be speculated that this may be due to ascertainment bias of respondents working academic positions.

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Inherited Retinal Disease Panels—Caveat Emptor—Truly Know Your Inherited Retinal Disease Panel

Cited by 4 publications

References 12 publications

Comparing Gene Panels for Non-Retinal Indications: A Systematic Review

Comparing Gene Panels for Non-Retinal Indications: A Systematic Review

RP1-associated recessive retinitis pigmentosa caused by paternal uniparental disomy

The genetic counselor workforce in inherited retinal disease clinics: a descriptive assessment

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