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Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic
The Multidisciplinary Ophthalmic Genetics Clinic (MOGC) at the University of Michigan Kellogg Eye Center aims to provide medical and ophthalmic genetics care to patients with inherited ocular conditions. We have developed a clinical and referral workflow where each patient undergoes coordinated eval...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048684/ https://www.ncbi.nlm.nih.gov/pubmed/36980998 http://dx.doi.org/10.3390/genes14030726 |
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author | Parekh, Bela Beil, Adelyn Blevins, Bridget Jacobson, Adam Williams, Pamela Innis, Jeffrey W. Barone Pritchard, Amanda Prasov, Lev |
author_facet | Parekh, Bela Beil, Adelyn Blevins, Bridget Jacobson, Adam Williams, Pamela Innis, Jeffrey W. Barone Pritchard, Amanda Prasov, Lev |
author_sort | Parekh, Bela |
collection | PubMed |
description | The Multidisciplinary Ophthalmic Genetics Clinic (MOGC) at the University of Michigan Kellogg Eye Center aims to provide medical and ophthalmic genetics care to patients with inherited ocular conditions. We have developed a clinical and referral workflow where each patient undergoes coordinated evaluation by our multidisciplinary team followed by discussions on diagnosis, prognosis, and genetic testing. Testing approaches are specific to each patient and can be targeted (single-gene, gene panel), broad (chromosomal microarray, whole-exome sequencing), or a combination. We hypothesize that this clinic model improves patient outcomes and quality of care. A retrospective chart review of patients in the MOGC from July 2020 to October 2022 revealed that the most common referral diagnoses were congenital cataracts, optic neuropathy, and microphthalmia, with 52% syndromic cases. Within this patient cohort, we saw a 76% uptake for genetic testing, among which 33% received a diagnostic test result. Our results support a tailored approach to genetic testing for specific conditions. Through case examples, we highlight the power and impact of our clinic. By integrating ophthalmic care with medical genetics and counseling, the MOGC has not only helped solve individual patient diagnostic challenges but has aided the greater population in novel genetic discoveries and research towards targeted therapeutics. |
format | Online Article Text |
id | pubmed-10048684 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-100486842023-03-29 Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic Parekh, Bela Beil, Adelyn Blevins, Bridget Jacobson, Adam Williams, Pamela Innis, Jeffrey W. Barone Pritchard, Amanda Prasov, Lev Genes (Basel) Article The Multidisciplinary Ophthalmic Genetics Clinic (MOGC) at the University of Michigan Kellogg Eye Center aims to provide medical and ophthalmic genetics care to patients with inherited ocular conditions. We have developed a clinical and referral workflow where each patient undergoes coordinated evaluation by our multidisciplinary team followed by discussions on diagnosis, prognosis, and genetic testing. Testing approaches are specific to each patient and can be targeted (single-gene, gene panel), broad (chromosomal microarray, whole-exome sequencing), or a combination. We hypothesize that this clinic model improves patient outcomes and quality of care. A retrospective chart review of patients in the MOGC from July 2020 to October 2022 revealed that the most common referral diagnoses were congenital cataracts, optic neuropathy, and microphthalmia, with 52% syndromic cases. Within this patient cohort, we saw a 76% uptake for genetic testing, among which 33% received a diagnostic test result. Our results support a tailored approach to genetic testing for specific conditions. Through case examples, we highlight the power and impact of our clinic. By integrating ophthalmic care with medical genetics and counseling, the MOGC has not only helped solve individual patient diagnostic challenges but has aided the greater population in novel genetic discoveries and research towards targeted therapeutics. MDPI 2023-03-15 /pmc/articles/PMC10048684/ /pubmed/36980998 http://dx.doi.org/10.3390/genes14030726 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Parekh, Bela Beil, Adelyn Blevins, Bridget Jacobson, Adam Williams, Pamela Innis, Jeffrey W. Barone Pritchard, Amanda Prasov, Lev Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic |
title | Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic |
title_full | Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic |
title_fullStr | Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic |
title_full_unstemmed | Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic |
title_short | Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic |
title_sort | design and outcomes of a novel multidisciplinary ophthalmic genetics clinic |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048684/ https://www.ncbi.nlm.nih.gov/pubmed/36980998 http://dx.doi.org/10.3390/genes14030726 |
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