Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic

Abstract

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.

Improving the Yield of Genetic Diagnosis through Additional Genetic Panel Testing in Hereditary Ophthalmic Diseases

“…Consequently, they may undergo unnecessary brain imaging or numerous other investigations before arriving at a correct diagnosis [57]. For instance, Parekh and colleague [58] have established a clinical and referral workflow wherein each patient undergoes a coordinated evaluation by our multidisciplinary team, followed by discussions on diagnosis, prognosis, and genetic testing. The most frequently encountered referral diagnoses were congenital cataracts, optic neuropathy, and microphthalmia, with syndromic cases accounting for 52%.…”

The Role of the Ophthalmic Genetics Multidisciplinary Team in the Management of Inherited Retinal Degenerations—A Case-Based Review

“…Despite having no children, the AR nature MFRP-retinopathy allowed for genetic counselling of family members regarding carrier status and low risk of transmission to their offspring, though variants in MFRP and other loci have been implicated as modifiers of isolated hyperopia [18]. Finally, this diagnosis brought closure for the patient and ended the so-called 'diagnostic odyssey', of over 10 years, so familiar to patients with suspected IRDs [5,6,13].…”

“…The aforementioned cases illustrate the benefits of a coordinated OG-MDT and justify including this service in centres seeing patients with IRD and other rare heritable eye conditions. Without the central coordination and collaborative approach, this high level of diagnostic and therapeutic harmony would not be possible [5,9,12]. Collaborative team expertise, such as those capitalised upon and developed within a structured patient-specific MDT framework, can achieve results beyond that of the individual, while evolving new knowledge and skills in the process [46].…”

“…In addition the variable visual impacts of IRDs, many patients also have retinal degeneration as part of a syndromic condition with multi-system involvement (e.g., deafness in Usher syndrome or neurological manifestations in spinocerebellar ataxia) [4]. The now well documented burden of disease highlights the importance of appropriate personalized management, care, and research into treatments for these patients [5][6][7][8][9][10].…”

“…As previously alluded to, the complexity of IRDs result in the need for coherent, collaborative multidisciplinary input to achieve optimal patient outcomes. With this in mind, it should be noted that fragmented and poorly optimised care for IRD patients, delivered by various healthcare providers across multiple disparate facilities, represents an inefficient use of resources, delays accurate diagnosis, may introduce miscommunication placing further strain on patients and their families [5,9,12]. In our experience, a structured ophthalmic genetics multidisciplinary team (OG-MDT) approach with regular hybrid meetings (i.e., in-person and remote) has facilitated optimal patient care with best use of available resources, while garnering required expert multisystem opinions.…”