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The Ocular Genetics Program: multidisciplinary care of patients with ocular genetic eye disease Yair Morad, MD; Joanne Sutherland, MSc; Lisa DaSilva; Alissa Ulster, MSW; John Shik, MD; Brenda Gallie, MD, FRCSC; Elise Héon, MD, FRCSC; Alex V. Levin, MD, MHSc, FRCSC ABSTRACT • RÉSUMÉ

Background: Patients who suffer from ocular genetic diseases have special needs in terms of diagnosis and management of rare entities, low-vision needs, genetic counselling, and psychosocial adjustments that are usually not addressed by an ophthalmologist alone.The Ocular Genetics Program (OGP) at the Hospital for Sick Children,Toronto, was established in 1994 to provide comprehensive, multidisciplinary care of patients with inherited eye disorders.We now assess the benefits of such a program and of integrating research into the care of patients. Methods: We report our experience in developing a multidisciplinary ocular genetics program and the results of a pilot patient satisfaction survey that involved 61 patients. Results:The OGP multidisciplinary aspects are described. Of the 61 patients surveyed, 98% stated that they were satisfied with the OGP; 93%–96% of patients were content with “one day of appointments”,“understanding of eye problem”, and “coordination of ancillary tests such as visual fields test, electrophysiology, and others”; and for 70%–86% of respondents “waiting time to get an appointment”, “information received on current research”, and “primary health care provider adequately informed” were satisfactory. Interpretation: The OGP is a unique service in Canada, which strives to provide the comprehensive care needed by ocular genetic patients. High patient satisfaction is an indicator of the success of this approach. Long waiting times for appointments and application of laboratory research in clinical care remain challenging. Contexte : Les patients qui souffrent d’une maladie oculaire d’ordre génétique ont des besoins particuliers en matière de diagnostic et de gestion d’entités rares, de déficience visuelle, de conseils génétiques et de rajustements psychosociaux que l’ophtalmologiste n’aborde ordinairement pas seul. Le programme de génétique oculaire (PGO) de l’Hospital for Sick Children, institution pédiatrique de Toronto, a été créé en 1994 pour prodiguer des soins compréhensifs et multidisciplinaires aux patients ayant une maladie oculaire héréditaire. Nous évaluons les bienfaits du programme et les avantages de l’intégration de la recherche aux soins des patients. Méthodes : Nous décrivons l’expérience que nous avons vécue lors de la création du programme de génétique oculaire ainsi que les résultats d’un sondage pilote sur la satisfaction des patients, effectué auprès de 61 personnes. Résultats : Les aspects multidisciplinaires du PGO sont décrits. Parmi les 61 patients interrogés, 98 % se sont dits satisfaits du PGO; 93 % à 96 % se sont dits contents des « rendez-vous d’une journée », de la « compréhension du problème oculaire » et de la « coordination des tests complémentaires, tels celui des champs visuels, l’électrophysiologie et autres »; 70 % à 86 % des répondants ont trouvé satisfaisants la « durée d’attente pour obtenir un rendez-vous », « l’information reçue sur la recherche en cours » et le « caractère adéquat de l’information transmise aux préposés aux soins primaires ». Interprétation : Le PGO, qui est unique en son genre au Canada, s’efforce de fournir toute la gamme des soins dont ont besoin les patients atteints d’une maladie oculaire d’ordre génétique. Le degré élevé de satisfaction des patients indique la réussite de cette approche. Le défi demeure quant au délai d’attente des rendez-vous et l’application de la recherche de laboratoire aux soins cliniques.

O

f the approximately 4000 genetic diseases and syndromes known to affect humans, one-third involve the eye.1 Genetic disease is the most common cause of

blindness in infants and children in developed countries, accounting for approximately 50% of all childhood onset blindness.2 A recent review listed over 190 heritable dis-

From the Department of Ophthalmology and Vision Sciences, Hospital for Sick Children, University of Toronto, Ont.

Correspondence to: Alex V. Levin, MD, Department of Ophthalmology, Hospital for Sick Children, M158, 555 University Ave., Toronto, ON M5G 1X8; [email protected]

Originally received Nov. 17, 2006. Revised Apr. 22, 2007 Accepted for publication May 1, 2007 Published online Sep. 13, 2007

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This article has been peer-reviewed. Cet article a été évalué par les pairs. Can J Ophthalmol 2007;42:734–8 doi: 10.3129/can j ophthalmol.i07-144

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Ocular Genetics Program at HSC—Morad et al. orders of the eye.3 Knowledge of the molecular basis of ocular genetic disorders has increased significantly during the last 2 decades, a vast amount of new data appearing continuously in the medical literature, some of which may be well known to the general ophthalmologist. Patients with inherited eye disorders and their families have complex needs, which include clinical services for diagnosis and management and social and genetic counselling to help them cope with the disease. Some patients will also have associated systemic disease. Comprehensive ophthalmologic care for diagnosis and management include electrophysiology testing, ocular imaging, genetic information and counselling, low-vision services, support groups, resource and financial counselling, social work intervention, and access to new research findings. Although these services usually exist in most modern academic health care centres, they are often offered by different health care providers not working in the same setting and sometimes not even in the same hospital, which may cause duplication of efforts and burden to the families. Research on inherited eye disease is costly and time-consuming and dependent on access to patients. Clinical application of research results (translational medicine) is slow and inhibited by lack of process to translate research results, despite evidence of improved quality of care and cost-effectiveness. The Ocular Genetics Program

With these concerns in mind, The Hospital for Sick Children (HSC), in Toronto, saw the potential benefit of implementing a multidisciplinary team approach to ocular genetic patient care. The Ocular Genetics Program (OGP) was established at HSC in October 1995 under the leadership of two of the authors (Brenda Gallie, Alex V. Levin). The program objectives include (i) provision of essential comprehensive services in 1 location in a minimum number of visits, (ii) integration of leading-edge molecular diagnosis with health care delivery, (iii) advancement of the understanding of genetic eye disease by research into the genetic causes, and (iv) provision of cost-effective care by optimizing the use of alternative care-givers and consolidating diverse resources. By October 2004, the OGP was caring for more than 6000 families in which at least 1 family member was afflicted with a genetic eye disease or was referred for an ophthalmic condition that subsequently proved to be nongenetic (e.g., Sturge–Weber syndrome, see Table 1). The OGP consists of ophthalmologists, a clinical coordinator–ophthalmic assistant (Lisa DaSilva), a genetic counsellor (Joanne Sutherland), and a social worker (Alissa Ulster). The initial ophthalmologists included a clinician–scientist retinoblastoma specialist (Brenda Gallie) and a clinician who cares for all other genetic eye diseases (Alex V. Levin). As volumes rose, it became necessary to recruit a third ophthalmologist (Elise Héon), a clinician–scientist who cares for patients with

retinoblastoma and all other ocular genetic disorders. A genetic counsellor with experience in our hospital’s molecular laboratory (Joanne Sutherland) and paediatric social worker were hired. Although they had no prior experience with ocular disease, they gained necessary skills by visiting support groups (e.g., the National Organization for Albinism and Hypopigmentation, Foundation Fighting Blindness), low-vision resource centres, the Canadian National Institute for the Blind, and the W. Ross MacDonald School for the Blind and by interviewing patients with genetic ocular conditions about issues related to their eye disease. A longstanding employee of our Department of Ophthalmology and a certified ophthalmic assistant, the clinical coordinator (Lisa DaSilva) is responsible for coordinating all team activities, including arranging all care for retinoblastoma cases, team meetings, and administration of the ocular genetics clinics. She also serves as the key primary contact person for patients, family members, and health care professionals. The OGP is located within the Department of Ophthalmology at HSC and shares the departmental resources. New referrals are triaged by one of the ophthalmologists (Alex V. Levin or Elise Héon) by urgency. Additional tests (electrophysiology, visual fields) are also ordered if needed. Ongoing research protocols appropriate for the patient are described, and, if the patient is interested in participating, the informed consent process is initiated. During the telephone interview, the genetic counsellor asks the patient or parents about their concerns or the information they hope to gain during their clinic visit. On the appointment day, after examination by the Table 1—Genetic eye disorders seen by the Ocular Genetics Program, Toronto, 1995–2006 No. of probands Genetic eye disorder 1736

Retinal dystrophies: retinitis pigmentosa (683), cone–rod dystrophies (134), Stargardt (107), Leber's congenital amaurosis (82), macular dystrophies (79), X-linked retinal schisis (35), choroideremia (32), unknown types Syndromes: Usher (108), Stickler (49), Bardet Biedl (44), other

499

Cataracts (paediatric)

457

Retinoblastoma

391

Neurofibromatosis

278

Albinism (including Hermansky–Pudlak syndrome)

204

Glaucoma (paediatric)

152

Craniofacial Developmental eye disorders (e.g., coloboma, aniridia, Peters’ anomaly, Axenfeld–Rieger)

136 92

Marfan

70

Strabismus

83

Nystagmus

59 58

Cornelia de Lange Persistent hyperplastic primary vitreous (44) and familial exudative vitro-retinopathy (14)

39

Ectopia lentis

75

Developmental delay (cause unknown)

53

Archromatopsia (41) and other colour blindness

25

Sturge-Weber

30

Congenital stationary night blindness Optic neuropathy, optic atrophy (41), Leber's hereditary optic neuropathy (12)

109 52 68

Chromosome anomalies Coats disease and other disorders have 92% of RB1 germline mutations in probands in 6 weeks. Despite this valuable application of Canadian science in health care, some provincial Ministries of Health are hesitant to supply coverage for this clinically and economically beneficial test. To our knowledge, ours is the only program of this kind in Canada, although there are similar programs elsewhere in the world. We are unable to compare our experience with other centres, as we do not have access to their internal structures or evaluations. To our knowledge this information is not yet in the peer-reviewed literature. We are hopeful that our paper will “lead the way” in this regard and allow for centres to better learn from each other. In the meantime we continue to shape our program to match the needs of our patient population. More extensive survey assessments, such as the pilot survey reported here, will be used in the hope of continued quality assurance. The OGP is a novel initiative to optimize medical care for patients with ocular genetic diseases. It has a cohesive structure, which covers many aspects of patient needs. High rates of patient satisfaction on a pilot survey and high numbers of referrals suggest clinical success. However, the challenges of optimizing care, incorporating genetic testing, and decreasing waiting time for consultation remain.

Funded in part by Brandan’s Eye Research Fund.

Supplementary data for this paper can be found on the CJO Web site at http://pubs.nrc-cnrc.gc.ca/cjo/i07-144suppl.pdf.

Key words: ocular genetics, eye disease, multidisciplinary, inherited eye disorder

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The authors gratefully acknowledge the contributions of our Research Manager, Erica Bell, and Research Assistant, Charmaine DeSouza. The authors have no proprietary interest in any aspect of this article.

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