Experiences of genetic testing among individuals with retinitis pigmentosa

Krauss, Emily; Macher, Jared; Capasso, Jenina E.; Ali-KhanCatts, Zohra; Levin, Alex V.; Brandt, Rachael

doi:10.1080/13816810.2022.2096243

Cited by 6 publications

(9 citation statements)

References 42 publications

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“…A 2022 cross-sectional survey of participants from a Japanese public hospital found that those who received positive results were more likely to have found benefits from testing than those who received a negative/inconclusive result, but both groups found genetic testing to be informative 14 . Qualitative studies have also found that, despite broadly positive views about genetic testing, receiving results is a complex emotional experience 15 and the associated psychosocial risks are not well defined 16 .…”

Section: Introductionmentioning

confidence: 99%

Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey

Britten-Jones,

Schultz,

Mack

et al. 2024

Sci Rep

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This study evaluated patient experiences with genetic testing for inherited retinal diseases (IRDs) and the association between underlying knowledge, testing outcomes, and the perceived value of the results. An online survey was distributed to adults with IRDs and parents/guardians of dependents with IRDs who had had genetic testing. Data included details of genetic testing, pre- and post- test perceptions, Decision Regret Scale, perceived value of results, and knowledge of gene therapy. Of 135 responses (85% from adults with IRDs), genetic testing was primarily conducted at no charge through public hospitals (49%) or in a research setting (30%). Key motivations for genetic testing were to confirm IRD diagnosis and to contribute towards research. Those who had received a genetic diagnosis (odds ratio: 6.71; p < 0.001) and those self-reported to have good knowledge of gene therapy (odds ratio: 2.69; p = 0.018) were more likely to have gained confidence in managing their clinical care. For over 80% of respondents, knowing the causative gene empowered them to learn more about their IRD and explore opportunities regarding clinical trials. Key genetic counselling information needs include resources for family communications, structured information provision, and ongoing genetic support, particularly in the context of emerging ocular therapies, to enhance consistency in information uptake.

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Section: Introductionmentioning

confidence: 99%

Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey

Britten-Jones,

Schultz,

Mack

et al. 2024

Sci Rep

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“…11 However, with the increasing availability of sponsored genetic testing programs, [12][13][14] it's likely that diagnostic genetic testing will be available to more patients with retinal diseases. Thus, there is an increasing need to enhance the genomics literacy of eye care professionals to meet patient needs, 15 manage expectations, 16 and support the integration of multidisciplinary care models. 17,18 Optometrists are usually patients' first point-of-contact in the healthcare system and play an essential role in identifying patients with retinal diseases, coordinating co-management, and providing long-term care.…”

Section: Introductionmentioning

confidence: 99%

“… 11 However, with the increasing availability of sponsored genetic testing programs, 12 , 13 , 14 it's likely that diagnostic genetic testing will be available to more patients with retinal diseases. Thus, there is an increasing need to enhance the genomics literacy of eye care professionals to meet patient needs, 15 manage expectations, 16 and support the integration of multidisciplinary care models. 17 , 18 …”

Section: Introductionmentioning

confidence: 99%

Genetic testing and gene therapy in retinal diseases: Knowledge and perceptions of optometrists in Australia and New Zealand

et al. 2023

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With advances in gene‐based therapies for heritable retinal diseases, primary eye care clinicians should be informed on ocular genetics topics. This cross‐sectional survey evaluated knowledge, attitudes, and concerns regarding genetic testing and gene therapy for retinal diseases among optometrists in Australia and New Zealand. Survey data included practitioner background, attitudes and practices towards genetic testing for monogenic inherited retinal disease (IRDs) and age‐related macular degeneration, and knowledge of ocular genetics and gene therapy. Responses were received from 516 optometrists between 1 April and 31 December 2022. Key perceived barriers to accessing genetic testing were lack of clarity on referral pathways (81%), cost (65%), and lack of treatment options if a genetic cause is identified (50%). Almost all respondents (98%) believed that ophthalmologists should initiate genetic testing for IRDs and fewer understood the role of genetic counsellors and clinical geneticists. This study found that optometrists in Australia and New Zealand have a high level of interest in ocular genetics topics. However, knowledge gaps include referral pathways and awareness of genetic testing and gene therapy outcomes. Addressing perceived barriers to access and promoting sharing of knowledge between interdisciplinary networks can set the foundation for genetic education agendas in primary eye care.

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“…BEST1 is an integral membrane protein known to function as a Ca 2+ activated and volume-regulated chloride channel localized to the basolateral membrane of retinal pigment epithelium (RPE) [ 8 ]. Mutations in BEST1 therefore affect RPE metabolism and cause a collection of bestrophinopathies, such as Best disease [ 9 ], adult-onset Best vitelliform macular dystrophy [ 10 ], ARB [ 11 ], Retinitis pigmentosa 50/concentric retinitis pigmentosa [ 12 ], autosomal dominant vitreoretinochoroidopathy (ADVIRC) [ 13 ] and microcornea, rod-cone dystrophy, cataract, and posterior staphyloma syndrome (MRCS) [ 14 ]. The clinical features of ARB include multifocal vitelliform deposits with subretinal fluid (SRF) and intraretinal fluid (IRF), hypermetropia, and shallow anterior chambers, which are predispositions to narrow-angle glaucoma may co-occur [ 15 ].…”

Section: Introductionmentioning

confidence: 99%

Autosomal recessive bestrophinopathy combined with neurofibromatosis type 1 in a patient

et al. 2023

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Background Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder that may affect multiple systems of the body. Autosomal recessive bestrophinopathy (ARB) is a rare retinal dystrophy caused by autosomal recessively mutations in bestrophin 1 (BEST1) gene. So far, we have not retrieved any case report of the same patient with both NF1 and BEST1 gene mutations. Case presentation An 8-year-old female patient with café-au-lait spots, freckling on skin presented to our ophthalmology clinic for routine ophthalmological examination. Her best corrected visual acuity (BCVA) was 20/20 in both eyes. Slit-lamp examination of both eyes revealed few yellowish-brown dome-shaped Lisch nodules over the iris surface. Fundus examination was notable for bilateral confluent yellowish subretinal deposits at macula, few yellow flecks at temporal retina, and cup-to-disc ratio of 0.2. Optical coherence tomography (OCT) revealed subretinal fluid (SRF) involving the fovea, elongated photoreceptor outer segments and mild intraretinal fluid (IRF) at bilateral macula. Fundus autofluorescence demonstrated hyperautofluorescence in the area corresponding to the subretinal deposits. Whole-exome sequencing and Sanger sequencing were used to investigate genetic mutation in the patient and her parents. A BEST1 gene heterozygous missense c.604 C > T (p.Arg202Trp) was identified in the patient and her mother. Also, the patient carries an NF1 nonsense mutation c.6637 C > T (p.Gln2213*) with the mosaic generalized phenotype. There were no visual impairments or obvious neurological, musculoskeletal, behavioral or other symptoms in this patient, so she was managed conservatively and advised to follow up regularly for a long time. Conclusions ARB and NF1, which are caused by two different pathogenic gene mutations, have rarely coexisted in the same patient. The discovery of pathogenic gene mutations may play a crucial role in more accurate diagnostics and genetic consultations for individuals and their families.

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Experiences of genetic testing among individuals with retinitis pigmentosa

Cited by 6 publications

References 42 publications

Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey

Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey

Genetic testing and gene therapy in retinal diseases: Knowledge and perceptions of optometrists in Australia and New Zealand

Autosomal recessive bestrophinopathy combined with neurofibromatosis type 1 in a patient

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