Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunities

Estrada-Veras, Juvianee; Cabrera‐Peña, Giselle A.; Ferrán, Ceila Pérez‐Estrella de

doi:10.1002/mgg3.224

Cited by 12 publications

(16 citation statements)

References 28 publications

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“…Although West Indian nations are currently attempting to build capacity for genetic testing, 8 overall, this type of service is lacking. 9 , 10 To our knowledge, ours is only the second report of SCA3 in this region, the first being by Gwinn-Hardy et al, 11 who described genetic diagnosis of SCA3 in a family residing in the UK and USA following immigration from Antigua. Apart from a cluster of families with SCA2 documented in the Holguin province of Cuba 12 – 14 and a cluster of families on Martinique, 15 , 16 there have not been any other reports of any of the SCAs in the Caribbean region.…”

Section: Discussionmentioning

confidence: 69%

“…Although West Indian nations are currently attempting to build capacity for genetic testing,8 overall, this type of service is lacking 9,10. To our knowledge, ours is only the second report of SCA3 in this region, the first being by Gwinn-Hardy et al,11 who described genetic diagnosis of SCA3 in a family residing in the UK and USA following immigration from Antigua.…”

Section: Discussionmentioning

confidence: 99%

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Diagnosis of Spinocerebellar Ataxia in the West Indies

Yearwood

Rethi

Figueroa

et al. 2018

Tremor and Other Hyperkinetic Movements

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Section: Discussionmentioning

confidence: 69%

Section: Discussionmentioning

confidence: 99%

Diagnosis of Spinocerebellar Ataxia in the West Indies

Yearwood

Rethi

Figueroa

et al. 2018

Tremor and Other Hyperkinetic Movements

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“…Although West Indian nations are currently attempting to build capacity for genetic testing, 8 overall, this type of service is lacking. 9,10 To our knowledge, ours is only the second report of SCA3 in this region, the first being by Gwinn-Hardy et al, 11 who described genetic diagnosis of SCA3 in a family residing in the UK and USA following immigration from Antigua. Apart from a cluster of families with SCA2 documented in the Holguin province of Cuba 12-14 and a cluster of families on Martinique, 15,16 there have not been any other reports of any of the SCAs in the Caribbean region.…”

Section: Discussionmentioning

confidence: 72%

Diagnosis of Spinocerebellar Ataxia in the West Indies

Yearwood¹,

Rethi²,

Figueroa³

et al. 2018

Tremor and Other Hyperkinetic Movements

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Background: Access to medical care in many regions is limited by socioeconomic status, at both the individual and the community level. This report describes the diagnostic process of a family residing on an underserved Caribbean island where routine neurological care is typically addressed by general practitioners, and genetic diagnosis is not available through regular medical channels. The diagnosis and management of neurodegenerative disorders is especially challenging in this setting.Case Report: We diagnosed a family with spinocerebellar ataxia type 3 (SCA3) in an underdeveloped nation with limited access to genetic medicine and no full-time neurologist.Discussion: Molecular diagnosis of the SCAs can be challenging, even in developed countries. In the Caribbean, genetic testing is generally only available at a small number of academic centers. Diagnosis in this family was ultimately made by utilizing an international, pro bono, research-based collaborative process.Although access to appropriate resources, such as speech, physical, and occupational therapies, is limited on this island because of economic and geographical factors, the provision of a diagnosis appeared to be ultimately beneficial for this family. Identification of affected families highlights the need for access to genetic diagnosis in all communities, and can help direct resources where needed.

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“…These ndings reveal that individuals in the DR are interested in meeting with a genetic counselor and would likely utilize genetic counseling services if they were readily accessible. Genetic counseling, however, is not yet recognized as an independent eld within the DR 13 nor in the vast majority of Latin America 12 . As of 2016, only one out of 1,853 public health facilities in the DR had a dedicated clinical genetics service and, outside of this facility, genetic counseling was provided by a limited number of physicians with little to no formal training in medical genetics 13 .…”

Section: Interest In Genetic Testing and Counselingmentioning

confidence: 99%

“…Genetic counseling, however, is not yet recognized as an independent eld within the DR 13 nor in the vast majority of Latin America 12 . As of 2016, only one out of 1,853 public health facilities in the DR had a dedicated clinical genetics service and, outside of this facility, genetic counseling was provided by a limited number of physicians with little to no formal training in medical genetics 13 . This illustrates an immense gap between the need for and interest in genetic counseling services and local availability, which underscores the importance of the expansion of genetic services in other countries.…”

Section: Interest In Genetic Testing and Counselingmentioning

confidence: 99%

Readiness for Parkinson's Disease Genetic Testing and Counseling in Patients and Their Relatives in the Dominican Republic

Hodges

Hackl

Cook

et al. 2023

Preprint

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Genetic testing for Parkinson’s disease (PD) is increasing globally, and genetic counselors serve as a resource to provide information about PD and genetic testing. However, genetic counseling is not yet recognized as an independent profession in most of Latin America and, despite PD having the highest incidence among Hispanic populations, studies have found that Hispanic individuals are underrepresented in PD and genomic research. Understanding what Hispanic individuals know about PD, genetic testing for PD, and their interest in speaking with a genetic counselor is crucial when assessing readiness for genetic testing and counseling. In this cross-sectional study, a mixed-methods survey was distributed to people with Parkinson’s disease (PwP) and their unaffected biological relatives in the Dominican Republic (DR). Survey questions assessed genetics knowledge, attitude toward genetic testing, and interest in genetic testing and counseling. Most participants (69%) scored the maximum on the attitude scale, indicating an overall positive attitude toward genetic testing. Furthermore, 95% indicated interest in genetic testing for PD, and 98% were at least somewhat interested in meeting with a genetic counselor. The mean PD genetics knowledge score was similar to previously published data. Through free responses, participants expressed a desire to know more about PD treatment and management, prevention, cause, and their personal risk for PD. These results emphasize the importance of building genetic testing and counseling capacities in low- and middle-income Hispanic countries like the Dominican Republic.

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Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunities

Abstract: Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunities.

Cited by 12 publications

References 28 publications

Diagnosis of Spinocerebellar Ataxia in the West Indies

Diagnosis of Spinocerebellar Ataxia in the West Indies

Diagnosis of Spinocerebellar Ataxia in the West Indies

Readiness for Parkinson's Disease Genetic Testing and Counseling in Patients and Their Relatives in the Dominican Republic

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