Genetic tests for low- and middle-income countries: a literature review

Maltese, Paolo Enrico; Poplavskaia, E.; Malyutkina, I.; Sirocco, F.; Bonizzato, Alberto; Capodicasa, Natale; Nicoulina, Svetlana; Salmina, Alla; Aksutina, N. V.; Dündar, Munis; Beccari, Tommaso; Cecchin, Stefano; Bertelli, Matteo

doi:10.4238/gmr16019466

Cited by 11 publications

(10 citation statements)

References 36 publications

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“…However, there has been discussion on whether in low-resource and developing countries, such as Mexico, is it feasible to implement them in clinical care and whether they can be accessible to the entire population. 23 In this sense, we decided to implement this program to try to directly impact on the clinical area and narrow the gap between genetic data and their clinical implementation, involving physicians, psychologists and support staff that regularly looks after the patient. Unfortunately, even when the program is operating in four different centers of the country, further efforts are required in order for it to be able impact on other places and be economically accessible to the entire population at risk, since the higher the demand, the lower the costs.…”

Section: Discussionmentioning

confidence: 99%

Program for APOE-E4 allele detection in a Mexican population of older patients with cognitive impairment

Genis‐Mendoza¹,

Martínez‐Magaña²,

Bojórquez³

et al. 2023

GMM

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According to the Diagnostic and Statistical Manual of Mental Disorders fifth edition (DSM-5), NCDs can be divided in major and minor disorders according to the level of functional capacity preservation or compromise; cognitive impairment should not be present since birth or early in life, and should involve at least two or more cognitive domains (attention, executive, learning and memory functions, language, visual perceptual skills, social cognition).Based on these criteria, said manual recognizes the following NCDs: Alzheimer's disease (AD)-associated, frontotemporal, Lewy body, vascular, traumatic brain injury-associated, human immunodeficiency virus infection,

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Section: Discussionmentioning

confidence: 99%

Program for APOE-E4 allele detection in a Mexican population of older patients with cognitive impairment

Genis‐Mendoza¹,

Martínez‐Magaña²,

Bojórquez³

et al. 2023

GMM

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“…Sin embargo, se ha discutido si en países de bajos recursos y en desarrollo, como México, es factible implementarlas en la atención clínica y si pueden ser accesibles para toda la población. 23 En este sentido, decidimos implementar este programa para tratar de incidir directamente en el área clínica y hacer más corta la brecha entre los datos genéticos y su implementación clínica, involucrando a los médicos, psicólogos y personal de apoyo que cuidan regularmente al paciente. Desafortunadamente, aun cuando el programa está funcionando en cuatro centros distintos del país, se requieren más esfuerzos para que pueda incidir en otros lugares y sea accesible económicamente a toda la población en riesgo, ya que a mayor demanda, costos más bajos.…”

Section: Discussionunclassified

Programa de detección del alelo APOE-E4 en adultos mayores mexicanos con deterioro cognitivo

Genis‐Mendoza

Martínez‐Magaña

Bojórquez

et al. 2018

GMM

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Introducción: En México, la prevalencia de los trastornos neurocognitivos (TNC) han aumentado a la par del incremento en la esperanza de vida. El alelo E4 del gen que codifica la apolipoproteína E (APOE) es el principal factor de riesgo genético para deterioro neurocognitivo. Objetivo: Reproducir la asociación en población mexicana entre APOE-E4 y el deterioro neurocognitivo, así como implementar un programa de detección de riesgo genético con el alelo APOE-E4. Método: Se estructuró un programa de detección de riesgo basado en APO-EA en diferentes centros de reclutamiento en la zona centro de la República Mexicana, con tres etapas: reclutamiento y selección de los candidatos para la detección del alelo de riesgo, análisis del riesgo genético y entrega del resultado. Resultados: El análisis de asociación genética para replicar la asociación con trastornos neurocognitivos mediante modelos logísticos multivariados mostró que el alelo E4 de APOE incrementó aproximadamente 6 % el riesgo en población mexicana (RM = 5.83, p = 0.0025). Se entregaron 367 resultados de riesgo genético. Conclusiones: El presente programa es el primero en México implementado para dar a conocer un factor de riesgo genético para trastornos neurocognitivos en varios centros del país.

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“…Proposed approaches to implementing genetic testing in LMICs emphasize providing clinically useful and cost-effective services tailored to fit the needs of the given population. Strategies include targeted testing for founder variants in genes associated with medically actionable autosomal recessive nephropathies that have high prevalence in the region (for example, screening of the MEFV gene, associated with familial Mediterranean fever (OMIM 134610, 249100), in the southeast Mediterranean 267 ) and focused NGS panels containing the genes that are most commonly mutated in the disorder (for example, a panel including NPHS1, NPHS2 , and WT1 for suspected hereditary early-onset nephrotic syndrome). Although WES or WGS are becoming the standard for work-up of undiagnosed disorders, the high cost and limited availability of these technologies are substantial barriers to their use in LMICs.…”

Section: Ethical Legal and Social Implicationsmentioning

confidence: 99%

Genomic medicine for kidney disease

2018

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Technologies such as next-generation sequencing and chromosomal microarray have advanced the understanding of the molecular pathogenesis of a variety of renal disorders. Genetic findings are increasingly used to inform the clinical management of many nephropathies, enabling targeted disease surveillance, choice of therapy, and family counselling. Genetic analysis has excellent diagnostic utility in paediatric nephrology, as illustrated by sequencing studies of patients with congenital anomalies of the kidney and urinary tract and steroid-resistant nephrotic syndrome. Although additional investigation is needed, pilot studies suggest that genetic testing can also provide similar diagnostic insight among adult patients. Reaching a genetic diagnosis first involves choosing the appropriate testing modality, as guided by the clinical presentation of the patient and the number of potential genes associated with the suspected nephropathy. Genome-wide sequencing increases diagnostic sensitivity relative to targeted panels, but holds the challenges of identifying causal variants in the vast amount of data generated and interpreting secondary findings. In order to realize the promise of genomic medicine for kidney disease, many technical, logistical, and ethical questions that accompany the implementation of genetic testing in nephrology must be addressed. The creation of evidence-based guidelines for the utilization and implementation of genetic testing in nephrology will help to translate genetic knowledge into improved clinical outcomes for patients with kidney disease.

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Genetic tests for low- and middle-income countries: a literature review

Cited by 11 publications

References 36 publications

Program for APOE-E4 allele detection in a Mexican population of older patients with cognitive impairment

Program for APOE-E4 allele detection in a Mexican population of older patients with cognitive impairment

Programa de detección del alelo APOE-E4 en adultos mayores mexicanos con deterioro cognitivo

Genomic medicine for kidney disease

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