Developing Clinical Cancer Genetics Services in Resource-Limited Countries: The Case of Retinoblastoma in Kenya

He, Lin Qun; Njambi, L; Nyamori, Joesph M; Nyenze, Emmanuel M; Kimani, Kahaki; Matende, Ibrahim; Rono, Hillary; Njom, Victor; Bett, James; Mukuria, Mukiri; Gachago, M; Roberts, Hazel; Dimaras, Helen

doi:10.1159/000363645

Cited by 25 publications

(23 citation statements)

References 16 publications

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“…Clearly, study of social determinants of health, such as health seeking behaviour, perceptions of medical care, and sociocultural issues related to cancer inheritance would inform counselling approaches that meet the needs of families. 101 …”

Section: Diagnosis Screening and Preventionmentioning

confidence: 99%

Retinoblastoma

Dimaras

Corson

Cobrinik

et al. 2015

Nat Rev Dis Primers

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466

390

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Retinoblastoma is a rare cancer of the infant retina, which forms when both RB1 alleles mutate in a susceptible retinal cell, likely a cone photoreceptor precursor. Loss of the tumour suppressor functions of the retinoblastoma protein, pRB, leads to uncontrolled cell division and recurrent genomic changes during tumour progression. Although pRB is expressed in virtually all tissues, cone precursors have biochemical and molecular features that may sensitize to RB1 loss to enable tumourigenesis. Retinoblastoma is diagnosed in ~8,000 children each year worldwide. Patient survival is >95% in high-income countries, but <30% globally. However, outcomes are improving through increasing awareness for earlier diagnosis, new guidelines and sharing of expertise. Intra-arterial and intravitreal chemotherapy have emerged as promising methods to salvage eyes. Ongoing international collaborations will replace the multiple different classifications of eye involvement with standardized definitions to consistently assess eligibility, efficacy and safety of treatment options. Life-long follow-up is warranted since survivors of heritable retinoblastoma are at risk for developing second cancers. Defining the molecular consequences of RB1 loss in diverse tissues may open new avenues for treatment and prevention of retinoblastoma as well as second cancers in patients with germline RB1 mutations.

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Section: Diagnosis Screening and Preventionmentioning

confidence: 99%

Retinoblastoma

Dimaras

Corson

Cobrinik

et al. 2015

Nat Rev Dis Primers

Self Cite

466

390

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“…This study is the first to take a patient-centric approach to understanding the knowledge experiences, and attitudes on genetics amongst retinoblastoma survivors and their families in Kenya. The idea for this study arose from our previous research of clinician perspectives regarding the development of cancer genetic services for retinoblastoma; uncovering the patient perspective was identified as a possible route to informing and improving patient and family counseling (He et al 2014). The current study revealed that while most survivors and parents held misconceptions or had limited knowledge about retinoblastoma genetics, they felt that they required more information, and more simplified explanations, from healthcare teams.…”

Section: Discussionmentioning

confidence: 94%

“…Diagnosis of retinoblastoma in Kenya is often late, even in cases where family history of disease is known (Nyamori et al 2012b). The KNRbS group has generated interest in the development of cancer genetic services for retinoblastoma (He et al 2014;Hill et al 2015). Genetic testing for retinoblastoma is not available in Kenya as of yet, with rare families able to afford and access testing outside the country.…”

Section: Introductionmentioning

confidence: 99%

“…Genetic testing for retinoblastoma is not available in Kenya as of yet, with rare families able to afford and access testing outside the country. Genetic counseling is not an established profession in Kenya; in its absence, physicians treating retinoblastoma communicate genetic risks to their patients to the best of their abilities (He et al 2014). The KNRbS group published national guidelines for care, which include recommendations for genetic testing and counseling (Ministry of Health Kenya 2014).…”

Section: Introductionmentioning

confidence: 99%

“…Availability, access, and quality of genetic services varies in low-and-middle-income countries (LMICs) (Hawkins and Hayden 2011;He et al 2014;Hill et al 2015). This is in part attributable to a false impression that genetic services are irrelevant for LMICs (Wonkam et al 2010), leading to a diversion of resources away from this important health need.…”

Section: Introductionmentioning

confidence: 99%

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“Where Does it Come from?” Experiences Among Survivors and Parents of Children with Retinoblastoma in Kenya

Gedleh

Lee

Hill

et al. 2017

Journal of Genetic Counseling

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Genetic testing and counseling have become integral to the timely control of heritable cancers, like the childhood eye cancer retinoblastoma. This study aimed to determine attitudes, knowledge and experiences related to retinoblastoma genetics, among survivors and parents of children with retinoblastoma in Kenya. This qualitative study used focus groups as the primary data collection method, coupled with a brief demographic questionnaire. Study settings were Kenyatta National Hospital and Presbyterian Church of East Africa Kikuyu Hospital. Thematic analysis was used to identify key themes. Thirty-one individuals participated in five focus groups. Two main concepts emerged: (1) the origins of retinoblastoma are unclear, and (2) retinoblastoma is associated with significant challenges. The lack of clarity surrounding the origins of retinoblastoma was linked to limited knowledge of retinoblastoma genetics, and limited genetic counseling delivery and uptake. The challenges associated with retinoblastoma were discussed in terms of the impact of the diagnosis on individuals and families, and unmet healthcare needs related to the diagnosis. Next steps will incorporate these findings to develop evidence-informed and accessible cancer genetic services in Kenya.

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The introduction of clinical genetic testing in Ethiopia: Experiences and lessons learned

Quinonez

Terefework²

2021

American J of Med Genetics Pt A

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Limited data are available on genetic testing laboratories in low-and middle-income countries including those in sub-Saharan Africa (SSA). To characterize the need for genetic testing in SSA we describe the experience of MRC-ET Advanced Laboratory, a genetic testing laboratory in Ethiopia. Test results were analyzed based on indication(s) for testing, referral category, and diagnostic yield. A total of 1311 tests were run using the full MRC-Holland catalogue of Multiplex-Ligation Probe Amplification assays. Of all samples, 77% were postnatal samples, 15% products of conception (POC), and 8% amniotic samples. Of postnatal samples, the most common testing categories were multiple congenital anomalies (32%), disorders of sex development (17%), and Obstetrics/Gynecology (16%). Forty-three percent of postnatal samples were diagnostic, 11% were variants of uncertain significance (VUS), and 46% were normal with Trisomy 21 the most common diagnosis. Of POC samples, 10% were diagnostic, 34% revealed VUSs, and 55% were normal with Trisomy 18 the most common diagnosis. Of amniotic samples 17.5% were diagnostic, 3% revealed VUSs, and 79% were normal with Trisomy 18 the most common diagnosis. There is increasing demand for genetic testing in Ethiopia. Diagnostic genetic testing in SSA deserves increased attention as testing platforms become more affordable.

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Developing Clinical Cancer Genetics Services in Resource-Limited Countries: The Case of Retinoblastoma in Kenya

Cited by 25 publications

References 16 publications

Retinoblastoma

Retinoblastoma

“Where Does it Come from?” Experiences Among Survivors and Parents of Children with Retinoblastoma in Kenya

The introduction of clinical genetic testing in Ethiopia: Experiences and lessons learned

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