Clinical Cancer Genetics in a Lower-Middle Income Country: Considerations for Policymaking

Ginsburg, Ophira; Narod, Steven A.

doi:10.1200/jgo.18.00081

Cited by 3 publications

(3 citation statements)

References 7 publications

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“…There are many other health services, such as IVF and screening colonoscopy, which are available privately and are not covered under public health schemes. In most of the developing world, the cost of counselling, testing and physician consultation is borne by the patient and the financial burden may be prohibitive [ 15 ]. We must be cautious in basing policy from the American Preventive Services Task Force to less-wealthy countries.…”

Section: Discussionmentioning

confidence: 99%

The Screen Project: Guided Direct-To-Consumer Genetic Testing for Breast Cancer Susceptibility in Canada

Narod

Gojska

Sun

et al. 2021

Cancers

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There is limited information of the outcomes of direct-to-consumer testing for BRCA1 and BRCA2 mutations. The Screen Project was initiated in 2017 to offer BRCA1 and BRCA2 genetic screening to all Canadians over the age of 18 who wish to know their mutation status. Patients enrolled in the study from 2017 to 2019 and were followed for one year after the receipt of a genetic test result. Study subjects registered online and were sent a saliva sample kit, which was shipped to the reference laboratory. Pre-test genetic counselling and counselling for mutation-negative subjects was optional and at the individual’s discretion. There were 1269 tested individuals between March 2017 and January 2019. A total of 1157 (93%) were women and 87 (7%) were men. Sixty-six percent had a first- or second-degree relative with breast or ovarian cancer. Of the 1269 tested individuals, 30 (2.4%) had a pathogenic mutation in BRCA1 or BRCA2 (20 women and 10 men). Seventy-five percent of the female mutation carriers underwent a bilateral mastectomy and/or salpingo-oophorectomy within a year of receiving a positive result. Genetic counselling was available at no cost to all participants but was requested by only 5% of the non-carriers. The study subjects expressed a high degree of satisfaction with the process.

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Section: Discussionmentioning

confidence: 99%

The Screen Project: Guided Direct-To-Consumer Genetic Testing for Breast Cancer Susceptibility in Canada

Narod

Gojska

Sun

et al. 2021

Cancers

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“…4,5 In resource-rich settings (RRS), this has led many centers to perform up-front next-generation sequencing (NGS) on all cancers at a considerable cost. On the other hand, resource-limited settings (RLS) have been disenfranchised by this approach and have been slower to adopt the new classification system, 6,7 despite diagnosing 80% of childhood brain tumors worldwide. 8,9 Despite the move in RRS to frontline NGS-based diagnostics, there are multiple molecular tools available for profiling of tumors.…”

Section: Introductionmentioning

confidence: 99%

The Clinical Utility of a Tiered Approach to Pediatric Glioma Molecular Characterization for Resource-Limited Settings

Hammad,

Nobre,

Ryall

et al. 2024

JCO Glob Oncol

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PURPOSE Molecular characterization is key to optimally diagnose and manage cancer. The complexity and cost of routine genomic analysis have unfortunately limited its use and denied many patients access to precision medicine. A possible solution is to rationalize use—creating a tiered approach to testing which uses inexpensive techniques for most patients and limits expensive testing to patients with the highest needs. Here, we tested the utility of this approach to molecularly characterize pediatric glioma in a cost- and time-sensitive manner. METHODS We used a tiered testing pipeline of immunohistochemistry (IHC), customized fusion panels or fluorescence in situ hybridization (FISH), and targeted RNA sequencing in pediatric gliomas. Two distinct diagnostic algorithms were used for low- and high-grade gliomas (LGGs and HGGs). The percentage of driver alterations identified, associated testing costs, and turnaround time (TAT) are reported. RESULTS The tiered approach successfully characterized 96% (95 of 99) of gliomas. For 82 LGGs, IHC, targeted fusion panel or FISH, and targeted RNA sequencing solved 35% (29 of 82), 29% (24 of 82), and 30% (25 of 82) of cases, respectively. A total of 64% (53 of 82) of samples were characterized without targeted RNA sequencing. Of 17 HGG samples, 13 were characterized by IHC and four were characterized by targeted RNA sequencing. The average cost per sample was more affordable when using the tiered approach as compared with up-front targeted RNA sequencing in LGG ($405 US dollars [USD] v $745 USD) and HGGs ($282 USD v $745 USD). The average TAT per sample was also shorter using the tiered approach (10 days for LGG, 5 days for HGG v 14 days for targeted RNA sequencing). CONCLUSION Our tiered approach molecularly characterized 96% of samples in a cost- and time-sensitive manner. Such an approach may be feasible in neuro-oncology centers worldwide, particularly in resource-limited settings.

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“… 8 Several barriers to testing exist, including the scarcity of testing facilities and the logistic difficulties linked to sending biologic samples abroad. 9 Additional challenges include the lack of well-established cancer genetic clinics and related support staff and the refusal of patients and/or their families to undergo testing 10 .…”

mentioning

confidence: 99%

BRCA Testing Dichotomy in Saudi Arabia

Abusanad

2019

JGO

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Clinical Cancer Genetics in a Lower-Middle Income Country: Considerations for Policymaking

Cited by 3 publications

References 7 publications

The Screen Project: Guided Direct-To-Consumer Genetic Testing for Breast Cancer Susceptibility in Canada

The Screen Project: Guided Direct-To-Consumer Genetic Testing for Breast Cancer Susceptibility in Canada

The Clinical Utility of a Tiered Approach to Pediatric Glioma Molecular Characterization for Resource-Limited Settings

BRCA Testing Dichotomy in Saudi Arabia

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