Ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: a systematic review

Zhong, Adrina; Darren, Benedict; Loiseau, Bethina; He, Li Qun Betty; Chang, Trillium; Hill, Jennifer G.; Dimaras, Helen

doi:10.1038/s41436-018-0090-9

Cited by 51 publications

(56 citation statements)

References 159 publications

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“…The successful implementation of PGx testing will require acceptance and adequate knowledge of PGx by health-care workers, especially physicians. Nevertheless, competency on PGx testing amongst clinicians in African populations is lacking, which has also been reported as one of the major barriers for implementing PGx in other under-resourced clinical settings such as in Latin America [ 17 , 74 ]. The lack of competency stems from the absence of or limited PGx training programs in health-care training institutions and universities in Africa.…”

Section: Socio-cultural and Ethical Challenges Vis-à-vis Clinicianmentioning

confidence: 99%

“…The lack of competency stems from the absence of or limited PGx training programs in health-care training institutions and universities in Africa. In addition, physicians are not aware of the available evidence and curated guidelines for PGx testing implementation [ 74 , 75 ]. The CPIC and PharmKGB databases are excellent resources for clinicians to acquire adequate guideline support for priority PGx testing implementation.…”

Section: Socio-cultural and Ethical Challenges Vis-à-vis Clinicianmentioning

confidence: 99%

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Barriers to Implementing Clinical Pharmacogenetics Testing in Sub-Saharan Africa. A Critical Review

Tata

Ambele

2020

Pharmaceutics

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Clinical research in high-income countries is increasingly demonstrating the cost- effectiveness of clinical pharmacogenetic (PGx) testing in reducing the incidence of adverse drug reactions and improving overall patient care. Medications are prescribed based on an individual’s genotype (pharmacogenes), which underlies a specific phenotypic drug response. The advent of cost-effective high-throughput genotyping techniques coupled with the existence of Clinical Pharmacogenetics Implementation Consortium (CPIC) dosing guidelines for pharmacogenetic “actionable variants” have increased the clinical applicability of PGx testing. The implementation of clinical PGx testing in sub-Saharan African (SSA) countries can significantly improve health care delivery, considering the high incidence of communicable diseases, the increasing incidence of non-communicable diseases, and the high degree of genetic diversity in these populations. However, the implementation of PGx testing has been sluggish in SSA, prompting this review, the aim of which is to document the existing barriers. These include under-resourced clinical care logistics, a paucity of pharmacogenetics clinical trials, scientific and technical barriers to genotyping pharmacogene variants, and socio-cultural as well as ethical issues regarding health-care stakeholders, among other barriers. Investing in large-scale SSA PGx research and governance, establishing biobanks/bio-databases coupled with clinical electronic health systems, and encouraging the uptake of PGx knowledge by health-care stakeholders, will ensure the successful implementation of pharmacogenetically guided treatment in SSA.

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Section: Socio-cultural and Ethical Challenges Vis-à-vis Clinicianmentioning

confidence: 99%

Section: Socio-cultural and Ethical Challenges Vis-à-vis Clinicianmentioning

confidence: 99%

Barriers to Implementing Clinical Pharmacogenetics Testing in Sub-Saharan Africa. A Critical Review

Tata

Ambele

2020

Pharmaceutics

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“…However, in Pakistan and other LMICs there is a relative policy vacuum, despite an acknowledged need for informed reproductive choice. Termination of pregnancy would be considered by couples in Pakistan, should a major in-utero defect be identified [53].…”

Section: Discussionmentioning

confidence: 99%

Exploring the influence of socio-cultural factors and environmental resources on the health related quality of life of children and adolescents after congenital heart disease surgery: parental perspectives from a low middle income country

Ladak

Gallagher

Hasan

et al. 2020

J Patient Rep Outcomes

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Background: Health related quality of life (HRQOL) is an important indicator of long-term well-being, influenced by environmental factors such as family, culture, societal norms and available resources. This study aimed to explore parental perspectives on the influence of socio-cultural factors and environmental resources on the HRQOL of children and adolescents after congenital heart disease (CHD) surgery. Methods: Using a descriptive, qualitative design, semi-structured interviews of children/adolescents who had CHD surgery in this low-middle income country (LMIC) were collected between July to December 2017. There were 20 families enrolled, which included 18 parent dyads (mother and father) and two single mothers, making a total of 38 participants. Initial inductive analysis was further refined using the Social Ecological Model as an analytic lens. Results: At the intrapersonal level, unrealistic expectations of surgery, residual CHD symptoms and difficulty maintaining educational progress were of great concern. There were low levels of health literacy and understanding about CHD among family and friends, however, strong kinship ties were an important resource at the interpersonal level. These families lived in poverty and mothers often carried the sole burden of care for their sick children. At the institutional level, there were unclear expectations of the child's needs at school, and parents had poor access to psychological, family-planning and genetic counselling, and poor access to CHD education resources. At a sociocultural level, religion and trust in God were important coping factors, however, CHD was a gendered experience with particular concerns around scarring and the marriageability of girls. Parents noted the deficit of antenatal and specialist CHD services and felt the consequence of a lack of a universal health care system at the public policy level.

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“…Furthermore, carriers should be alerted to their own health risks, since heterozygous carriers of a pathogenic ATM mutation are at increased risk to develop (breast) cancer, and cardiovascular diseases [16]. In resource-limited settings, such counselling can be complicated by a lack of knowledge, inaccessibility of genetic services, and by cultural or religious beliefs [62].…”

Section: Genetic Counsellingmentioning

confidence: 99%

Diagnosis and Management of Ataxia-Telangiectasia in Resource-Limited Settings

Aerde

Gaalen

et al. 2020

JICNA

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Ataxia-telangiectasia (A-T) is an autosomal recessive disorder linked to mutations in the ATM gene, and is characterized by neurodegeneration with an early onset cerebellar syndrome, hyperkinetic movement disorders, neuropathy, and oculocutaneous telangiectasia. Immunodeficiency, pulmonary disease, growth failure, diabetes mellitus, increased malignancy risk and hypersensitivity to ionizing radiation complicate the clinical picture. Serum alpha-fetoprotein levels are increased in patients with A-T and can therefore serve as a diagnostic marker for the disease. In resource-limited settings, diagnosis and management of patients with a rare and complex disorder such as A-T may be extremely challenging. This expert opinion-based guideline aims to give an overview of diagnosis and management of A-T in resource-limited settings, by prioritizing different options based on medical necessity, availability, and costs.

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Ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: a systematic review

Abstract: We identified a number of complex and interrelated ethical, cultural, and social issues with implications implications for further development of genetic services in LMICs.

Cited by 51 publications

References 159 publications

Barriers to Implementing Clinical Pharmacogenetics Testing in Sub-Saharan Africa. A Critical Review

Barriers to Implementing Clinical Pharmacogenetics Testing in Sub-Saharan Africa. A Critical Review

Exploring the influence of socio-cultural factors and environmental resources on the health related quality of life of children and adolescents after congenital heart disease surgery: parental perspectives from a low middle income country

Diagnosis and Management of Ataxia-Telangiectasia in Resource-Limited Settings

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