Review of 10 years of preimplantation genetic diagnosis in South Africa: implications for a low-to-middle-income country

Carzis, Bianca; Wainstein, Tasha; Gobetz, Lawrence; Krause, Amanda

doi:10.1007/s10815-019-01537-3

Cited by 4 publications

(11 citation statements)

References 16 publications

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“…91 Nevertheless, publications since 2018 demonstrate that OOP cost and/or a lack of insurance coverage continue to present barriers to those who do not qualify for full coverage. 13,30,46,57,58,63 This lies in accordance with recent willingness-to-pay studies, which have found that a significant proportion of patients are unwilling to pay anything at all for genetic testing, and that even relatively small variations in OOP cost can have a marked effect on testing uptake. [92][93][94] Financial barriers can create disparities in clinical outcomes for patients based on their economic resources, as exemplified by the findings that those who did not pursue clinically-indicated genomic testing due to concerns of cost or insurance were equally likely to test positive for a pathogenic or likely pathogenic mutation compared to those who did receive a test.…”

Section: Discussionsupporting

confidence: 85%

“…Twenty studies specifically focused on prenatal genetic and genomic testing 38–57 . Nine countries were represented, namely Australia, 38,39 Canada, 40,41 France, 42 Israel, 43 the Netherlands, 44 South Africa, 45,46 Turkey, 47 the United Kingdom, 48–50 and the United States 51–57 .…”

Section: Resultsmentioning

confidence: 99%

“…Twenty studies specifically focused on prenatal genetic and genomic testing. [38][39][40][41][42][43][44][45][46][47][48][49][50][51][52][53][54][55][56][57] Nine countries were represented, namely Australia, 38,39 Canada, 40,41 France, 42 Israel, 43 the Netherlands, 44 South Africa, 45,46 Turkey, 47 the United Kingdom, [48][49][50] and the United States. [51][52][53][54][55][56][57] Studies examined noninvasive prenatal screening (NIPS), amniocentesis, preimplantation genetic testing (PGT), and prenatal exome sequencing.…”

Section: Prenatal Testingmentioning

confidence: 99%

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Out‐of‐pocket and private pay in clinical genetic testing: A scoping review

et al. 2021

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Full coverage of the cost of clinical genetic testing is not always available through public or private insurance programs, or a public healthcare system. Consequently, some patients may be faced with the decision of whether to finance testing out-ofpocket (OOP), meet OOP expenses required by their insurer, or not proceed with testing. A scoping review was conducted to identify literature associated with patient OOP and private pay in clinical genetic testing. Seven databases (EMBASE, MEDLINE, CINAHL, PsychINFO, PAIS, the Cochrane Database of Systematic Reviews, and the JBI Evidence-Based Practice database) were searched, resulting in 83 unique publications included in the review. The presented evidence includes a descriptive analysis, followed by a narrative account of the extracted data. Results were divided into four groups according to clinical indication: (1) hereditary breast and ovarian cancer, (2) other hereditary cancers, (3) prenatal testing, (4) other clinical indications. The majority of studies focused on hereditary cancer and prenatal genetic testing. Overall trends indicated that OOP costs have fallen and payer coverage has improved, but OOP expenses continue to present a barrier to patients who do not qualify for full coverage.

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Section: Discussionsupporting

confidence: 85%

Section: Resultsmentioning

confidence: 99%

Section: Prenatal Testingmentioning

confidence: 99%

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Out‐of‐pocket and private pay in clinical genetic testing: A scoping review

et al. 2021

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“…A similar undertaking has led to effective genetic counseling with the option for prenatal testing and preimplantation diagnosis for affected patients and families. 73…”

Section: Benefits Of An Rd Biobankmentioning

confidence: 99%

An Overview of Benefits and Challenges of Rare Disease Biobanking in Africa, Focusing on South Africa

Conradie

Malherbe

Hendriksz

et al. 2021

Biopreservation and Biobanking

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CHM) is in the process of establishing the first rare disease (RD) biobank in South Africa and Africa. The CHM Biobank's main focus is on the collection of samples and information for rare congenital disorders. Approximately 72% of all RDs have a genetic origin, of which 70% have an exclusive pediatric onset. The need for such a biobank was identified by the CHM diagnostic laboratory. Feedback toward this initiative was overwhelmingly positive at the first stakeholder meeting in August 2019. However, gaining support from the public sector and recruiting of participants have proven to be challenging. Problems experienced to date include lack of support from government and clinicians; lack of knowledge on RDs (patients and clinicians); public health care focus not directed toward RDs; patients not returning for follow-up visits; and unwillingness to participate due to fear of exploitation. The CHM Biobank's vision and goals are aligned to address a national and international research need: it will provide a valuable resource for scientists to improve what is known about these diseases; to better understand the natural history and pathophysiology; to optimize diagnostic methods; and to potentially develop treatments. The genetic variability of the South African population provides added value to the RD biobank. This review provides a brief overview of the literature on the challenges and benefits of an RD biobank and how this relates to low-and middle-income countries (LMIC) like South Africa. The aim of the review is to draw attention to the potential benefits of such an undertaking and to create awareness, at both local and global level, toward some of the unique collective considerations that an RD biobank in LMIC (also unique South African challenges) faces on an operational, collaborate, and sustainability level.

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“…A number of IVF cycles may be required before a pregnancy is achieved. [24] Couples may also choose to test embryos simultaneously for human leukocyte antigen (HLA) compatibility, where an affected child could be assisted by a stem cell transplant from an unaffected sibling. However, selection of unaffected and HLA-matched embryos greatly reduces the number of embryos suitable for implantation.…”

Section: Cmementioning

confidence: 99%