Literature DB >> 28198508

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

P E Maltese1, E Poplavskaia2, I Malyutkina2, F Sirocco3, A Bonizzato3, N Capodicasa4, S Y Nicoulina2, A Salmina2, N Aksutina2, M Dundar5, T Beccari6, S Cecchin3, M Bertelli3.   

Abstract

The aim of this review is to describe a series of ten genetic diseases with Mendelian inheritance pattern in people of low- or middle-income countries, which can be easily identified with simple and affordable methods. Recent information shows that although genetic diseases account for more than 10% of infant mortality in such countries, testing, counseling, and treatment of genetic diseases is not a priority. The selection criteria for the genetic tests that are discussed in this review are: i) the frequency of the genetic disease in the general population, ii) the cost and ease of execution, and iii) the report of validated methods in the literature for the diagnosis of these diseases. The goal is to promote diagnosis of genetic diseases at low-cost and with relative ease, thereby enabling appropriate treatments, reducing mortality, and preventing genetic diseases in high-risk families.

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Year:  2017        PMID: 28198508     DOI: 10.4238/gmr16019466

Source DB:  PubMed          Journal:  Genet Mol Res        ISSN: 1676-5680


  4 in total

Review 1.  Genomic medicine for kidney disease.

Authors:  Emily E Groopman; Hila Milo Rasouly; Ali G Gharavi
Journal:  Nat Rev Nephrol       Date:  2018-01-08       Impact factor: 28.314

2.  Identifying opportunities for collaboration and growth of genetic counseling services in the Asia Region.

Authors:  Mercy Y Laurino; Darci L Sternen; Jennifer K Thompson; Kathleen A Leppig
Journal:  J Community Genet       Date:  2017-05-25

Review 3.  Barriers to genetic testing in clinical psychiatry and ways to overcome them: from clinicians' attitudes to sociocultural differences between patients across the globe.

Authors:  Justo Pinzón-Espinosa; Marte van der Horst; Janneke Zinkstok; Jehannine Austin; Cora Aalfs; Albert Batalla; Patrick Sullivan; Jacob Vorstman; Jurjen J Luykx
Journal:  Transl Psychiatry       Date:  2022-10-11       Impact factor: 7.989

4.  Fragile X-Associated Disorders in Serbia: Baseline Quantitative and Qualitative Survey of Knowledge, Attitudes and Practices Among Medical Professionals.

Authors:  Dejan B Budimirovic; Smiljana Cvjetkovic; Zoran Bukumiric; Phan Q Duy; Dragana Protic
Journal:  Front Neurosci       Date:  2018-09-21       Impact factor: 4.677

  4 in total

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