title: Genetic tests for low- and middle-income countries: a literature review.
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.
authors.affiliation: MAGI non-profit Human Medical Genetics Institute, Rovereto, Italy paolo.maltese@assomagi.org.
authors.forename: P E
authors.initials: PE
authors.lastname: Maltese
authors.affiliation: Department of Internal Diseases N. 1, Krasnoyarsk State Medical University, Krasnoyarsk, Russia.
authors.forename: E
authors.initials: E
authors.lastname: Poplavskaia
authors.affiliation: Department of Internal Diseases N. 1, Krasnoyarsk State Medical University, Krasnoyarsk, Russia.
authors.forename: I
authors.initials: I
authors.lastname: Malyutkina
authors.affiliation: MAGI non-profit Human Medical Genetics Institute, Rovereto, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Sirocco
authors.affiliation: MAGI non-profit Human Medical Genetics Institute, Rovereto, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Bonizzato
authors.affiliation: Faculty of Medicine, Catholic University "Our Lady of Good Counsel", Tirana, Albania.
authors.forename: N
authors.initials: N
authors.lastname: Capodicasa
authors.affiliation: Department of Internal Diseases N. 1, Krasnoyarsk State Medical University, Krasnoyarsk, Russia.
authors.forename: S Y
authors.initials: SY
authors.lastname: Nicoulina
authors.affiliation: Department of Internal Diseases N. 1, Krasnoyarsk State Medical University, Krasnoyarsk, Russia.
authors.forename: A
authors.initials: A
authors.lastname: Salmina
authors.affiliation: Department of Internal Diseases N. 1, Krasnoyarsk State Medical University, Krasnoyarsk, Russia.
authors.forename: N
authors.initials: N
authors.lastname: Aksutina
authors.affiliation: Department of Medical Genetics, Erciyes University Medical School, Kayseri, Turkey.
authors.forename: M
authors.initials: M
authors.lastname: Dundar
authors.affiliation: Department of Pharmaceutical Sciences, University of Perugia, Perugia, Italy.
authors.forename: T
authors.initials: T
authors.lastname: Beccari
authors.affiliation: MAGI non-profit Human Medical Genetics Institute, Rovereto, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Cecchin
authors.affiliation: MAGI non-profit Human Medical Genetics Institute, Rovereto, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Bertelli
mesh_terms: D003906:Developing Countries; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D005820:Genetic Testing / Q000191:economics / Q000379:methods / Q000592:standards; D006801:Humans; D008403:Mass Screening; D011159:Population Surveillance; D012959:Socioeconomic Factors