Page 55 - GPD-1-1
P. 55

Gene & Protein in Disease                                             Bangladesh genetic disease database



            data, regional distribution, and mutation profiling are still   Moreover, the curriculum for a primary medical degree
            unknown [120] . In addition, the number of people diagnosed   (MBBS) does not cover adequate knowledge in genetics,
            with genetic diseases, such as attention-deficit hyperactivity   so medical professionals in rural areas may have limited
            disorder, Down syndrome, Turner syndrome, and Klinefelter   knowledge and access to the new technologies for detecting
            syndrome, increases [120] . Besides, nearly eight in 1000 live   a genetic disease . A genetic disease database should also
                                                                            [10]
            births in this country suffer from congenital heart defects .  contain all the possible symptoms of the diseases. The
                                                        [7]
                                                               information regarding the possible diagnosis procedures
            3. The reasons for constructing a human            should be added as well. The health-care system faces
            genetic disease database in Bangladesh             different problems while managing inherited diseases
                                                               because of the complexity and heterogeneity of the clinical
            Along  with  the technological advancement in  disease   data. Establishing a genetic disease database will allow
            identification, distinguishing and reserving the genomic   extensive access to all the related features of the disease and
            variation such as mutations in different parts of the   genetic mutation data that will be beneficial for the precise
            genome are of great help to control and manage the adverse   diagnosis and treatment of patients with genetic diseases.
            outcomes of any specific diseases. All genomic data must   These genetic disease databases serve as a platform to
            be deposited in a particular location. That is why different   educate health-care professionals, scientists, patients, and
            genetic databases have already been constructed, such as   the common people of Bangladesh about different genetic
            Online Mendelian Inheritance of Man (OMIM), Human   diseases and the available treatments.
            Gene  Mutation  Database,  and  Locus-Specific  Databases.
            Genetic databases gather the molecular genetic data,   Moreover, South Asia has the most ethnically diverse
            standardized clinical data, and data regarding associated   population and therefore significant genetic variability
            factors of an individual for the interpretation of gene   compared to the other parts of the world [113] . Comparing
            function, the identification of genes that are mostly present   the clinical features of South Asian people with those in
            in a specific community, and the differentiation from other   the databases of other countries can lead to a false-positive
            communities to estimate the underlying cause of genetic   or  -negative  result because  of incompatible  mutation
            disease [121] . The broad spectrum of genetic diversity among   patterns. Thus, having a population-specific genetic
            the people of different countries is the fundamental cause   diseases database with specific mutations can ease the
            of a diverse array of genetic diseases. Genetic databases   analysis of genetic differences between ethnic groups,
            help elucidate gene function, estimate the prevalence of   trace  population  diversity,  and  disease  susceptibility.
            genes in populations, distinguish between subtypes of   Furthermore, the database will lend a helping hand to
            diseases,  trace  how  genes  may  predispose  to  or  protect   the research groups working on human genetic diversity,
            against  illnesses,  and  improve  medical intervention [121] .   medical and evolutionary history of ethnic groups,
            Therefore, a nation-specific genetic disease database   genetic disease diagnosis, and treatment by supplying data
            should contain information about the diseases’ frequency   while  designing study  and during result interpretation.
            rates and provide clues on the required steps to prevent the   Understanding  genotype-phenotype  correlation,
            spread of the diseases from generation to generation. On   developing molecular diagnostic tests, analyzing mutation,
            realizing the significance, many countries have introduced   and genetic counseling will be easier with the help of a
            national databases containing mutation details. However,   genetic disease database because all relevant information
            Asian countries were lagging behind in constructing   are in one place. In addition, the database would be helpful
            genetic databases compared to the European countries. To   for other researchers to analyze specific Asian mutations.
            encourage genetic data deposition from Asian countries,   Pharmacogeneticists will find the database highly
            the Genome Asia 100K Project has been introduced to   advantageous after utilizing it to understand gene-related
            assemble population-specific variation data and extend   variabilities  in  drug  responsiveness  and  metabolism,
            the genome-wide association studies. The GAsP database   thereby  facilitating drug  screening in  accordance  with
            has already taken DNA sequences from India, Malaysia,   genetic susceptibility before prescribing.
            Korea, Pakistan, China, and many other Asian countries   4. Genetic disease database of different
            from their genetic disease databases [122] . Despite having
            published case reports on more than 60 genetic diseases,   Asian countries
            Bangladesh still has not constructed a genetic disease   The diversity of genetic diseases in different populations
            database to collate genetic disease and mutation details.   depends on geographical location, reproductive practices,
            Therefore, the prevalence data and the mutation profiles   and environmental factors. Thus, many neighboring Asian
            of most genetic diseases are still unknown, making the   countries have already established their own national
            diagnosis procedure burdensome [120,123] .         genetic disease databases, which are summarized in Table 2.


            Volume 1 Issue 1 (2022)                         10                      https://doi.org/10.36922/gpd.v1i1.78
   50   51   52   53   54   55   56   57   58   59   60