An increasing number of countries are investing efforts to exploit the human genome, in order to improve genetic diagnostics and to pave the way for the integration of precision medicine into health systems. The expected benefits include improved understanding of normal and pathological genomic variation, shorter time-to-diagnosis, cost-effective diagnostics, targeted prevention and treatment, and research advances.We review the 41 currently active individual national projects concerning their aims and scope, the number and age structure of included subjects, funding, data sharing goals and methods, and linkage with biobanks, medical data, and non-medical data (exposome). The main aims of ongoing projects were to determine normal genomic variation (90%), determine pathological genomic variation (rare disease, complex diseases, cancer, etc.) (71%), improve infrastructure (59%), and enable personalized medicine (37%). Numbers of subjects to be sequenced ranges substantially, from a hundred to over a million, representing in some cases a significant portion of the population. Approximately half of the projects report public funding, with the rest having various mixed or private funding arrangements. 90% of projects report data sharing (public, academic, and/or commercial with various levels of access) and plan on linking genomic data and medical data (78%), existing biobanks (44%), and/or non-medical data (24%) as the basis for enabling personal/precision medicine in the future.Our results show substantial diversity in the analysed categories of 41 ongoing national projects. The overview of current designs will hopefully inform national initiatives in designing new genomic projects and contribute to standardisation and international collaboration.
An increasing number of countries are investing efforts to exploit the human genome, in order to improve genetic diagnostics and to pave the way for the integration of precision medicine into health systems. The expected benefits include improved understanding of normal and pathological genomic variation, shorter time-to-diagnosis, cost-effective diagnostics, targeted prevention and treatment, and research advances.We review the 41 currently active individual national projects concerning their aims and scope, the number and age structure of included subjects, funding, data sharing goals and methods, and linkage with biobanks, medical data, and non-medical data (exposome). The main aims of ongoing projects were to determine normal genomic variation (90%), determine pathological genomic variation (rare disease, complex diseases, cancer, etc.) (71%), improve infrastructure (59%), and enable personalized medicine (37%). Numbers of subjects to be sequenced ranges substantially, from a hundred to over a million, representing in some cases a significant portion of the population. Approximately half of the projects report public funding, with the rest having various mixed or private funding arrangements. 90% of projects report data sharing (public, academic, and/or commercial with various levels of access) and plan on linking genomic data and medical data (78%), existing biobanks (44%), and/or non-medical data (24%) as the basis for enabling personal/precision medicine in the future.Our results show substantial diversity in the analysed categories of 41 ongoing national projects. The overview of current designs will hopefully inform national initiatives in designing new genomic projects and contribute to standardisation and international collaboration.
“…NCD is known to have multifactorial etiology. Genomic factors, particularly epigenomics, are believed to play an important role in the development of this condition (Ariani, Soeharso, & Sjarif, 2017).…”
Section: Sick Building Syndrome In Indonesiamentioning
Sick Building Syndrome (SBS) occurs due to poor design of buildings. The environment of the building, which is in operation, and the sustenance of the human body are closely related to one another. A building that is designed without focusing on temperature, humidity, airflow, and lighting can lead to sick building syndrome in employees who work in the building (Sick building syndrome, 2011;Anderson, 1990). Convenient use of air conditioning often makes the building manager forget about proper maintenance of air conditioners (AC) and assumes that indoor air from air conditioners is always clean and healthy (Anderson, 1990). Improper AC treatment is likely to spread viruses and bacteria. 3 This study compares the epidemiology of SBS in Indonesia and Singapore as a developing country and developed country, respectively, in the ASEAN region. The results recorded indicated that the law is not sufficient to suppress the incidence rate of SBS in both countries.
“…Belanda menyebutkanterdapat peningkatan prevalensi dari sekitar 15,6:10.000 di tahun 1991 dan menjadi 22,6:10.000 pada tahun 2015 (Graaf, G. D., et al 2017). Indonesia pada tahun 2010 yaitu 1,2:1000 angka kelahiran pada setiap tahun (Ariani et al, 2017). Tahun2018 menjadi2,1:1000 kelahiran (RISKESDAS, 2018).Kementrian Kesehatan Indonesia mencatatsekitar4000 kasussindrom Down baru yang melakukanterapirawatjalan (RISKESDAS, 2019).…”
MengasuhindividudenganSindrom Down (SD) denganbanyaknyaketerlambatan dan kecacatanbaiksecara mental maupunfisikmenjadikan orang tua ataupengasuh(caregivers) cenderung mengalami beban yang lebihtinggi, dimanasecaralangsung bepengaruh pada kualitas hidup mereka sebagai caregivers. Tujuan: mengetahui faktor yang berpengaruh pada kualitashidupcaregiversindividudengan SD. Desain: literature review. Metode: Pencarianartikelpada database jurnal yang relevan termasuk Scopus (n=27), Science Direct (n=141), dan Google Scholar (n=170) dengan menggunakan kombinasi pencarian:“quality of life“and “cargivers”or “kualitashidup” and“pengasuh “ or”orang tua” or“pendamping“ and“sindrom down”. Peneliti meninjau (n=10) artikel dari (n=338) artikel yang diidentifikasi. Hasil: lima jurnal menyebutkan faktor dukungan keluarga, dukungan sosial, status ekonomi, kondisifisik-kesehatan dan penerimaankepadaindividu SD adalahfaktor yang berpengaruh pada kualtiashidupcaregiverKesimpulan: Secara garis besar peneliti menemukan lima faktor yang berpengaruh pada kualitas hidup caregivers anak-remaja dengan SD. Pentinguntukdilakukanpenelitianlebihlanjutterkaitkualitashidupindividu SDdengancakupanyang lebihluas dan beragamgunamendapatkanlandasanteoritissebagaidasaruntukperumusanasuhankeperawatankeluarga dan komunitas.
Kata Kunci:KualitasHidupPengasuh, Sindrom Down, Kualitas Hidup, Caregivers.
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