期刊论文详细信息
International Journal for Equity in Health
Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective
Review
Mariana Rico-Restrepo1  Edmar Zanoteli2  João Bosco Oliveira3  Mayana Zatz4  Carolina Fischinger Moura de Souza5  Têmis Maria Félix5  Roberto Giugliani6 
[1] Americas Health Foundation, Bogota, Colombia;Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, Brazil;Hospital Israelita Albert Einstein, São Paulo, Brazil;Human Genome and Stem-cell Research Center, Institute of Biosciences, University of São Paulo, São Paulo, Brazil;Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90,035–903, Porto Alegre, Brazil;Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90,035–903, Porto Alegre, Brazil;House of Rares, Porto Alegre, Rio Grande do Sul, Brazil;
关键词: Brazil;    Rare diseases;    Diagnosis;    Exome sequencing;    Screening;    Whole genome sequencing;    Genomics;   
DOI  :  10.1186/s12939-022-01809-y
 received in 2022-09-16, accepted in 2022-12-14,  发布年份 2022
来源: Springer
PDF
【 摘 要 】

Early diagnosis of genetic rare diseases is an unmet need in Brazil, where an estimated 10–13 million people live with these conditions. Increased use of chromosome microarray assays, exome sequencing, and whole genome sequencing as first-tier testing techniques in suitable indications can shorten the diagnostic odyssey, eliminate unnecessary tests, procedures, and treatments, and lower healthcare expenditures. A selected panel of Brazilian experts in fields related to rare diseases was provided with a series of relevant questions to address before a multi-day conference. Within this conference, each narrative was discussed and edited through numerous rounds of discussion until agreement was achieved. The widespread adoption of exome sequencing and whole genome sequencing in Brazil is limited by various factors: cost and lack of funding, reimbursement, awareness and education, specialist shortages, and policy issues. To reduce the burden of rare diseases and increase early diagnosis, the Brazilian healthcare authorities/government must address the barriers to equitable access to early diagnostic methods for these conditions. Recommendations are provided, including broadening approved testing indications, increasing awareness and education efforts, increasing specialist training opportunities, and ensuring sufficient funding for genetic testing.

【 授权许可】

CC BY   
© The Author(s) 2023

【 预 览 】
附件列表
Files Size Format View
RO202305111138244ZK.pdf 2721KB PDF download
41116_2022_35_Article_IEq363.gif 1KB Image download
41116_2022_35_Article_IEq387.gif 1KB Image download
MediaObjects/12888_2022_4507_MOESM1_ESM.docx 16KB Other download
MediaObjects/12888_2022_4507_MOESM2_ESM.docx 21KB Other download
Fig. 4 363KB Image download
Fig. 3 614KB Image download
41116_2022_35_Article_IEq393.gif 1KB Image download
41116_2022_35_Article_IEq394.gif 1KB Image download
41116_2022_35_Article_IEq395.gif 1KB Image download
41116_2022_35_Article_IEq396.gif 1KB Image download
41116_2022_35_Article_IEq397.gif 1KB Image download
41116_2022_35_Article_IEq398.gif 1KB Image download
12888_2022_4443_Article_IEq1.gif 1KB Image download
12888_2022_4443_Article_IEq2.gif 1KB Image download
12888_2022_4443_Article_IEq3.gif 1KB Image download
12888_2022_4443_Article_IEq4.gif 1KB Image download
41116_2022_35_Article_IEq403.gif 1KB Image download
41116_2022_35_Article_IEq404.gif 1KB Image download
41116_2022_35_Article_IEq405.gif 1KB Image download
41116_2022_35_Article_IEq406.gif 1KB Image download
Fig. 4 91KB Image download
41116_2022_35_Article_IEq408.gif 1KB Image download
41116_2022_35_Article_IEq409.gif 1KB Image download
41116_2022_35_Article_IEq410.gif 1KB Image download
41116_2022_35_Article_IEq411.gif 1KB Image download
41116_2022_35_Article_IEq412.gif 1KB Image download
41116_2022_35_Article_IEq413.gif 1KB Image download
41116_2022_35_Article_IEq414.gif 1KB Image download
MediaObjects/12888_2022_4513_MOESM1_ESM.docx 258KB Other download
41116_2022_35_Article_IEq416.gif 1KB Image download
41116_2022_35_Article_IEq417.gif 1KB Image download
Fig. 6 102KB Image download
41116_2022_35_Article_IEq419.gif 1KB Image download
41116_2022_35_Article_IEq420.gif 1KB Image download
41116_2022_35_Article_IEq421.gif 1KB Image download
12888_2022_4443_Article_IEq5.gif 1KB Image download
12888_2022_4443_Article_IEq6.gif 1KB Image download
12888_2022_4443_Article_IEq7.gif 1KB Image download
41116_2022_35_Article_IEq425.gif 1KB Image download
Fig. 7 106KB Image download
12888_2022_4443_Article_IEq8.gif 1KB Image download
12888_2022_4443_Article_IEq9.gif 1KB Image download
12888_2022_4443_Article_IEq10.gif 1KB Image download
12888_2022_4443_Article_IEq11.gif 1KB Image download
12888_2022_4443_Article_IEq12.gif 1KB Image download
【 图 表 】

12888_2022_4443_Article_IEq12.gif

12888_2022_4443_Article_IEq11.gif

12888_2022_4443_Article_IEq10.gif

12888_2022_4443_Article_IEq9.gif

12888_2022_4443_Article_IEq8.gif

Fig. 7

41116_2022_35_Article_IEq425.gif

12888_2022_4443_Article_IEq7.gif

12888_2022_4443_Article_IEq6.gif

12888_2022_4443_Article_IEq5.gif

41116_2022_35_Article_IEq421.gif

41116_2022_35_Article_IEq420.gif

41116_2022_35_Article_IEq419.gif

Fig. 6

41116_2022_35_Article_IEq417.gif

41116_2022_35_Article_IEq416.gif

41116_2022_35_Article_IEq414.gif

41116_2022_35_Article_IEq413.gif

41116_2022_35_Article_IEq412.gif

41116_2022_35_Article_IEq411.gif

41116_2022_35_Article_IEq410.gif

41116_2022_35_Article_IEq409.gif

41116_2022_35_Article_IEq408.gif

Fig. 4

41116_2022_35_Article_IEq406.gif

41116_2022_35_Article_IEq405.gif

41116_2022_35_Article_IEq404.gif

41116_2022_35_Article_IEq403.gif

12888_2022_4443_Article_IEq4.gif

12888_2022_4443_Article_IEq3.gif

12888_2022_4443_Article_IEq2.gif

12888_2022_4443_Article_IEq1.gif

41116_2022_35_Article_IEq398.gif

41116_2022_35_Article_IEq397.gif

41116_2022_35_Article_IEq396.gif

41116_2022_35_Article_IEq395.gif

41116_2022_35_Article_IEq394.gif

41116_2022_35_Article_IEq393.gif

Fig. 3

Fig. 4

41116_2022_35_Article_IEq387.gif

41116_2022_35_Article_IEq363.gif

【 参考文献 】
  • [1]
  • [2]
  • [3]
  • [4]
  • [5]
  • [6]
  • [7]
  • [8]
  • [9]
  • [10]
  • [11]
  • [12]
  • [13]
  • [14]
  • [15]
  • [16]
  • [17]
  • [18]
  • [19]
  • [20]
  • [21]
  • [22]
  • [23]
  • [24]
  • [25]
  • [26]
  • [27]
  • [28]
  • [29]
  • [30]
  • [31]
  • [32]
  • [33]
  • [34]
  • [35]
  • [36]
  • [37]
  • [38]
  • [39]
  • [40]
  • [41]
  • [42]
  • [43]
  • [44]
  • [45]
  • [46]
  • [47]
  • [48]
  • [49]
  • [50]
  • [51]
  文献评价指标  
  下载次数:2次 浏览次数:0次