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Table 2 Synthesised Themes and Categories identified in stand-alone registries, registries linked to Biobanks, and stand-alone Rare Disease Biobanks

From: Impact of biobanks on research outcomes in rare diseases: a systematic review

Theme

Theme code

Category

Linked resource (ref.)

Identified in registries linked to Biobanks (REG + BB)

Identified in stand-alone registries (REG)

Identified in stand-alone Rare Disease Biobanks (RDBB)

Basic Science

BS

Omics

[14, 52, 17, 18, 29, 35, 48, 19, 13, 31]

 

Biomarker development

[32, 35, 29]

  

Subcohort identification

[13, 25, 35, 21, 27]

 

Epidemiology

[48, 33, 21, 24, 26, 20, 22, 29, 35, 23, 30, 19, 34]

Translational science

T

Increased research projects

[14, 33, 21, 23, 17, 30, 19, 22, 29, 18, 34]

Randomised controlled trials

[48, 33, 34, 32, 22, 23, 21, 27, 29]

 

Biospecimen contribution to studies

[31, 17, 19, 27, 18, 32, 29, 25, 35, 24, 48, 49, 13, 14]

 

Clinical observation

CO

Diagnosis/survival rate

[28, 29, 25, 20, 19, 50, 51]

 

Natural history of disease

[31, 24, 27, 30, 23, 21, 28, 22, 29]

 

Clinical treatment

CT

Diagnostics

[17, 18, 33]

 

Guidelines for treatment

[32, 20, 21, 33, 25, 29]

 

Treatment evaluation

[26, 27, 30, 31, 20, 28, 33, 29, 25, 24]

 

Facilitators

F

Benefits to stakeholders

[23, 17, 18, 14, 32, 19, 22, 13]

Collaborations

[24, 48, 20, 13, 26, 22, 17, 18, 32, 29, 33, 35, 30, 25, 49, 19, 21, 27]

Engagement

[29, 30, 32, 34, 35]

Recruitment

[34]

  

Pro-active marketing

[14]

  

Barriers

B

Challenges

[13, 17, 19, 21, 23,24,25,26, 29, 31, 33, 34]