Table 2.

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

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, 23–26, 29, 31, 33, 34]	✓	✓	✓