Reference Materials - Prioritization

Explanation

Combination of factors to consider:

• Test request numbers*
• Number of labs offering test*
• Evidence of need - EQA, experience
• Evidence of demand - surveys, sales

*Data from surveys and national reps

Surveys

CRMGEN

5 most-wanted RMs, open, web-based

Coriell

Most-wanted RMs, pick-list

Coriell

Sales figures

OECD

800 Labs
Pick-list of tests offered in 2003

NGRL Manchester (UK Clinical Labs)

5 most-wanted RMs, open

CMGS Audit (UK Clinical Labs)

2004-2005 data on tests performed

CAP

Participation figures 2005 schemes

Scoring

• From the survey data (total of 7 surveys) the results were sorted for each disease.
• The top 10 diseases in each survey were selected and given a score from 1-10 accordingly.
• The scores for each disease were added up.
• The top 12 diseases were plotted in a chart (scores shown).

Top 12

Rank	Disease	RM Developer*
1	FRAX	NIBSC/CRMGEN/NGRL, CDC
2	CF	CDC/Coriell
3	FVL	NIBSC, CDC
4	BRCA	NGRL Wessex
5	HH	NIBSC, CDC/Coriell
6	HNPCC	NIBSC/CRMGEN/NGRL
7	PWS/AS	NIBSC/EuroGentest
8	DM
9	HD	CDC/Coriell
10	DMD/BMD
11	SMA
12	Haemoglobinopathies	CDC/Coriell (HbS)

Last changed: 2008-11-27