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)
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