Highlights
- •The cost effectiveness of searching electronic health records for new cases of familial hypercholesterolaemia (FH) has not been established.
- •Economic modelling was carried out as part of an update to NICE's guideline on FH.
- •The analysis found that searching primary care databases for people with total cholesterol >9.3 mmol/L was cost effective.
- •Searching secondary care databases was not cost effective.
Abstract
Background and aims
The cost effectiveness of cascade testing for familial hypercholesterolaemia (FH)
is well recognised. Less clear is the cost effectiveness of FH screening when it includes
case identification strategies that incorporate routinely available data from primary
and secondary care electronic health records.
Methods
Nine strategies were compared, all using cascade testing in combination with different
index case approaches (primary care identification, secondary care identification,
and clinical assessment using the Simon Broome (SB) or Dutch Lipid Clinic Network
(DLCN) criteria). A decision analytic model was informed by three systematic literature
reviews and expert advice provided by a NICE Guideline Committee.
Results
The model found that the addition of primary care case identification by database
search for patients with recorded total cholesterol >9.3 mmol/L was more cost effective
than cascade testing alone. The incremental cost-effectiveness ratio (ICER) of clinical
assessment using the DLCN criteria was £3254 per quality-adjusted life year (QALY)
compared with case-finding with no genetic testing. The ICER of clinical assessment
using the SB criteria was £13,365 per QALY (compared with primary care identification
using the DLCN criteria), indicating that the SB criteria was preferred because it
achieved additional health benefits at an acceptable cost. Secondary care identification,
with either the SB or DLCN criteria, was not cost effective, alone (dominated and
dominated respectively) or combined with primary care identification (£63, 514 per
QALY, and £82,388 per QALY respectively).
Conclusions
Searching primary care databases for people at high risk of FH followed by cascade
testing is likely to be cost-effective.
Graphical abstract

Graphical Abstract
Keywords
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Article Info
Publication History
Published online: May 17, 2018
Accepted:
May 16,
2018
Received in revised form:
May 4,
2018
Received:
January 28,
2018
Identification
Copyright
© 2018 Elsevier B.V. All rights reserved.