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Klinisk Biokemi i Norden · 4 2019
Inborn errors of metabolism
By Yngve Thomas Bliksrud, Oslo University Hospital,
Oslo
Inborn errors of metabolism are a large and hete-
rogeneous group of diseases, individually rare, but
collectively numerous. The symptoms range from
very mild to lethal; they may origin from any organs
and can appear at any age. The diagnostics include
extensive use of both biochemical and genetic analy-
ses and may represent a serious and interesting chal-
lenge for the laboratory and maybe especially for the
laboratory doctor.
In the session, Dr. Risto Lapatto formHelsinki will
give a general overview over the field of inborn errors
of metabolism, Dr. Leifur Franzson from Reykjavik
will talk about the disease group in the small popu-
lation of Island with focus on newborn screening. Dr.
Anna Wedell and Dr. Yngve Thomas Bliksrud will
speak about the relationship, sometimes difficult, bet-
ween clinical, biochemical and genetic information.
They will elucidate the extensive cooperation in this
field between the laboratory doctor and the clinicians:
“What do these increased levels of metabolites mean
for my patient?”, and between the laboratory doctor
and the medical geneticist: “What are the biochemi-
cal and clinical consequences of these mutations?”.
The Quality of POCT
By Sverre Sandberg, The Norwegian Organisation for
Quality Improvement of Primary Care Laboratories
(NOKLUS), University of Bergen, Bergen
Point of care (POC) instruments are increasingly
used throughout the community and is the fastest-
growing part of the IVD industry. Instruments are
used at GPs offices, pharmacies, nursing homes, cli-
nical departments in the hospitals and in the hands
of patients. How can the quality of these instruments
be ensured? It is the challenge of laboratory medi-
cine to ensure that these instruments are used in
the right clinical pathways and that they have good
enough quality. There are relatively more errors of
POC instruments in the analytical phase compared
to central laboratory instruments. But, of course,
errors in the pre-analytical and post-analytical phase
are also frequent. First of all, politically it has to be
decided that the quality of POC instruments is the
responsibility of the laboratory profession. It should
be a goal for laboratory medicine to ensure the quality
of POC instruments wherever they are situated. Most
clinicians and patients do not know that POC results
can be misleading and prone to errors. Therefore, an
important aspect will be the education of the users
of the instruments, both in pre-analytical errors, in
how to choose the right instrument for their use and
how to run it and of course the post-analytical aspects
e.g. how to report the results. We have to set sensible
performance specifications for the POC instruments,
and they can be different from the performance speci-
fications used in the central hospital. As a laboratory
profession, we have to critically judge whether - and
how to - use traditional internal quality control sche-
mes. External quality control for POC instruments
has to be improved and it must be ensured that we
can get information on both participant performance
as well as method performance. To be able to do this,
improved quality control material has to be used and/
or methods to improve the “commutability of the
EQA schemes” have to be developed.
We wish you all a nice winter!
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Photo: Gunhild Garmo Hov.
