Electronic chemical pathology consultation service and dried blood spot metabolic screening in hospital patients.
OBJECTIVE
Inborn errors of metabolism (IEM) are an unpopular and difficult subject and most clinicians are unfamiliar with them. Although chemical pathologists have a long-standing practice in advising test strategy and result interpretation especially from primary care, such consultations are usually informal, unstructured and those related to IEM are infrequently requested. This study aims to provide a formal electronic consultation service and to apply tandem mass spectrometry-based dried blood spot metabolic screening (DBSM) as a rapid first-line test for patients suspected of IEM.


METHODS
DBSM and a chemical pathology consultation were ordered through the hospital computer terminals. DBSM detected 29 metabolic disorders. The clinical data and metabolic results for the 12-month period were reviewed.


RESULTS
There were 279 consultations of which 209 were initiated by paediatricians and 70 by adult physicians. The main reasons for consultation were developmental delay, neurological abnormalities, unexplained biochemical abnormalities and monitoring of patients with IEM. There were 158 DBSM requests. One positive case of isovaleric acidaemia was detected.


CONCLUSIONS
All high-risk paediatric patients should have a DBSM and a timely electronic chemical pathology consultation as a rapid and cost-effective first-line screening. Provision of a visible, accessible and helpful consultation service enables professional reimbursement.
Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong SAR, China. makm@ha.org.hk
Chloe Miu
CM
Mak
Wai-Kwan
WK
Siu
Chun-Yiu
CY
Law
Chi-Keung
CK
Wong
Hon-Kit
HK
Lee
Sam
S
Yeung
Chak-On
CO
Sham
Kong
K
Tse
Hencher Han-Chih
HH
Lee
Sammy Pak-Lam
SP
Chen
Chor-Kwan
CK
Ching
Chui-Kwan
CK
Au
Wing-Tat
WT
Poon
Ching-Wan
CW
Lam
Ngai-Shan
NS
Kwong
Albert Yan-Wo
AY
Chan
D003362:Cost-Benefit Analysis; D004581:Electronics; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000191:economics; D015997:Neonatal Screening / Q000191:economics / Q000379:methods*; D010337:Pathology Department, Hospital; D012017:Referral and Consultation; D053719:Tandem Mass Spectrometry