[Optimization of monogenic diabetes screening programme--initial report on recruitment efficacy of the TEAM project].
BACKGROUND
Due to the lack of precise diagnostic criteria, current search strategy for monogenic diabetes is predominantly based on atypical clinical course of diabetes and intuition of the attending physician. Yet another issue is the common view that monogenic diabetes is rare. It discourages from performing deepened diagnostics and makes it difficult to gain experience necessary to select appropriate patients for genetic examination.


OBJECTIVE
Estimating the true incidence of patients with a high probability of monogenic background of the disease and compare their search strategies based on clinical practice or structured databases.


METHODS
The authors compared the current strategy of selecting candidates for screening with a directed search strategy based on immunologic (lack of islet autoantibodies), functional (presence or complete lack of c-peptide at onset and follow-up) and familial (dominant pattern of inheritance) criteria. The number of patients selected for the screening was chosen as efficacy measure selected among 1281 diabetic patients diagnosed and treated between 1983-2009.


RESULTS
Screening based on clinical assessment yielded 37 patients (2.9%) chosen for genetic screening. Criteria used by the physicians were based on up-to-date guidelines and unusual clinical course. Active search of the database according to predefined criteria resulted in selecting: 121 patients (9.4%) with likely monogenic background of diabetes (71 - lack of autoantibodies, 8 - normal C-peptide, 6 - lack of both c-peptide and autoantibodies, 36 - diabetes in at least one parent). The difference in screening efficacy was statistically significant (p <0.0001).


CONCLUSIONS
Periodic reevaluation of patients' data allows a significant increase in the number of candidates subjected to genetic screening and potentially achieving beneficial therapeutic effects by means of pharmacogenetics.
Borowiec
Maciej
M
Klinika Pediatrii, Onkologii, Hematologii i Diabetologii Uniwersytetu Medycznego w Łodzi. maciej.borowiec@umed.lodz.pl
Fendler
Wojciech
W
Antosik
Karolina
K
Ciepiela
Anna
A
Baranowska
Anna
A
Hogendorf
Anna
A
Mianowska
Beata
B
Szadkowska
Agnieszka
A
Młynarski
Wojciech
W
D001323:Autoantibodies / Q000032:analysis; D002096:C-Peptide / Q000032:analysis; D003922:Diabetes Mellitus, Type 1 / Q000145:classification* / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing / Q000379:methods* / Q000458:organization & administration*; D006801:Humans; D015994:Incidence; D050417:Insulin-Secreting Cells / Q000276:immunology; D008403:Mass Screening / Q000379:methods* / Q000458:organization & administration*; D018579:Patient Selection
D001323:Autoantibodies; D002096:C-Peptide