Doubling the referral rate of monogenic diabetes through a nationwide information campaign - update on glucokinase gene mutations in a Polish cohort

• Published in: Clinical genetics 2012-12, Vol.82 (6), p.587-590
• Main Authors: Borowiec, M, Fendler, W, Antosik, K, Baranowska, A, Gnys, P, Zmyslowska, A, Malecki, M, Mlynarski, W
• Format: Article
• Language: English
• Subjects: Advertising as Topic; Bioinformatics; Biological and medical sciences; Conferences; Diabetes; Diabetes mellitus; Diabetes Mellitus - epidemiology; Diabetes Mellitus - genetics; Diabetes. Impaired glucose tolerance; DNA sequencing; Endocrine pancreas. Apud cells (diseases); Endocrinopathies; Etiopathogenesis. Screening. Investigations. Target tissue resistance; Fundamental and applied biological sciences. Psychology; Genetic disorders; Genetic screening; Genetic Testing - methods; Genetic Testing - statistics & numerical data; Genetics of eukaryotes. Biological and molecular evolution; Genotype & phenotype; Glucokinase; Glucokinase - genetics; Humans; Medical genetics; Medical sciences; Medical screening; Missense mutation; Molecular and cellular biology; monogenic diabetes; Mutation - genetics; Nonsense mutation; Patient Selection; Pediatrics; Point mutation; Poland - epidemiology; Probes; Recruitment
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1111/j.1399-0004.2011.01803.x

Borowiec M, Fendler W, Antosik K, Baranowska A, Gnys P, Zmyslowska A, Malecki M, Mlynarski W. Doubling the referral rate of monogenic diabetes through a nationwide information campaign – update on glucokinase gene mutations in a Polish cohort. In order to improve recruitment efficiency of patients with monogenic diabetes in Poland, in September 2010 a nationwide advertising campaign was launched to inform multiple target groups interested or participating in pediatric diabetologic care. Promotional actions aimed at informing physicians, patients, parents and educators were carried out through nationwide newspapers, medical and patient‐developed websites and educational conference presentations. Recruitment efficiency was compared between September 2010 (publication of the first report on project's results) and the following 12 months. The number of families and patients referred to genetic screening was increased by 92% and 96% respectively nearly reaching the numbers recruited throughout the initial 4 years of the project. Participation of non‐academic centers was also significantly increased from 2.3% to 7.5% (p = 0.0005). DNA sequencing and Multiplex Ligation‐dependant Probe Amplification of the glucokinase gene resulted in finding 50 different mutations. Among those mutations, 19 were novel variants, which included: 17 missense mutations (predicted to be pathogenic according to bioinformatic analysis), 1 nonsense mutation and 1 mutation affecting a consensus intronic splice site. Advertising actions directed at increasing recruitment efficiency are a powerful and possibly neglected tool in screening for rare genetic disorders with a clinically defined phenotype.