Screening for Type 1 Diabetes Risk in Newborns: The Freder1k Pilot Study in Saxony
Screening for Type 1 Diabetes Risk in Newborns: The Freder1k Pilot Study in Saxony
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DOI：
10.1055/s-0043-120921
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发表时间：
2018-01-01
影响因子：
2.2
通讯作者：
Ziegler, Anette-Gabriele
中科院分区：
文献类型：
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作者：
Hommel, Angela;Haupt, Florian;Ziegler, Anette-Gabriele
1型糖尿病的风险增加可以通过遗传和免疫标记来确定。Freder 1 k研究在新生儿筛查的背景下引入了1型糖尿病风险的基因检测，以识别具有高风险的新生儿发展为1型糖尿病，用于早期1型糖尿病的后续检测和一级预防试验。1型糖尿病风险的基于研究的基因检测的同意是通过新生儿筛查获得的。使用HLA DRB 1 *03（DR 3）、HLA DRB 1 *04（DR 4）、HLA DQB 1 *0302（DQ 8）等位基因的三种单核苷酸多态性评估风险增加，并定义为1。HLA DR 3/DR 4-DQ 8或DR 4-DQ 8/DR 4-DQ 8基因型或2. HLA DR 4-DQ 8单倍型和1型糖尿病一级家族史。要求风险增加的婴儿的家庭在婴儿6个月、2岁和4岁时参加随访，进行自身抗体检测和1型糖尿病的早期诊断。8个月后，筛查率达到每周181人，弗雷德里克诊所内新生儿的覆盖率为63%，萨克森所有登记出生的覆盖率为24%。在接受筛查的4178名婴儿中，2.6%被确定为风险增加，约80%的合格婴儿被招募进行随访。正在对符合条件的家庭进行心理评估，31个家庭中没有一个表现出与1型糖尿病风险知识相关的过度负担迹象。这项试点研究表明，在新生儿筛查计划的背景下进行儿童疾病的遗传风险测试是可行的。
An increased risk for type 1 diabetes can be identified using genetic and immune markers. The Freder1k study introduces genetic testing for type 1 diabetes risk within the context of the newborn screening in order to identify newborns with a high risk to develop type 1 diabetes for follow-up testing of early stage type 1 diabetes and for primary prevention trials. Consent for research-based genetic testing of type 1 diabetes risk is obtained with newborn screening. Increased risk is assessed using three single nucleotide polymorphisms for HLA DRB1*03 (DR3), HLA DRB1*04 (DR4), HLA DQB1*0302 (DQ8) alleles, and defined as 1. an HLA DR3/DR4-DQ8 or DR4-DQ8/DR4-DQ8 genotype or 2. an HLA DR4-DQ8 haplotype and a first-degree family history of type 1 diabetes. Families of infants with increased risk are asked to participate in follow-up visits at infant age 6 months, 2 years, and 4 years for autoantibody testing and early diagnosis of type 1 diabetes. After 8 months, the screening rate has reached 181 per week, with 63% coverage of newborns within Freder1k-clinics and 24% of all registered births in Saxony. Of 4178 screened, 2.6% were identified to have an increased risk, and around 80% of eligible infants were recruited to follow-up. Psychological assessment of eligible families is ongoing with none of 31 families demonstrating signs of excessive burden associated with knowledge of type 1 diabetes risk. This pilot study has shown that it is feasible to perform genetic risk testing for childhood disease within the context of newborn screening programs.