Literature review: Use of family history for primary paediatric care as the next step towards use of genomics in healthcare

Elena V. Syurina, Kristien Hens, Frans J M Feron

Research output: Contribution to JournalArticleAcademicpeer-review


Introduction: Many childhood-onset diseases and developmental disorders have a strong genetic basis. However, up till now, the knowledge of this genetic component within multifactorial diseases is not frequently used in paediatric practice. A good family history collection can facilitate the link between the present paediatric practice and the advances in genetics. This paper explores the benefits and drawbacks of the existing validated family history tools from the viewpoint of paediatric primary practice, with special attention for the mental health issues. Methodology: A literature search was conducted in the following directories: PubMed, Cochrane, Embase and Google Scholar. The timeframe was 01.01.2000 - 01.09.2011. The articles meeting the following criteria were included: original research papers in English, containing description or validation of the family history tool, for multifactorial/complex common disorders. The data were extracted from the full text of the articles. They were classified according to 14 criteria including diseases in question, level of healthcare, validation sample characteristics and results of usability analysis. Results: The majority of the family history tools, described in the literature, deal with a narrow range of diseases (some cancers, diabetes and coronary heart disease). None were tested in the paediatric healthcare. The cost-effectiveness analysis was never reported. Conclusions: The major finding of the present study is the absence of the validated tools for the family history collection for the paediatric primary care in general and in mental health in particular. The existing advances create a solid base for composition of the unified tool for paediatric primary care.

Original languageEnglish
Pages (from-to)353-372
Number of pages20
JournalCurrent Pediatric Reviews
Issue number4
Publication statusPublished - Dec 2013


  • Family History
  • Family History tools
  • Paediatric primary care
  • Public Health Genomics
  • Translational research


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