Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics.

摘要: In recent years, the cost of generating genome information has shown a rapid decline.1, 2 High-throughput genomic technologies make it possible to sequence whole exome or person at price that is affordable for some health-care systems. More services based on these are now becoming available patients, raising issue how ensure provided appropriately. order determine both clinical utility genetic testing and assure high quality analysis, interpretation communication results must be discussed so patients can receive appropriate advice testing. The Public Professional Policy Committee (PPPC) Quality European Society Human Genetics (ESHG) addressed challenges joint workshop in Gothenburg, Sweden, 2010.3 PPPC also organised workshops Amsterdam, Netherlands (January 2011 collaboration with EU-funded project TECHGENE, January 2012). A report Health Council served as background document PPPC's reflections.4 Focusing diagnostics setting, this paper intended contribute discussion development guidelines fast-moving field, provide recommendations professionals. were posted ESHG website from 20 June 1 August 2012 comment by membership. final version was approved Board December 2012.