Next-generation clinical sequencing in a children’s hospital

Next-generation sequencing and analysis tools are reaching the mature stage at which mentioning their usefulness for clinical testing is not an oxymoron. Indeed, next-generation clinical sequencing has the potential to transform children’s health care, because inherited illnesses account for much of the childhood disease burden. I will discuss the first year of the integration of genomic medicine for Mendelian diseases at Children’s Mercy Hospital.