Personalized medicine is gaining recognition due to limitations with standard diagnosis and treatment; many areas of medicine, from cancer to psychiatry, are moving towards tailored treatment for individual patients based on their genetic signatures and clinical characteristics. Advances in whole genome sequencing have allowed the identification of genes involved in a large number of diseases, and biomarkers that indicate disease severity or susceptibility to treatment are increasingly being characterized. The continued identification of new genes and biomarkers specific to disease subtypes and individual patients is essential for translation into personalized medicine, in terms of estimating both disease risk and response to therapy. This article collection covers recent advances in personalized medicine across all areas of medical science and clinical practice, demonstrating that patient-tailored treatment is being employed for some diseases, whereas more work is required to translate scientific advances into the clinic for others. We are seeking submissions of original research, reviews and debates offering insights into new advances in this exciting area of medicine.