A special issue of the Association for Diagnostics & Laboratory Medicine’s (formerly AACC’s) The Journal of Applied Laboratory Medicine highlights the latest research in this field that could advance care for conditions ranging from infectious diseases to inherited disorders.
Sequencing cell-free DNA in blood samples has the potential to improve infectious disease evaluation and treatment, and is explored in a study published in this issue.
Technologies such as next-generation sequencing (NGS) have the potential to increase the availability of pharmacogenomic information, and a review in this special issue of The Journal of Applied Laboratory Medicine discusses how clinical laboratories can implement NGS for this purpose.
One other compelling use for molecular diagnostics that is showcased in this special issue is genomic population screening, which has the potential to shift the healthcare paradigm from reactive to proactive. In many countries, programs are already being piloted at population scale that detect genetic diseases prior to symptom onset, thereby enabling preventive treatment. A review article in this special issue examines important practical considerations that must be taken into account as such programs expand, such as their economic benefit and the development of policies to guide them.
