Host genomics in diagnosing inborn errors of immunity and tailoring infectious disease treatments

Genomic technologies are widely applied clinically to identify pathogens and their antimicrobial susceptibilities, but less use is made of patients’ germline genomic variations in infectious disease management. Not only can inborn errors of immunity (IEIs), most of which are rare, be detected before severe complications develop, but host genomics can assist with risk stratification for severe common infections, antimicrobial therapy selection, and pharmacogenomic-guided dosing. Over 30 clinical immunologists, infectious disease specialists and geneticists met to outline challenges and opportunities concerning host genomics and infectious diseases. Obstacles identified included payer requirements for extensive conventional diagnostics prior to genetic testing, lack of electronic health record (EHR) interoperability, and limited evidence of efficacy and cost-effectiveness given the individual rarity of most IEIs. Priorities to broaden the use of host genomics include publicizing indicators of IEIs, building them into EHR informatics systems, and promoting multidisciplinary approaches to identifying patients with IEIs.