Abstract

Over the past two decades there has been a rapid expansion in our understanding of how human genetic variability impacts susceptibility and severity of disease. Through applications of genome-wide association studies, genome and exome sequencing, researchers have made thousands of discoveries of genetic variants that impact risk of common and rare disorders affecting millions of people. Although these techniques have been primarily applied to highly prevalent chronic disorders such as diabetes1 and cardiovascular disease2, infectious diseases have proven to not be immune to genome-wide association, with studies of Tuberculosis3, HIV4 and SARS-CoV25, to name but a few, identifying host susceptibility loci across the genome. Unlike non-communicable diseases, infectious diseases have the unique element of impacting not only the affected the host, but those who may be most vulnerable to acquiring the infection. Thus, genetic variants that impact one individual’s susceptibility to and severity of an infection may also have broader implications to public health, as was brought into keen focus during the COVID-19 pandemic. Therefore, as we begin to apply the knowledge gained from genomic studies in the clinic or into policy, there are unique ethical, legal, and social implications (ELSI) at the intersection of infectious diseases and human genomics. In this issue of the Journal of Law, Medicine and Ethics, Jose et al attempt to address this need by proposing a research agenda for ELSI studies at what they term the “blurred boundaries” of infectious and genetic diseases.6.