Genomics and public health

The discipline of ‘public health genomics’ emerged as a need to provide ‘responsible and effective translation of genome-based knowledge and technologies for the benefit of the population’. It is becoming increasingly accepted that the one size fits all approach is going to be outdated soon. Targeted personalized medicines, therapies, and interventions approach will be the preferred form of treatment in the not too distant future. The fields of public health genomics, precision medicine, and precision public health have proven important aspects in improving population health. However, despite the advancements made, there are still improvements that need to be implemented to significantly improve health, especially within the developing countries. In this chapter we discuss the advancements made within the field and highlight challengers or future directions.

Are We Prepared for Precision Public Health? An Examination of Genomics Content in Graduate Public Health Programs

Objective With the completion of the Human Genome Project and swift development of genomic technologies, public health practitioners can use these advancements to more precisely target disease interventions to populations at risk. To integrate these innovations into better health outcomes, public health professionals need to have at least a basic understanding of genomics within various disciplines of public health. This descriptive study focused on the current level of genomics content in accredited master of public health (MPH) programs in the United States. Methods We conducted an internet search on all 171 Council on Education for Public Health (CEPH)–accredited MPH programs in the United States for genomics content in required and elective courses using the search terms “genetics,” “genomics,” and “molecular.” Results Of the 171 CEPH-accredited MPH programs examined, 52 (30.4%) schools and programs in 34 states offered some type of genomics education. Thirty-five (20.5%) schools and programs had a course in genetic epidemiology, 29 (16.9%) had a course in genetic biostatistics or bioinformatics, and 17 (9.9%) had a course in general public health genomics. The remaining 119 offered no course with a focus on genetics or genomics. In addition, some electives or specifically focused courses related to genomics were offered. Conclusion We found inadequate training in public health genomics for MPH students. To realize the promise of precision public health and to increase the understanding of genomics among the public health workforce, MPH programs need to find ways to integrate genomics education into their curricula.

Polygenic risk-stratified screening for cancer: Responsibilization in public health genomics

In this article, we examine professional discourse around the development of polygenic risk-stratified screening (PRSS) for cancer. Analyzing a range of contemporary professional literatures from Europe, North America and Australia, we explore how the drive to screen for molecular markers of cancer risk makes professionals, screening recipients and publics responsible, in different ways, for acquiring, curating and analyzing molecular data. Investigating how these responsibilities are invoked in discussions of new data practices, technologies, organizational arrangements, engagement, education and protocols for participation, we argue that agendas for PRSS for cancer are both expanding and stratifying responsibilities. Data collection is to be achieved by intensified responsibilities for including, reassuring and recruiting populations, as well as by opening and enriching the datasets on which models and preventative screening arrangements are based. Enhanced responsibilities for screening recipients and publics are also invoked, not just in relation to personal health but for population health more generally, via research participation and consenting to data re-use in the public interest. Professionals, screening recipients and publics are also to become responsible for moderating expectations of screening according to genomic designations. Together these discourses go beyond individual risk management to extend and diversify the responsibilities of practitioners, screening recipients and publics as public health genomics develops.

Public Health Genomics, Biobanking, and Ethics

As large-scale biobanks are developed for translational genomic research and health care quality improvement, they are also becoming attractive as sites for public health interventions, such as population-based preventive sequencing for actionable variants. With the rapid advance of next-generation sequencing, the feasibility of such population health interventions is also increasing. The resulting confluence of public health norms, fiduciary clinical obligations, and ethical expectations for research creates a number of challenges. This chapter on public health genomics examines three examples of projects facing such challenges, in order to anticipate the ethical and policy issues that public health uses of research biobanks raise for those responsible for their design and governance. The chapter looks at issues of informed consent, return of results, and community engagement.