Emerging Issues in Public Health Genomics

Abstract

This review highlights emerging areas of interest in public health genomics. First, recent advances in newborn screening (NBS) are described, with a focus on practice and policy implications of current and future efforts to expand NBS programs (e.g., via next-generation sequencing). Next, research findings from the rapidly progressing field of epigenetics and epigenomics are detailed, highlighting ways in which our emerging understanding in these areas could guide future intervention and research efforts in public health. We close by considering various ethical, legal and social issues posed by recent developments in public health genomics; these include policies to regulate access to personal genomic information; the need to enhance genetic literacy in both health professionals and the public; and challenges in ensuring that the benefits (and burdens) from genomic discoveries and applications are equitably distributed. Needs for future genomics research that integrates across basic and social sciences are also noted.

Parents’ experiences 12 years after newborn screening for genetic susceptibility to type 1 diabetes and their attitudes to whole-genome sequencing in newborns

“…4 Also known as susceptibility testing, this type of screening has been loosely defined as "testing for variants that somewhat increase risk for a disease but where many people who test positive will not actually develop the condition. " 4,5 Such testing has perhaps generated the greatest degree of interest and speculation in the NBS context 6 and for some specific disorders, such as type 1 diabetes (T1D), research programs are underway. Those involved in such research contend that population-wide genetic screening for T1D risk may ultimately be a practical goal.…”

Ethical, Legal, and Regulatory Issues for the Implementation of Omics-Based Risk Prediction of Women’s Cancer: Points to Consider

“…may also prevent certain subgroups from fairly benefiting from the risk prediction approach. Approaches based on genomics may exacerbate current inequities related to socioeconomic status, education, or ethnicity [17,18]. The complexity of information involved in genomic-based approaches is a major challenge when communicating with people with low health literacy or numeracy [19].…”

Precisely Where Are We Going? Charting the New Terrain of Precision Prevention

“…Newborn genetic screening programs focus on mitigating the harms of serious genetic conditions by detecting their causal genotypes at birth and enabling interventions that prevent or mitigate the effects of disease (63, 97). Some see similar potential in expanding the range of newborn genetic screening through whole-exome sequencing (2, 97, 107).…”

“…Newborn genetic screening programs focus on mitigating the harms of serious genetic conditions by detecting their causal genotypes at birth and enabling interventions that prevent or mitigate the effects of disease (63, 97). Some see similar potential in expanding the range of newborn genetic screening through whole-exome sequencing (2, 97, 107). Others propose the application of genomic sequencing technologies to efficiently screen healthy adults for unrecognized genetic health risks, which are promoted as a way to detect subsets of the general population that might benefit from increased medical surveillance or intervention (24).…”