The field of genomics continues to grow and evolve in new and exciting ways. However, much of genomics research has been focused on precision medicine that is tailored toward an individual patient. The role of genomics in population health has been, to date, controversial, and underexplored. As technology continues to develop, genetic testing is becoming cheaper, more cost efficient, and more amenable to implementation on a population level. Our understanding of how genetics contributes to a patient’s health is also progressing rapidly. It is possible that, with this expanded knowledge, in the next few years genetic testing could be utilized to improve the health of populations as a whole. The goal of this review is to explore the potential benefits and concerns about using genomics in population health, and to describe emerging technologies in the field of genomics as it relates to population health.
"While it remains to be seen exactly how meaningful an understanding of genomics will be in improving a patient’s health, the resource expenditure borne by society will indirectly come at the cost of other therapies and interventions not related to genomics"
Potentials of Technology
Genomics science has proven vital to certain fields of medicine, for example, oncology and obstetrics. In oncology, genomic science is used to identify tumor mutations, which helps to guide treatment strategies, leading to higher efficacy. In obstetrics, genomic science may increase the percentage of healthy births through the use of preimplantation genetic screening (PGS) during in vitro fertilization (IVF), which may reduce the rate of miscarriage and birth defects.
However, the role of genomics in population health is far less established, even though several studies in population genetics have demonstrated that genetics can and do play a role in various disease processes. It has been shown that certain single nucleotide polymorphisms (SNP), which when coupled with population-level environmental and social risk factors, can be used to predict a patient’s risk for heart disease, high cholesterol, and even breast cancer. Additionally, several SNPs have been identified as having an effect on HbA1c (one of the primary screening tests for diabetes mellitus), which may one day have an impact on diabetes screening in certain populations. As evidenced by this early work, genetics clearly has an impact on chronic health conditions. But how this knowledge can be successfully utilized to benefit the health of the population remains to be seen.
Potential Opportunities for Innovation
Despite the obvious appeal of harnessing the genome in order to treat and evaluate patients, there are several barriers to the incorporation of genomics into population health. For one thing, many chronic health conditions are extraordinarily complex, stemming from a spectrum of health and social determinate factors in addition to genetics. Additionally, it is still unclear, and remains extremely costly to identify, which genes play meaningful roles in chronic health conditions. The level of genetic science required for this is estimated to be in the order of a hundred million sequenced genomes. And the storage of this information is estimated to consume potentially exabytes of data (1018 bytes), which exceeds all current practical limits. Finally, while it remains to be seen exactly how meaningful an understanding of genomics will be in improving a patient’s health, the resource expenditure borne by society will indirectly come at the cost of other therapies and interventions not related to genomics.
In addition to these technical challenges, there are other social factors to consider as well. One challenge will be in health literacy: how best to educate different populations about genetic screening, why it is needed, how to appropriately obtain informed consent, and how to apply appropriate health literacy for diverse social groups. Genetic information is very sensitive, and these health literacy questions will require a thoughtful approach. Finally, how providers communicate the results of genetic analysis is an area in need of innovation: according to the US Borough of Labor Statistics, in 2014, there were only 2,400 genetic counselors serving the entire country. This will likely not be enough to cover the increasing needs as demand genetic testing becomes more mainstream.
Emerging Genomics Technologies
Despite the challenges of utilizing genomics on a population level, there are many companies working to innovate in this area. The area receiving the most attention at this point is data management and analytics. There are several startup companies including Phosphorus, iGentify, and others actively focused on developing precise clinical-grade genetic assays, and developing the software to quickly and accurately analyze genetic material from patients as well as to present results in a meaningful and interpretable format. Many of these companies provide cloud-based software, which (so far) provides enough storage space for the enormous data sets involved in these smaller scale genomic analytics. There are comparatively fewer companies currently innovating in health literacy, although companies like iGentify are developing algorithms that incorporate a patient’s personal information in conjunction with their genetic data to generate a unique, personalized video to explain the results of genomic analysis in a way that best suits the patient.
Our understanding of the role of genetics in our health has increased dramatically in the last several years. As genetic testing becomes cheaper and simpler to perform, it has potential for incorporation into population health. While there is much being done to make the analysis and data management aspects of genomic medicine easier, there are clearly opportunities for innovation in the delivery of genomic analysis to the population as a whole.