Looking to the future during National Public Health Week

This week is National Public Health Week, which means it’s a great time to talk about public health and some of the many ongoing projects that we hope will improve it in the years to come.
15 years ago, the Human Genome project gave the world its first look at the whole human genome. Since that time, we’ve seen a boom in the number of large-scale projects using genetics to study public health—and there’s no sign of it slowing down.

Empowering public health with large biobanks and studies

A powerful tool in genetics is the Genome Wide Association Study (GWAS). This type of study looks for links between a person’s DNA sequence and their traits such as hair color, sleep preferences, and disease development. More specifically, GWAS look for these links in groups of people who show a range of different traits (like no hair, thinning hair, or a thick head of hair). Based on these patterns, we can start to understand what segments of the DNA contribute to our various traits (including our health). Over the past decade, thousands of large scale studies have been performed which have identified links between genetic variations and over 250 human traits. The more people studied in a GWAS, the more power researchers have to find variants with subtle effects.
Several biobanks have recently started that collect information from participants about their DNA sequence and traits. These biobanks enable GWAS to be performed using hundreds of thousands of individuals instead of just a few hundred or thousand. Such initiatives include the UK Biobank and the Chinese Kadoorie Biobank, both of which have the goal of collecting information from 500,000 people. These biobanks are already producing valuable insights regarding the influence of genetics on public health, and will likely continue to do so.

The Genotype-Tissue Expression project, otherwise known as GTEx, aims to explore how genetic variations affect a person’s organs at the molecular level. To do this, researchers are cataloging information about gene expression in cells from multiple types of tissue (lung, muscle, brain, and so on). With this knowledge, researchers can see how genetic variants affect genes in different parts of the body, and how that influences our physical traits. Projects like this have the potential to improve our understanding of how genetic variants lead to tissue specific health complications.
A good example of this in action is Geisinger’s MyCode Community Health Initiative. This project aims to identify genetic variants that are linked to disease development, and use that information in the future to identify patients at risk of such diseases. MyCode has an immediate impact on public health because they’re able to sequence the DNA in search of known variants that predispose people to diseases, and provide feedback to people who have these variants. The project has already collected samples from more than 175,000 patients and has helped identify patients with previously undetected diseases like cancer or Lynch syndrome.

Public health and diversity

For the most part, genetic studies have been drastically unrepresentative of non-European populations. In 2016, an analysis revealed that 81% of participants in GWAS were of European descent1. This lack of diversity can significantly hamper the usefulness of genetic research for many communities. In service of improving diversity and broadening the reach of genetics in public health, several initiatives have been started which sample many diverse populations.

These types of programs have great potential to influence public health

In 2016, The National Cancer Institute launched The Breast Cancer Genetic Study in African-Ancestry Populations initiative in order to investigate the genetic factors that contribute to breast cancer risk in black women, who tend to be diagnosed with a type of breast cancer known as triple negative breast cancer that is harder to treat. The NIH also supports a number of long-term study cohorts, such as The Multi-Ethnic Study of Atherosclerosis, The Hispanic Community Health Study, and the All Of Us research program, which aims to have about half of its participants be from non-European populations. These types of programs have great potential to increase our understanding of how genetics can influence public health in diverse communities.

Helix and public health initiatives

Earlier this year, we announced our partnership with Renown Institute for Health Innovation (IHI). The IHI team is working on the Healthy Nevada Project in which Helix will help sequences tens of thousands of individuals from northern Nevada. Scientists at IHI hope to increase understanding of how a person’s genetics and environment lead to health complications. By combining information about a person’s DNA sequence, health history, and their environment, researchers expect to make discoveries that will have a significant impact on public health in the region.

1Popejoy, Alice B., and Stephanie M. Fullerton. “Genomics Is Failing on Diversity.” Nature 538.7624 (2016): 161–164. PMC. Web. 5 Apr. 2018.