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Ireland's GenoFit Study Aims to Understand Genomics of Health and Fitness


SAN FRANCISCO (GenomeWeb) – The University College Dublin and Genomics Medicine Ireland have launched a study that aims to understand the relationship between genomics and individual health and fitness.

The UCD Institute for Sport and Health has established a new clinic for the study, and the research team plans to recruit 5,000 healthy individuals to undergo whole-genome sequencing and a range of other health and fitness tests, including bone density scans and measurements of aerobic capacity and body mass composition.

Genomics Medicine Ireland is funding the study and will conduct the sequencing, which includes whole-genome as well as RNA sequencing. The firm, which launched in 2015, is currently in the midst of building out its sequencing center in Dublin, which will be equipped with Illumina's NovaSeq, Sean Ennis, GMI's chief scientific officer, said. The NovaSeq is currently being housed at the UCD Conway Institute, and GMI personnel will run the sequencing portion of the study there until its lab is completed.

Giuseppe De Vito, co-head of the study and head of physiotherapy and sports science at UCD's School of Public Health, said that the researchers aim to enroll 1,000 individuals per year over the five-year period. The aim of the study is two-fold, he said. Because it will include extensive fitness and health markers, it will "provide a dataset of health indicators across multiple demographics within a population in Ireland, Ennis said. In addition, GMI plans to use the genomic data from the 5,000 individuals as controls for the firm's own disease-focused studies.

To date, most fitness-related genetic studies have "focused on elite performers," De Vito said, "trying to find genetic markers of excellence." But those studies have not been very conclusive, he said. In the GenoFit study, the group is not focused on identifying the markers that separate out an Olympic gold medalist from someone who finishes fourth or fifth, but rather markers that can influence aerobic capacity or muscle mass.

The GenoFit study is open to anyone over the age of 18, and researchers will be recruiting from the broader UCD campus and especially individuals who visit the Institute for Sport and Health, which De Vito said includes everyone from "Olympic athletes to frail elderly."

Participants will also undergo a series of health assessments and tests. Researchers will test body mass index, blood sugar and glucose levels; administer a fitness test; perform a type of bone scan known as DEXA; and survey participants about lifestyle factors such as diet, exercise, and sleeping habits.

Participants will receive results of the fitness test, DEXA scan, and other specific health tests, like the blood glucose levels, but will not get genomic results back, Ennis said.

After sequencing and health and fitness testing, De Vito said the first step will be a broad discovery phase. Researchers will sift through the data to see if any associations jumped out between genetic markers and health or fitness that should be further studied.

Next, researchers will design studies to dig deeper to understand specific connections. De Vito said he is particularly interested in looking at genetic associations with bone density, which could potentially lead to insights relevant for osteoporosis. There are already some genes known to be associated with osteoporosis, he said, so those genes would be an obvious place to start. But, the study will enable the team to look at other genes and also to ask questions about the influence of diet or physical activity.

De Vito said the vast amount of data collected should provide fodder for researchers for years to come, well beyond the five-year project itself.

Focusing on the Irish population will be another advantage, De Vito said. Because Ireland is an island, the population is relatively small and homogenous. The population is "exposed to similar climactic conditions, from the same geographic area," so that provides a level of control that wouldn't exist in more diverse countries.

GMI also plans to use the genomic data from the 5,000 individuals as controls for its disease-specific studies. The firm raised $40 million in Series A funding last year, which it plans to use to sequence 60,000 whole genomes and to genotype 100,000 individuals. It is modeling itself after Iceland's Decode Genetics in its population-based genomics effort, with one difference being that GMI will plan to focus on specific disease cohorts. Ennis declined to disclose how far along the firm is in its sequencing effort, but noted that it has already begun studies for multiple sclerosis, inflammatory bowel disease, rare genetic disorders, and brain cancer.