The scores also don’t account for other factors that play a role in disease risk, including age, environmental factors, body-mass index, and more, which similarly limits accuracy. Because of this, the scores may not be accurate for people from other backgrounds. And with statistical analysis, the researchers can create a polygenic risk score for an individual, which estimates how a person’s variants affect their relative risk for a certain disease.Ī significant shortcoming, however, is that polygenic risk scores were developed and validated in studies that predominantly involved people of European descent. They can then calculate which variants are common in groups of people with a single disease. Most diseases fall somewhere on the spectrum between these single-gene and complex diseases.īy comparing the genomes of people with and without complex diseases, researchers can identify the variants associated with those diseases. Coronary artery disease, for example, is linked to 60 variants. Others can be caused by hundreds or even thousands of variants across the whole genome. Some diseases, like cystic fibrosis, are caused by a single variant on just one chromosome. By studying these variants across large populations, researchers can better understand an individual’s risk of developing a disease. While some of these variants affect things like physical appearance, others influence our risk for certain diseases, making us more or less likely to get sick. In the roughly six billion letters that code the human genome, an individual will have four to five million variants, all of which may also occur in others. While all humans have nearly identical DNA sequences, each of us has genetic variants that make us unique. In this new phase of work, the Network aims to develop disease risk scores that are more comprehensive than those currently available and, importantly, applicable to a more diverse population. During the first three phases of its work, the Network used electronic phenotypic algorithms across more than 100,000 participants to electronically determine if a participant had specific diseases or traits. The funding will go to the Electronic Medical Record and Genomics (eMERGE) Genomic Risk Assessment and Management Network, a collection of hospitals and universities spread throughout the United States.ĮMERGE was created in 2007 with five biobanks linked to electronic medical records systems to conduct large-scale, high-throughput genetic research to help implement genomic medicine and provide more informed medical care to patients. The National Institutes of Health (NIH) will provide $75 million in funding over five years to support genomics research that could ultimately help healthcare providers assess, manage, and even anticipate disease risk.
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