By Samantha Black, Ph.D.

A new partnership was announced between Intermountain Healthcare and deCODE Genetics to collaborate on the largest DNA mapping effort undertaken in the US from a single population. The initiative, called the HerediGene: Population Study, will analyze the complete DNA of 500,000 participants.

Participants in the study will consent to the testing and have the option to receive their genetic results report if a clinically significant gene mutation is identified. Data anonymity is ensured before it is utilized in research to help medical professionals better understand the human genome and enhance their ability to prevent diseases such as breast cancer, colon cancer, and heart disease. Intermountain Healthcare is a Utah-based not-for-profit integrated healthcare delivery network, and deCODE Genetics is a wholly owned subsidiary of Amgen based in Reykjavik, Iceland.

Why are gene mutations important?

The detection of single nucleotide polymorphisms (SNPs) or gene variants from tissue, blood, urine and saliva samples can be used to diagnose inherited diseases and genetic disorders as well as determine the risk of disease manifestation or progression. Point mutations in genomic DNA occur when a single nucleotide (A, T, C, or G) sequence is altered. Many SNPs have no effect on cell function, but scientists believe others could predispose people to disease or influence their response to a drug. Although more than 99% of human DNA sequences are the same, variations in DNA sequence can have a major impact on how humans respond to disease, environmental factors (e.g. bacteria, viruses, toxins, and chemicals), and drugs or other therapies. Five percent of the approximately 30,000 genes in the human genome are estimated to be diagnostically significant. This is the potential that the HerediGene project seeks to harness for disease prevention.

How does complete DNA analysis help with inherited disease diagnostics?

The collaboration will support research in systems biology and genome relationships between intra-and inter-cellular mechanisms which will lead to new clinical molecular assays in the area of inherited diseases and genetic disorders. For example,cardiovascular disease (CVD), including heart attack and stroke, is the leading cause of death in the world and claims more lives than all forms of cancer combined. The number of deaths from cardiovascular disease worldwide is projected to reach approximately 24 million by 2030. Genetic testing is becoming more evident in cardiovascular care to detect potential cardiac conditions and implement preventive care. Some genes linked to CVD, such as the ApoE gene, are involved in lipid metabolism and especially how low density lipoprotein (LDL) cholesterol is removed from the bloodstream. Certain genotypes can result in the accumulation of LDL in arteries and the development of coronary artery disease.

How does complete DNA analysis help with cancer diagnostics?

Currently, molecular tests are routinely used for identification of hereditary cancers and to select the most effective treatments based on molecular characteristics of tumor tissues or some other parameters indicating malignant disease. Many more applications are in the developmental stage. Some of the applications gaining interest in cancer management include monitoring of residual cancer, early cancer detection and differentiation of tumors of distinct histologic origin, which in turn is helpful for diagnosis of cancers of unknown primary site. The remaining majority of molecular cancer diagnostics are hybridization assays or nucleic acid amplification tests (NAAT) and are performed from tissue samples or blood cell genomic DNA, rather than cell-free DNA. New technologies with high potential in precision medicine include liquid biopsies and next generation sequencing testing.

"While the 500,000 samples will be collected primarily from patients in Utah, the research is expected to have a global impact as medications, treatments, and healthcare innovations that can benefit patients universally are developed from the findings," said Lincoln Nadauld, MD, PhD, Intermountain's chief of precision health. "The collaboration is noteworthy and unique in its size, scope, and immediate application to patient care."

"Better health and being able to cure common diseases is the promise of precision medicine, but it's not happening fast enough," said Marc Harrison, MD, president and chief executive officer at Intermountain Healthcare. "For too long, the genetic code to better health has been locked. This collaboration with deCODE unlocks that insight so we can rapidly advance well-being - not only for ourselves and our families, but for generations to come."

Insights from the collaboration may power fundamental changes to better understand the human genome, improve health, and prevent common diseases.


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