The University of Utah Health Sciences has teamed with genomics vendor NantHealth to analyze the entire genomic profiles of 1,000 or more individuals with a history of rare or life-threatening diseases in their family histories.
The goal is to identify genetic causes of 25 diseases that include multiple cancers, amyotrophic lateral sclerosis (ALS), chronic lymphocytic leukemia, autism, and epilepsy, among other hereditary conditions.
Billionaire investor Patrick Soon-Shiong, MD, created NantHealth, which offers genomic and protein-based molecular testing services on a personalized medicine platform. “As the industry continues to focus on personalized medicine, it has become more important to have tests which can not only provide clinicians with information necessary to develop personalized treatment strategies for their patients, but also has the potential to help physicians identify treatments for debilitating diseases at a targeted level,” Soon-Shiong said in a statement.
The large Mormon population in Utah offers “genetic homogeneity,” or minimal variation in the gene pool, which can help determine why certain groups of individuals may be more susceptible to particular diseases, says Will Dere, executive director of the program in personalized health at University of Utah Health Sciences. In comparison, the isolated island nation of Iceland, as well as India which has more than 2,000 ethnic groups with little mixing across groups, also offer minimal gene pool variations.
In the mid-1800s, Mormons, who typically had large families and carefully documented their family trees, began to settle in the Utah Territory. This is an ideal population for genomics research, according to Dere. “Another aspect is that they are incredibly willing to collaborate for the benefit of future generations,” he adds.
These family trees go back through many generations and being able to look at a family tree is like having a magnifying glass into changes in genetics since that time, Dere explains. University of Utah Health Sciences has a database holding information on 8 million persons who have lived in the Utah region. Today, about 3 million live in the state, and they have family histories going back to the 1800s.
Analyzing data from family trees will help researchers find disease genetic variants that will aid in the discovery process of disease-causing genes, and inform the development of drugs to manage or cure disease, Dere says.
Additional help is coming from the Utah Cancer Registry at Intermountain Healthcare, which has records and family trees in various databases, 2 million records at University of Utah Health Sciences that are linked to its electronic health record, and Utah Department of Health death records. NantHealth brings “an excellent whole genome sequencing machine,” Dere says.
Genetic samples are shipped to the NantHealth lab to analyze the sequencing with resulting data evaluated. The initiative is close to having 1,000 samples, according to Dere, but plenty of work remains to continue evaluating data.
For example, the human genome is comprised of 3 million letters and sequencing puts the letters in order to form amino acids (proteins), and there are 22,000 different proteins in our bodies, he explains. “Sequencing organizes letters so we can see how a person is making protein—how the genes are organized.”
Sequencing, Dere says, not only gives a blueprint on how genes are organized and what proteins they are making that comprise a person’s body, but also what mistakes in proteins could cause disease, or which mistakes result in over-performing proteins and enable some people to live into their 90s.
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