Human Genome Project - 'A race to the starting line'

Human Genome Project — ‘A race to the starting line’

By
Susan Murphy

October 30, 2020

This month marks the 30th anniversary of the launch of the Human Genome Project, an international endeavor that mapped the 3 billion DNA letters that make up the blueprint of human life. The ambitious project began in October 1990 and was completed in April 2003.

Today, researchers and clinicians with Mayo Clinic Center for Individualized Medicine are taking the landmark achievement a giant step forward — into the clinic — and using a patient’s unique genetic code to precisely diagnose, treat and predict disease.

“The Human Genome Project was not a race to the finish line, it was a race to the starting line,” says Richard Weinshilboum, M.D., interim director for the Center for Individualized Medicine.

“Genomics and all of the multiple technical advances like proteomics (study of proteins in a cell), metabolomics (study of chemical processes), microbiome (study of bacteria, fungi, protozoa and viruses that live inside the body) and transcriptomics (study of RNA transcripts, including coding and non-coding in a cell), are now being applied at Mayo Clinic to diagnose disease, to treat disease and eventually to prevent disease,” says Dr. Weinshilboum.

Transitioning genomic medicine from the lab to the clinic

As a result of the far-reaching accomplishment of the Human Genome Project, Mayo Clinic Center for Individualized Medicine is now tailoring a range of therapies for hard-to-treat cancers and rare disorders based on a patient’s genome, rather than grouping patients into broad categories of disease types and using a one-size-fits-all approach.

Unimaginable three decades ago, Mayo researchers and clinicians are teaming up to target advanced cancer by creating miniature cancer replicas for testing therapies outside a patient’s body, combined with a comprehensive genomic analysis of a patient’s cancer cells. The Center’s teams are also conducting genetic testing on patients with cancer to uncover inherited mutations to improve survival and manage care in their loved ones. Furthermore, they’re using immunotherapies, such as genetically modified CAR-T cells to recognize and destroy cancer cells.

“From this Herculean effort to assemble the first complete draft of the human genome, we have advanced to a point where the idea of sequencing the genome of every patient being seen at Mayo, every person in the world, is becoming a reality,” says Eric Klee, Ph.D., associate professor of Biomedical Informatics with the Center for Individualized Medicine.

In an effort to eradicate rare inherited diseases, the Center’s researchers have developed tools to pinpoint RNA anomalies, and advanced technologies such as CRISPR in an effort to prevent the development of disease altogether. Furthermore, the Center is focusing on phage therapy, the use of natural viruses and genetics to treat complex bacterial infections. This will become increasingly important as antibiotic resistant infections increase across the globe. In addition, researchers are honing in on genetic clues in the microbiome — the millions of bacteria residing in the digestive systems — to diagnose and treat patients’ chronic diseases.

Putting massive genomic data sets into action

The Center has launched a new Omics Data Platform to harness and interpret the staggering amounts of genomic and multi-omic data sets that make it possible to provide patients with precision therapy. Omics are various disciplines in biology whose names end in the suffix -omics, such as genomics and proteomics. The Omics Data Platform is a system and a program with the goal of centralizing all omics data of Mayo Clinic patients into a single repository, and making it accessible and useful to Mayo Clinic’s physicians and researchers.

“The ability to make this information actionable for an individual patient, as well as make transformative health care discoveries using data from all patients, are cornerstones of what the Center for Individualized Medicine’s Omics Data Platform initiative is all about,” says Dr. Klee, “Centralization of all Mayo patient omic data into a single, organized and efficient repository, will stimulate new opportunities for improving the care and treatment of our patients.”

To help comb through the vast amounts of genomic data, the Center’s researchers are increasingly using artificial intelligence (AI) to discover patterns and solutions, while relying on bioethics experts to help navigate critical issues.

AI algorithms are helping the Center’s clinicians predict diseases and drug responses, including for anti-depression, congestive heart failure, rheumatoid arthritis and cancer. For example, researchers are using AI to develop a digital pathology workflow to detect a genetic mutation in melanoma and reduce the time to treatment, therefore improving survival. Recently, researchers used AI to rapidly scan MRI images and successfully identify molecular markers for patients with glioma, a type of brain cancer, with more than 90% accuracy.

“We are now able to combine DNA and other omics with artificial intelligence science to better select medications to treat a variety of conditions,” says Sanjay Bagaria, M.D., the Cecilia and Dan Carmichael Family Associate Director, Center for Individualized Medicine at Mayo Clinic’s campus in Florida. “We are also able to use our understanding of DNA to design gene therapies to treat inherited conditions such as metabolic disorders in infants and create immunotherapies to combat cancer.”

Building the workforce of the future

The achievement of genetic sequencing has paved a path for scientists in the Center to advance novel technologies that search beyond DNA into the clinic. As global leaders in individualized medicine, the Center plans to continue building and educating the workforce of the future to ensure that genomics in medicine will be ubiquitous, automated and scaled.

“Pushing the bounds of individualized medicine requires building a multidisciplinary workforce with expertise in genomics, bioinformatics and data science to ensure that our patients receive the full benefits of personalized health care, says Timothy Curry, M.D., Ph.D., co-director for Clinomics program in the Center for Individualized Medicine. “We are focused on developing careers to support the clinical adoption of omics and to equip staff with individualized medicine knowledge to integrate genomic medicine into clinical practice.”