Genomics Expert Speaks About Transforming Medicine

The Torah Center, an ambitious new adult education project in Sandy Springs, welcomed one of the architects of the relatively recent medical science of genomics.

In a brisk and sharply focused presentation at Congregation Beth Tefillah, Dr. Eric Green, director of the National Human Genome Research Institute at the National Institute of Health in Washington, D.C., led an audience of medical professionals and laypersons through a quick overview of one of the most important areas of contemporary medicine.

He described how, in 1987, as a newly minted medical researcher with a fresh M.D. and PhD, he first encountered the dawn of a new science that he believes will ultimately transform medicine. It’s what he described as the quest to understand human genetics, the blueprint that determines the makeup of each human being.

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“The word ‘genomics’ didn’t even exist until the year that I graduated with my M.D. and Ph.D. degrees,” Dr. Green said. “I had a vague idea that it might be a new and exciting frontier, perhaps one that would be ideal for me.”

Dr. Eric Green (right), director of the National Genome Research Institute, spoke at Congregation Beth Tefillah.

Just a few years after completing his education, he was recruited to work on one of the most important projects of modern-day science, the sequencing of the human genome. The feat, which resulted in six million lines of code describing the structure of our genetic inheritance, was first completed just 22 years ago in April of 2003.

According to Green, genomics has made significant strides since then.

“We’ve gone from knowing very little about the details of the functional elements encoded in our genomes to having a far more mature view of our blueprint,” Dr. Green said. “We’re still in the early days of exploration. While there are millions of letters in our DNA that we don’t know how they are involved in genome function, we have come a long way in interpreting the human genome sequence in the first two decades of having it available for study.”

Genomic medicine, or what is sometimes called “precision medicine,” uses this complex model of our genetic structure to help custom tailor treatments for individual patients who have the potential to stop deadly disease in its tracks.

Patients with rare diseases like spinal muscular atrophy and a rare variant of leukemia that were once thought to be hopeless can now be treated effectively. To treat these disorders where a single gene is the cause requires the creation of gene therapy medicines. Each one requires a complex process of replacing a virus in the medication with a gene that targets the disease in the individual patient.

Gene therapy is often a very expensive and complex treatment.

But the cost of producing these precise treatments can be extraordinarily expensive. One of the more effective medications is Erlotinib, which costs $5,000 for a monthly course of treatment. Drugs with exotic names like Osemetinib and Sotorasib are priced in the $10,000 to $20,000 range for a 30-day treatment and medications with a $50,000 per month price tag are not unknown.

Eleven gene therapy drugs that have been approved by the FDA cost more than $2 million for a single dose. One of them, approved last year, for a rare childhood disease that attacks the nervous system costs $4.25 million for each dose.

In a statement, the Japanese company that produced the expensive drug, Orchard Therapeutics, defended its record breaking cost by saying that is was justified by the “value of the therapy may deliver to eligible patients and their families,” and the “potential long-term impact” the treatment may have on healthcare costs.

While progress has been slow in creating effective treatments, the potential is immense. Reportedly there are more than 7,000 diseases that can now be traced to a single errant gene. Worldwide, the number of people who could be aided by effective gene therapy is said to number in the hundreds of millions.

Dr. Green is optimistic that as the science of genetics drops in price, as it has steadily since that first sequence in 2003, that more widespread treatments will become available.

“We have gone from having one sequence of a human genome, the first of which cost about a billion dollars to generate, to now having sequenced millions of people’s genomes, when we can do that for well under a thousand dollars,” Dr. Green says.

Along with a drop in cost has come a corresponding drop in the time it takes to sequence a human genome. The first one took 13 years; today it can be done in less than a day.

And even though it may be some time before gene therapy will cure such ailments as Parkinson’s Disease or other more common diseases like diabetes and mental illness that might be traced to sets of genes or genomic mutations, genomics is being used as a diagnostic tool.

“If you had asked me in 1990 if I thought I’d be alive to see genome sequencing become a routine diagnostic test in medicine,” Green commented, “I’d have said, ‘Absolutely, not a chance.’”