It wasn’t long ago that doctors had few, if any, therapies to offer patients who presented with rare genetic diseases. But a lot has changed in the past couple of decades.
“In my own career, when I started training 20 or so years ago, there were very few therapies available for rare genetic diseases,” said Dr. Brett Graham, M.D., Ph.D., an associate professor in the Department of Medical and Molecular Genetics at the Indiana University School of Medicine. “And now, there’s just so many more.”
Know thy enemy
One of the key reasons research into genetic diseases has come so far over the past few decades is the Human Genome Project, a collaborative scientific effort (that was finished in 2003) in which the entire human genome was mapped and sequenced.
“That gave us for the first time, at least in theory, the ability to understand everything about the genetics of our bodies,” said Dr. Jerry Vockley, M.D., Ph.D., a professor in the Department of Pediatrics at the University of Pittsburgh School of Medicine.
When Dr. Vockley graduated from the University of Pennsylvania almost 40 years ago, gene therapies were something of a far-off concept. But because the Human Genome Project introduced exome and genome sequencing as diagnostic tests, it allowed clinicians to make informed healthcare decisions for patients with these disorders, and researchers to develop more targeted therapies.
“To treat a genetic disease, you have to, at the genetic level, know what it is you’re treating,” Dr. Vockley said. “To really be able to go down to the nucleotide level, and start understanding the basics of these diseases, that really provided us with the opportunity to develop therapies that were based on pathophysiology.”
Now Vockley specializes in genetic disorders related to fatty acid oxidation — a field that didn’t even exist when his career began. As he sees it, that should serve as a source of hope for those with rare genetic diseases; with new disorders being identified every day, therapies for many of these conditions are quickly advancing as well.
“The amazing thing about the field of genetics is that every five years for probably the past 30 years or so, it’s reinvented itself,” Dr. Vockley said. “It’s that rapidity that allows me to sort of shrug my shoulders at the roadblocks we’re seeing today and say, ‘It’s a temporary inconvenience, and we will not only get past it, we’re going to blow past it.’”
Supporting geneticists
Dr. Vockley is a board member of the American College of Medical Genetics and Genomics (ACMG) and Dr. Graham chairs its Therapeutics Committee. Through political advocacy, community outreach, aggregation of resources, and more, the ACMG serves as a critical resource for medical geneticists and their patients.
Because of contributions and advocacy provided by the ACMG, similar organizations, and the U.S. government, Dr. Graham says there are hundreds of clinical trials ongoing for genetic diseases, resulting in a constant flow of therapies and cures becoming approved and available. “That really is changing the face of medicine,” he said.
As the field of genetics is constantly evolving, the ACMG also aims to inspire more medically inclined professionals to pursue careers in genetics so they can further advance our understanding of and therapies for these disorders.
“With 7,000 diseases and technology that’s advancing rapidly, there aren’t enough geneticists out there,” Dr. Vockley said. “For every one person who finishes training, there are probably half a dozen jobs to fill. So, it’s one of the goals of the ACMG to get our message out to medical schools and get medical students excited about it.”
Learn more about the advocacy, support, and resources the ACMG provides by visiting ACMG.net.
