Dr. Church is a professor at Harvard Medical School and MIT and director of The Personal Genome Project, which provides the world's only open-access information on human Genomic, Environmental & Trait data (GET). He helped to decode the first human genome, and his innovations have contributed to nearly all "next generation" DNA sequencing methods. He is widely recognized for helping to implement a revolutionary genome-editing technology known as CRISPR. The CRISPR system can be programmed to edit precise regions of a genome and is being explored as a tool to treat the genetic causes of disease.
A "Nudge" Toward More Ethical Technologies
At the heart of many discussions on genetics and genomes, though, is the issue of ethics. Dr. Church himself has pioneered privacy, biosafety, ELSI (ethical, legal and social implications), environmental and biosecurity policies. His Personal Genome Project's goal is to "invite willing participants to publicly share their personal data for the greater good," and it requires an entrance exam with a passing score of 100 percent to ensure participants give truly informed consent.
During the seminar, Dr. Church cited the case of Henrietta Lacks, a poor African American farmer from Virginia, whose cells were biopsied during treatment for cervical cancer in 1951 and then cultured without her consent or any compensation. These cells, known as the immortal line HeLa, became one of the most significant tools in medicine, playing a vital role in developing polio vaccinatione, gene mapping, cloning, and in vitro fertilization. Though Henrietta's cells have generated millions of dollars in profit for medical researchers, she remained unknown to most until Rebecca Skloot's 2010 book, The Immortal Life of Henrietta Lacks.
Groundbreaking applications aside, Dr. Church wondered, how can we "nudge technologies in a way that is ethically better?"
One, he noted, is the equitable distribution of transformative technologies such as genome sequencing, bringing down the cost so they are accessible to most, if not all, individuals. The human genome was first sequenced with funding from the National Institutes of Health (NIH) at a cost of nearly $3 billion over the course of 13 years (The Human Genome Project, 1990-2003). In 2008, the cost was down to about $10 million. Today, anyone can have his or her genome sequenced for about $1,000, which may disclose vital medical information that helps the individual lead a longer, healthier life.
But what can your with genome tell you? Dr. Church gave a few examples of people who have benefited from sequencing technology. The teenaged Beery twins, misdiagnosed with cerebral palsy (CP), were revealed to suffer from dopa-responsive dystonia (DND)—a rare condition that mimics the symptoms of CP, but that can be treated with over the counter supplements. Or Bloomberg health reporter John Lauerman, who was found to have a rare JAK2 variant gene that posed an elevated risk of blood clotting. He manages the condition with a daily aspirin. Or perhaps the most famous case, actress Angelina Jolie, who underwent a preventive double mastectomy after learning she had an 87% risk of developing breast cancer due to a defective BRCA1 gene.
Changing the Rules of Inheritance
A key in developing biotechnologies is to think into the future, Dr. Church noted. Even if something is safe and effective today, does it give scientists pause when thinking of future generations and potential commercial or government usage? Whatever the dangers are along the "slippery slope," he said, "doing nothing is also risky."
For example, drugs and vaccines designed to treat malaria are temporary fixes at best. "Every year that we don't do something, we lose hundreds of thousands of people," Dr. Church said. A gene drive that instead treats the carrier animal could entirely wipe out the disease in the mosquito population in a particular area—but the results could potentially affect an entire ecosystem.
Dr. Church compared these extremes to how we set laws for automobiles and drivers—just because people die in automobile-related accidents every year, doesn't mean there should be no cars on the road. "We regulate practices by analyzing the costs and benefits and setting points along a continuum in the form of speed limits, age limits, blood alcohol levels," he said. "Nothing magical happens at 55 miles per hour. You just need to regulate at points along a curve."
Dr. Church's lecture was sponsored by the Biology Club and was the first off-campus invited speaker in the FENS (Forum for Emmanuel's Natural Sciences) Seminar Series. Assistant professor of biology Jason Kuehner and the Biology Club's Katie Gilmore offered the welcome and introduction. Following the seminar, Dr. Church joined Emmanuel students and faculty for dinner and continued a wide-ranging discussion.