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When it comes to CRISPR, patients need a seat at the table

Silhouettes of People Standing on DNA Gene


Imagine that you are diagnosed with a fatal disease caused by a defect in a single gene. If technology existed that could “edit” the error and cure the disease, would you use it? Would you edit a gene that caused a significant disability, such as blindness? What about for a genetic trait that increases your risk of obesity or alcoholism? Would your decisions change if it were your child’s genome?

Families will soon have to grapple with these questions; the gene-editing technology CRISPR-Cas9 may one day become a tool to edit mutations underlying genetic diseases in humans.

On Friday, March 16, Erika Check Hayden, science journalist and director of the Science Communication Program at the University of California, Santa Cruz, posed these questions to the scientists, physicians, ethicists and industry and community leaders attending the Frontiers of Precision Medicine III – Will Personalized Medicine Improve Population Health? Personalized medicine is typically sold as tailoring treatment to an individual’s genetic makeup to improve health. In her closing keynote address, Check Hayden argued that the realities are more complicated for families who would be most affected by gene-editing technologies.

“As this research comes to have a much broader health impact, it’s important to realize that the assumptions that we [the scientific community] might make about what the public wants from this research might not fit with what the public actually does want and expect from this research,“ she said.

The patient perspective

For years, the research community has debated how to utilize CRISPR. In 2015, Dana Carroll, distinguished professor of biochemistry at the University of Utah, joined 18 concerned scientists in a call to ban genetically engineering human embryos until scientists, physicians and the public established safe and ethical practices. Carrol co-invented a precursor technology that led to the rapid development of successor technologies, including CRISPR.

In December of that year, the National Academies of Sciences cohosted an International Summit on Human Gene Editing. Check Hayden, then a reporter for Nature, was covering a panel of experts debating how gene-editing technology should be used. She noticed that no patient advocates had been invited to express their hopes and concerns about the technology. She set out to report on their perspective.

Check Hayden discussed the resulting article that appeared in Nature in which she asked patients how they would like to use, or avoid, CRISPR gene-editing technology.

No, thank you.

Ruthie Weiss is a mostly typical 10-year-old, Check Hayden told the room. She skis, swims, plays the piano and has lots of friends. Ruthie also has albinism; a mix-up in one of her genes prevents her body from producing a sufficient amount of the pigment melanin. In addition to fair hair and light skin, the mutation severely impacts her vision; Ruthie is legally blind.

Check Hayden asked Ruthie’s father Ethan, a physician-scientist at UC San Francisco, a hypothetical question. If he could, would he fix Ruthie’s dysfunctional gene? He said no. Albinism is part of what makes Ruthie who she is, he said.

“He talked about how determined she is – as an athlete,” Check Hayden said. When she started playing basketball, she was the worst player on the team. To get better, she practiced daily and by the next year was the best player on that team. “For him, it’s a part of her that he wouldn’t want to see erased,” she said.  

Ethan asked Ruthie whether she wished that they had edited the gene. Ruthie said no. Would she change her children’s genes to ensure that they could see? No, she said without hesitation.

What many would perceive as a deficit, Ethan and Ruthis see as an asset. Her “disability” has made her a better person and has inspired people around her. And yet, families facing other challenges would make different choices.

“I would be knocking down the door.”

Charles Sabine and his older brother both inherited a genetic mutation that causes Huntington’s Disease (HD). HD is a fatal genetic disorder that destroys the nerve cells in the brain, deteriorating a person’s physical and mental abilities as early as 30 years of age. Their children have a 50 percent chance of inheriting the mutation, and there is no cure. Check Hayden asked Sabine if he would use CRISPR to edit his genes, his kids’ genes, and his brother’s genes. He didn’t hesitate.

“He told me, ‘If there was a room where I could go and have my genes edited, I would be knocking down the door,’” Check Hayden said.

Even other families with HD make choices you might not predict, Check Hayden continued. Currently, people with HD can use science to ensure their children are HD-free. Parents create multiple embryos in a lab, screen for the mutation, then implant a healthy embryo into the uterus. According to a physician with whom she spoke, only 5 percent of parents conceive this way. There are multiple reasons; people have ethical concerns, the procedure is cost prohibitive, and some parents think that 50/50 odds are worth the risk.

Check Hayden stressed that examples like these highlights need for the scientific community to understand patients’ hopes and fears to guide CRISPR research.

“Decisions that we in this room might think that patients would make about how they want these technologies to be used are not necessarily the way that patients actually do want these technologies used,” said Check Hayden. “And the flip side of that is that there might be patients that are not being well-served by science who really want us to work on their issues.”

Frontiers of Precision Medicine III – Will Personalized Medicine Improve Population Health? was a collaborative effort between the University of Utah S.J. Quinney College of Law, Center for Law and Biomedical Sciences, Huntsmen Cancer Institute and the School of Medicine.

Videos of the talks and panel discussions can be found online.

Find more reporting from the conference on the U of U Health blog, Algorithms for Innovation.

By: Lisa Potter

Lisa Potter is a Science Writer for the University of Utah.