In November 2018, a Chinese biophysicist used a gene-editing technique known by the acronym CRISPR to edit human embryos for reproductive purposes, and he announced the birth of the first-ever genetically modified children — twin girls named Lulu and Nana.
The reports rocked the biomedical research world. If true, the use of CRISPR to modify the DNA of human embryos defied global norms for research and ethics, and though no peer-reviewed data was published and many questions remain, the research community has been coming to grips with the news ever since.
"This announcement made waves among both scientific and bioethics scholars because the researcher cut corners — it was not done to the highest ethical standards," says Karen Meagher, Ph.D., assistant professor of Biomedical Ethics at the Mayo Clinic College of Medicine and Science. "What’s more, these kinds of gene edits are heritable. They can be passed from one generation to the next. This raises questions about who makes such big decisions about what genetic changes are acceptable and why — decisions that could affect generations."
Dr. Meagher and three Mayo Clinic colleagues have published a commentary in Mayo Clinic Proceedings that takes a close look at what went wrong with the process in China and how it challenged the implicit "social contract" between science and society. "Advances in genetics can inspire both hope and trepidation," Dr. Meagher says. "We want to be sure that physicians feel equipped to help patients navigate this new science, and collectively shape the path forward."
CRISPR has opened the door to amazing medical advances that will lead to life-changing cures and treatments. The array of DNA sequences was first described in a study more than 30 years ago, and the lessons learned for genetic editing have been used in farming, food production and other industries for years.
"Medical professionals should expect that patients may have questions about where we stand with gene editing and the ethical considerations that go along with it." - Karen Meagher, Ph.D.
Over the past decade, CRISPR research has accelerated, and many scientists have recommended a moratorium on using it to manipulate the human germline until accepted research practices and ethical norms can catch up with the science. Calls for a moratorium were renewed with urgency after the experiment in China.
That case may have opened a Pandora's box of negative consequences, including the potential for government getting involved in regulating how scientists and institutions do their research.
"Patient expectations of advances in genetics and the safety of research can be shaped by this type of event," says Dr. Meagher, whose academic interests include the ethics of emerging genetic technologies and their health care implications. "Medical professionals should expect that patients may have questions about where we stand with gene editing and the ethical considerations that go along with it."
'Illegal medical practices' lead to prison terms
The experiment in China didn't end well for the researchers. The biophysicist, He Jiankui, went into hiding as an investigation was launched. In December 2019, he pleaded guilty to “illegal medical practices” and was sentenced to three years in prison. The court ruled that Jiankui and two associates violated Chinese regulations on biomedical research and ethics.
Among the lessons from the case: It is difficult—perhaps impossible—to establish shared norms of research and bioethics on a global scale, but it's essential to work toward that goal. "Careful reflection and inclusive problem-solving are needed to ensure that high ethical standards, not scandal, lead the way forward," Dr. Meagher says.
Among the concerns raised by the Jiankui case:
Those details weren't known until months after the initial report, however. "In today's world, news stories take shape so quickly that early reports often have important inaccuracies or omissions," says Richard Sharp, Ph.D., co-author of the article and director of Mayo Clinic's Biomedical Ethics Research Program. "These inaccuracies can linger and color public views of medical advances — or in this case, research scandals."
Patients, physicians increasingly have a role to play
The experiment and the worldwide attention it attracted inevitably will raise questions for some patients. "A person may only see a headline or two, but it can raise questions about the future of gene editing," Dr. Sharp says. "We wanted to make sure that providers have the information and tools to have those conversations."
This is especially true as more stories about gene editing involving CRISPR and other tools are in the news. Just this month, U.S. researchers announced they had used the gene-editing technique to edit a gene to treat blindness while the DNA was still in the patient's body.
To prepare for the questions patients may have and that research colleagues must address, Dr. Sharp and colleagues have these takeaways:
"Researchers, clinicians and patients all have a role to play in asking questions about genetic treatments or research studies available and whether they are a good option," Dr. Meagher says. "At the local level, clinicians and patients can ask, how is this new study including the patient not as a subject of investigation but as a partner in research, and are researchers taking their values seriously?"
Those discussions are needed now more than ever, as breakthroughs occur daily, it seems, and long-established processes and norms are challenged.
"This scandal highlights the urgency of a coordinated response from the scientific community," says Dr. Sharp. "Our task now is to pivot from this controversy to foster a broad, international conversation that aims to describe not only the types of gene-editing research that we believe is ethical but the types of research that are essential for advancing the goals of our patients."
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