New Global Recommendations for Human Genome Editing may Improve Use to Cure and Treat Diseases Medical Innovation 12/07/2021 • Madeleine Hoecklin Share this:Click to share on Twitter (Opens in new window)Click to share on LinkedIn (Opens in new window)Click to share on Facebook (Opens in new window)Click to email this to a friend (Opens in new window)Click to print (Opens in new window) Dr Soumya Swaminathan, WHO Chief Scientist, at a WHO press conference on Monday. Human genome editing has great potential to improve health and serve as a tool for public health, according to two landmark WHO reports, the world’s first to issue global recommendations on the safe, effective, and ethical use of human genome editing. “These new reports from WHO’s Expert Advisory Committee represent a leap forward for this area of rapidly emerging science,” said Dr Soumya Swaminathan, WHO Chief Scientist, at a press conference on Monday. “As global research delves deeper into the human genome, we must minimize risks and leverage ways that science can drive better health for everyone, everywhere.” Human genome editing refers to the use of tools, such as clustered regularly interspaced short palindromic repeats Cas9 nuclease (CRISPR-Cas9), to modify the human genome with the intention of treating or preventing disease. The two new WHO reports make technical recommendations on the use of human genome editing technologies – as well as proposing a governance framework for WHO member states to make more coherent global policy decisions on the emerging technology. “Human genome editing has the potential to advance our ability to treat and cure disease, but the full impact will only be realized if we deploy it for the benefit of all people, instead of fueling more health inequity between and within countries,” said Dr Tedros Adhanom Ghebreyesus, WHO director general, in a press release. Human genome editing has already demonstrated potential benefits for the diagnosis, treatment, and prevention of genetic disorders; treatment of infertility; promotion of disease resistance; development of vaccines; and enhancement of knowledge of human biology. Genome editing technologies can be used on somatic cells (non-heritable cells), germline cells (not for human reproduction) and heritable germline cells (used for human reproduction). “Somatic gene editing is the one that has the immediate potential for the prevention and treatment of diseases,” said Dr Soumya Swaminathan, WHO chief scientist, at a WHO press conference on Monday. Somatic gene therapies have already been used in clinical trials to address HIV, sickle-cell disease, an inherited red blood cell disorder, and transthyretin amyloidosis, a life-threatening disease characterized by the progressive accumulation of proteins in tissues. Of the 156 ongoing clinical trials using somatic genome editing, several have had promising results, according to experts at the press conference. The technology could also improve the treatment of cancers. Human genome editing, however, raises numerous ethical, social, and equity issues. There are still significant gaps in scientific understanding and risks, particularly with germline and heritable genome editing. Heritable genome editing alters the genome of embryos, meaning that the resulting child would likely have the edits in all their cells, including their own germline, so they could pass the edits on to subsequent generations, modifying their traits. Controversial Genome Editing Experiments Prompted Creation of Advisory Committee The forward-looking reports are the result of the first global consultations on human genome editing by the WHO Expert Advisory Committee on Developing Global Standards for Governance and Oversight of Human Genome Editing. The global multidisciplinary expert advisory committee, composed of 18 experts, was convened by WHO in 2018 to develop global standards for governance and oversight of human genome editing by examining the scientific, ethical, social, and legal challenges associated with genome editing. The creation of the committee and the reports was prompted by controversial human genome editing experiments in China, Russia, and Ukraine. Researchers in China and Russia implanted gene-edited embryos into women in an attempt to prevent HIV infection. In Ukraine, a country with no regulations on germline gene editing, embryonic germline genome editing is already being used in clinics to help infertile women with mitochondrial genetic diseases to have biological children. Such real-life germline genome editing experiments have, however, remained controversial. In a 2019 statement, the WHO DG said: “it would be irresponsible at this time for anyone to proceed with clinical applications of human germline genome editing.” “Human germline genome editing poses unique and unprecedented ethical and technical challenges,” said Tedros in his statement, advising then that: “regulatory authorities in all countries should not allow any further work in this area until its implications have been properly considered.” “No one in their right mind, at the moment, should contemplate doing [heritable genome editing] because the techniques are simply not safe enough or efficient enough,” Professor Robin Lovell Badge, member of the Advisory Committee and head of the Laboratory of Stem Cell Biology and Developmental Genetics at the Francis Crick Institute in the UK, said at the press conference on Monday. Professor Robin Lovell Badge, member of the WHO Expert Advisory Committee and head of the Laboratory of Stem Cell Biology and Developmental Genetics at the Francis Crick Institute in the UK. “There’s a long way to go to get those techniques to a state where they could be used, if ever,” said Badge. Framework of Governance for Genome Editing The new reports focus on providing mechanisms for the governance of applications of genome editing technologies, offering concrete recommendations for dealing with specific scientific scenarios. The governance framework was developed by drawing from good practices in the governance of emerging technologies and applying them to human genome editing. It is intended to assist in the strengthening of oversight mechanisms. According to the committee, some existing governance structures and processes could be used for human genome editing, although they may need to be reinforced or amended. In countries where governance gaps exist, the framework advises national authorities to fill them. The committee identified values and principles to guide policy making, noted the variety of ways governance mechanisms can be used to provide oversight, and used scenarios to demonstrate how to use the framework. “The framework calls on all countries to incorporate key values and principles into their chosen policies, such as inclusiveness, social justice, responsible stewardship of science, solidarity, and global health justice, and to use those to inform how and what policy decisions are made,” said Dr Margaret Hamburg, Co-chair of the Committee and former Commissioner of the US Food and Drug Administration. Dr Margaret Hamburg, Co-chair of the Committee and former Commissioner of the US Food and Drug Administration. The framework outlines policy tools that could be used for governance, including domestic regulatory, judicial rulings, institutional standards, funding conditions, professional guidelines, and patent licensing provisions. The report applied the values, principle, and policy tools to a variety of research and clinical scenarios to demonstrate how the framework could operate in practice. The governance framework offers concrete recommendations for dealing with specific scenarios such as: A hypothetical clinical trial of somatic human genome editing for sickle cell disease proposed to take place in West Africa; Proposed use of somatic or epigenetic genome editing to enhance athletic performance; and An imaginary clinic based in a country with minimal oversight of heritable human genome editing that offers these services to international clients following in vitro fertilization and preimplantation genetic diagnosis. The governance framework was created to be “scalable, sustainable, fit for purpose at the international, regional, national, and local levels, and work in settings where regulation may be weaker or where genome editing research is not being pursued at present,” said Hamburg. “Above all it has to be practical and usable.” “There is no one single mechanism to offer absolute oversight of these evolving technologies,” said Hamburg. “It really requires a multifaceted, multilayered approach and involves educating scientists about their own responsibilities, having standards and oversight at research institutions, having professional organizations develop codes of conduct, having national regulatory and legal frameworks, and having global guidelines and standards,” said Hamburg. Recommendations on the Governance and Oversight of Genome Editing The recommendations, covering a range of real opportunities and challenges, were designed to supplement the governance framework. The committee members called upon WHO and the Director General to build on the moral leadership it showed during the COVID-19 pandemic by continuing to make clear statements about the ethical and acceptable uses of the technology. In addition, WHO should integrate human genome editing into the regulatory strengthening and capacity building teams in WHO’s Department of Essential Medicines and Health Products. Partnerships between WHO, other UN agencies, research institutions, and civil society should be established to develop a coordinated and collaborative approach to standard setting and oversight. The global registry on human genome editing, which was launched in 2019 to track research on genome editing, should be improved by establishing a vetting mechanism to flag clinical trials that may be of concern; develop an additional registry for pre-clinical research, in order to help policymakers govern proactively to developments in the field; and establish a small committee to monitor the clinical trials registry and develop a set of international standards for clinical trials involving human genome editing. “Good policies begin with good facts and registries can help provide essential information about the state of the science and direction of future applications [of the technology],” said Hamburg. In order to counter the illegal, unregistered, unethical, or unsafe research activities in human genome editing, the committee recommended developing a mechanism for confidential reporting of concerns about such activities. “The formal mechanisms of whistleblowing…[that] we’re proposing in our report should really bring together all the different mechanisms that can be used to prevent inappropriate uses of technology,” said Badge. The committee’s recommendations covered five additional areas, including: International research and medical travel; Intellectual property; Education, engagement, and empowerment; Ethical values and principles for use by WHO; and Review of the recommendations. Members of the expert committee advised that a review of the recommendations and progress made on them take place in no more than three years. Image Credits: WHO. 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