Researchers now have new ethical guidance for conducting autism genomics research.1 “The recommendations were motivated by timely topics and ongoing debates in human genomics,” says Heini M. Natri, PhD, who led a multidisciplinary working group in developing the guidance.
Stakeholder communities (such as the autistic community and the wider disability community) have criticized some uses of genetic technologies. With pre-implantation genetic testing, for example, it’s possible that genetic information could be used to discriminate against someone. This particular concern has been voiced by scholars of the ethical, legal, and social implications of genetics and genomics, notes Natri, a computational scientist at the Translation Genomics Research Institute’s Banovich Lab in Phoenix, AZ.
Advocates have urged the research field to include people with autism in decision-making when setting research agendas and disseminating research findings. “We recommend that investigators move toward co-production and participatory approaches,” says Natri.
The Spectrum 10K project, which researchers hoped would be the largest genetic study of autism to date in the United Kingdom, was launched in August 2021.2 The study was halted a month later in response to protests and ethical concerns. Questions were raised about consent processes, data access and security, and possible downstream uses of the research including prenatal testing.
“There was a realization that researchers needed to better understand and address community concerns before proceeding with the project,” says Carolyn Riley Chapman, PhD, MS, a member of the faculty and lead investigator at the Multi-Regional Clinical Trials at Brigham and Women’s Hospital and Harvard. To enhance the autonomy of research participants, the workgroup recommends that researchers:
- Re-evaluate current practices for obtaining informed consent.
- Consider the possibility of group harm in genomics studies on sensitive traits (such as autism and other neurodevelopmental differences).
- Engage in transparent conversation about the possible harms of genomics studies, many of which are hard to anticipate.
“As the field advances, new possibilities will emerge,” predicts Natri. For example, the use of polygenic scores in reproductive and prenatal settings only recently has become possible, and their use will continue to expand to different medical and social contexts. It is hard to anticipate how genetic information might be used to discriminate in the context of insurance plans. “Currently, there are no regulations to guide such uses,” notes Natri.
- Include and engage stakeholder communities in more meaningful ways.
“Achieving equity and inclusion in genomics research, ensuring research benefits, and protecting against harm must be a shared agenda of stakeholders, researchers, institutions, and funders alike,” emphasizes Natri.
Natri suggests that IRBs ask these questions when reviewing study protocols:
- Does the study align with stakeholder values?
- Is the study grounded on strong hypotheses about the well-being of individuals with autism?
- Does the informed consent process adequately acknowledge the possibility of harm to study participants and others sharing a similar genetic profile (for instance, the possibility that genetic information could be used in the future in prenatal testing or to discriminate)?
- Does the project involve individuals with autism as partners when setting research goals and when conducting and disseminating research?
The workgroup recommends that above all, autism genetic research should be conducted with the aim of improving the lives of people with autism. “This is perhaps the most significant recommendation for researchers coming out of the workgroup. It seems obvious but often gets obscured,” says Chapman.
Some researchers have developed guidance to involve individuals with autism as research team members and study participants.3 Researchers need to find the best approaches to work with the autistic community as they plan and conduct their studies. “Autistic individuals have a wide range of communication and accessibility needs that need to be accommodated to enable meaningful inclusion,” explains Natri.
The calls for autistic community representation in the prioritization, design, and conduct of research are not new. “But it is becoming more of an ethical standard rather than best practice,” says Chapman. This includes being open and transparent about the real benefits as well as potential harms of studies to both individuals and the community as a whole. “It also means taking steps to disseminate results of the research to the wider autism community, not just those who participated in the research,” says Chapman.
Another issue that researchers should be aware of is language used in informed consent forms and other study materials. Advocates of the neurodiversity movement emphasize acceptance and support of all humans, including all people with autism, wherever they fall on the “spectrum.” In the view of some advocates, terms such as “cure” and “treatment” convey that people with autism are not valued. Some advocates have similar reservations about labeling autism as a “disorder.” “Researchers are often motivated to do the hard work they do to improve the lives of others. Hurting the autistic community in this way is likely not their intention,” acknowledges Chapman.
Researchers should avoid using ableist language that can offend, says Chapman. For example, instead of using the phrase “risk of autism,” which has a negative connotation, researchers can use “likelihood” or “probability” of autism. Additionally, researchers should avoid describing individuals without autism as “healthy” or “normal” controls.
Because of social and/or medical factors, many individuals with autism may be characterized as a vulnerable study population. In light of this, Chapman says that to make sure that any proposed research is ethically justified, IRBs should pay special attention to consent processes, consider inclusion/exclusion criteria carefully, and make sure that the study has a favorable benefit/risk ratio for the autistic community. To be sure all of these issues are ethically addressed, underscores Chapman, “it would be ideal for researchers to consult with representatives of the autistic community during all phases of the project.”
- Natri HM, Chapman CR, Heraty S, et al. Ethical challenges in autism genomics: Recommendations for researchers. Eur J Med Genet 2023;66:104810.
- Hopkins Van Mil. The Spectrum 10K consultation. https://www.hopkinsvanmil.co.uk/spectrum-10k-the-consultation
- Nicolaidis C, Raymaker D, Kapp SK, et al. The AASPIRE practice-based guidelines for the inclusion of autistic adults in research as co-researchers and study participants. Autism 2019;23:2007-2019.
