WASHINGTON, DC—Leaders from industry, government, patient advocacy groups, and academia weighed in on ethical dilemmas associated with genetic modification, equity in access, genetic testing, and more during a session at the National Organization for Rare Disorders’ Rare Disease and Orphan Products Breakthrough Summit.

The session, facilitated by Alison Bateman-House, PhD, MPH, an assistant professor of medical ethics at NYU Grossman School of Medicine in New York, explored barriers to access, collaboration, balancing risks and benefits, and patient education.

From a clinical research perspective, there are often burdens placed on patients and families who are in clinical trials. Reducing those burdens, using local assessment, and performing remote assessments could ensure that trials yield data that can benefit the entire population with a disease, noted Detra Regier, MD, PhD, medical director of the Children’s National Rare Disease Institute.

Dealing with matters of informed consent and quality of life often enters a grey zone, said Lynn Bush, PhD, MS, MA, a bioethicist and developmental scientist at Boston Children’s Hospital. These are topics that patients, families, and clinical trialists address with slight discomfort and warrant a sense of balance, she noted.

There are a number of barriers that contribute to whether individuals engage in the rare disease community, like language barriers, inability to participate in clinical trials, and not being able to attend conferences like NORD, noted Dr. Bateman-House.

It’s important that privilege does not restrict the new era of rare disease research, and that is why efforts like allocating budget to diversity, equity, and inclusion and developing unique educational methods, like children’s books, are important, she said.

More from NORD 2022: Panel: Diverse Study Populations Needed in Rare Disease Research

Katherine Beaverson, MS, the executive director of the head of patient advocacy and external engagement for Pfizer, noted that privilege has to be thought of in a different way. New technologies and new methods call for new language and perspective surrounding privilege, she explained.

Dr. Regier shared her experience conducting qualitative research and finding that the more information people had on gene therapy and research, the less likely they were to have hope in its ability to work. She began to consider risk and benefit and how being a part of a clinical trial can give participants a sense of legacy.

“When we think about it from that perspective, I think it changes the meaning behind why we do trials and the meaning behind a trial,” Dr. Regier continued.

Elizabeth Hart, MD, a branch chief for the US Food and Drug Administration pointed out that there are a lot of opinions and perspectives concerning informed consent.

“Everyone needs to have that understanding so that they—or, where appropriate, legal guardians—can make those decisions,” Dr. Hart said. “Another responsibility that I see from the regulatory perspective is making sure that we are doing our best to minimize risk.”

Balancing risk and benefits is key in doing effective research, Dr. Hart noted. It is about trying to balance risk and benefits and making sure the trial is informative, while not putting anyone at unreasonable risk, and ensuring everyone understands the potential risks and the knowledge that may be gained from a trial, so they can make their own choices, she said.

Dr. Bush noted collaboration is important in ethical research. “Collaboration isn’t just being at the table together; it is actually sharing the information, because a lot isn’t published. But the best way to decrease any adverse events and increase or maximize benefits is to share good information. There still needs to be sharing across conditions, and across scientific groups and clinical domains,” Dr. Bush said.

Dr. Hart pointed out that collaboration can also be useful in meeting the needs of individual communities by giving them information through trusted sources. “I know industry has a wonderful history of collaborating with those organizations to create resources that they need and tailor it to what the community needs to understand or wants to understand,” she concluded.


Ethical issues as the rare community moves into a new era. Presented at: National Organization for Rare Disorders’ Rare Disease and Orphan Products Breakthrough Summit; October 17, 2022; Washington, DC.