Championing Ethical and Inclusive Genomics Research: The Story of Daphne Martschenko

Daphne Martschenko discovered her career inspiration while working at Camp Phoenix, a summer camp for low-income youth in the San Francisco Bay Area. Her experiences there fueled her passion for promoting equitable education for all, regardless of socioeconomic background or race. Today, as a bioethicist at Stanford University, Martschenko focuses on researching how social and behavioral genomics affect society, inequity, injustice, and how we respond to these issues.

Despite the breakthrough accessibility to genetic information, Martschenko emphasizes the dangers of bias and potential misinterpretation that can promote unscientific and harmful ideas. Historical examples of using genetics to justify racial discrimination, xenophobic immigration policies, and forced sterilization only emphasize the importance of her work.

Martschenko's research is centered around conducting genomics research in a way that is social and ethical and includes community engagement while being communicated clearly. She studies the downstream effects of research through identifying the potential of social harms and developing strategies to prevent them.

Martschenko's work is heavily influenced by her biracial identity and life experiences. Her Ph.D. work included analyzing how genomics research on cognitive abilities and educational attainment affected the beliefs of primary and secondary school teachers. The danger of stereotyping students based on their ethnicity and perceived abilities had to be brought to light and corrected. Recently, Martschenko has moved on to creating resources to better communicate the context and limitations of genomics research, such as a repository on Frequently Asked Questions.

Daphne Martschenko's efforts to communicate the findings of social and behavioral genomics in a responsible way have culminated in her helped create a repository of frequently asked questions. This resource aims to prevent the misinterpretation and misapplication of studies. One example of a FAQ included is on the study, "Childhood Trauma, life-time self-harm, and suicidal behavior and ideation are associated with polygenic scores for autism," which appeared in Molecular Psychiatry in 2019.

The study examined whether genetic variants associated with autism are also linked to childhood trauma. It was found that individuals with a greater number of autism-associated genetic variants were more likely to report childhood trauma, self-harm, and suicidal ideation. Social and environmental factors played a role in their relationship with autism-associated genetic variants. Lastly, it is vital to identify sources of trauma for autistic individuals to reduce their occurrence and impact. However, the associations found had a small impact on all outcomes.

“The idea of getting out in front of the controversy and explaining things in a clearer way so that they’re not just reacting to misuses of the science, but they’re trying to get out in front of it — I think that’s the key attribute of her work,” says bioethicist Steven Joffe of the University of Pennsylvania Perelman School of Medicine.

One strategy Martschenko employs is called adversarial collaboration, a term originally coined by the Nobel Prize-winning economist and behavioral psychologist Daniel Kahneman. This approach invites people with opposing viewpoints together to collaborate. They celebrate their disagreements and understand their roots.

To that end, Martschenko is coauthoring a book with Sam Trejo, a quantitative social scientist at Princeton University who uses genomic data to study how social and biological factors shape human development. Martschenko and Trejo have different perspectives on how much genes matter and how to address social inequalities. Their book will unpack the social, ethical and policy issues that have come with the DNA revolution.

Another theme of Martschenko’s work is community engagement. She seeks ways for study participants to be equal partners with researchers. Getting people together, particularly those who haven’t been historically included in conversations around how to study genetics and behavior, helps makes science more inclusive and equitable, Martschenko says. “We need more marginalized representation in research,” she adds, but building trust and access is key.

It’s not enough to have study participants just give an OK for you to use their data, says Barbara Koenig, a medical anthropologist who works in bioethics at the University of California, San Francisco. “My sense is that we have to move away from consent,” she says; study participants need to be collaborators.

Recently, Martschenko, another facilitator and eight community partners came together to design a framework for introducing polygenic scores — a measure of a person’s risk for a disease based on genetic factors — into clinical care. When and how to use such scores in providing health care has been a contentious issue, since they can prove inaccurate and be misinterpreted. Martschenko hopes the work provides a framework for others who want to engage local communities in designing clinical programs.

Facilitating conversations on controversial and ethically charged topics, especially as a young researcher, is not easy work. To destress, Martschenko does a lot of yoga. “It is my safe place to go,” she says. She is a champion rower and uses the lessons she has learned from it to get people working in sync regardless of the conditions.

She says her background has prepared her well for her current work. “I feel like I found my space,” she says. “I found the place where I’m destined, where I’m meant to do the work that I’m doing.”

Daphne Martschenko is one of this year’s SN 10: Scientists to Watch, our list of 10 early and mid-career scientists who are making extraordinary contributions to their field. We’ll be rolling out the full list throughout 2023.

Want to nominate someone for the SN 10? Send their name, affiliation and a few sentences about them and their work to [email protected].

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