The article below reflects the personal opinions of the author(s) and does not reflect the views or opinions of the Perspectives editors or committee, or the National Society of Genetic Counselors (NSGC).
In a book released in February, “Where Biology Ends and Bias Begins: Lessons on Belonging from Our DNA,” Shoumita Dasgupta debunks misconceptions about biology’s link to social identities. She confronts many of the deep-rooted issues that have shaped our field for decades by using historical and current events, evidence-based conclusions and smooth transitions to make these complex scientific concepts relevant and accessible.
Dasgupta begins the book with a summary of her own positionality, modeling the importance of self-awareness and reflection. She acknowledges the evolving nature of language and encourages readers to use community-preferred terminology. The first section explores the origins of biases which are fueled by genetic essentialism — the flawed notion that DNA alone explains differences observed between groups in traits from character, behavior and abilities to health outcomes. In the next section, Dasgupta analyzes biology’s impact on several marginalized groups. A chapter on population genetics explores variation within and between groups, particularly with respect to race, ethnicity and ancestry, highlighting how citizen scientists have misused science to justify discrimination. Through the lens of sex and gender, she addresses sports, intersex medical interventions and prenatal cfDNA as a "gender test." Related to pregnancy, bodily autonomy and reproductive justice, she covers inclusive terminology and family-building options for same-sex parents, transgender individuals and patients experiencing infertility. She also addresses the evolution of carrier screening, from ancestry-based to ancestry-agnostic, and the shift from maternal serum screening with race-based adjustments to universal prenatal cfDNA, all while considering social safety nets, insurance coverage and abortion restrictions. This section wraps up with an examination of disability models and etiologies, accessibility barriers and how declining incidence rates can hinder accommodations, using Down syndrome, deafness and dwarfism as examples. For each of these groups, she highlights the power of patient-centered conversations and representation.
The book’s final section highlights knowledge gaps, misuse of findings and health disparities related to disease prediction and treatment options. Dasgupta critiques genome-wide association studies (GWAS) and polygenic risk scores (PRS) for overlooking environmental, behavioral, structural and systemic factors. She warns of privacy risks in consumer genetics and law enforcement use of DNA data. She also pushes back against eugenics being a thing of the past by addressing modern-day lack of workforce diversity, community engagement and representation in research, as well as examples of race-based medicine and disproportionate investment of research funding for conditions that largely impact people of color. Lastly, she encourages readers to think about the emerging issues of building a pangenome reference sequence, PRS in embryo screening, genomic editing and gene therapy, and the financial and ethical costs associated with these technologies.
The book concludes with a call to action to set ground rules for shared values, acknowledge the work that is yet to be done and overcome the fear of getting it wrong. She provides activities to assist educators, health care providers, scientists and parents to be socially responsible when using scientific evidence. This timely book arrives amid efforts to dismantle diversity, equity and inclusion initiatives and limit public health data and resources. Yet, calling it a “DEI book” is reductive — it simply champions excellence in all sectors of genetics, including research, testing, counseling and education. Drawing from my years at Boston Medical Center, where the mission is “exceptional care without exception,” I see this book as a vital guide to achieving that standard. The book is now available for purchase.
Photo by Tom Hermans on Unsplash
MaryAnn Campion, EdD, MS, CGC received a master's in genetic counseling from the University of South Carolina and a doctorate in educational leadership and policy from Boston University. She is a professor and codirector of the master’s program in human genetics and genetic counseling at Stanford University. She has worked with Shoumita Dasgupta at a previous place of employment, and they have coauthored a published paper.