May 2025 ELSI Journal Club Resources

Session’s Featured Paper: Parents’ perceptions of the utility of genetic testing in the NICU

Date and time: Friday, May 30, 2025 | 12pm ET US / 9am PT US

Featured Author: Katharine Press (KP) Callahan, MD, MSME

Discussant: Jessica Ezzell Hunter, PhD

Moderator: Josephine Johnston, LLB(hons), MBHL

Staff: Faryn Fairweather, David Lamb, & Grace Morris

To propose a short response to today’s featured manuscript for publication in Genetics in Medicine, email 1-3 sentences that describe your perspective to Deanne Dolan [email protected] by June 16, 2025. These will be reviewed by the ELSI section editors at GiM and one will be recommended to submit a Letter to the Editor. Acceptance and publication are contingent upon peer review, editorial review, and revisions.

Biographies

Featured Author: Katharine Press Callahan, MD, MSME, is a neonatologist and ethicist at Children’s Hospital of Philadelphia. Her research aims to improve the ways in which we manage genetic information, and other complex medical information, to maximize benefit for children and their families.
Dr. Callahan’s research focuses on how neonatologists and parents use genetic information to make medical decisions and conceptualize patients’ futures. This focus emerges at the intersection of her work as a neonatologist and ethicist and her longstanding interest in the integration of genetic information into complex medical practice. In residency, she began to explore the limitations of genetic prognostication through the lens of Down syndrome. Working as a neonatologist, she has witnessed both the benefits and potential confusion and harms that can result from genetic testing in this context. She has leveraged these experiences to research agenda aimed at maximizing benefit and minimizing harm of complex genetic information in the neonatal intensive care unit. Dr. Callahan is also an Assistant Professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania.

Link to Katharine Press Callahan’s biography: https://www.research.chop.edu/people/katharine-press-callahan

Discussant: Jessica Ezzell Hunter, PhD, is a genetic epidemiologist whose work focuses on the impact of genomic variation on health outcomes. She has led and collaborated on numerous studies and consortiums to increase the identification of and improve health outcomes in individuals with hereditary cancer syndromes, genetic intellectual and developmental disability syndromes, and other complex genetic conditions. She has extensive experience in characterizing health outcomes with complex etiology, including gene and environment interactions, and elucidating the molecular etiology of health outcomes in individuals with genetic conditions involving genomic and epigenomic factors. She also works to ensure access to genetic services, including increased access to genetic risk assessment and genetic testing.

Dr. Hunter is active with the National Institutes of Health-funded Clinical Genome Resource (ClinGen) as co-chair of its Actionability Working Group, which generates evidence-based assessments of clinical actionability associated with genome variation. She leads and collaborates on numerous studies to improve the identification of individuals at increased genetic risk for cancer to allow the implementation of appropriate health care interventions and services. Dr. Hunter has more than 15 years of experience in characterizing and improving health outcomes associated with the fragile X premutation allele, including maternal stress among mothers of children with fragile X syndrome. She also has extensive experience in characterizing risk factors related to chromosome 21 nondisjunction and clinical outcomes in children and adults with Down syndrome.

Link to Jessica Hunter’s biography: https://www.rti.org/expert/jessica-ezzell-hunter

Stacey Pereira, PhD is an associate professor in the Center for Medical Ethics and Health Policy. Her research focuses on social and ethical issues in genomics, with particular emphasis on the impact of integrating genomics into the clinical care of different populations, including newborns, healthy adults, and military personnel. She also has several projects exploring the use of polygenic risk scores across a variety of contexts, including clinical care of cardiology patients, pre-implantation embryo screening, and child and adolescent psychiatry. Additional research interests include issues related to banking, sharing, and research use of human biospecimens.

Link to Stacy Periera’s biography: https://www.bcm.edu/people-search/stacey-pereira-28464

Resources Shared by the Panel

Please find a list of resources provided by our discussant on ELSIhub here: 

CERA Resources

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