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Finding Ways to Support Parents’ Decisions through Diagnosis of Genetic Disorders

By October 2, 2017No Comments

The neonatal intensive care unit (NICU) at BC Women’s Hospital + Health Centre cares for approximately 1,200 premature or ill infants annually. Many have underlying genetic disorders — the leading cause of infant mortality.

Genome-wide sequencing (GWS) is a powerful technology that can test for thousands of genetic diseases at one time and has the potential to save lives. Although GWS can dramatically increase the rate of diagnosis (as much as 57% of patients) many NICU parents decline testing when presented with this test option.

Building on RAPIDOMICS, a pilot study of rapid GWS to identify genetic disorders in newborns in the NICU at BC Women’s Hospital + Health Centre, a new project will investigate factors influencing decision making for parents considering GWS.

This collaboration involving researchers, healthcare workers and parent representatives will explore ways to maximize benefits to both families and the healthcare system by addressing ethical, social, and genetic counselling concerns regarding GWS in the NICU.

“We want to explore what influences NICU parents’ GWS choices to determine whether or not parents are receiving appropriate supportive counselling and adequate information in order to make informed, high quality decisions, consistent with their values.” said project lead Dr. Alison Elliott, Provincial Medical Genetics Program, BC Women’s Hospital + Health Centre, Investigator, BC Children’s Hospital and Clinical Associate Professor in the Department of Medical Genetics at University of British Columbia. “Our research will enable us to develop ways to support parents’ decision-making during this stressful period.” This project is co-led by Dr. Pascal Lavoie, neonatologist.

“Through projects like this, we can develop a better understanding of societal perceptions of genomics and the issues that affect people.” said Sally Greenwood, Vice President, Communications and Societal Engagement at Genome BC. “Dialogue and education are key to helping people understand what genomics can offer, so they can access the best information when they are faced with difficult decisions.”
This project, “Implementing Genomics in the Neonatal Period,” is valued at $50,000 and was funded through Genome BC’s Societal Issues Competition.