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Finding ways to support parents’ decisions through diagnosis of genetic disorders

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Vancouver, BC — 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.

About Genome BC’s Societal Issues Competition
Genome BC created the Societal Issues Competition as a way to recognize the need for stand-alone research projects that identify and study the societal issues that emerge from genomics-based innovations. Applied social sciences and humanities research, encompassing the diverse areas of study relevant to genomics research, is a necessary aspect of the genome sciences. This may include, for example, researching broader themes of societal importance such as genetic discrimination and public perspectives of genomics application by sector, developing effective practices and policies for uptake of genomic-based applications, identifying when uptake would not be appropriate or examining cross-cutting themes related to genomics that may be important to society.

About Genome British Columbia:
Genome British Columbia leads genomics innovation on Canada’s West Coast and facilitates the integration of genomics into society. A recognized catalyst for government and industry, Genome BC invests in research, entrepreneurship and commercialization in life sciences to address challenges in key sectors such as health, forestry, fisheries and aquaculture, agrifood, energy, mining and environment. Genome BC partners with many national and international public and private funding organizations to drive BC’s bioeconomy.


BC Children's Hospital Research Institute; BC Women's Hospital + Health Centre; babies; NICU; premature; genetic
Research; Children's Health
SOURCE: Finding ways to support parents’ decisions through diagnosis of genetic disorders ( )
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