Benefits and Burdens of Newborn Screening: Public Understanding and Decision-making

Authors and Disclosures

Stuart G Nicholls*^,1, Brenda J Wilson¹, Holly Etchegary², Jamie C Brehaut^{1 ,3}, Beth K Potter¹, Robin Hayeems^{4 ,5}, Pranesh Chakraborty⁶, Jennifer Milburn⁷, Daryl Pullman⁸, Lesley Turner⁹ & June C Carroll¹⁰

¹Department of Epidemiology & Community Medicine, University of Ottawa, Ottawa, Ontario, Canada
²Clinical Epidemiology, Memorial University, St John's, Newfoundland and Labrador, Canada
³Centre for Practice Changing Research, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada
⁴Hospital for Sick Children Research Institute, Peter Gilgan Centre for Research and Learning, Toronto, Ontario, Canada
⁵Institute of Health Policy Management & Evaluation, University of Toronto, Canada
⁶Newborn Screening Ontario, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Ontario, Canada
⁷Better Outcomes Registry & Network (BORN), Children's Hospital of Eastern Ontario (CHEO), Ottawa, Ontario, Canada
⁸Faculty of Medicine, Memorial University, St Johns, Newfoundland & Labrador, Canada
⁹Eastern Health, St John's, Newfoundland & Labrador, Canada
¹⁰Department of Family & Community Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

*Author for correspondence
Tel: +1 613 562 5800 ext. 8288 Fax: +1 613 562 5465 snicholl@uottawa.ca

Sidebar

Executive Summary

Background

• Expanded screening has led to discussion of expanded notions of benefit and burdens.

Benefits & burdens of expanded newborn screening

• Benefits include early intervention with resultant reduction in morbidity and mortality, knowledge gained from the identification of disease, and avoiding diagnostic delays.

• Burdens include potential for anxiety, a lack of confirmatory diagnosis, overdiagnosis and overtreatment.

Public attitudes & understanding of the benefits & burdens of newborn screening

• Public attitudes largely reflect professional and academic debates, with an emphasis on support for programs where the primary benefit is intervention for the child that will improve health outcomes.

Benefits, burdens & consent processes

• Newborn screening programs exhibit near universal uptake, irrespective of consent approach.

Parental knowledge & understanding: implications for consent approaches

• There is a lack of evidence regarding best-practice for the provision of information prior to the conduct of newborn screening.

Screening uptake & perceptions of choice

• Newborn screening is often experienced as routine, even in jurisdictions operating under an informed consent mandate.

• Parents wish to be informed and consented with respect to secondary use of bloodspots for research.

Benefits, burdens & individual decision-making

• More research is needed to better understand parental decision-making.

Where are we, what do we still need to learn & why?

• Technological advances, such as whole-genome sequencing, will generate vastly increased amounts of data, and could compound these issues.