New genomic screening and diagnostic technologies are rapidly emerging in prenatal, newborn and paediatric medicine. In partnership with laboratory, clinician and evaluation scientists, we use a range of health service research methodologies to study the impact of these technologies on families, health care providers and the health care system. Given the rate of expansion and complexity of testing, our work also aims to build sustainable and equitable models of care that optimize access and ensure appropriate use for a growing number of eligible families.

  • To date, genetic test evaluation has focused on measures of laboratory performance.
  • Determining the full value of genomic technologies for families, health care systems, and society requires patient-oriented research, novel measurement tools and implementation science.
  • We are conducting:
    • qualitative research with parents to explore the ethics and acceptability of these technologies
    • observational studies to capture care and cost pathways triggered by genomic testing
    • measurement science to develop a novel index of clinical utility for use in comparative effectiveness research
    • implementation science to inform the development of sustainable and equitable models of care
  • Evidence from these studies will inform policymakers’ investment and reimbursement decisions.
Paediatric Genomics Publications
  • Newborn bloodspot screening identifies infants with rare and serious disorders.
  • This enables timely access to treatment to reduce disease morbidity and mortality.
  • The use of next generation sequencing technologies will improve test specificity but also increase the range of conditions identified and the rate of clinically uncertain and carrier variants.
  • We are conducting qualitative and quantitative studies to determine the impact of this shift in technology on patients, providers and the health care system
  • Findings from this work will inform program policy and practice.
Newborn Screening Publications
  • National guidelines recommend that all pregnant women receive the offer of screening for chromosome abnormalities and open neural tube defects.
  • The emergence of market-driven non-invasive prenatal testing and next generation sequencing presents both opportunities and challenges to the prenatal screening system of care.
  • We are conducting survey research with prenatal care providers to determine educational needs and to guide our development of up to date educational tools for patients and providers.
  • Our work in this area will inform program policy and practice to keep pace with rapid shifts in prenatal screening targets and technologies.
Prenatal Screening Publications

Media & Policy Documents

  • Learn about Dr. Hayeems’ media and policy work.
Media & Policy Documents
norm saunders
centre for genetic medicine
sickkids foundation