Considering the appropriateness of adding a certain new condition to newborn bloodspot screening in Australia

Location: Perth, WA

Duration: 3-5 months

Project Background

NBS is a population health program that screens newborn babies for around 25 rare yet life-threatening health conditions. NBS programs in Australia are highly successful, screening over 99% of babies born around the country each year.
Early detection of a condition that leads to early adoption of treatment is critical for providing affected babies, and their families, with the best possible outcomes. In the 50 years since the establishment of the NBS programs in Australia, stakeholders have largely advocated for the addition of conditions to the NBS screening panels on an ad-hoc basis.
Technologies related to the detection and management of genetic conditions are rapidly advancing and as such there was a need to create a national policy framework to support the continued success of NBS into the future.
Subsequently, the NBS National Policy Framework was developed to enhance consistency, cost effectiveness, transparency and accountability in NBS. A key element of the framework is a nationally agreed decision-making process by which all conditions nominated for addition to, or removal from, NBS programs must be assessed.

Research to be Conducted

The decision-making process outlines that any person may nominate a condition for addition to or removal from NBS programs in Australia. The nominated condition is first assessed through an initial review by the national NBS Program Management Committee to decide whether a detailed review is required to more thoroughly assess the appropriateness of screening for the condition as part of NBS.

The condition of interest for this project has been recommended by the Standing Committee on Screening (SCoS) as appropriate for a detailed review. The WA Department of Health, through the Office of Population Health Genomics, has agreed to lead the detailed review process for this condition in collaboration with a group of relevant experts.

The detailed review will be conducted against the agreed decision-making criteria of the NBS National Policy Framework.

A key piece of research underpinning the detailed review will be a thorough review of the scientific literature on the appropriateness of screening for this particular condition. This written review is expected to include evidence on the benefits and harms of screening for this condition, in relation to:

  • The condition (e.g. usual age of onset and severity),
  • The screening test,
  • The available (or emerging) interventions,
  • Cost-effectiveness, and
  • Outcomes of screening from other countries if available.

Skills Required

If you’re a PhD student and meet some or all the below we want to hear from you. We strongly encourage women, indigenous and disadvantaged candidates to apply:

  • Ability to read, understand and assess the quality of published scientific literature relating to the condition and also screening for the condition in the newborn period
  • Ability to synthesise information into a comprehensive report against the decision-making criteria
  • Ability to engage well with stakeholders verbally and in writing, and
  • Ability to incorporate constructive feedback into their report during a revision phase.
  • Understanding or knowledge of any of the following areas:
    • Rare or genetic diseases
    • Genetic / biochemical assay methods
    • Bioethics
    • Epidemiology
    • Health economics
    • Health technology assessment, or
    • Population-based screening programs.

Expected Outcomes

The participant will be required to complete a thorough and detailed scientific literature review of relevant literature from around the world on the appropriateness of newborn screening for the condition in question. The findings will be prepared into a formal report by the participant, addressing the relevant components of the NBS National Policy Framework. The participant will also be expected to produce revised iterations of the report, based on feedback from various stakeholders.

The participant will receive support from the team at Office of Population Health Genomics during their internship. They will also receive contribution from national experts in NBS, with whom they will be facilitated to interact with.

Additional Details

The intern will receive $3,000 per month of the internship, usually in the form of stipend payments.

It is expected that the intern will primarily undertake this research project during regular business hours, spending at least 80% of their time on-site with the industry partner.  The intern will be expected to maintain contact with their academic mentor throughout the internship either through face-to-face or phone meetings as appropriate.

The intern and their academic mentor will have the opportunity to negotiate the project’s scope, milestones and timeline during the project planning stage.

Applications Close

27 November 2019

Reference

APR – 1288