Cost Effectiveness of Genomic Newborn Screening for 200 treatable genetic conditions

Dr Denis Bauer


Business Unit: Health and Biosecurity

Research Program: eHealth

Dr Glenn Bennett


Associate Professor Gian Luca Di Tanna

UNSW Sydney

Faculty of Medicine

The George Institute for Global Health

Project Description

Genomics can identify multiple treatable genetic conditions in a single assay and is thought by many to be the future of preventive health screening. Results of recent genomic newborn screening projects have been disappointing, with whole genome and whole exome sequencing giving ethical challenging and medical uncertain results making these types of genomics tests unfeasible for population health programs. Targeted genomic sequencing can overcome these drawbacks and identify specific, treatable genetic conditions; without identifying ethical challenging conditions or creating medical uncertainties. This new technology could revolutionise preventive public health. Genepath have developed the world’s first accredited targeted genomic screening platform for newborn screening and together with the George Institute for Global Health, CSIRO, and Pathology Queensland will undertake a world’s first project to evaluate the cost effectiveness and feasibility of targeted genomic newborn screening. Currently, the screening of 7500 children from the Queensland newborn screening program aims to identify the carrier frequency rates for over a hundred autosomal recessive treatable genetic conditions to allow birth incidence, which is currently unknown for most of the conditions, to be estimated. The project will also undertake a health economic analysis to evaluate the cost effectiveness of screening for multiple rare genetic conditions in newborns. 

This iPhD project will involve a literature review on the health economic evaluations of newborn screening aiming to support the development of a health economic model to evaluate the cost effectiveness of targeted genomic newborn screening for over 100 treatable, genetic conditions. We plan to conduct systematic reviews and potential meta analyses of the most important parameters (utilities/quality adjusted life years, costs, etc.) that will inform the actual cost effectiveness model. In fact, while there will be extensive use of specific Genepath evidence (coming from both experimental and observational studies) simulations will be needed to consider the life-long time horizon in order appropriately capture costs and benefits of the various strategies that will be compared. Genepath will undertake the laboratory work, testing 7500 newborns with the assay, and data generated will be used—along with the best available evidence as described above—in the health economic modelling by the iPhD student.

Ideal candidate

The UNSW-CSIRO iPhD program seeks Australian/New Zealand Citizens and Australian Permanent residents with the skills to become future applied research and innovation leaders and a strong motivation to work with and/or in industry. To be considered, applicants must hold a four-year Bachelor's degree with first-class Honours, or an equivalent qualification. 

For this project, the ideal candidate will have a strong quantitative profile, preferably with an undergraduate degree in (Medical) Statistics or Health Economics, and will have experience in statistical analysis within a medical research environment. In additon to strong problem solving, analytical skills, and strategic thinking, we are also looking for a researcher with excellent interpersonal skills and the ability to work well and flexibly. As the  project will involve a mixture of systematic reviews and meta analyses, data analysis and economic evaluation (including simulations) competencies,  a proficiency in the use of statistical software (preferably R and/or SAS/Stata), and decision modelling packages (R and/or TreeAge) is needed. The successful candidate will mainly be based in the Statistics Division at The George Institute.

Project Location

The candidate will be based at The George Institute for Global Health in Newtown. Genepath's offices are located in Chatswood, and the partnering CSIRO supervisor is located at North Ryde.

Internship Location

Chatswood, NSW

Closing date: