Economics of Genomics and Precision Medicine Unit

What a fantastic achievement! Congratulations to @zornitza.bsky.social, @iliasgoranitis.bsky.social and team on the publication of the BabyScreen+ genomic newborn screening study, out today in Nature Medicine.

Mackenzie Bourke presented “Incorporating individual-level preferences into cost-effectiveness analysis of population genomic risk screening: a discrete event simulation.”

Lizzy Liu presented “Risk in preferences for breast cancer genomic risk screening and subsequent prevention protocols.”

Julia Steinberg presented “Community preferences for population-wide genomic risk stratification (using polygenic risk scores) and risk-tailored cancer screening.”

Last week, Lizzy Liu and Mackenzie Bourke presented in an organised session at the AHES Conference in Canberra on the value of population-wide genomic risk assessment for cancer screening, alongside A/Prof Julia Steinberg from the Daffodil Centre.

(1/4) INVITATION: Applying #MendelianRandomization in #HealthEconomics - Bridging #Genomics & #CostEffectiveness

🗓️ Tues 16 Sept
⏰8-9 AM UTC / 9-10 AM BST / 6-7 PM AEST
📍Online, download the calendar invite here: healtheconomics.org/event/applyi...

(1/4) INVITATION: Webinar exploring distributional cost-effectiveness analysis (#DCEA) for advancing #healthequity

🗓️ Date & time: 6-7pm Wed 8 Oct EDT / 10-11pm Wed 8 Oct UTC / 9-10am Thurs 9 Oct AEDT
📍 Online, download the calendar invitation here: healtheconomics.org/event/advanc...

Psychometric comparison of CHU9D and PedsQL 4.0 proxy version administered to parents of children with congenital colorectal conditions in Australia - The European Journal of Health Economics Objective To assess the psychometric performance of the Child Health Utility (CHU9D) proxy version compared with the Pediatric Quality of Life Inventory (PedsQL) in Australian children aged 0–7 years ...

📢 New publication in The European Journal of Health Economics!

The paper assesses the psychometric performance CHU9D proxy version compared with the PedsQL in Australian children aged 0–7 years with congenital colorectal conditions.

Read our findings: link.springer.com/article/10.1...

Recently our team conducted two #DCEs as part of the BabyScreen+ program to elicit the Australian public’s preferences, values, and priorities for genomic newborn screening (gNBS) and its implementation.

Read more here: sciencedirect.com/science/arti...

Excited to welcome Thuy Dung (“Dzung”) Nguyen as our new Research Assistant in the Economics of Genomics and Precision Medicine Unit! Dzung will be contributing to a project evaluating the cost-effectiveness of genomic testing for children/adults with suspected kidney disease.

📄 pubmed.ncbi.nlm.nih.gov/38459833/
📄 pubmed.ncbi.nlm.nih.gov/39725011/
humgenomics.biomedcentral.com/articles/10....

📄 pubmed.ncbi.nlm.nih.gov/35181209/
📄 nature.com/articles/s41...
📄 pubmed.ncbi.nlm.nih.gov/34099885/
📄 pubmed.ncbi.nlm.nih.gov/37489581/
📄 pubmed.ncbi.nlm.nih.gov/40172779/

Links to the papers referenced in the presentation are included below.
📄 pubmed.ncbi.nlm.nih.gov/32266555/
📄 pubmed.ncbi.nlm.nih.gov/39522058/
📄 pubmed.ncbi.nlm.nih.gov/32024983/
📄 pubmed.ncbi.nlm.nih.gov/32371919/
📄 nature.com/articles/s41...
📄 pubmed.ncbi.nlm.nih.gov/32839572/

YouTube video by PAHO TV Genomics in public health: Technology assessment

A few weeks ago, @iliasgoranitis.bsky.social
presented at the Pan American Health Organisation webinar series. The webinar explored the challenges and opportunities of incorporating genomic innovations into health systems. youtube.com/watch?v=cPQr...

Read more here: link.springer.com/article/10.1...

This systematic review highlights where genomic medicine is likely cost-effective across the cancer care continuum, from:
🔹 Prevention & early detection
🔹 Diagnosis, staging & planning
🔹 Treatment
🔹 Managing refractory/relapsed disease
🔹 Palliative & end-of-life care

🔬 Excited to share our latest work: "The Cost Effectiveness of Genomic Medicine in Cancer Control", in collaboration with Cancer Australia and @who.int.

Preferences like testing uptake, treatment adherence, and trust in the healthcare system are key to evaluating genomic medicine. Ignoring them can bias cost-effectiveness and policy relevance.

🔎 Read the paper our team supported: rdcu.be/eaJBy

Utilisation of subsidised genetic and genomic testing in a publicly funded healthcare system 2014–2023 - European Journal of Human Genetics European Journal of Human Genetics - Utilisation of subsidised genetic and genomic testing in a publicly funded healthcare system 2014–2023

How has publicly funded genetic and genomic tests been used in Australia? Read our recent study on test utilisation and MBS funding here: www.nature.com/articles/s41...

Using #MCDA, we elicited expert preference values for the diagnostic, clinical, family, economic, and societal components of genomic utility. This enabled the development of a scoring system ranging from 0% to 100%. The utility indicators used in the scale are shown in the table.

Our team recently developed the Genomic Utility Valuation scale (#GUVscale), which systematically collects and weights key genomic outcomes to inform research, healthcare decision-making, and reimbursement priorities.

Our team is proud to have led the health economics component of the evidence review that informed this Framework.

Read our evidence review: canceraustralia.gov.au/sites/defaul...

Cancer Australia recently launched the National Framework for Genomics in Cancer Control, a major step toward integrating genomics into routine cancer care for all Australians.

Read the Framework: canceraustralia.gov.au/key-initiati...

Proteomics costs AU$897 (USD $607) per patient, outperforming traditional methods like respiratory chain enzymology in detecting mitochondrial and other rare diseases.

Our recent micro-costing paper found that proteomics offers a more cost-effective solution with broader applications compared to respiratory chain enzymology for mitochondrial disorders in Australia. Read more of our findings here: ojrd.biomedcentral.com/articles/10....

Exciting research in #genomic_newborn_screening (gNBS)! Ilias and Riccarda contributed to this paper exploring public perspectives on which conditions should be included in #gNBS. Read more here: link.springer.com/article/10.1...

Determining priority indicators of utility for genomic testing in rare disease: A Delphi study - PubMed This study obtained expert consensus on different utility indicators that are considered a priority in determining the value of genomic testing in rare disease in Australia. Indicators may inform a st...

Our team, in collaboration with @ausgenomics.bsky.social, identified priority indicators for assessing the value of #genomic_testing in #rare_diseases, an important step toward standardising evidence generation. Read more here: pubmed.ncbi.nlm.nih.gov/38459833/

Eliciting parental preferences and values for the return of additional findings from genomic sequencing npj Genomic Medicine - Eliciting parental preferences and values for the return of additional findings from genomic sequencing

An interesting paper from our team on #additional_findings in #genomic_sequencing. We report results from a #DCE exploring parental preferences for the process of returning additional findings and the value placed on this analysis for children with rare conditions. Read more here: rdcu.be/dyDkq