Table 2.

Key aspects relied on by MSAC to make judgements of value

Appl. no	Short title	HTA approach	Type of economic analysis relied on by MSAC	Key measure(s) of cost-effectiveness relied on by MSAC	MSAC assessment of net costs to government	MSAC’s judgement of value (supported/not supported for funding)
1411	Breast and ovarian cancer risk	CUC Proforma—pilot	CUA	• $18,283 per QALY • $32,000 per breast or ovarian cancer event avoided	• $5.05 M to $7.01 M per year • Assumes 10% of breast/ovarian cancer cases will be eligible for testing	• Clinical utility: Change in cancer risk management for index case Change in cancer risk management for relatives Supported
1449	Alport Syndrome	CUC Proforma	none (CUA in assessment report deemed unreliable)	• n/a	• $2.45 M to $1.37 M per year1 • Well characterised phenotype with a low risk of use outside the intended population	• Clinical utility Avoidance of renal biopsy Prognostic information • Reproductive confidence Supported
1476	Childhood syndromes	CUC Proforma	CUA	• $7254 per QALY	• $10.27 M to $9.52 M per year2 • Includes initial WEA, re-analysis, and cascade testing but excludes downstream savings as difficult to quantify	• Clinical utility: Avoidance of diagnostic testing for index case Avoidance of unnecessary treatments • Reproductive confidence Supported
1492	NIPT	Investigative services	CEA	• $510,769 per additional trisomy detected	• $100 M per year3 • Assumes NIPT would be used in addition to biochemical testing and antenatal ultrasound in ~ 300,000 pregnancies per year	• Reproductive confidence Not supported
1504	Colorectal and endometrial cancer risk	CUC Proforma	CEA	• $9762 per additional mutation detected (for Lynch syndrome index case) • $5691 per mutation identified (for Familial Polyposis index case)	• $3.27 M to $3.48 M per year3 • Does not include expected mix of downstream costs and savings associated with cancer surveillance, risk-reducing surgeries, or cancer treatment	• Clinical utility: Change in cancer risk management for index case Change in cancer risk management for relatives Supported
1533	Foetal structural abnormalities	Investigative services	CEA	• $5258 per pathogenic CNV detected • Cost per complex birth avoided – testing dominates	• $1.71 M to $1.74 M per year3 • Use outside intended population is expected to be low as amniocentesis and CVS are unlikely to be used inappropriately	• Clinical utility: Guiding management of ongoing pregnancy Supported
1534	Familial hyper-cholesterolaemia	CUC Proforma	CUA	• $24,907 per QALY (for testing affected individuals plus first- and second-degree relatives)	• $0.54 M to $0.62 M per year3 • Assumes uptake is based on current rates of under-diagnosis of Familial Hypercholesterolaemia	• Clinical utility: Change in risk management for biological relatives Access to PBS-funded pharmacotherapy for index cases Supported
1554	Ovarian cancer BRCA1/2 for olaparib	Codependent technologies	CUA	• Cost per QALY4	• Net cost to MBS4 • For extending existing BRCA1/2 germline testing to allow somatic BRCA1/2 testing to determine patient access to first-line olaparib	• Clinical utility: Access to PBS-funded pharmacotherapy for index cases Supported
1573	Carrier testing for CF, SMA and FXS	Investigative services	Revised CEA	• Cost per carrier couple detected – Carrier testing dominates	• $34.90 M to $35.23 M per year3 • Plus possible savings to the PBS of $2.67 M to $17.54 M per year	• Reproductive confidence: For clinically warranted testing of women early in pregnancy or intending to become pregnant, and their reproductive partners Supported
1598	Cardiac arrhythmias and channelopathies	CUC Proforma	CEA	• $4721 per positive genotype5 for affected individuals • Testing dominates for affected individuals plus first-degree relatives, and for affected individuals plus first-and second-degree relatives	• $0.56 M to $1.25 M per year3 • Long-term impacts of services associated with changed prevention and surveillance are uncertain	• Clinical utility: Change in risk management for biological relatives • Reproductive confidence: Reproductive partner testing for genes with autosomal recessive inheritance Supported

CEA, cost-effectiveness analysis; CF, cystic fibrosis; CNV, copy number variant; CUA, cost-utility analysis; CVS, chorionic villus sampling; FXS, fragile X syndrome; MBS, Medicare Benefits Schedule; MSAC, Medical Services Advisory Committee; NIPT, non-invasive prenatal testing; PBAC, Pharmaceutical Benefits Advisory Committee; PBS, pharmaceutical benefits scheme; QALY, quality-adjusted life year; SMA, spinal muscular atrophy; WEA, whole-exome analysis

¹Net change in healthcare costs, including patient contributions

²Total cost to MBS and patients

³Cost to MBS

⁴Values redacted in PSD

⁵Positive genotype defined as presence of pathogenic or likely pathogenic variant