Table 1.
Description of recent1 requests to MSAC for public funding of genetic or genomic testing for suspected heritable conditions
| Appl number(s) (reference) | Title | Purpose of testing | Initial target population(s) to be tested | Scale of testing proposed | Date considered2 |
|---|---|---|---|---|---|
|
1411 1411.1 |
Genetic testing for hereditary mutations predisposing to cancer (breast and/or ovarian) | Genetic testing for risk of cancer | Individual with breast or ovarian cancer | Sequencing of at least the BRCA1 and BRCA2 genes | Mar 2016 |
|
1449 |
Genetic testing for Alport syndrome | Molecular diagnosis of genetic disorder | Individual clinically suspected to have Alport syndrome | Targeted whole-exome sequencing of the COL4A3, COL4A4 and COL4A5 genes | Mar 2018 |
|
1476 |
Genetic testing of childhood syndromes | Identification of congenital anomaly syndrome | Child (10 years or younger) with suspected genetic syndrome due to dysmorphic facial appearance, one or more structural anomalies, intellectual disability or global developmental delay of at least moderate severity | Untargeted whole-exome sequencing | Aug 2019 |
|
1458 1461 1492 |
Non-invasive prenatal testing (NIPT) | Identification of congenital anomaly syndrome | Any pregnant woman to detect foetal aneuploidy | Chromosome analysis for trisomy 21 (Down syndrome), trisomy 18 (Edward syndrome), trisomy 13 (Patau syndrome), and monosomy X (Turner syndrome) | Nov 2019 |
|
1504 |
Heritable mutations which increase risk in colorectal and endometrial cancer | Genetic testing for risk of cancer | Individual with personal history of colorectal or endometrial cancer suggestive of hereditary basis, incl: juvenile polyposis syndrome, Peutz-Jeghers syndrome, hereditary mixed polyposis syndrome, suspected Lynch syndrome, familial adenomatous polyposis, or MUTYH-associated polyposis | Testing of the following genes: APC, SMAD4, BMPR1A, MLH1, MSH2, MSH6, PMS2, STK11, GREM1, MUTYH, EPCAM* [*deletions associated with epigenic silencing of MSH2] | July 2018 |
|
1533 |
Testing for pregnancies with major foetal structural abnormalities detected by ultrasound | Identification of congenital anomaly syndrome | A pregnant woman where antenatal ultrasound has detected major foetal structural abnormalities | Genome-wide micro-array | Nov 2019 |
|
1534 |
Familial hypercholesterolaemia | Genetic risk assessment | Individuals with elevated levels of LDL-cholesterol who are clinically suspected as having familial hypercholesterolaemia | Genetic testing of at least the following genes: LDLR, APOB, PCSK9 | Mar 2019 |
|
1554 |
Germline or somatic testing for BRCA1/2 to determine eligibility for olaparib | Pharmacogenomics | Individuals with newly diagnosed, advanced (FIGO stage III–IV), high-grade epithelial ovarian, fallopian tube, or primary peritoneal cancer, to determine PBS eligibility for olaparib | Blood and tumour tissue testing to detect germline or somatic pathogenic variants in the BRCA1 or BRCA2 genes | Jul 2020 |
|
1573 |
Reproductive carrier testing for cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS) | Carrier screening | Individual and/or their reproductive partner planning a pregnancy | For CF: MALDI-TOF, allele specific amplification, Sanger sequencing or NGS for CFTR variants, and for SMA: MLPA probes or qPCR for SMN1, and for FXS: fragment analysis (primed PCR to detect triplet repeat expansion) | Jul 2020 |
|
1598 |
Genetic testing for diagnosis of inheritable cardiac rhythm disorders | Molecular diagnosis of genetic disorder | Individuals with clinical suspicion of inherited cardiac arrhythmia or channelopathy | Genetic testing (including copy number variation) of at least the following genes: KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, CACNA1C, RYR2, CASQ2, CAV3, SCN4B, AKAP9, SNTA1, KCNJ5, ALG10, CALM1, CALM2, ANK2, TECRL, and TRDN | Nov 2020 |
CFTR, cystic fibrosis transmembrane conductance regulator protein; FIGO, the International Federation of Gynecology and Obstetrics; MLPA, multiplex ligation-dependent probe amplification; NGS, next-generation sequencing; PBS, pharmaceutical benefits scheme; PCR, polymerase chain reaction; qPCR, quantitative polymerase chain reaction
1 ‘recent’ is defined as applications considered by MSAC at their March 2016 meeting or later and where a public summary document (PSD) was available at the time of analysis
2Date of consideration is the most recent consideration by MSAC. Some applications had more than one consideration by MSAC and may have more than one PSD