The 2018 Newborn Bloodspot Screening Best Practice Forum, presented by the Department of Health and Human Services and supported by Victorian Clinical Genetics Services (VCGS), was held on Friday 22 June in Melbourne. The forum featured presentations from leading experts with a focus on best practice, timeliness, quality, and an update on the recently released Newborn Bloodspot Screening National Policy Framework.
Victorian Clinical Genetics Services (VCGS) welcomes the $500M allocation to investment in genomic research as part of the federal budget 2018.
The first research project ‘Mackenzie’s Mission’ is a $20M trial into pre-conception genetic carrier screening for serious genetic conditions like cystic fibrosis, spinal muscular atrophy and fragile X syndrome.
Rapid genomic testing will soon be available to critically unwell Australian babies and children with suspected genetic conditions, as part of four new national genomic research studies launched by Australian Genomics.
Carrier screening gives individuals and couples information about their chance of having a child with an inherited genetic condition: specifically cystic fibrosis (CF), fragile X syndrome (FXS) or spinal muscular atrophy (SMA). These three genetic conditions have serious health consequences and are some of the most common inherited conditions in the general population.
VCGS has been recognised for their groundbreaking work in genetic diagnostics by winning the ‘Improving Children’s Health’ category in the 2017 Victorian Public Healthcare Awards.
Their project titled ‘Pioneering clinical genomics in undiagnosed children’ demonstrated the benefits of genomic sequencing early in the diagnostic pathway. Sequencing provided a diagnosis in more than 50 per cent of patients, four times the rate of standard care (and cheaper too).
In June 2017, the Victorian Clinical Genetics Services became the first to include the assessment of all 24 chromosomes (chromosomes 1-22 + X and Y) in its non-invasive prenatal testing (NIPT) service. Most NIPT services identify pregnancies at increased chance of the common chromosome conditions such as Down syndrome, however percept™ now gives women and couples access to additional information about the health of their pregnancy.
The partumpost by VCGS is a short educational newsletter that explores a range of topics and questions related antenatal genetic screening and diagnostic testing.
partumpost April Vol1 Iss 1 - sensitive screening at low fetal fractions
partumpost May Vol1 Iss 2 - NIPT: twins, triplets & co-twin demise