Studies and evidence

Clinician's views and experiences on genomic testing for infants with deafness Notini, et al. (2022)

What parents value about genomic testing for deafness Tutty, et al. (2021)

Genomics saves $3,230 per additional diagnosis Jayasinghe, et al. (2021)

Diagnosis of the type of bone marrow failure changed for 1 in 4 patients, providing critical information for their care Blombery, et al. (2020)

Genomic testing is an effective diagnostic tool for patients with dilated cardiomyopathy Ramchand, et al. (2020)

Real-world perspective on newborn genomic screening Downie, et al. (2020)

Mapping a condition-specific quality of life questionnaire to a standard QoL instrument to support its use in health economic evaluation Catchpool, et al. (2020)

Compared to historical testing, genomic sequencing saves $3,602 per child and doubles the number of children diagnosed Yeung, et al. (2020)

50% received informative results; care changed for two-thirds of patients Jayasinghe, et al. (2020)

Genomic sequencing is cost-effective for deafness; results in 2x as many diagnoses Downie, et al. (2020)

Genomics ends diagnostic odysseys; care for two-thirds of patients changed Eratne, et al. (2020)

Long-term factors improve the cost-effectiveness of genomic sequencing Schofield, et al. (2019)

Genomics is a more cost-effective way of identifying which relatives need ongoing medical monitoring in families with inherited dilated cardiomyopathy Catchpool, et al. (2019)

Trio testing more than halves the time doctors need to find a result Tan, et al. (2019)

Almost 3x the number of babies born with deafness had the cause identified following genomic testing Downie, et al. (2019)

Exome sequencing is superior to panel testing for children with a suspected genetic condition Dillon, et al. (2018)

Rapid genomic sequencing delivered results 10x faster for critically ill babies, with more than half diagnosed Stark, et al. (2018)

Early use of genomic sequencing improves diagnosis and care and is more cost-effective Stark, et al. (2018)

Clinically driven variant prioritisation increases efficiency of genomic data analysis Stark, et al. (2017)

Genomic testing is an effective diagnostic tool for focal epilepsies and can influence care Perucca, et al. (2017)

Genomic sequencing has high diagnostic utility for patients with neuropathy and can save health dollars Walsh, et al. (2017)

Genomic sequencing triples the diagnostic rate for one-third the cost Stark, et al. (2017)

Genomic testing diagnosed over 50% of the cohort, with 35% of the diagnoses unexpected Tan, et al. (2017)

Genomic sequencing led to 4x more diagnoses for rare childhood diseases Stark, et al. (2016)