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Paediatric genomic testing: Navigating medicare rebatable genomic testing
Rani Sachdev1,2, Mike Field3,4, Gareth S Baynam5
1Centre for Clinical Genetics, Sydney Children's Hospital-Randwick, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.
Insights
Genomic testing is now accessible for pediatricians to order for children under 10 with developmental delays or intellectual disabilities. This guide helps navigate genetic testing, improving patient management and diagnostic certainty.
Area of Science:
- Medical Genetics
- Pediatrics
- Genomic Pathology
Background:
- Genomic testing is increasingly integrated into standard pediatric care for diagnosing genetic conditions.
- A new Medicare rebate (May 2020) enables pediatricians to order genomic tests for specific pediatric populations.
- Previously, specialized testing was primarily managed by clinical genetics teams.
Purpose of the Study:
- To guide pediatricians in utilizing genomic testing for pediatric genetic diagnoses.
- To assist in selecting appropriate genomic tests, patient consent, and interpreting results.
- To support the mainstreaming of genomic testing in pediatric practice.
Main Methods:
- Review of current guidelines and expert consensus on genomic testing in pediatrics.
- Consultation with educators, clinical geneticists, pediatricians, and genomic pathologists.
- Focus on criteria for ordering tests, consent processes, and understanding outcomes.
Main Results:
- Genomic testing offers increased likelihood of genetic diagnosis for eligible children.
- Benefits include improved patient management, reproductive planning, and diagnostic certainty.
- Potential for increased variants of uncertain significance, incidental findings, and negative results.
Conclusions:
- Genomic testing is a valuable tool for pediatricians, enhancing diagnostic capabilities.
- Understanding the nuances of genomic testing is crucial for effective clinical application.
- This guidance aims to empower pediatricians in the evolving landscape of genetic diagnostics.
Abstract:
Genomic testing for a genetic diagnosis is becoming standard of care for many children, especially those with a syndromal intellectual disability. While previously this type of specialised testing was performed mainly by clinical genetics teams, it is increasingly being 'mainstreamed' into standard paediatric care. With the introduction of a new Medicare rebate for genomic testing in May 2020, this type of testing is now available for paediatricians to order, in consultation with clinical genetics. Children must be aged less than 10 years with facial dysmorphism and multiple congenital abnormalities or have global developmental delay or moderate to severe intellectual disability. This rebate should increase the likelihood of a genetic diagnosis, with accompanying benefits for patient management, reproductive planning and diagnostic certainty. Similar to the introduction of chromosomal microarray into mainstream paediatrics, this genomic testing will increase the number of genetic diagnoses, however, will also yield more variants of uncertain significance, incidental findings, and negative results. This paper aims to guide paediatricians through the process of genomic testing, and represents the combined expertise of educators, clinical geneticists, paediatricians and genomic pathologists around Australia. Its purpose is to help paediatricians navigate choosing the right genomic test, consenting patients and understanding the possible outcomes of testing.
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