Paediatric genetics is the assessment of children with developmental, cardiac, neurological, chromosomal and other genetic conditions. It helps families understand the reasons behind a child’s difficulties, whether further testing may be useful, and what support may help. At Clarity Genetics, children are seen by a clinical geneticist with paediatric genetics experience, in person in Sydney or by telehealth across Australia. We will let you know which is most appropriate for your child.
When a child is experiencing developmental delay, learning difficulties or other concerns, families often want to understand why. A paediatric genetics assessment looks carefully at a child’s development, health and family history, and considers whether a genetic explanation may be part of the picture. For many families, the appointment brings clarity and direction, whatever the outcome.
A paediatric genetics assessment can be helpful when there are questions about a child’s development, growth or health that may have a genetic basis. Children are usually referred by a paediatrician, GP, recommended by an allied health professional or self-referred, where families can ask their doctor about a referral.
An assessment may be appropriate for a child with:
A paediatric genetics appointment is unhurried and family-centred. The clinician will talk with you about your child’s development, health and growth, review any previous assessments, and take a detailed family history. A physical examination of your child is often part of the appointment, carried out gently and at your child’s pace.
The clinician will then discuss what the assessment suggests and whether genetic testing is likely to be helpful for your child. Careful clinical evaluation always comes before any testing, because testing is only useful when it is the right step. Where testing is recommended, what it involves and what it can tell you are explained fully before any decision is made.
To help the appointment go smoothly, it is very helpful to bring any reports from paediatricians, allied health professionals or schools, along with information about your child’s early development and relevant family history. If you are unsure what would be helpful, the practice team will guide you when you book.
Genetic testing is only one part of a paediatric genetics assessment, and it is not always needed. When it is appropriate, several types of testing may be considered. Chromosomal microarray analysis looks for missing or extra genetic material and is a common first-line test for children with developmental concerns. Advanced genetic testing, such as genomic sequencing (eg whole exome or genome sequencing) – is a common consideration for many families.
Your clinician will explain which type of testing, if any, is likely to be useful for your child, what each test can and cannot tell you, and what the results might mean for your family. The aim is always to make sure testing is helpful and appropriate before it is arranged. Chromosome testing is usually fully covered by Medicare. We will let you know about Medicare rebates for genomic or other testing.
Clarity Genetics accepts referrals from paediatricians, general practitioners and allied health professionals for children with developmental, neurological or suspected genetic conditions. The most common reasons for referral are developmental delay or intellectual disability, and assessment includes consideration of whether chromosomal microarray, whole-exome sequencing, or other testing is appropriate.
A consultant report is provided following each consultation. Referral templates and the practice referral form are available on request.
Paediatric genetics consultations are available in person in Sydney and by telehealth across Australia. A valid referral is required to access Medicare rebates, and eligibility depends on the clinical circumstances.
Telehealth can work well for many paediatric appointments and is convenient for families travelling from outside Sydney. It can be of benefit to families with children with significant behavioural conditions such as autism spectrum to conduct the appointment from your home. Where a physical examination of your child is clinically helpful, an in-person appointment may be arranged.
