Genetics

The Genetics Department at Monash Children’s Hospital, as part of Monash Health assists with the diagnosis, management, counselling and support of children and adults with a wide range of genetic disorders.

These range from the more common genetic conditions such as cystic fibrosis to rarer genetic conditions.

The genetics team uses a non-directive, patient-centred care approach, assisting patients and families to understand and make informed decisions about their healthcare options.

Patients attending this service may have a genetic disorder or be at risk of one through their family history.

Most genetic consultations are outpatient appointments at Monash Children’s Hospital or Monash Medical Centre, Clayton, and a weekly outpatient clinic is also held at Berwick Healthcare on Tuesday afternoon. Ward consultations can also be organised as required.

Genomic testing

Genomics is a relatively new discipline which offers large scale genetic testing, enabling all of an individual’s genes to be read in a single test. Monash Genetics is committed to the advances in genomic technology, offering testing for many children with rare and complex childhood syndromes.

Some genomic testing is funded by Medicare (<11 years of age and fulfilling eligibility criteria). Other routes for a funded test are available, through Department of Health and Monash Health funding.

Paediatric genetics? Clinics provide assessment, diagnosis and a management plan for children with genetic conditions. Monash Genetics provides an assessment and diagnostic service only; ongoing long-term management is not provided by Monash Genetics, and is referred back to a paediatrician to arrange.

Specialty clinics

The general genetics team provides various multi-disciplinary specialty clinics in neurogenetics, cardiac genetics, renal genetics, skeletal dysplasias, hearing loss, craniofacial and cleft lip and palate, genetic skin conditions.

Management plan

Genetic testing is organised, where applicable, to assist with diagnosis, and management of various genetic conditions. After diagnosis, patients and their parent or guardian will receive a management plan and detailed summary letter to assist communication with relatives and other healthcare providers. They may be referred to specialist clinics for assessment, and/or ongoing management which may include medical, surgical or allied health interventions. Monash Genetics will hand over the ongoing management to the paediatrician to continue.

Staff

Our multi-disciplinary service is led by Unit Head, Clinical Geneticist A/Prof Matthew Hunter and Co-Unit Unit Managers, Senior Genetic Counsellors Helen Kincaid and Anita Gorrie.

Other Clinical Geneticists in the team include Dr Emma Krzesinski, Dr Matthew Regan, and Dr Andrew Fennell, Neurologist & Clinical Geneticist Professor Michael Fahey, Cardiologist and Clinical Geneticist Dr Kunal Verma and visiting specialists including Associate Professor Tiong Tan (craniofacial and cleft), Professor Ravi Savarirayan (bone dysplasia), and Dr Sarah Lee (neurology).

Our team of dedicated genetic counsellors are available daily for advice regarding referrals and patient care. Many appointments are led by genetic counsellors with pre- and post-clinic input from a clinical geneticist.

Our accomplished administration team, headed up by Angie Byrnes, powers our whole department, and provides attentive phone service to patients.

Referrals to the Genetics Department at Monash Children’s Hospital should be addressed to the Head of Unit, A/Prof Matthew Hunter. The patient will be seen by a clinician within the department. The referral should indicate that it is valid for an indefinite period. It is vital to include genetic test results, letters and other assessments relevant to the condition, if these were not performed at Monash Health. Correspondence regarding the patient’s contact with our clinic will be sent back to the referring doctor and other relevant doctors.

Please note: Monash Health also has another genetics department, the Familial Cancer Centre (FCC), which focuses on the diagnosis and counselling of inherited cancer syndromes. Referrals to the FCC should be made separately.

To view the Monash Children’s Health Referral Guidelines, please visit the Referrals – Genetics page on the Monash Health website.

General enquiries
P: (03) 9594 2026