Genetics

Clinical geneticists are medical doctors
with special training and skills in the area
of genetic conditions

sisters hugging
toddler sitting on grass
asian teenager

What is Clinical Genetics?

Clinical geneticists are medical doctors with special training and skills in the area of genetic conditions. Clinical geneticists specialise in the diagnosis and management of genetic conditions. Clinical geneticists also often have a background in child health.

How does a Clinical Geneticist help?

A clinical geneticist can:

  • Diagnose genetic conditions – assessment of children who have developmental delay, congenital anomalies or other medical issues to assess whether they may have a genetic condition.

  • Help families understand genetic conditions and how genetic conditions are passed on

  • Assess genetic risk – provide information about the risk of you or your child having a genetic condition due to a family history of a genetic condition.

  • Assess whether genetic testing is indicated, help families decide whether genetic testing may be helpful for them and their relatives, organise the most appropriate genetic test, and interpret the result.

  • Advise couples planning a family about the most appropriate genetic testing before and during the pregnancy.

  • Provide advice to paediatricians and other treating doctors about how best to manage a genetic condition.

What to expect from a genetics appointment

The first appointment will typically take 60 minutes and subsequent appointments are up to 45 minutes.

Assessment of multiple family members may be required, in which case a referral from a specialist or GP will be required for each of the relevant family members. Our administration team will let you know if this is required after review of the doctor’s referral for the patient.

Many genetic tests are not covered by Medicare. There may be out of pocket costs if genetic testing is recommended. Costs will be discussed with you before testing is arranged.

Meet Consulting
Clinical Geneticist

  • Independent Consulting Clinical Geneticist
    ABN 88 758 987 597

    Qualifications: MBBS FRACP

    Shannon completed her medical degree at the University of Adelaide in 2012, before undertaking paediatric training through the Women’s and Children’s Hospital Network in South Australia. She obtained Fellowship to the Royal Australasian College of Physicians in 2022 having completed her advanced training in Clinical Genetics at the Women’s and Children’s Hospital, the Royal Adelaide Hospital, and the Victorian Clinical Genetics Service in Melbourne. She has a broad range of experience in diagnosing and managing paediatric, reproductive and adult-onset genetic conditions. Shannon consults in private practice at Adelaide Paediatrics' Kensington Park location alongside her work as a consultant at the Women’s and Children’s Hospital.

    Shannon provides consultation for children and their families presenting with a known or suspected genetic condition with a strong focus on developmental and complex health issues. Identifying a genetic diagnosis may assist in understanding of the condition, guiding management and surveillance and determining the future implications for the individual and their relatives.

    Shannon understands the complexities faced by families when considering genetic testing and receiving a genetic diagnosis and is passionate about supporting families through this process. Shannon has experience in arranging and interpreting a wide range of investigations utilising current genomic technologies and is skilled in discussing the benefits and limitations of these tests to help families make an informed decision about genetic testing.

    Helping children and families with:

    1) Medical assessment of children with a suspected or confirmed genetic condition

    2) Arranging and interpreting genetic tests when appropriate; Interpretation of paediatrician ordered genetic testing including diagnosis discussion, providing management and surveillance advice, interpretation of uncertain findings and providing advice about recurrence risk

    3) Assessment of genetic risk for individuals with a family history of a genetic condition or a chromosomal anomaly to assess their risk of inheriting the condition or passing it on to their children

    4) Pre-pregnancy carrier screening and assessment of risk for genetic condition in a pregnancy

    Shannon does not accept referrals for:

    1) Assessment for a possible inherited cancer predisposition syndrome. Referral to a Familial Cancer Centre is recommended.

    2) Interpretation or management of direct-to-consumer genetic test results

    3) Pharmacogenomics

    4) Prenatal (current pregnancy) consultations regarding risk of an inherited condition or interpretation of abnormalities identified in a pregnancy. Referral to the Paediatric and Reproductive Genetic s Unit at the Women’s and Children’s Hospital is recommended.

    As the mother of a young son herself, Shannon strives to make complex genetics information accessible and understandable to young people and their families. When not at work she enjoys rowing and spending time with her family.

    Make an appointment:

    Adelaide Paediatrics Kensington Park
    360 Magill Road
    Kensington Park SA 5068
    T: 08 7123 6176
    F: 08 7123 0821

Make a booking

Independent Medical Specialists consulting in private practice at Adelaide Paediatrics triage incoming referrals and aim to accommodate urgent referrals as soon as possible, offering the earliest available appointment
with a paediatrician

  • Adelaide Paediatrics Ashford
    Suite 15, Level 3 Ashford Specialist Centre
    57-59 Anzac Highway
    Ashford SA 5035

    T: 08 7123 6171
    F: 08 7123 0821

  • Adelaide Paediatrics Bedford Park
    Mark Oliphant Building
    8/5 Laffer Drive
    Bedford Park
    SA 5042

    T: 08 7123 6149
    F: 08 7123 0821

  • Adelaide Paediatrics Elizabeth Vale
    32 Oldham Road
    Elizabeth Vale
    SA 5112

    T: 08 7123 6148
    F: 08 7123 0821

  • Adelaide Paediatrics Kensington Park
    360 Magill Road
    Kensington Park
    SA 5068

    T: 08 7123 6176
    F: 08 7123 0821

  • Adelaide Paediatrics Mile End
    SuperGym Therapy & Rehab Centre
    71 Henley Beach Road
    Mile End SA 5031

    T: 08 7123 6147
    F: 08 7123 0821

  • Adelaide Paediatrics Morphett Vale
    221-223 Main South Road
    Morphett Vale SA 5162

    T: 08 7123 6163
    F: 08 7123 0821

  • Adelaide Paediatrics Mount Barker
    2/50 Victoria Road
    Mount Barker SA 5251

    T: 08 7123 6175
    F: 08 7123 0821

  • Adelaide Paediatrics North Adelaide
    Calvary Hospital
    89 Strangways Terrace
    North Adelaide SA 5006

    T: 08 7123 6173
    F: 08 7123 0821

  • Adelaide Paediatrics Wayville
    The Terraces
    4-6 Goodwood Road
    Wayville SA 5034

    T: 08 7123 6177
    F: 08 7123 0821