Tasmanian Clinical Genetics Service

Tasmanian Health Service - Northern Region

Tasmanian Clinical Genetics Service (TCGS)

The Tasmanian Clinical Genetics Service (TCGS) is a statewide service providing assessment, diagnosis, genetic testing, management advice, counselling and support for individuals and families who have, or are at risk of having, a genetic condition. Our services include:

  • Paediatric Genetics – diagnosis, genetic testing and management advice for children with birth defects, intellectual disability, developmental delay, metabolic or single gene disorders or chromosomal syndromes
  • Reproductive Genetics – genetic testing, counselling and advice on reproductive options for couples who are pregnant or planning pregnancy who are at high risk of a genetic condition due to family history, consanguinity, ethnicity, high risk screening test results or abnormal ultrasound findings
  • Adult Genetics – diagnostic and predictive/pre-symptomatic testing for adult onset disorders including skeletal and connective tissue disorders, neurological, renal, cardiac, endocrine and metabolic disorders
  • Familial cancer syndromes – risk assessment, genetic testing, and cancer risk management advice

Location

The TCGS is a state-wide service based at the Royal Hobart Hospital with Genetics Clinics held regularly at:

  • Royal Hobart Hospital
  • Launceston General Hospital
  • North West Regional Hospital, Mersey Campus, Latrobe

Staff

Dr Mathew Wallis
Consultant Clinical Geneticist
Jo Burke
Manager, Genetic Counsellor, FHGSA
Julia Mansour
Senior Genetic Counsellor, FHGSA
 
Briony Patterson
Associate Genetic Counsellor, MHGSA
Rachel Pope-Couston
Associate Genetic Counsellor, MHGSA
Sarah Leighton
Associate Genetic Counsellor, MHGSA

Hours

Monday – Friday; 9am to 5pm.

Contact Details

Phone (03) 6166 8296

Fax (03) 6173 0328

Email: tcgs@ths.tas.gov.au

Information for Patients

  • Most patients are referred to the TCGS by their GP or specialist who sends a referral letter by mail or fax. On receipt of the referral letter, generally a genetic counsellor will contact the patient by phone to discuss the issue of concern, collect relevant family history information, and arrange an appointment at a clinic in Hobart, Launceston or Latrobe, if needed.
  • Self referrals may be accepted in some instances (ie where family members have already been seen by the TCGS)
  • In some cases, the issue of concern can be resolved by phone without the need for an appointment.
  • If you are referred because a family history of cancer has raised the possibility of an inherited cancer syndrome, we will require detailed information about the cancer diagnoses in the family. In the first instance, you will receive a family history questionnaire and Cancer Registry verification consent form to complete and return to the TCGS. The information you provide is used to assess the likelihood of an inherited predisposition to cancer in the family. Appointments are generally not offered until a family history questionnaire has been completed.
  • After your appointment you will receive a letter summarising the information provided, options for next steps and the outcome of any test results. This letter will also be sent to your referring doctor and/or your GP.
  • There is no charge for an appointment at the Genetics Glinic.
  • If a genetic test is organised for you, this will be free of charge.

Information for referring Doctors

Referrals should be addressed to Dr Mathew Wallis.

Mail:

Dr Mathew Wallis

Tasmanian Clinical Genetics Service
C/- The Royal Hobart Hospital
GPO BOX 1061
HOBART Tasmania 7001

Fax: (03) 6173 0328

email: tcgs@ths.tas.gov.au

To avoid delays, please send referrals directly to the TCGS at the address above, and not via specialist clinics at the RHH, LGH or Mersey Hospital.

Please include patient's name, address, telephone number/s, date of birth and the reason for the referral. If you have any relevant test results these should be included with your referral.

Information for referring doctors regarding breast cancer genetic testing

The Tasmanian Clinical Genetics Service (TCGS) receives a large number of referrals concerning the issue of Hereditary Breast and Ovarian Cancer (caused by mutations in the BRCA1 and BRCA2 genes). Many patients referred have unrealistic expectations of their eligibility for genetic testing and of the testing process. Fewer than half of the women referred to the TCGS for consideration of BRCA1/2 testing qualify for testing, and of those tested, a mutation is identified in fewer than 20% of patients. This page provides some background information for doctors considering making a referral.

Mutation detection (genetic testing to search for a mutation in BRCA1 or BRCA2) costs approximately $500 and a Medicare Rebate applies only to women diagnosed with either breast or ovarian cancer in whom the likelihood of finding a BRCA1/2 mutation is determined to be at least 10%.

The algorithm we use to calculate the likelihood of a BRCA1/2 mutation is complex, and takes into account family history of breast and ovarian cancer, ages at diagnosis, family structure (ie number and ages of unaffected women), as well as tumour histology. Clearly not all of this information will be available to you when a patient requests a referral. The eviQ referral guidelines are designed to help you decide which patients to refer to the Genetics Clinic.

Please note that mutation detection can only be offered to a living affected person in the first instance. If a mutation is found in this person, then predictive testing can be offered to that person's unaffected relatives.

That does not mean you cannot refer a patient who has not had cancer themselves – you can, but you will need to advise the patient that an affected relative will need to be involved, usually at a joint appointment. If a patient presents with a FHx of breast/ovarian cancer, but all of their affected relatives are deceased, no testing can be offered (however you may still consider making a referral for risk assessment and surveillance advice).

If you refer a patient to the TCGS for consideration of BRCA1/2 testing, please advise the patient that the process is likely to take several months – starting with a thorough assessment of the family history, including verification of pathology. Patients will not be offered an appointment until a family history questionnaire has been completed. Some patients will not require an appointment at all if they are assessed as moderate or low risk. In all cases a letter will be written back to the referring doctor summarising the outcome of our assessment.

The TCGS does not have the resources to facilitate genetic testing for women who do not meet the criteria for funded genetic testing. Self-funded genetic testing is available through a number of private genetic clinics by Telehealth, and we can provide doctors with information on how to organise self-funded testing for a patient if required.

If you are unsure about whether to refer a patient or not, check the eviQ referral guidelines, or telephone our service and ask to speak with a genetic counsellor.

Research

The TCGS also has a range of research interests including:

  • The diagnosis and management of renal genetic conditions
  • Mainstreaming of genetic testing/improved equity of access to genetic testing
  • Management of unclassified genetic variants
  • Communication of genetic information within families
  • Legal and ethical aspects of clinical genetics including:
    • Informed consent for genetic testing and the right ‘not to know’
    • Prioritising genetic testing/distributive justice
    • Genetic testing in minors/protecting patient autonomy

Researchers interested in collaborating with the TCGS are welcome to make contact.

Where appropriate, the TCGS can facilitate the recruitment of patients into ethically approved research studies. Some research programs with which we are currently affiliated include:

  • Australian Genomic Health Alliance Rare Disease Flagships:
    • Mitochondrial disorders
    • Inherited Cancer Connect Partnership(ICCon)
  • kConFab: Kathleen Cunningham Foundation Consortium for research into Familial Breast cancer.
  • Variants in Practice (VIP): Integration of genetic testing for risk associated genomic variants and rare predisposition genes into the management of high risk hereditary breast cancer families (Peter MacCallum Cancer Institute).
  • Genetics of Colonic Polyposis (Melbourne School of Population and Global Health, University of Melbourne).

Publications

  • Forrest, L., Burke, J., Bacic, S., & Amor, D. (2008). Increased genetic counseling support improves communication of genetic information in families Genetics In Medicine10(3), 167-172. doi: 10.1097/gim.0b013e318164540b
  • Coman, D., Bacic, S., Boys, A., Sparrow, D., Dunwoodie, S., Savarirayan, R., & Amor, D. (2008). Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p. American Journal Of Medical Genetics Part A146A(15), 1972-1976. doi: 10.1002/ajmg.a.32299
  • Cao, Z., Yu, R., Dun, K., Burke, J., Caplin, N., & Greenaway, T. (2011). 22q11.2 deletion presenting with severe hypocalcaemia, seizure and basal ganglia calcification in an adult man. Internal Medicine Journal41(1a), 63-66. doi: 10.1111/j.1445-5994.2010.02374.x
  • Delatycki, M., Burke, J., Christie, L., Collins, F., Gabbett, M., & George, P. et al. (2014). Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis. Twin Research and Human Genetics17(06), 578-583. doi: 10.1017/thg.2014.65
  • Geake, J., Ritchey, D., Burke, J., Halliday, A., Wood-Baker, R., & Maguire, G. (2014). Sudden death in a young male with a recent pneumothorax: a case report. European Respiratory Review23(131), 145-147. doi: 10.1183/09059180.00004913
  • Kearton, S., Wills, K., Bunting, M., Blomfield, P., James, P., & Burke, J. (2017). Cancer risk management in Tasmanian women with BRCA1 and BRCA2 mutations. Familial Cancer17(3), 333-344. doi: 10.1007/s10689-017-0047-1
  • Walpole, S., Pritchard, A., Cebulla, C., Pilarski, R., Stautberg, M., & Davidorf, F., de la Fouchardière A, Cabaret O, Golmard L,  Stoppa-Lyonnet D  , Garfield E, Njauw CN, Cheung M,  Turunen JA  , Repo P, Järvinen RS, van Doorn R,  Jager MJ  , Luyten GPM, Marinkovic M, Chau C,  Potrony M  , Höiom V, Helgadottir H, Pastorino L,  Bruno W  , Andreotti V, Dalmasso B, Ciccarese G,  Queirolo P  , Mastracci L, Wadt K, Kiilgaard JF,  Speicher MR  , van Poppelen N, Kilic E, Al-Jamal RT,  Dianzani I  , Betti M, Bergmann C, Santagata S,  Dahiya S  , Taibjee S, Burke J, Poplawski N,  O'Shea SJ  , Newton-Bishop J, Adlard J, Adams DJ,  Lane AM  , Kim I, Klebe S, Racher H,  Harbour JW  , Nickerson ML, Murali R, Palmer JM,  Howlie M  , Symmons J, Hamilton H, Warrier S,  Glasson W  , Johansson P, Robles-Espinoza CD, Ossio R,  de Klein A  , Puig S, Ghiorzo P, Nielsen M,  Kivelä TT  , Tsao H, Testa JR, Gerami P,  Stern MH  , Paillerets BB, Abdel-Rahman MH, Hayward NK. (2018). Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide. JNCI: Journal of The National Cancer Institute110(12), 1328-1341. doi: 10.1093/jnci/djy171

Representation

TCGS staff represent Tasmania on a number of national committees including:

  • The Human Genetics Society of Australasia Ethics, Education and Social Issues Committee
  • The Human Genetics Society of Australasia (Vic/Tas Branch)
  • The Human Genetics Society of Australasia Special Interest Group in Cancer Genetics.
  • The Australasian Association of Clinical Geneticists
  • The Australasian Society of Genetic Counsellors
  • The Australasian Society of Genetic Counsellors Professional Issues Committee
  • EviQ Cancer Genetics Reference Committee
  • The Genomics Education Network of Australasia