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Use and disclosure of genetic information to a patient's genetic relatives:  Guidelines for organisations in NSW
This Information Bulletin notifies NSW public health organisations and staff of the publication of the "Use and disclosure of genetic information to a patient's genetic relatives: Guidelines for organisations in NSW" (the Guidelines) by the Information and Privacy Commission NSW and to advise that the Guidelines will take effect when the Health Legislation Amendment Act 2012 is proclaimed on 1 November 2014.

The Centre for Genetics Education is dedicated to equipping health professionals who are non-genetics trained with the skills, resources and knowledge to manage the impact of genetic and genomic technologies on their practice.

Policies and Guidelines - NSW Genetic Health Web Portal
The New South Wales Ministry of Health  provides a single access point for the department's reports, policies and clinical guidelines.

Genetics in Family Medicine: The Australian Handbook for General practitioners

In late 2004, The Australian Government agency Biotechnology Australia initiated a project to develop a national educational resource on genetic medicine for Australian GPs. The outcome of this project is the Genetics in Family Medicine: The Australian Handbook for General Practitioners (2007).

EviQ - NSW Cancer Institute Cancer Treatments Online. EviQ Cancer Treatments Online provides accurate, current, relevant, and evidence based information for use at the point of care. All content development complies with a rigorous data governance model, and has led to clinicians viewing the resource as a credible information system within the Australian context.

Familial Risk Assessment - Breast and Ovarian Cancer (FRA-BOC) is an on-line tool designed for use by health professionals

    All resources can be ordered online or by contacting the Centre for Genetic Education.

    Cystic Fibrosis kit (Series of 5) (Cannot be viewed online but can be ordered online)
    1.  Basic facts about chromosomes, genes and cystic fibrosis 
    2.  How does cystic fibrosis happen?
    3.  Mutations causing cystic fibrosis 
    4.  Genetic testing for cystic fibrosis
    5.  Genetic counselling and cystic fibrosis

    Familal Aspects of Bowel Cancer for Health Professionals

    Guidelines providing information about bowel cancer and family history, and the risk and management of familial bowel cancer for health professionals and consumers.


    Order a Publication

    All publications can be ordered from the Centre online or contacting us directly.

    Referring to Genetics Services

    Patients may be referred to a genetics service for a number of reasons. These can include for genetic counselling and assessment, diagnostic assessment and/or genetic testing.


    General Genetics Clinics manage non-cancer related patients and may include paediatric, adolescent and adult genetic counselling.

    Family Cancer Clinics manage patients who require more information and possible testing for gene changes that can run in families and increased chance of developing cancer across the lifespan

    Prenatal Testing Services offer genetic counselling, prenatal screening and diagnostic testing for pregnant women and their unborn babies.

      Genetics in General Practice



        Genetics in Family Medicine, Australian Handbook for General Practitioners

        Direct to consumer testing

        In recent years the number of DNA genetic tests that is available direct to consumers, i.e. without referral from a doctor, has increased.  The NHMRC has produced a document for consumers.

        Fact Sheet



        There are Australian guidelines for health professionals that indicate for certain cancers, where there is a strong family history, the likelihood of the cancer being due to an inherited mutation in a ‘cancer protection’ gene. 

        Managing a family history of breast cancer: An article for GPs

        an on-line tool designed for use by health professionals such as general practitioners and nursesidentify risk in your patients with a family history of bowel cancerfree registration to access informationPatient Resources.jpgFamily Cancer Clinics contact.jpg



          Pregnancy and Prenatal Testing

          There are many tools available for GPs and other health professionals to assist women and their partners with planning a pregnancy.

          FOLATE can help prevent Neural Tube Defects

          Neural tube defects such as spina bifida and anencephaly  are partly caused by a lack of the B group vitamin called folate or folic acid in the mother i.e. in the pregnancy environment in which the baby is developing before birth.

          Research has shown that 7 out of 10 (70%) cases of neural tube defects can be prevented by increasing the mother’s intake of folate prior to, and during, early pregnancy.

          It is recommended that for all women, folate supplements (0.5mg per day) be taken for a least 1 month prior to possible conception and continued at that level for the first 3 three months of pregnancy.

          Some couples have a higher than average chance of having a child with a neural tube defect. These include where the mother or father themselves have a neural tube defect, women who are insulin dependent diabetics and some women who are taking anticonvulsant medications. In these situations, it may be necessary to take a higher dose of folate and/or refer for genetic counselling.


          • Genetic screening for women planning a pregnancy

          Women of particular ethnic backgrounds may have an increased chance of carrying genetic changes that can cause illness in their offspring.  GPs may feel it appropriate to conduct genetic testing on women or their partners if planning a pregnancy.

          A family history can guide GPs and other health practitioner about which tests may be useful to conduct on women planning a pregnancy. The following are examples of possible genetic testing options for couples planning a pregnancy

          Hemoglobinopthaies or thalassaemias are common in people with a family background from southern Europe, the Middle East, South-East Asia, Africa, the Indian subcontinent, South America, Caribbean and Pacific Islands.
          Fact Sheet 43 Thalassaemia and Fact Sheet 44 Sickle Cell Disease
          A number of genetic conditions are more common amongst descendants of Central and Eastern European (Ashkenazi) Jews than in people from other population groups. These conditions include Tay-Sachs disease, Canavan disease, Fanconi anaemia, familial dysautonomia and cystic fibrosis (CF).
          Fact Sheet 42 Tay Sachs Disease and other Conditions more common in the Ashkenazi Jewish Community
          Cystic Fibrosis most commonly affects people who are of Northern European or UK descent, and is also fairly frequent in people whose ancestry is Southern European and Middle Eastern, but is rare or absent where the ancestry is Asian.
          Fact Sheet 41 Cystic Fibrosis
          • Online training for GPS and other health professionals

          First Trimester Screening

          A 90 minute online category 2 activity to assist GPs and other health professionals develop skills and strategies to facilitate discussion with women around first trimester screening.

          • Find Prenatal Testing Services

          Prenatal Testing Services

          A list of Services offering Genetic Counselling and Prenatal Testing


          • MotherSafe

          Mothersafe is a NSW State-wide service that provides a comprehensive counselling service for women and their healthcare providers concerned about exposures during pregnancy and breastfeeding. Such exposures may include:

          Prescription drugs

          • Over-the-counter medications
          • Street drugs
          • Infections
          • Radiation
          • Occupational exposures

          Health practitioners are encouraged to call or refer patients to this service for review and management of medications in pregnancy.

          MotherSafe Contact Numbers

          Phone: 9382 6539 (Sydney Metropolitan Area)

          Phone: 1800 647 848 (Non-Metropolitan Area)




          Policies and Clinical Guidelines

          NSW Health has a number of policies and guidelines related to genetic health

          These can be accessed directly via a key word search here: NSW Health Policies


          FAQ:  NSW Health Privacy Guidelines -  click here

          Important NEW NSW Health Guideline Released

          Use and disclosure of genetic information to a patient's genetic relatives:  Guidelines for organisations in NSW

          This Information Bulletin notifies NSW public health organisations and staff of the publication of the "Use and disclosure of genetic information to a patient's genetic relatives: Guidelines for organisations in NSW" (the Guidelines) by the Information and Privacy Commission NSW and to advise that the Guidelines will take effect when the Health Legislation Amendment Act 2012 is proclaimed on 1 November 2014.

          Breast Cancer Information

          For individuals

          • Concerned about cancer in your family?
            Click Here
          • Want to calculate your risk of breast cancer?
            Click Here
          • A decision aid for women with a strong family history of breast cancer.
            Click Here




          For Health Professionals

          • Familial risk assessment tool for breast and ovarian cancer.
            Click Here

          Newborn Screening

          Newborn Screening (NBS) is a public health funded system for testing newborn babies for a number of rare conditions, many of which result in physical and intellectual problems if they are not treated promptly. NBS is offered to all babies born in Australia with varying state wide programs.

          The NSW Newborn Screening Programme

          Provides more details about what conditions are tested for and how the testing is done.


           What is pharmacogenomics?

          Pharmacogenomics is the technology that explores the effects of genetic information on drug responses.  Genomics generally means all or most of our genetic material, where as we use the term genetics when we talk about single gene effects or a small number of genes. 

           Why is pharmacogenomics becoming so important?

          Drugs are used in an enormous array of settings, from prevention to treatment, and it has long been noticed that people’s response to drugs varies.  In 2010 the Therapeutic Goods Administration received 14,200 cases of severe adverse drug reaction.  Reasons for this variability include environmental issues such as nutrition, drug interactions, when people take multiple drugs, and an individual’s genetic makeup.  With the increasing technology occurring in genetics we now have the ability to obtain huge amounts of genetic information, our genome, relatively quickly and at lower cost.

           How is it being used?

          In the USA, the Federal Drug Administration, is developing tools for integrating genetic and other biomarker information into drug and device development and clinical decision-making.  To date over 100 drugs have labels that include information about testing for specific genetic information prior to drug prescription.  A link to this list of drugs is

          An international group of people has formed the Clinical Pharmacogenetics Implementation Consortium (CPIC) and have developed a number of guidelines for genetic testing and specific drugs.  The list of which is provided at

           In Australia, two pharmacogenetic tests are covered by Medicare and their use is aimed at preventing adverse effects from specific drugs;  HLA-B*5701 to guide HIV therapy abacavir, and TPMT gene testing to guide therapy with thiopurine drugs.  The pharmaceutical benefits scheme that subsidises the cost of medicines in Australia, uses genetic test results to determine a person’s access to subsidised medicines. For example KRAS mutations for cetuximab (colon cancer), EGFR mutations for gefitinib (for lung cancer), and HER2 mutations for trastuzumab (breast cancer).  For these situations there is strong evidence that the specific genetic site significantly impacts on the efficacy and safety of the drug.  Over time there will be more evidence around DNA sites and drug interaction leading to more guidance on testing and drug prescription.

          Fact Sheet: Pharmacogenetics/Pharmacogenomics

          About MTHFR – Information for GPs

          About MTHFR – Information for GPs
          (MTHFR = Methylenetetrahydrofolate Reductase)




          WHAT IS MTHFR?

          The MTHFR gene encodes an enzyme in the methylation cycle (See Fig 1).

          MTHFR (‘5,10-methylenetetrahydrofolate reductase’) converts 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, and is an important cofactor in the biosynthesis of SAMe (S-adenosyl methionine), the primary methyl donor involved in regulating gene expression.

          Fig 1 - The Methylation Cycle:  

          Taken from


          A number of variants have been identified in the MTHFR gene.  The two most commonly reported variants are C677T and A1298C.  These variants are common among the general population.

          Having one or both of these variants may reduce a person's ability to metabolise folate.  This does not generally cause health problems if there is sufficient folate through diet or supplementation.  Low folate is unlikely in countries such as Australia that have folic acid fortification programs4.  (See Table 2 for more details).


          Table 1 - Frequency of MTHFR variants as a percentage of the population3


          There is insufficient evidence in the literature at this stage to determine the clinical utility of MTHFR testing. MTHFR gene variants, in combination with other factors, have been associated with an increased risk of developing a number of conditions, such as neural tube defects, cardio vascular disease, cancer, thrombophilia, infertility, autism.  

          Testing for MTHFR would be considered investigational only.

           In summary:

          MTHFR testing attracts a Medicare rebate only if there is a proved DVT/PE or a known mutation in a first degree relative.

          MTHFR testing as part of an investigation for  infertility or as a direct-to-consumer test currently occurs in some organisations in NSW.

          There is some evidence to consider MTHFR in the event of:

          A stillbirth or baby born with cleft lip and/or palate, neural tube defect and congenital cardiac abnormalities5 

          If maternal fasting homocysteine is high following investigations of fetal death associated with fetal  growth restriction, pre-eclampsia, maternal thrombosis and/or maternal family history of thrombosis5

          Stroke with elevated homocysteine6 


          DNA testing may reveal that a person has either one or two MTHFR variants.  There are currently no recommended changes in clinical management based on a MTHFR test result.

          Some people that are homozygous for the MTHFR C677T variant may develop a mild to moderate increased blood homocysteine level or hyperhomocysteinaemia.  This alone does not usually cause any symptoms or health problems, however further testing may be considered, such as B12, red blood cell folate and homocysteine.

          Table 2 - Potential MTHFR variant test results
          Remember some results will be completely normal - i.e. no variant found 


          NTDs are multifactorial conditions.  Being homozygous for the C677T variant (TT) has been associated with low red blood cell folate and has been identified as a risk factor for neural tube defects3. Folic acid supplementation, prior to, and during, early pregnancy, has been shown to increase folate status to that which is considered protective for neural tube defects, regardless of the mother's MTHFR status2.

          It is recommended that all women, regardless of their MTHFR genetic testing result, take folic acid supplements (0.5mg per day) for at least 1 month prior to possible conception and continue to take for the first 3 months of pregnancy.

          Women who have had a previous child with a neural tube defect, have a family history of neural tube defect, or are C677T homozygotes may require a higher dose of folic acid when planning a pregnancy.


          MTHFR GENE TESTING FOR PATIENTS - click to download Fact Sheet 64


          1. WHO. (2015). Guideline: Optimal serum and red blood cell folate concentrations in women of reproductive age for prevention of neural tube defects. In. (Geneva, World Health Organisation.

          2. Crider, K.S., Zhu, J.-H., Hao, L., Yang, Q.-H., Yang, T.P., Gindler, J., Maneval, D.R., Quinlivan, E.P., Li, Z., Bailey, L.B., et al. (2011). MTHFR 677C→T genotype is associated with folate and homocysteine concentrations in a large, population-based, double-blind trial of folic acid supplementation. The American Journal of Clinical Nutrition 93, 1365-1372.

          3. Botto, L.D., and Yang, Q. (2000). 5, 10-Methylenetetrahydrofolate Reductase Gene Variants and Congenital Anomalies: A HuGE Review. American Journal of Epidemiology 151, 862-877.

          4. Yang, Q., Bailey, L., Clarke, R., Flanders, W.D., Liu, T., Yesupriya, A., Khoury, M.J., and Friedman, J.M. (2012). Prospective study of methylenetetrahydrofolate reductase (MTHFR) variant C677T and risk of all-cause and cardiovascular disease mortality among 6000 US adults. The American Journal of Clinical Nutrition 95, 1245-1253.

          5. Perinatal Society of Australia and New Zealand. (2009). Perinatal Mortality Audit Guideline. 

          6. Burgunder, J.M., Finsterer, J., Szolnoki, Z., Fontaine, B., Baets, J., Van Broeckhoven, C., Di Donato, S., De Jonghe, P., Lynch, T., Mariotti, C., et al. (2010). EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. European Journal of Neurology 17, 641-648.

          7. Regland, B., Forsmark, S., Halaouate, L., Matousek, M., Peilot, B., Zachrisson, O., and Gottfries, C.-G. (2015). Response to Vitamin B12 and Folic Acid in Myalgic Encephalomyelitis and Fibromyalgia. PLoS ONE 10, e0124648.


          Fig 1 - The Methylation Cycle: Taken from

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          MTHFR Genetic test result.pdf — PDF document, 188 kB (193213 bytes)

          Patient Resources.jpg

          patient resources about family cancers
          Patient Resources.jpg
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          MTHFR For GPs1.pdf

          MTHFR For GPs1.pdf — PDF document, 521 kB (533505 bytes)

          FAQNSW Health privacy Guidelines.pdf — PDF document, 181 kB (185965 bytes)

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