Focusing on Personalised Medicine BRCA GENE TESTING Approximately 7-10% of breast and ovarian cancers are hereditary. BRCA1 & BRCA2 tumor suppressor genes account for a high number of these cases, but it is known that other hereditary cancer related genes are associated with the risk of developing breast and/or ovarian cancer. The BRCA Plus panel assesses 12 genes known to harbour mutations related to breast and/or ovarian cancer. The BRCA Plus analysis may identify the underlying genetic mutations that are unique to your cancer. This can help provide information on potential therapeutics, resistance to therapeutics, clinical trials and new treatments you may be able to access. What is BRCA1 & BRCA2 Testing? Around 5 – 10 % of breast cancers result from a mutation in the BRCA1 and BRCA2 genes. BRCA mutations increase the risk of developing breast and ovarian cancer, and patients with BRCA mutations tend to develop breast cancers at a younger age. Mutations in the BRCA genes can be sporadic, but they are often germline, meaning they are in all cells in your body and may be passed down to your children. Testing can be performed on a buccal swab sample which may indicate if there is a germline mutation in the BRCA gene. If the mutation is germline, family members can be tested to see if they have inherited the mutation, allowing earlier detection and prevention. BRCA Plus testing can be performed off somatic samples (tissue) in patient currently diagnosed with cancer or germline samples (blood) samples in patients who are at an elevated risk of developing cancer. Why is it important to have genomic testing if I have a family history of cancer? Testing for Inherited cancer syndromes informs clinical decision making and may assist in the prevention of adverse health out- comes. BRCA1 and BRCA2 are part of complexes involved in DNA repair using homologous recombination. Women with an abnormal BRCA1 or BRCA2 gene have up to an 80% risk of developing breast cancer by age 90 and up to 55% risk of developing ovarian cancer. In addition to breast cancer, mutations in the BRCA1/2 gene also increase the risk of ovarian, fallopian tube, pancreatic cancer, gastric cancer and prostate cancers. If there is a family history of breast cancer, other members of your family can undergo genomics testing to see if they are a carrier of germline BRCA mutations. If they are identified as a carrier of the mutations, this can enable them o:t • Start cancer screening tests earlier • Get screened for that type of cancer more often • Get screening tests that are used only for people known to be at increased cancer risk • Watch yourself closely for signs or symptoms of that kind of cancer • Learn about options to help reduce the risk of certain types of cancer, such as drugs or surgery How do I organise Testing? Download Request Receive testing kit Genomics For Life Genomics For Results sent to Form and complete from Genomics receives sample Life completes nominated health and return to for Life for testing requested testing care professional *Or Genomics For Life will arrange Genomics For Life retrieval of a tissue sample from your most recent biopsy. Toll Free: 1800 445 433 Fax: 1300 658 893 Email: [email protected] Web: www.genomicsforlife.com.au Dear Doctor, Y our patient is exploring genetic testing for their cancer and has requested Genomics For Life to perform tumour profiling . Genomics For Life is a fully NATA accredited, TGA approved, clinical diagnostic laboratory located in Brisbane. It offers a complete range of genomic testing services including comprehensive molecular tumour profiling. The service is performed with the support of the patient’s referring Doctor. Si nce 2013 we have been offering and developing a sequencing service provision for both Australian and International patients. During this time we have observed how patient outcomes can be improved when information, support and analysis are provided to both the patient and the patient’s medical team throughout the entire process of genomic testing. There are many advantages for genetic testing a patient’s tumour sample including but not limited to the following: 1. Cancer gene profiling is a powerful diagnostic tool, which may provide complimentary drug target information to the standard therapies that may have been considered or completed to the patient to date. 2. Our Genomic service comprehensively analyses the DNA and RNA of the tumour and may identify mutations that are unique and may provide prognostic and predictive information. 3. The clinical interpretation, provided by Genomics for Life, takes into account both local and up-to-date international protocols for treatment options. 4. Genomic testing provides a personalised approach to cancer treatment, which may improve patient outcome. Clinical trials of over 70,000 patients have shown that personalised therapy, based on genomic profiling of tumours, is the most effective way to improve outcome, with higher response rates, longer progression free and overall survival, and fewer deaths related to adverse events across cancers. [1-3] 5. Investing in Genomic testing may save time and money that may be spent on non-targeted/unproductive therapies. There are also a few important things to note: 1. In the majority of cases, the cost of genomics testing, is not covered by Medicare, but in some cases private health insurance may pay some benefits. We encourage the patient to check with their private fund provider. 2. Our comprehensive reports will show potential treatment options, regardless of the PBS listing, which may mean the patient may be out-of-pocket for treatment if they decide to proceed with these treatment options. 3. In some cases, the results may have implications for other family members if a clinically significant germline variant is identified. 4. Our laboratory fulfils all the local regulatory requirements to be able to offer these tests, and there is local support and interpretation of its results Genetic counselling can be arranged for your patient, by health care professionals that are conversant in genetic testing. Information can also be provided about access to clinical trials both in Australia and overseas, if required. Additional information is available on our website: www.genomicsforlife.com.au, including details on our comprehensive testing menu, including response to immune checkpoint inhibitors and cell-free (liquid biopsy) based assays. The FAQ’s contain more information on how Genomics testing may assist patient care and details of the processes involved in testing. Prior to proceeding with testing, we encourage the patient to discuss with us their budget and testing options, to ensure that we offer a solution that is both economically viable for the patient and useful for the medical practitioner. If you would like to contact us, to further discuss testing, please don’t hesitate to call us on 1800 445 433 or via email at [email protected] Kind regards, Genomics For Life 1. Jardim, D. L., et al. (2015). “Impact of a Biomarker-Based Strategy on Oncology Drug Development: A Meta-analysis of Clinical Trials Leading to FDA Approval.” J Natl Cancer Inst 107(11). 2.ReferencesSchwaederle, M., et al. (2015). “Impact of Precision Medicine in Diverse Cancers: A Meta-Analysis of Phase II Clinical Trials.” J Clin Oncol 33(32): 3817-3825 3. Subbiah, V. and R. Kurzrock (2016). “Universal genomic testing needed to win the war against cancer: Genomics is the diagnosis.” JAMA Oncology 2(6): 719-720 Phone: 1800 445 433 | Fax: 07 3054 4363 | Email: [email protected] | Web: www.genomicsforlife.com.au SOMATIC MUTATION TESTING REQUEST FORM Accredited for compliance with NPAAC Standards and ISO 15189 NATA Accreditation Number: 19325 PATIENT DETAILS ORDERING MEDICAL PRACTITIONER DETAILS Patient Surname: Doctor Name: Patient Given Name(s): Provider Number: DOB: ____ / ____ / ______ Male Female Practice Name: Patient Address: Practice Address: Contact Number: Contact Number: Email: Fax: Medicare Details: Email (for results): PATIENT INFORMED CONSENT STATEMENT MEDICAL PRACTITIONER CONSENT STATEMENT I agree to the genetic analysis and the release of my tissue and/or other By signing this form, I confirm to the best of my knowledge that I have the samples for testing. consent of the patient to request somatic and/or germline testing, and that the patient is aware that this test may require pre-payment prior to commencement of the test. Patient’s Signature: Doctor’s Signature: Date: Date: PRIVACY NOTE: The information provided will be used to assess any Medicare Beneft payable for the services rendered and to facilitate the proper administration of government health programs, and may be used to update enrolment records. Its collection is authorised by provisions of the Health Insurance Act 1973. The information may be disclosed to the Department of Health and Ageing or to a person in the medical practice associated with this claim, or as authorised/required by law. CLINICAL INFORMATION Please attach all relevant patient history and pathology reports Metastatic Disease: Yes No TEST(S) REQUESTED Comprehensive Plus Solid Tumour Analysis TSP 23TM : Melanoma, Lung & Bowel Cancer Targeted Assay Transcriptome Analysis Inherited Cancer Assay Tumour Mutational Burden Assay Cell-Free DNA Testing (dPCR - Single Probe) Sarcoma Assay Cell-Free DNA Assay PanCancer Assay Lung Assay Homologous Recombination Deficiency (HRD) Assay Colon Assay Breast Assay BRCA Somatic Assay Pharmacogenomics BRCA Germline Assay Other: Please complete all the above fields. Once the Test Requesition Form has been completed, please return to Genomics For Life along with the sample. Patient must sign consent form to perform the test. Billing Information Collection Staff Only Laboratory Use Only NOTE 1: Payment must be cleared prior to testing being performed, unless Medicare rebateble. Collection Sample Rec. Sample Type: NOTE 2: There may be out-of-pocket expenses for retrieval of slides imposed by other laboratories that may Date: Type: Date: (Exp Date) be charged to the patient.