Familial Cancer Testing
Familial Cancer Testing involves testing patients with a family history of malignancy to determine whether they are at increased risk of malignancy due to inherited familial genetic variants (mutations).
Well-known familial cancer syndromes include Hereditary Breast and Ovarian Cancer (HBOC) syndrome and Lynch Syndrome.
A proportion of individuals with a family history of cancer may be at increased risk of malignancy through the inheritance of genetic variants (mutations) in certain genes. Testing for these genetic variants is important as it can determine risk or make a diagnosis, and may also suggest an appropriate prevention, surveillance, or treatment strategy.
In HBOC, there are a number of high and moderate risk genes which have been demonstrated to increase risk of breast and/or ovarian cancer.
Familial cancer testing may also be important in the area of colorectal cancer, with Lynch syndrome and Familial Adenomatous Polyposis being the most well known examples of hereditary colorectal cancer syndromes. More information on our testing in this area will be available shortly.
Bulk-billing for some familial cancer syndromes is available under certain conditions. For patients who do not meet MBS criteria, Genomic Diagnostics endeavours to bring you quality testing at an affordable price.
Breast & Ovarian Cancer Tests
$399*
BraOVO Panel
- 12 gene panel – ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53
- MBS Item 73296
Results available within 3 – 4 weeks
$300*
Familial Cancer
- Single gene testing for known family pathogenic variant
- MBS Item 73297
Results available within 2 – 3 weeks
* When MBS criteria are not fulfilled.
Hereditary cancers are those where altered genes contribute to an inherited predisposition to certain cancers. In breast cancer, 5-10% are due to inherited genetic alterations. These are most commonly identified in the breast cancer susceptibility genes, BRCA1 and BRCA2, but can also occur in other genes.
BRCA status can have significant implications for the therapeutic management of carriers. Cancer is complex, as one gene may be responsible for many different cancer types or many genes acting together may increase a woman’s risk of developing breast and ovarian cancer. Therefore, it is recommended these tests be ordered by, or in consultation with, specialists familiar with the implications for management.
| Test Name | BRCA1 and BRCA2 Genetic Testing |
|---|---|
| Clinical Indication | Used to: 1. Determine eligibility for treatment with Olaparib under the PBS in patients with relapsed high grade serous ovarian cancer 2. Determine risk for patients with a personal and/or family history suggestive of Hereditary Breast and Ovarian Cancer Syndrome. |
| Gene(s) | BRCA1, BRCA2 |
| Method | Massively Parallel Sequencing |
| Turn around time | 4 weeeks |
| Medicare Eligibility | 73295 – conditions apply |
| Sample Type | Blood x 2 |
| Collection Type | 10mL EDTA tube |
| Special Instructions | 2 x Bloods taken at 10 minute intervals. Pre test genetic counselling required. Patient to sign consent form prior to testing. |
| Test Name | Breast/Ovarian Cancer BRaOVO Gene Panel | |
|---|---|---|
| Clinical Indication | Determine presence of pathogenic variations in patients with a personal and/or family history suggestive of high risk (>10%) of having Hereditary Breast and Ovarian Cancer Syndrome. | Determine presence of pathogenic variations in patients with a biological relative with a confirmed pathogenic variation in one or more of the genes specified below |
| Gene(s) | ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 | |
| Method | Massively Parallel Sequencing & MLPA | Massively Parallel Sequencing |
| Turn Around Time | 3 – 4 weeks | |
| Medicare Eligibility | 73296 – criteria apply | 73297 – criteria apply |
| Sample Type | Blood x 2 | |
| Collection Type | 10mL EDTA tube | |
| Special Instructions | 2 x Bloods taken at 10 minute intervals. Pre test genetic counselling required. Patient to sign consent form prior to testing. | |
| Test Name | Predictive familial cancer test |
|---|---|
| Clinical Indication | Determine presence of mutations in patients with a biological relative with a confirmed pathogenic variation in one or more of the genes specified below. |
| Gene(s) | ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 |
| Method | Massively Parallel Sequencing |
| Turn around time | 2 weeks |
| Medicare Eligibility | 73297 – criteria apply and only particular genes covered |
| Sample Type | Blood x 2 |
| Collection Type | 10mL EDTA tube |
| Special Instructions | 2 x Bloods taken at 10 minute intervals. Pre test genetic counselling required. Patient to sign consent form prior to testing. |
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