Genetic Testing in a Breast Cancer Setting: Empowering Early Treatment Decisions

Genetic testing has emerged as an important tool in shaping treatment decisions and risk management strategies for women who have been newly diagnosed with breast cancer. Approximately 5-10% of women who develop breast cancer carry a gene fault in a breast cancer gene such as BRCA1 or BRCA2which increases their risk of developing the disease. In this article, we explore the importance of adopting early genetic testing in the breast cancer setting and how it can guide personalised approaches to treatment and risk reduction.

Influence on breast cancer treatment decisions

The significance of genetic testing in breast cancer treatment decisions cannot be understated. For example, women with an inherited gene mutation may decide to have a bilateral mastectomy rather than a wide local excision to reduce their risk of developing another breast cancer. Having a known mutation may also influence the choice of adjuvant therapies or determine eligibility for clinical trials.

This information can also determine if risk management or screening for cancer in other organs should be considered (i.e. the ovaries).

Empowering Relatives and Family Risk Assessment:

It is equally important for a women’s relatives to know if they are at high risk of developing breast/ovarian cancer due to an inherited cause. This information can be used to provide risk reducing strategies to protect relatives from developing late-stage cancer.

Affordability and Accessibility:

Medicare will fund genetic testing for women newly diagnosed with breast cancer, if they meet the MBS eligibility criteria.  However, we know that many women who are not eligible for Medicare funded genetic testing, will be found to have a mutation in one of the breast cancer genes. The cost of self-funded genetic testing is currently around $350.00. If a mutation is found, testing for relatives is usually free.

An experienced genetic counsellor (GC) can assess a women’s eligibility for Medicare funded genetic testing and assist with arranging the test through a specialist. For women not eligible for Medicare funded testing, a GC can order self-funded genetic testing and ensure that the result is returned to the treating doctor as quickly as possible.

GC’s can explain the advantages, disadvantages, and limitations of genetic testing before a woman makes her decision whether or not to proceed with testing.

A genetic test result is usually available (from some laboratories) within 3 weeks of collecting the DNA sample.

The Expedited Genetic Testing Process:

At Tasman Health Care, we recommend that all women with breast cancer ask about genetic testing at the time of their diagnosis. The quickest way to obtain rapid genetic testing is to ask the breast specialist to order the test, or refer the patient to a genetic counsellor at the time of their diagnosis.

At Tasman Health Care, women with a newly diagnosed breast cancer can be seen within one week of their diagnosis to discuss genetic testing (if requested). Please don’t hesitate to contact us if you have any questions or want detailed information on the genetic testing process.

About the Author:

JAN WAKELING

Genetic Counsellor – BSc(Hons), MGenCoun, FHGSA 

Jan is a Genetic Counsellor, certified by the Australasian Society of Genetic Counsellors. Jan completed a Master of Science in Genetic Counselling in 2010 and has since worked as a genetic counsellor in Familial Cancer Clinics in Queensland and Western Australia. Jan has developed expertise in providing cancer risk assessments for women who have a family history of cancer, and in providing risk management advice for these women and their families. Jan has a patient focused approach to counselling and understands how difficult it can be for some women to access appropriate risk management in a timely manner. Jan is committed to providing information and support to women at an increased risk of developing cancer.