Women with a strong family history of breast cancer have a higher risk for developing the disease compared to the wider population. A strong family history means having at least two close blood relatives (eg mother, sister, daughter, cousin or aunt) on the same side of the family (mother's or father's) affected by breast cancer, often with their diagnoses occurring at a young age (less than 50).
The higher risk can be associated with inherited factors -- specifically, the presence of mutations in genes associated with breast cancer. Two known genes are BRCA1 and BRCA2. It is thought that inherited mutations in genes such as these account for 5% to 10% of all breast cancer. Even though inherited gene mutations can play a part in breast cancer risk, there are women with a strong family history (and a higher risk) who do not carry known gene mutations.
It is also important to note that most women who get breast cancer do not have a strong family history. Women can sometimes over-estimate their risk based on family history.
For those concerned about their strong family history or hereditary aspects of breast cancer, the issues can be very complex and challenging. The decision to undergo a test, for example, can result in the need for unanticipated communication with family members. There may be financial implications for the women seeking tests as well as others in their families. There may be concerns and fears about the potential for discrimination by employers and insurers. Some women undergoing tests feel that science and technology have enabled them to answer questions about breast cancer in their families. Others find themselves asking even more questions and facing even more difficult decisions. For more on these issues and challenges, see our background paper.
- Women concerned about their family history of breast cancer should have access to high quality information, advice and counselling to support them in their understanding and decision-making.
- Risk assessment and surveillance advice for high risk women should follow current best-practice guidelines as set out by Cancer Australia. Surveillance advice may include the option of genetic testing for inherited mutations in BRCA1 or BRCA2. Currently, Family Cancer Clinics or genetic cancer services are well placed to follow best-practice guidelines.
- Genetic testing -- if chosen by high risk women -- should always be accompanied by specialist genetic counselling before and after the test. Counselling should:
- include full disclosure of the benefits amd thel imitations of genetic testing prior to the test taking place
- ensure women are able to give their informed consent to the process
- be provided in a manner that is culturally and linguistically appropriate, with the use of qualified interpreters if required
- be accessible to women in rural and remote areas
- be affordable to women (preferably at no cost).
Test results should be available to women within a reasonable timeframe.
- BCNA acknowledges that genetic testing is a complex process that involves not only the women seeking knowledge about their risk but their family members as well. Genetic information revealed by test results is unusual in that it is shared by the individual and her family. A woman's wish for (and right to) privacy should nonetheless be respected by all parties concerned. There may, for example, be reasons not to share genetic information because of the impact on family relationships.
- Confidentiality of test results and security of genetic information obtained through testing procedures must be maintained by providers to prevent inappropriate use of such information.
- The marketing and sourcing of genetic testing through ‘direct to the public' advertising or online providers is strongly opposed by BCNA.
- The Federal Government -- through the Human Genetics Advisory Committee and its working groups - should be responsible for monitoring and responding to issues arising in breast cancer susceptibility gene testing. As part of its work, the Human Genetics Advisory Committee should ensure that:
- legal and other strategies are developed and implemented to minimise the fear and risk of discrimination based on genetic status
- effective strategies are developed and implemented to safeguard against the imposition of fees on public laboratories by patent holders/licensees of genetic testing methods
- any increases in demand for genetic testing services are met in timely and appropriate ways (e.g. through increased funding of Family Cancer Clinics)
- consumers are involved in policy decisions regarding genetic testing so that such technologies are equitable, safe, effective, and meet consumer needs.