Where there is a significant family history of breast cancer and ovarian cancer – perhaps where female relatives have developed these cancers in their 20s and 30s - women are rightly concerned that they may be at risk. Sometimes these women seek a referral from their GP to a Specialist Familial Cancer Clinic to try to obtain increased checks and surveillance to catch any breast cancers early.
Depending on certain criteria, these women may also be eligible for referral to a Genetics Clinic for counselling about whether they are likely at increased risk of developing cancer due to their family history and genetic factors.
However, even where a woman receives genetic counselling, she may still not be able to access genetic testing. First, even if she has many female relatives who have died from breast and ovarian cancer, if she has no living relatives with cancer, she may not be eligible for testing. This is because national guidelines stipulate that living relatives with cancer should be tested for the BRCA gene mutation, rather than the woman who wants to check her own genetic risk.
Second, while her family history may be taken into account, a risk assessment calculation is undertaken that generates a percentage risk for that woman having a genetic factor that increases her risk of breast and ovarian cancer – the BRCA gene mutation. This risk assessment uses BOADICEA or the Manchester Scoring System. Unless the risk generated by these calculations is above 10 per cent (per the NICE Guidelines 2013), a woman will not be eligible to have genetic testing for the BRCA gene mutation on the NHS.
The problem many women encounter is that when they are told they are not eligible for the mutation test on the NHS, they are rarely advised that they can have the test privately – something that is easily accessible and would provide them with certainty as to whether or not they are at increased risk of developing breast or ovarian cancer.
As a result, a number of young women with strong family histories of breast and ovarian cancer who are denied testing on the NHS then believe their risk is low, or that they have no other options to investigate that risk. Some of these women will go on to develop breast and ovarian cancer at which stage, ironically, they are entitled to the BRCA gene test on the NHS where they discover they do indeed have the BRCA gene mutation.
Not being advised that the BRCA gene test is available privately deprives many women of the opportunity to find out they are carriers of the mutation before they develop cancer. Timely knowledge allows women to make informed choices about preventative surgery to significantly reduce their risk of developing these cancers, and ultimately saves lives.
Find out more about cancer misdiagnosis claims.
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