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In post Since 2004
Location Betsi Cadwaladr University Health Board, Clinical Genetics, Glan Clwyd Hospital, Rhyl
Contact Email Julie|.
People sometimes think they have an increased risk of developing cancer if there are several cases of cancer in their family. But only a small minority of breast, ovarian and bowel cancers (5–10%) are due to an inherited faulty gene. One in three people will develop cancer, so it’s going to be rare that someone doesn’t have cancer in the family.
The service was set up in 2000 with support from Macmillan. Focus groups were held with GPs, specialists and geneticists, and referral guidelines were drawn up from these. If a family fulfils the guidelines for increased risk, they are referred to the service, which includes a consultant geneticist, an associate specialist, a family history coordinator, admin support and myself. There are three sites across Wales, and together, we had around 2,500 referrals in 2010.
When a family is referred to us, we send out a questionnaire and then draw up a family tree. We assess the risk in the family, ranging from average risk (where the risk is the same as for the general population), moderate risk (where there is more cancer in the family than you would expect) to high risk (the 5–10% mentioned earlier). People with an average risk are invited to contact us if they have any questions or concerns, or if their family history changes.
For those assessed as having a moderately increased risk, we may, for example, suggest they have regular mammograms early or advise on the frequency of colonoscopy if there is bowel cancer in the family. People at a high risk are invited to come into the clinic and discuss what this means for them and their family.
We may suggest screening above that offered to the moderate risk group. In some families we may also discuss the option of genetic testing. Support is open-ended for as long as the family need it.
It requires a blood sample from a relative with cancer, but in some cases that person may have died or be very unwell. For those in palliative care, it can be one of the last things they can do for their family. People with cancer have a lot to cope with, so it needs to be sensitively handled.
Having a genetic blood test has implications not only for the person giving the sample, but also for their relatives. Some people don’t want to know the risks while others do. We help support patients as they have these discussions with their relatives and make difficult decisions. It can cause tension, but most families pull together.
If a gene alteration is found, then a test is available for other family members to find out whether or not they have inherited the alteration and the associated risks. A family member may find out that they haven’t inherited the gene alteration and that their risk isn’t increased. But if they do have the gene alteration, they may think about screening or surgery, for example, having a mastectomy to bring their risk down. Again, we support people making these decisions.
The challenge is to give people an accurate assessment and make sure they understand the possible implications and options available for them to manage their risk. We also support communication within the families that are referred to us.
In 2008, we held three open days for patients across Wales, with support from Macmillan for our event in Llandudno. From this, we established a patient panel.
One of its first tasks was to look at our questionnaire and how to make it more user-friendly. We also invited interested patients to share their stories. One patient said, ‘I felt like the burden had been lifted,’ which is what we hope we can do. Sometimes it can be the first time someone has been able to talk about their worries. The stories are available at the Cancer Genetics Story Bank website|.
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