This paper highlights the need for carriers to be followed up by health professionals who understand the complexities of the BRCA syndrome. A BRCA carrier clinic has been established in London and regular follow up is an essential part of the care for families. An open door policy has been set up for patients who may meet or telephone the cancer genetic nurse specialist for support and care at any time. An example of the follow up work is discussed in the format of a case of a young woman with a BRCA1 alteration who developed a primary peritoneal cancer following prophylactic oophorectomy. This case illustrates the work of the multi-disciplinary team caring for BRCA carriers.
Keywords:BRCA; carrier clinic; prophylactic oophorectomy; support; multi-disciplinary
Families who harbour deleterious genetic alterations in a BRCA gene react differently according to their situation. Health professionals provide time and understanding within the genetic testing programme to help individuals consider their options before proceeding to genetic testing. Once the test result is confirmed, the affected person may consider new prevention options to reduce the risk of another cancer developing. These options may be discussed with the medical team who are trained in oncology and genetics. Patients who are gene mutation carriers and who have developed cancer have a risk to develop further primaries. Gene carriers who have developed cancer are managed under different units with specialists who may not have an in-depth understanding of the BRCA syndrome.
The BRCA gene mutation carrier clinic of the Royal Marsden Hospital/Institute of Cancer Research has a threefold purpose :
1. Ongoing support of gene carrier families and patients. Annual appointments are made for these patients as well as access to a ''virtual telephone clinic''. The latter clinic is run by the nursing team who are trained in oncology and genetics and who probably know the family well.
2. Clinical management issues: Discussions related to further surgical prevention procedures i.e. mastectomy, prophylactic oophorectomy. All information is given in the light of the current research.
3. The opportunity for family members to participate in research. Within the Carrier Clinic of the Royal Marsden Hospital/Institute of Cancer Research there are several ongoing collaborative studies (as shown in Figure 1) and patients have the options to be involved in studies after full informed consent.
There are nearly 200 patients who have BRCA gene mutations who are participating in this clinic. For some people, years later, the effort of attending a clinic diminishes its attraction, especially if they are unaffected and have chosen prophylactic surgery as an option. A ''virtual'' clinic has therefore been established as part of the ''carrier clinic''. This means that there is ''telephone availability'' for follow up. This telephone service is managed by the nurses within the unit. It offers regular follow up support and access for gene carriers who are worried about their medical health. The service involves discussions with nurses who are trained in oncology and genetics and who have experience in working with BRCA gene mutation carriers.
Families with mutations in the BRCA genes know that they can contact the ''virtual clinic'' at any time for support or advice. Medical matters are acted on immediately via a link with the Consultant in charge. If a patient is already under another unit/hospital, then contact is made with the appropriate medical person accompanied by a follow up letter and appropriate investigations. In some instances, preliminary investigations such as blood tests are arranged before referral thereby providing maximum information for the specialist.
This following case is illustrative of the virtual clinic and the referral process.
The Case of Mrs X
Mrs X is a known BRCA1 mutation carrier. She was keen to be tested as so many of her female relations had died prematurely from cancer. Information from another centre provided her with the knowledge that there was a deleterious mutation present in the BRCA1 gene in her family. At the age of 33 she underwent predictive genetic testing and had several sessions with the Clinical Nurse Specialist and the medical team before deciding to proceed. The testing showed that she carried the pathogenic mutation identified in her family. After serious consideration, she decided to undergo prophylactic ovarian surgery. This she hoped would reduce her life time risk of ovarian cancer of 50% by about 96% and reduce her risk of developing breast cancer by 50% . After serious consideration following several counselling sessions, she was referred to the gynaecologist for discussions on risk reducing surgery. She had a medical history of endometriosis and decided along with her gynaecologist to have a total hysterectomy as she was troubled by menstrual problems. Furthermore, she had two children and was adamant that she did not wish to have any more children. This operation was successful. She was followed up in the breast unit for annual screening. As part of the "virtual clinic" for gene carriers, ongoing support was available for this young lady who had a limited family support structure. On one of the regular follow up calls, she sounded depressed and was therefore invited in to the nurse who led follow up clinic. During this session, she informed the nurse that she was feeling tired and "not herself". This young lady was known well to the nurse through the predictive genetic testing programme. The nurse was concerned that there maybe something medical that needed serious consideration. Furthermore, as part of the BRCA clinic protocol, patients who have undergone prophylactic oophorectomy are offered a CA125 test with the knowledge that this test's predictive value in this situation is uncertain. In this particular case, the Consultant and the nurse were in discussion about the management of this young lady and a CA125 test was arranged along with a few other blood tests.
The CA125 result was elevated (130). A transvaginal ultrasound scan and another CA125 test was arranged along with an appointment to the gynaecology clinic. Unfortunately, this young woman was found to have an early stage primary peritoneal cancer. She has undergone intensive chemotherapy and is currently being followed up in the onco-gynaecology unit for her cancer care. As well, there is ongoing genetic support for this young woman when needed. She continues to be followed up in the breast unit for breast screening.
The ongoing follow up for this young woman as part of the Carrier Clinic has shown the benefits of this follow up service both from a medical management perspective and a psychological support service. It is essential that there are professionals who understand the BRCA syndrome in the fullest sense, including both genetic and oncological perspectives and the possible associated further cancer risks. As it is such a specialist area of knowledge, the patient is well served with qualified professionals who will liaise with the appropriate health professionals.
We would like to thank Professor Martin Gore and his team; Mr D Barton and his team.
Eur J Cancer Care 2002, 11(1):63-68. Publisher Full Text
Rebbeck T, Lynch H, Neuhausen S, Narod S, van't Veer L, Garber J, Evans G, Isaacs C, Daly M, Matloff E, Olufunmilayo I, Olopade M, Weber B, for the Prevention and Observation of Surgical End Points Study Group: Prophylactic Oophorectomy in Carriers of BRCA1 and BRCA2 Mutations.