A family secret... that could be a killer

You'd want to know if you had a cancer gene. But would you be told?

Caroline Rich learnt last February that the lump she found in her right breast was cancerous. She was 28 years old when the diagnosis was confirmed. Upsetting as the news was for someone so young, it was not as shocking as what happened next. She discovered that what had caused her cancer had been known to doctors and other family members for some years. But no one had thought to tell her. Her mother had developed ovarian cancer at 33 and died at 39. So the disease and the catastrophic damage it could wreak was something she had grown up with.

Caroline Rich learnt last February that the lump she found in her right breast was cancerous. She was 28 years old when the diagnosis was confirmed. Upsetting as the news was for someone so young, it was not as shocking as what happened next. She discovered that what had caused her cancer had been known to doctors and other family members for some years. But no one had thought to tell her. Her mother had developed ovarian cancer at 33 and died at 39. So the disease and the catastrophic damage it could wreak was something she had grown up with.

Her first operation involved the removal of the lump from her breast and four of the lymph nodes under her arm. Tests revealed that the cancer had spread to one of the lymph nodes - so the remainder had to come out in a second operation. This is what Rich is most resentful about. Luckily, no other lymph nodes were affected, which was a relief because it meant the cancer had not spread beyond the first layer. But she is now left with a swollen arm because, with the lymphatic system removed, she has no drainage from the limb.

Had the cancer been detected earlier, Rich might have avoided the second operation. And had she had access to her family's medical history, there is every reason to think she would have been diagnosed earlier. The missing detail from Rich's medical history was only revealed after her consultant recommended she should have a genetic test, given the way cancer had struck herself and her mother at a young age. It was while waiting for the results that she learnt that a similar test had been carried out on another branch of the family several years earlier, which had established that her grandmother carried a faulty gene. Two of Rich's cousins, she discovered, had also had cancer before they were 30.

Last month, the genetic test confirmed that Rich carried a gene fault, which is almost certainly the same as that carried by her grandmother. Her mother, who died almost 20 years ago, probably carried it and her sister is now having the same test.

All this might have been revealed sooner - and Rich's cancer detected earlier - had a mechanism been established for disseminating the results of genetic tests to all those who may be affected by them. People who carry the genes for breast cancer - BRCA1 and BRCA2 - have an 80 per cent chance of developing the disease at some point.

Rich is angry that while scientific advance means people with a genetic susceptibility can be identified so that they can take steps to protect themselves, no thought appears to have been given to ensuring that the information reaches those who need it. "My consultant estimated I'd had the cancer for between a year and 15 months when it was diagnosed," she says. "I found it as early as was physically possible by examining myself. But if I had known about the genetic fault, I would have had a blood test every four months for ovarian cancer and a mammogram every year for breast cancer."

Geneticists agree that something must be done about the sharing of genetic information. The law, framed in the Human Tissue Act, prevents disclosure without the consent of the patient being tested. A spokeswoman for the Department of Health said patient confidentiality was paramount. "A doctor must never override the duty of confidentiality. There is no responsibility on the doctor to inform anyone else of that condition. They might want to counsel the patient to think about telling other family members, but there can be no compulsion." But she conceded that a doctor might want to seek legal advice in a case where he or she felt genetic information was being withheld from family members unjustly.

The Human Genetics Commission (HGC), which advises the Government on genetic testing, said that confidentiality and consent should remain the cornerstones of the law. But in a report, "Inside Information: Balancing interests in the use of personal genetic data", published in 2002, it says: "Disclosure of sensitive personal genetic information without consent may be justified in rare cases where a patient refuses to consent to such disclosure, but the benefit to other family members ... outweighs the need to respect patient confidentiality."

Frances Flinter, the consultant clinical geneticist at Guy's and St Thomas' NHS Trust, says it was usually possible to persuade families to inform relatives, but adds that the law was unclear over where responsibility for passing on information lay - with the family or with the clinician. "It won't be fully resolved until a case goes to court," she says.

James MacKay, the consultant clinical geneticist treating Rich, said it was impractical to compel doctors to chase up contacts because some families were too large. He favours the establishment of a central register, with consent, which family members who suspect they might be at risk could consult.

For Rich, the priority now is to get on with her life. She has completed the fourth of eight courses of chemotherapy, which will be followed by radiotherapy. Hers is an aggressive cancer that is being met with aggressive treatment. But it has left her drive and determination untouched. She is still working, still travelling and still planning her future with her boyfriend. "I don't want to lie around at home in fluffy slippers with my hand on my head. Cancer is about the mind, as much as the body. If I can lead a normal life, I have it - it doesn't have me."

Caroline Rich is taking part in a 60km sponsored walk for Breakthrough Breast Cancer from 23-25 September. To donate, visit www.breakthroughweekend.org

Need to know

* Two key genes are known to be involved in breast cancer: BRCA1 and BRCA2

* Inheriting a copy of either of these genes mean a woman has an 80 per cent chance of developing breast cancer before the age of 70, as against a chance of around 10 per cent chance for other women

* Only a small percentage of breast cancers are linked to BRCA 1 and 2. So gene testing is only recommended for women with a strong family history of breast cancer - two close relatives who had the disease, or one who developed it very young

* Identifying the gene gives women the option of more frequent screening or even removal of the breasts to prevent cancer occurring

* Scientists have also found genes linked to bowel, uterus and ovarian cancers, but the link is weaker than with breast cancer