The doctor leading a pioneering project to track and treat all women in Bermuda who are at high-risk of carrying hereditary genes linked to breast and ovarian cancer hopes the Island will become an example to the rest of the medical world about what is possible using a systematic approach. Dr. Kevin Hughes recognises the Island has a uniqueness because of its small size, its centralised medical records and relatively stable population allowing him to carry out medical research and clinics not possible in other countries such as the US. But the potential benefits of success through the Bermuda initiative ? which got under way with the first quarterly clinic last week ? could reach to the rest of the world. Dr. Hughes explains how the project will work and what he hopes it will achieve.

Earlier this year Dr. Hughes, breast cancer specialist at Massachusetts General Hospital in Boston, spoke of his intention to begin holding medical clinics on the Island every three months specifically to identify women most at risk of carrying hereditary genes that can cause breast and ovarian cancer.

By using the latest screening technology it is possible to find these women and to give them treatments likely to reduce or even eliminate their risk of developing the cancers.

Dr. Hughes trained as a general surgeon and did a fellowship on oncology, looking at cancer surgery.

He explained: ?Having done that for a number of years I found more and more of my patients were breast cancer patients and so I began to work in breast cancer and breast disease as my speciality.?

With an interest also in how to prevent breast cancer by identifying high-risk individuals his first ?risk clinic? in the US was set up in 1995 and virtually coincided with the identification of the BRCA1 gene, which has a very high-risk of developing breast or ovarian cancer.

?So it was somewhat fortuitous that as I was setting up a clinic to look for high-risk patients the genetic test became available to identify these people better.?

Expanding on the reasons why Bermuda has a uniqueness that allows for the methodical identifying of potential hereditary mutation gene carriers, he said: ?I have been doing this for some time in the States, but what happens in the States is that a patient with a strong family history might be selected or found and then sent to us for consultation.

?In Bermuda we have the opportunity to go back to the tumour/central registry and identify these high-risk patients from an opposite route. Rather than the patient try to figure out her family history and then come to us we can identify patients with cancer who look like a strong family history group and then go backwards to find the family members.

?That is something we can do in Bermuda that we can?t do in the States. In the States one family member might get treated at Massachusetts, another in Ohio, another in California ? all in different registries, none of them linked together.?

The stumbling block of confidentiality of patients? medical records in the US and other countries makes the linking-up of patient and family medical records across different jurisdictions a ?hot topic.?

Bermuda?s single medical registry and its single hospital bypass this hurdle, in addition to its relatively stable and ?very highly educated population with very good medical care? make it an ideal place for the research and treatment clinics, according to Dr. Hughes, hence the belief that all the ?at risk? women on the Island will eventually be identified.

?When I initially came to Bermuda the possibility of identifying high-risk individuals was very enticing; that idea of going to the registry to contact women who had had cancer and gain their family histories ? which we have done.?

Of 400 questionnaires sent out at the beginning of the project around 300 were returned, an impressive response rate Dr. Hughes does not believe could have been achieved anywhere else.

He recognises Bermuda?s small population size makes it hard to justify having full-time experts in this field based here, but he has taken the opportunity to hold part-time clinics on the Island every three months.

At the clinics an assessment is made of the likelihood of a woman having inherited a cancer-causing gene mutation based on cancer occurring with her family.

Once identified as being high-risk it is up to the woman how far she wishes to go with further genetic testing and then on to preventative medication and surgery if necessary.

Through advancements in genetic knowledge experts in Utah will study a blood sample from a high-risk woman in Bermuda and compare the DNA structure with known hereditary cancer-causing characteristics.

Dr. Hughes points out the clinics being held in Bermuda are standard clinical care, adding: ?I?m looking at this as the ultimate in standard of care. While we are interested in learning from this and research the basic things we are doing are the things that we say we should be done for everybody. We are testing whether it is possible to identify every high-risk individual in a country and I think in this country we probably can.

?Then, if we identify them and change their management, does it make a difference in how they do in the long run? We believe it will but we are going to find that out.?

On the question of how many high-risk women are there in Bermuda, the answer is not yet known but an early guess at ?several hundred? seems a reasonable estimate, said Dr. Hughes.

?About five to ten women per year who develop breast or ovarian cancer will be from these heredity families. We are hoping to either prevent those five or ten cancers per year or find them at an earlier, more treatable stage.?

At the first two-day clinic only one woman out of nine was found to be genuinely high-risk. Dr. Hughes said: ?Eight of those patients had a family history but it was not strong enough to recommend genetic testing, so they came away quite happy that the risk was not as great as they thought.?

One woman was found to be definitely part of a heredity family. Efforts have begun to arrange for the rest of her family to come to the next clinics in January and April when Dr. Hughes will be looking at how to do genetic testing or ?changing management? for that family.

Explaining this, he said: ?In this family, one member already had genetic testing and been shown to be positive so we know there is mutation in that family.

?A number of the other family members have not been tested yet so what we plan to do is, through the woman we spoke with, contact other family members at risk and invite them to call for a consultation.?

Families will be offered the opportunity to come along as a group or individuality to be given information and then meet on individual basis to consider their treatment options.

Dr. Hughes said: ?In the average family half the women will be at risk and half not. This is a genetic mutation passed along from fathers and mothers.

?So in these families every single woman believes she is high-risk and we would previously have to manage every woman the same way with intensive screening, possible chemo-prevention, possible surgery.

?Instead by actually doing genetic testing we can say ?this half of the women are at risk and the other half go back to the population risk?.?

Being able to allay the anxiety of women in families known to carry the hereditary cancer genes by showing them they have not inherited the gene is amongst the positive benefits of the testing. What are the options for the women found to be at high-risk? ?For those individuals we recommend beginning yearly mammography checks at age 25 (normally it is 40). We recommend magnetic resonance imaging (MRI) to look for breast cancers earlier.

?MRI is a bit better than mammography in this specific high-risk population, although not in the general population,? said. Dr. Hughes.

?We recommend a drug called Tamoxifen, which is an anti-oestrogen and helps decrease breast cancer risk selectively amongst this high risk group. And in the very highest risk individuals we discuss the possibility of removing the breast to prevent cancer but that?s a very selective process.?

To decrease the chance of ovarian cancer Dr. Hughes? recommendations include the use of contraceptives, ovarian screening and removal of the ovaries in women with the gene mutations ?as soon as they no longer need them for child bearing.?

If breast cancer is found early enough the successful cure rate is high, somewhere in the 80 to 90 percent range.

Dr. Hughes said: ?The problem we run into is that the average patient is not told to get a yearly mammogram until the age 40 and that works fine for patients who are not high-risk but for high-risk patients means a significant proportion of the cancers are missed by waiting that long.?

And what about breast cancer in men? According to Dr. Hughes the risk is not high enough to warrant mammography, but he added: ?It is important to remember men can pass this gene along as much as women, so we want to be sure people know their family history on their father?s side as well as their mother?s side.

?Men do a poor job of telling their family history to their daughters so we have got to get better at that.?

To keep the cost to a minimum for patients Dr. Hughes is donating his time for the clinics so there are no consultation fees.

Bermuda TB Cancer and Health Association is providing space for the clinics at no charge, while the Health Insurance Association of Bermuda is supporting Dr. Hughes travel costs and expenses and there is further support from Partners Healthcare. How successful the programme will be has yet to be gauged.

?Within a year we should have an idea of how successful it is at identify women at high-risk In terms of outcome that?s going to take many more years,? said Dr. Hughes.

But the Bermuda initiative potentially opens the door to similar diagnostic methods and screening for the early detection and treatment of other hereditary cancers such as melanoma, colon cancer and even diabetes, he believes.

The interest created by the new clinic has been promising with significant numbers of women reportedly coming forward requesting to be assessed.

Leslie Shane, Partners? Health Services Manager in Bermuda, said the clinic had taken many calls from women wishing to set up time with Dr. Hughes and those coming forward would be given preliminary screening.

?Women are excited about the programme and knowing they can come and talk to a world-class physician for free,? she said.

Of those women who have already attended the clinic, she said two had left shedding tears of relief at discovering they were not in the high-risk category. ?There were teary-eyed because they had had this burden of worry lifted from them,? she said.