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Partners HealthCare Launches New Genetic Risk Assessment Program for Breast Cancer in Bermuda

By the time she reached her 32nd birthday, Jane Smith* of Hamilton, Bermuda had lost her grandmother, her aunt and her sister to breast cancer. Given this familial history, Jane sought counseling and genetic testing from Dr. Kevin Hughes, a breast specialist at the Massachusetts General Hospital in Boston who has been studying hereditary cancers in Bermuda since 1998.

In an effort to help more women like Jane, and to decrease the morbidity and mortality from breast and ovarian cancers in Bermuda, Dr. Hughes and Partners HealthCare are pleased to announce the launch of the Bermuda Cancer Genetic Risk Assessment Program, which will identify, educate and support women who are at high risk of hereditary breast and ovarian cancer.

“Genetic testing is a critical new component in the fight against breast cancer,” commented Leslie Shane, MS, RN, Partners’ Health Services Manager for Bermuda, “Early detection and education can be lifesaving.”

“The Health Insurance Association of Bermuda is pleased to collaborate with Partners in the development of Bermuda’s first program for cancer genetic testing,” added Gina Bradshaw, the organization's president. “In order to benefit from the risk assessment program, interested individuals should obtain pre-authorization from a participating insurance company.”

Between four and eleven percent of the most common cancers – breast, ovarian, pancreas, colon – occur due to an inherited predisposition. Mutations in certain genes – known as BRCA 1 and BRCA 2 – make Bermudian women from particular families more susceptible to developing breast and ovarian cancer than the female population at large. Women who have this inherited risk are also more likely to develop cancer in their twenties and thirties, in contrast to the typical age range of sixty to seventy years for non-hereditary cancer patients.

“Our program is primarily a patient education and evaluation service,” explained Dr. Hughes. “When we determine that a patient is at high risk, we will develop a plan of care in collaboration with her local doctor. Genetic testing, earlier mammography, and more frequent clinical exams will all be considered, depending upon the needs of the patient. Our goal is to identify patients at high risk, and to then take measures to either prevent cancer, or find it at an earlier, more treatable stage.”

The Bermuda Cancer Genetic Risk Assessment Program will operate according to standards and guidelines set forth by the American College of Surgeons, the Commission on Cancer’s 2004 Program Standards, the National Cancer Institute and the American Medical Association. For more information, please contact Leslie Shane, MS, RN via email at lshane@partners.org or by phone at +1(441) 238-3620.

* The patient’s name has been changed to protect her privacy.

From the Executive Director’s Desk

While there’s no question that the internet has placed an unprecedented wealth of medical information within reach of many patients, online medical advice is not a panacea for our global shortcomings concerning patient education. Aside from the phony medical products and the dubious wonder pills being advertised in cyberspace, many patients make poor health choices due to information that they have gleaned online from pseudoscientific sources, or even from reliable sources, if the presentation is too technical for them to understand. If we are to improve health literacy internationally, never has the need been greater for context, for interpretation of research data, and most importantly, for resources that can filter out the fallacies and guide meaningful, self-directed health learning. Bermuda’s TB Cancer & Health Association is at the forefront of this movement. Our guest columnist is Judy Siddle-Simons, JP, the organization’s president.

Since its inception in 1945, The Bermuda TB Cancer & Health Association’s (TBCHA) vision has been “caring for the community.” As one of the oldest non-profit charities in the islands of Bermuda, the organization has continued to expand its role to address early detection, prevention and education of cancer and other health issues.

Bermuda is twenty four miles long, sitting in the middle of the Atlantic Ocean, isolated some would say, yet we are grateful that Partners offers a gateway to access outstanding global health care resources which in turn allows TBCHA to reach for new goals as we continue to “care for our community” and we look forward to continuing this partnership for the benefit of optimal health outcomes in Bermuda. – Judy Siddle-Simons, JP

Patient Interview: Sue Wale

Sue Wale, RN has worked for 30 years in the Emergency Room at Bermuda’s King Edward Hospital. Last year, she sought treatment for breast cancer through the Dana-Farber/Partners CancerCare Program in Boston.

Kevin S. Hughes, MD
Surgical Director for Breast Screening
Co-director, Avon Foundation Comprehensive Breast Evaluation Center
Massachusetts General Hospital
Assistant Professor of Surgery, Harvard Medical School

This year approximately 1.2 million women worldwide will be diagnosed with breast cancer, and over 400,000 women will die from the disease. With earlier detection, significantly higher cure rates are possible. The challenge is to identify and appropriately manage women at elevated risk. We already have in place a number of the pieces of this public health puzzle. We know what factors place a woman at higher risk, and we can offer strategies to help decrease her risk and/or to try to catch her disease at an earlier, more treatable phase.

Who is at elevated risk? Women at high risk include those who have a family history of breast or ovarian cancer and women with certain biopsy diagnoses. Women are considered to have a high-risk family history of breast cancer if they have some or all of the following characteristics.

• Multiple relatives with breast or ovarian cancer
• Relative 40 years of age or younger at diagnosis
• Relative with bilateral breast cancer or breast and ovarian cancer
• Male relative with breast cancer

We tend to lower the threshold of suspicion somewhat for women of Ashkenazi Jewish descent, because they are more likely than women of other ethnicities to carry the BRCA1 and BRCA2 genetic mutations associated with increased risk for breast and ovarian cancer.

Also, women who have a pathologic diagnosis of atypical hyperplasia or lobular carcinoma in situ are at elevated risk for breast cancer. They should be closely monitored and may benefit from more aggressive management.

At a specialized center like the Avon Foundation Comprehensive Breast Evaluation Center at Massachusetts General Hospital, our specialists not only identify and stratify risk, but also customize management strategies appropriate to each woman’s level of risk.

These may include:
Breast imaging. We work closely with Daniel Kopans, MD, Director of Breast Imaging at the Avon Center, and his colleagues to offer the most appropriate breast imaging techniques for each woman. For women at significantly elevated risk, we recommend changing the usual mammographic screening pattern and beginning yearly screening as early as age 25 instead of age 40.

MRI is quite sensitive in detecting breast cancer, but it also detects non-cancerous abnormalities as well, leading to more biopsies. Experts are considering how best to fit this imaging technique into our armamentarium. Currently, we offer MRI screening selectively, and almost exclusively to known mutation carriers. This practice may change as we gather more knowledge in the area.

More frequent physical examinations. For high-risk women, we often recommend a breast exam by a physician every six months.

Tamoxifen. We recommend prophylactic tamoxifen to patients with atypical hyperplasia or lobular carcinoma in situ. We discuss tamoxifen with women who have a strong family history, but it is less clear that the drug has a protective effect in this population

Prophylactic mastectomy. This may be an option for women with a known mutation of BRCA1 or BRCA2 gene. Even in this population, it is performed only under very selected conditions.

Ovarian cancer. Women with a genetic susceptibility to breast cancer are also at increased risk for ovarian cancer, so we recommend a number of screening and preventive options to address their risk for ovarian cancer, as well. These include use of oral contraceptives, which are very effective in decreasing the risk of ovarian cancer; screening with transvaginal ultrasound and CA-125 blood levels, although these lack optimum specificity and sensitivity; and prophylactic oophorectomy for mutation carriers.

Genetic counseling. Genetic counseling can be a useful tool in risk assessment. My colleague Paula Ryan, MD, PhD, Medical Director of the Breast and Ovarian Cancer Genetics Program at the Massachusetts General Hospital Cancer Center, says genetic counseling should be considered in women with a family history of the disease. Genetic testing may be offered as part of the counseling process and is useful in further stratifying women at risk and identifying appropriate management strategies. Genetic counseling services are available through the Cancer Center’s Center for Cancer Risk Analysis.

Population-based identification and management. Clearly, we have the tools to identify women at elevated risk for breast cancer and can offer a number of screening and preventive options. The larger challenge will be applying those tools. As part of the care at the Avon Center, family history is taken when a woman has a mammogram. We are trying to determine how best to use this information to provide patients with more precise risk stratification and to advise patients as to the need for more intensive screening or more aggressive management.

To apply this process to the entire population of women in a clinically useful way will be a huge undertaking. We will need to find ways to identify women who do not have mammograms. We will need to find the best ways to get information regarding her personal risk stratification back to each patient. If the patient requires further management, we will need to identify the best ways to involve her PCP in her continuing management. And we will need to find ways to deal with the sheer volume of women who require more screening, more counseling, and more treatment.

We are poised to embark on a study with four or five primary care practices to begin to answer some of these questions. If we can describe a population-based process for identifying and managing women at high risk for breast cancer, it will undoubtedly save lives. In addition, it may be a useful model for wide-scale screening for other cancers, as well.

Physicians at Brigham and Women’s Hospital and the Dana-Farber Cancer Institute also offer care for women at elevated risk for breast cancer.

According to the World Health Organization, coronary artery disease (CAD) is one of the leading causes of death worldwide, accounting for 17 million deaths per year. Although it was once considered a “western disease,” today more than 60% of cases occur in developing countries.

While a number of non-invasive diagnostic tests, such as nuclear scanning and echocardiography, provide valuable information about the heart and coronary arteries, the gold standard for the detection and evaluation of CAD is coronary angiography, which is performed nearly 1.5 million times a year in the U.S. Despite its undisputed clinical value, coronary angiography is costly, invasive, and poses some risks, therefore it is indicated only for patients determined to be at high risk for CAD.

A NON-INVASIVE ALTERNATIVE
Because early detection and treatment of CAD can significantly reduce morbidity and mortality, there has been an ongoing, widespread interest in finding a non-invasive alternative to coronary angiography that is equal to, if not better than, the current gold standard. The modality showing the greatest promise is cardiac computed tomography (CT).

When the first CT scanners were introduced into clinical practice in the 1970s, cardiac imaging was not feasible, as the time required to acquire an image—approximately five minutes—ruled out a motionfree image of the heart and coronary vessels.

Over the ensuing decades, CT technology has improved dramatically. High spatial and temporal resolution—which are required for clinically useful cardiac imaging—have been achieved with the introduction of multiple rows of detectors (from 4 to 16 and, most recently, 64), faster gantry rotation, and sophisticated ECG cardiac-gating techniques.

Massachusetts General Hospital recently became the first hospital in New England to acquire and begin using a 64-slice, multi-detector CT (MDCT) scanner, which is used exclusively for the evaluation of cardiac patients. This state-of-the-art technology virtually freezes the heart’s detail and clarity. This is achieved in a single breathhold with a scan time of just 8-12 seconds, a radiation exposure equivalent to a chest CT scan, and a door-to-door time of approximately 15 minutes.

Indications
Presently, the indications for the use of Mass General’s 64-slice cardiac CT scanner are to:
• rule out significant CAD (e.g., as part of a routine pre-operative exam) in patients with low and regular heart rates
• rule out CAD in patients with atypical chest pain and an intermediate risk of CAD
• evaluate patients with inconclusive ECG stress tests
• visualize anomalous coronary arteries
• establish the patency of bypass grafts
• visualize the cardiac anatomy for congenital malformations, pulmonary venous return, and masses
• detect and quantify coronary plaque

Exclusion criteria
• arrhythmias
• pregnancy
• impaired renal function
• allergy to the iodinated contrast agent
• myeloma

Although not yet established through clinical trials, it is anticipated that as a result of earlier diagnosis and treatment, cardiac CT will reduce morbidity and mortality among patients with suspected CAD.

A role in patient management
Current evidence suggests that cardiac CT may also have an important role in the management of patients with established CAD. It is the only non-invasive technique in widespread clinical use that can obtain information about the amount and composition of plaques in the coronary arteries, which are the cause of most acute coronary events. Thus, cardiac CT could become a valuable tool for evaluating patients who have had a mild myocardial infarction to determine whether they are candidates for aggressive treatment aimed at reducing their risk of a subsequent coronary event or sudden cardiac death.

Investigators in the Massachusetts General Hospital Department of Radiology and Division of Cardiology have been actively involved in cardiac CT research during the past five years, and have published numerous papers on their work (see Selected References). Research currently under way by this group is focused on a variety of new potential applications for cardiac CT. These include functional studies of myocardial perfusion and the role this technology may play in triaging ED patients with acute chest pain.

Undoubtedly the applications of cardiac CT will increase as investigators at Mass General and elsewhere continue to study its potential and as the technology continues to improve. But there is no question that this state-of-the-art technology is already having a major impact on patient care.

SELECTED REFERENCES
Hoffman U, Moselewski F, Cury R, Ferencik M, Jang I, Diaz L, Abbara S, Brady T, Achenbach S. Predictive value of 16-slice multi-detector spiral CT to detect significant obstructive coronary artery disease in patients at high risk for CAD: patient vs. segment-based analysis. Circulation 2004; 110:2638-2643.

Achenbach S, Moselewski F, Ropers D, Ferencik M, Hoffman U, MacNeill B, Pohle K, Baum U, Anders K, Jang I, Daniel W, Brady T. Detection of calcified and non-calcified coronary atherosclerotic plaque by contrast-enhanced, submillimeter multidetector spiral CT:
a segmentbased comparison to IVUS. Circulation 2004;109:14-17

CONTACT INFORMATION
Thomas J. Brady, MD
+1 (617) 726-8313
tom@nmr.mgh.harvard.edu
Other Massachusetts General Hospital physicians who are actively involved in cardiac CT clinical research are Suhny Abbara, MD, Ricardo C. Cury, MD, and Udo Hoffman, MD.

CME Course on Cardiac CT The 6th International Conference on Cardiac CT will be held in Boston on July 22-23, with an introductory program the evening of July 21. The course directors are Thomas J. Brady, MD, Suhny Abbara, MD, Udo Hoffman, MD, Stephan Achenbach, MD, and Willi Kalender, PhD. This course (# 00251492) will offer a comprehensive review of the methodological issues and clinical aspects of CT imaging in cardiac diseases. For more information or to register online, go to www.mghcardiacct.org.

Jim Yong Kim, MD, PhD has resumed his position as Chief of the Division of Social Medicine and Health Inequalities at Brigham and Women’s Hospital (BWH) following a three-year posting at the World Health Organization (WHO), where he served first as Senior Advisor to the Director-General on HIV/AIDS and then as head of the HIV/AIDS Department. Dr. Kim was recently named to the Time 100, which is Time magazine’s annual listing of “men and women whose power, talent or moral example is transforming our world.”

After a decade of providing free health care to street children in La Paz, Bolivia, former MGH resident Chi Cheng Huang, MD has written a book about his experiences. When Invisible Children Sing will be published this fall by Tyndale House. For more information or to purchase a book, please visit www.bolivianstreetchildren.org.

Partners International Program is pleased to sponsor its 3rd Cardiovascular Conference on December 13-15, 2006 in Dubai, United Arab Emirates. Over 350 physicians are expected to attend from Turkey, the Middle East and Africa. This conference is supported by an educational grant from Pfizer.

Brigham and Women’s Hospital has launched a special collaboration with the Centro de Obras Sociales and the Maternidad Hospital in Chimbote, Peru. Sponsored by the Volunteerism Committee of the BWH Physicians’ Council, this project encourages BWH clinicians to contribute their time in Chimbote and supports the local health care infrastructure with equipment donations and financial assistance. To read more about this project, please visit Postcards from the Field on our website.”

Partners Telemedicine Director Joseph C. Kvedar, MD is an editor of a new book entitled Home Telehealth: Connecting Care Within the Community. Published by the Royal Society of Medicine in London, Home Telehealth provides a comprehensive review of the medical treatments that can now take place in the home due to advances in telemedicine technology, including disease management and wellness programs, home monitoring capabilities, and the use of consumer electronics to connect patients with clinicians. To read an excerpt from the book or to purchase a copy, please visit www.connected-health.org.

This publication provides medical news. It is not intended to provide medical advice, which should always be obtained directly from a physician. To subscribe, request additional copies or make comments, please contact us via email at partersinternational@partners.org or by phone at +1 (617) 724-6420.

©2006. Partners HealthCare System, Inc.