INCA-ASCO Forum on Hereditary Cancer and Genetic Predisposition to Cancer
Hereditary cancer syndromes and genetic predisposition to cancer were the subjects of a Forum jointly sponsored by Brazil’s National Cancer Institute and the American Society of Clinical Oncology.
By Leigh J. Passman, MD, PhD
The INCA-ASCO Forum on Hereditary Cancer and Genetic Predisposition to Cancer
– held November 21 and 22, 2011 in Rio de Janeiro, Brazil – brought together national and international experts in hereditary cancer and cancer genetics with officials from Brazil’s public healthcare system in a scientific forum organized by Brazil’s Instituto Nacional de Câncer (INCA) in partnership with ASCO.
Brazil has a publically financed and administered universal health care system – called the Sistema Único de Saúde (SUS) – but the system has been slow to incorporate genetic counseling and genetic testing services, including services for individuals and families with a genetic predisposition to develop cancer.
In 2006, Brazil’s Ministry of Science and Technology funded the establishment a National Familial Cancer Network, which established a network composed of clinical cancer genetics services and cancer genetics laboratories at universities, teaching and philanthropic hospitals, and research institutes. Most of the genetic counseling of families with histories of cancer is delivered in these academic centers and most of the genetic and molecular testing is done by university laboratories using research and training grants.
The INCA-ASCO Forum served as an opportunity for the leadership of Brazil’s National Cancer Institute and officials from the Ministry of Health to hear directly from medical geneticists and cancer genetics researchers about the state of clinical cancer genetic services and genetic and molecular testing in Brazil.
Four cases of hereditary cancer syndromes – thyroid cancer (MEN 2), breast cancer (BRCA1), colon cancer (Lynch Syndrome), and a Brazilian variation of Li Fraumeni Syndrome (R337H) were presented by medical geneticists and clinical and surgical oncologists from various clinical cancer genetics services that are participating centers in the familial cancer network.
Two ASCO members, both of whom are clinical oncologists and medical geneticists, Dr. Jeffrey Weitzel, chief of Clinical Cancer Genetics at the City of Hope Medical Center in Duarte, California, and Dr. Stephen Gruber, now director of the Norris Cancer Center at the University of Southern California in Los Angeles, California, participated in the Forum with support from ASCO. Both have edited or contributed chapters to ASCO Curriculum.
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In general, hereditary cancer syndromes are thought to account for 5-10 percent of all cases of cancer. In Brazil, where 385,000 new cases of cancer are expected in 2012 (not counting non-melanoma skin cancers), some 20,000 to 40,000 new cases per year are likely the consequence of a genetic predisposition.
Of the hereditary cancer syndrome cases presented at the INCA-ASCO Forum, the case of a large family with a Li Fraumeni-like Syndrome – a syndrome attributed to the R337H mutation in the TP53 gene first described in Brazil – garnered the most attention. A cluster of adrenocortical carcinoma cases in infants and very young children in the state of Paraná several years ago led state public health authorities to support systematic screening for the R337H mutation in newborns in that state. Data from this screening effort and other studies suggest that the prevalence of the R337 mutation is 0.3 percent (3 in 1000) in several southern Brazilian states.
Dr. Maria Isabel Achatz, a medical geneticist at the A. C. Camargo Hospital in São Paulo, and Dr. Pierre Hainaut, formerly chief of the Carcinogenesis Laboratory at the International Agency for Research on Cancer (IARC) presented data about the clinical manifestations of this mutation – which include at least eight types of cancer including adrenocortical tumors, breast cancer, soft tissue sarcomas, and CNS tumors – and the current understanding of how a single mutation in the p53 protein can be the biological basis for so many different tumor types.
Dr. Hainaut also emphasized the public health imperative implicit in these findings. R337H and other hereditary cancer syndromes contribute to the overall cancer burden in Brazil, but because mutations carriers tend to develop their cancers at a younger age, the identification of families with carriers permits surveillance and early detection of tumors and, in some cases, risk-reducing prophylactic surgery, which can result in dramatic increases in life expectancy, and would enable the health system to address a part of the national cancer burden in a more proactive fashion.
The Forum was unique in that it brought together medical and surgical oncologists, medical geneticists, and researchers with health system leadership to discuss public health policies.
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The chief of INCA’s Division of Genetics and coordinator of the National Familial Cancer Network, Dr. Hector Seuánez, presented the network’s achievements over the past five years. The network currently has 15 participating centers, most with medical geneticists or clinical oncologists trained in hereditary cancer syndrome diagnosis and genetic counseling. The network aims to support the formulation, implementation and evaluation of public initiatives for clinical cancer genetics in the public healthcare system.
Data was also presented about the cost of genetic testing, demystifying the belief that all genetic testing is extremely expensive. "Once you've identified a mutation in a patient, their relatives can be tested for the same mutation for about $30," explained Dr. Patricia Ashton-Prolla, medical geneticist at Hospital das Clinicas de Porto Alegre and the Federal University of Rio Grande do Sul.
Brazil and most Latin America countries do not recognize the profession of Certified Genetic Counselor; thus there are no programs – as in the U.S. and Canada – to train genetic counselors. The Forum had presentations by Jenna Scott Camargos, CGC, a genetics counselor in the Hereditary Cancer Program of the British Columbia Cancer Agency in Vancouver, and Dr. Milena Flória Santos, a Professor of Nursing at the School of Nursing at the Riberão Preto campus of the University of São Paulo who addressed the role of genetic counselors play in North America and the emerging role for nurses, psychologists, and social workers with advanced training to expand access to genetic counseling as part of multidisciplinary cancer genetics teams in Brazil.
The Forum had 81 attendees including representatives from most of the participating centers of the National Familial Cancer Network. The Forum’s was opened by INCA’s Director General Dr. Luiz Antonio Santini and the Institute’s Associate Director for Science and Technology Dr. Luiz Augusto Maltoni. Participants included public officials, medical geneticists, clinical and surgical oncologists, an ethicist, a health lawyer, biologists, nurses, psychologists, and graduate students in genetics and molecular biology.
Throughout the Forum a wireless interactive device enabled participants to respond to questions posed by the speakers and Forum organizers. During the case presentations Forum participants were surveyed in real time as to how they might manage the cases or ethical considerations. The diversity of responses to several questions demonstrated that, for many issues, no consensus currently exists and that knowledge and attitudes are evolving.
Funding, in addition to ASCO’s support, came from the Regional Office in Brasilia of the Pan American Health Organization; these funds were administered by the Fundação do Cancer. The Forum program was also endorsed by the International Agency for Research on Cancer (IARC).
The INCA-ASCO Forum program – in Portuguese – and many of the talks presented at the Forum (some in English, some in Portuguese) are available as PDFs at: http://www.regencyeventos.com.br/even...Leigh J. Passman, MD, PhD is a physician and health services researcher based in Rio de Janeiro who consults on population-based cancer control. A consultant to Brazil’s National Cancer Institute since 2007 using international cooperation to promote health systems management improvement, Dr. Passman served on the Forum’s organizing committee.
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ASCO Global Express
spoke briefly with Dr. Jeffrey Weitzel of Clinical Cancer Genetics, an ASCO faculty at the INCA-ASCO Forum, about his experience at the Forum.ASCO Global Express: What did you learn from your experience in Brazil that you’d like readers to know?
There is a vibrant cancer genetics community of motivated clinicians in Brazil. The symposium was well organized and well attended. The audience was engaged and grateful for the opportunity for dialogue about the necessity, and challenges facing integration of genetic cancer risk assessment and management in the Brazilian health care system. There were parallels with our efforts at the City of Hope, to address disparities by reaching out to underserved populations. Getting access to genetic and genomic tools for precision medicine is a global issue. ASCO Global Express: Why do you think courses like the one organized by INCA-ASCO are important for patients with cancer?Dr. Weitzel:
The INCA-ASCO collaboration is important to patients with cancer, wherever they are in the world. As articulated in these courses, published policy statements and the work profiled in the annual meetings, ASCO has an obligation and a voice in promoting global health. I believe these efforts make a difference and they help anchor the efforts of clinicians in the host country. We look forward to continued friendship and collaborations with our Brazilian colleagues.