Cancer genomics and cancer epidemiology

1. Cancer genomics and cancer epidemiology Prof. Martina Cornel Professor of Community Genetics & Public Health Genomics Department of Clinical Genetics Community Genetics

2. Outline • Rapid developments in genetics/genomics • Lack of translation to regular health care • Premature “valorisation” by commercial parties • Opportunities for prevention & screening, integrating genetics/genomics in public health • Opportunities for application of genomics knowledge in tumorprofiling • Potential opportunities for prevention (folic acid)

3. The Human Genome Project: • # genes 20.000-25.000 J. Craig Venter et al. THE SEQUENCE OF THE HUMAN GENOME Science 2001; 291:1304-1351. International Human Genome Sequencing Consortium. Nature 2001;409, 860-921

4. 2007 11941 379 2221 1595 2107 18243

5. Genetics & public health • >10.000 genes discovered and catalogued • Tests available in medical practice: minority • Risks for almost all human diseases result from interactions between .. gene variants and environmental factors…..which raises the possibility of targeting disease prevention and health promotion to individuals at high risk because of ..genetic makeup. • We lack population based information about the distribution of genotypes in different populations, the benefits and risks of genetic testing, and the efficacy of early interventions. • Rapid commercialization of genetic tests

9. Outline • Rapid developments in genetics/genomics • Lack of translation to regular health care • Premature “valorisation” by commercial parties • Opportunities for prevention & screening, integrating genetics/genomics in public health • Opportunities for application of genomics knowledge in tumorprofiling • Potential opportunities for prevention (folic acid)

10. Colon cancer screening • In 2003 9.898 new cases of colon cancer • In 2004 4.500 deaths of colorectal cancer • 2005-2025 increase of 42% cases of colon cancer expected (related to increased life expectancy) • Prognosis improved somewhat in recent years • Preventive measures would be worthwhile!

11. Colon cancer screening FOBT: faecal occult blood test HR = high risk; F+ = positive family history; CRC = colorectal cancer; HP = hyperplastic polyp; AD = adenoma. De Visser 2005

12. For discussion • Access to FOBT in regular health care limited • Access to colonoscopy limited • Many citizens & primary care physicians don’t know about hereditary cancers • Proactive program to inform public is needed! • Commercial offers without expert clinical geneticists, quality control of laboratory facilities

13. Diagnosis and therapy • “Splitting and lumping” according to aetiologal pathway • Example: trastuzumab (Herceptin®) in breast cancer therapy in case of HER2-overexpression. Monoclonal antibody therapy in subgroup with bad prognosis. • Genomics: from inherited disorders to systems biology

14. Diagnose en therapie

15. Mammaprint ®

17. Colon cancer & primary prevention?? • Fortify food with folic acid • Increase multivitamin intake/folic acid intake • Study Colonca prevalence! • Note: also association with fetal neural tube defects • Note: some say folic acid increases risk of carcinoma in people with adenoma (rare but severe)

18. For discussion II • New potential interventions need to be studied • If commercially interesting, it happens anyway • If it fits in regular health care (cancer therapy), it happens anyway • The real challenge lies in prevention • New structures needed, funding needed