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FACET - European Journal of Cancer Care May 2005

FACET - European Journal of Cancer Care May 2005. Cancer genetics – an overview of an information project Pithers, A. 1 & Mackay, J. 2. Why is there a need for a genetic information project?

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FACET - European Journal of Cancer Care May 2005

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  1. FACET - European Journal of Cancer Care May 2005 Cancer genetics – an overview of an information project Pithers, A.1 & Mackay, J.2 • Why is there a need for a genetic information project? • An increasing number of callers to the CancerBACUP telephone helpline are concerned about familial risk • The majority of people worry unnecessarily • Many people are misinformed regarding risk factors • Cancer genetics makes up more than 25% of all referrals to regional genetic services in the UK Slide One *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  2. FACET - European Journal of Cancer Care May 2005 Cancer genetics – an overview of an information project(continued) • Providing high quality information • Booklet • Understanding Cancer Genetics • ‘Low Risk’ leaflets • Cancer (generic) • Breast cancer • Ovarian cancer • Bowel cancer Slide Two *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  3. FACET - European Journal of Cancer Care May 2005 Cancer genetics – an overview of an information project (continued) Understanding Cancer Genetics Slide Three *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  4. FACET - European Journal of Cancer Care May 2005 Cancer genetics – an overview of an information project (continued) Are you worried about… cancer? Slide Four *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  5. FACET - European Journal of Cancer Care May 2005 Cancer genetics – an overview of an information project (continued) Are you worried about… breast cancer? Slide Five *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  6. FACET - European Journal of Cancer Care May 2005 Cancer genetics – an overview of an information project(continued) Are you worried about… ovarian cancer? Slide Six *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  7. FACET - European Journal of Cancer Care May 2005 Cancer genetics – an overview of an information project (continued) Are you worried about… bowel cancer? Slide Seven *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  8. FACET - European Journal of Cancer Care May 2005 Cancer genetics – an overview of an information project (continued) • Cancer genes –1 • All cancers are caused by changes in the genetic material • Multi-step theory of carcinogenesis • In most common cancers these genetic changes occur sporadically (i.e. there are no inherited genetic changes) Slide Eight *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  9. FACET - European Journal of Cancer Care May 2005 Cancer genetics – an overview of an information project (continued) • Cancer genes – 2 • There are several types of cancer gene. The main types are: • Oncogenes • Tumour suppressor genes Slide Nine *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  10. FACET - European Journal of Cancer Care May 2005 Cancer genetics – an overview of an information project (continued) • Two-hit hypothesis and inherited cancer risk • First described by Knudson in the development of cancer in retinoblastoma • Between 5 and 10% of cancers are thought to be linked to an inherited genetic mutation • The inherited genes that predispose for breast/ovarian cancer and familial adenomatous polyposis are malfunctioning tumour suppressor genes Slide Ten *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  11. FACET - European Journal of Cancer Care May 2005 Cancer genetics – an overview of an information project (continued) • The most common cancers in which an inherited genetic mutation may play a crucial role are: • Breast/ovarian cancers • Bowel cancer (HNPCC, FAP) • Others: prostate, pancreatic and testicular (but no genetic tests available for these yet) • Very rare genetic disorders, for example – Li-Fraumeni Syndrome, MEN1, von Lippel-Hindau disease, neurofibromatosis and retinoblastoma Slide Eleven *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  12. FACET - European Journal of Cancer Care May 2005 Cancer genetics – an overview of an information project (continued) • Main messages to those referred to cancer genetic services: • How the NHS delivers cancer genetic services • How is risk assessed • Why not everyone can have a genetic test and why you often don’t get meaningful results from a genetic test • Many people have to continue living with uncertainty • Psychosocial consequences of living with uncertainty Slide Twelve *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  13. FACET - European Journal of Cancer Care May 2005 Cancer genetics – an overview of an information project (continued) • Genetic testing • A two step process; mutation searching and predictive testing • If you don’t have cancer yourself or don’t have a living relative with cancer, you cannot be tested on the NHS • Only if a mutation is found (and this is often not the case) can predictive testing be offered to other family members • Only about 1 in 10 genetic tests finds a mutation using our present technology (even in high risk families) • Difference between a negative and inconclusive test Slide Thirteen *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  14. FACET - European Journal of Cancer Care May 2005 Cancer genetics – an overview of an information project (continued) • What if no mutation is found? • The test might have missed the mutation • The entire gene hasn’t been tested • There is a faulty gene in the family that has not been identified yet • The cancer in the family or person isn’t actually due to an inherited gene and the clustering of cases of cancer has occurred by chance Slide Fourteen *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  15. FACET - European Journal of Cancer Care May 2005 Cancer genetics – an overview of an information project (continued) • The importance of explanation of risk • You don’t inherit cancer from your family, but you might inherit an increased risk of developing cancer • How risk is explained and understood is vital to the effectiveness of any genetic information provision • Focus on genes must not diminish the importance of environmental factors Slide Fifteen *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  16. FACET - European Journal of Cancer Care May 2005 Cancer genetics – an overview of an information project (continued) • Some important issues to consider • The difference between screening and prevention Familial consequences (who to tell, parentage issues etc.) • Insurance implications • Other possible forms of discrimination • Pharmacogenetics – the future Slide Sixteen *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  17. FACET - European Journal of Cancer Care May 2005 Cancer genetics – an overview of an information project (continued) • Cancer genetics – summing up • Cancer genetics referrals now form a major part of genetic services Only 5-10% of cancers are clearly linked to a genetic mutation • Cancer genetic testing does not banish uncertainty Slide Seventeen *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

  18. FACET - European Journal of Cancer Care May 2005 Cancer genetics – an overview of an information project (continued) • References and further reading • Harper P.S. (2004) Practical Genetic Counselling (6th edn), Arnold Publishers, London, UK. • Skirton, H. & Patch, C. (2002) Genetics for Healthcare Professionals, Bios Scientific Publishers, Oxford, UK. • Kingston, H.M. (2002) ABC of Clinical Genetics (3rd ed), BMJ Books, London, UK. • Websites • CancerBACUP www.cancerbacup.org.uk • British Society for Human Genetics www.bshg.org.uk • Public Health Genetics Unit www.phgu.org.uk • Association of British Insurers www.abi.org.uk (produces the publication Insurance and Genetic Tests – what you need to know) • National Institute for Clinical Excellence www.nice.org.uk Slide Eighteen *Click on “View”; “Notes Page” for explanatory notes slides available at: www.blackwellpublishing.com/journals/ecc

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