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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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slide1

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

slide2

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

slide3

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

slide4

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

slide5

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

slide6

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

slide7

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

slide8

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

slide9

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

slide10

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

slide11

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

slide12

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

slide13

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

slide14

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

slide15

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

slide16

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

slide17

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

slide18

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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