BRCA 1 and BRCA 2 Predictive Testing

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BRCA 1 and BRCA 2Predictive Testing

• Audrey Ardern-Jones GAIC Public Meeting
• The Royal Marsden NHS Foundation Trust.

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Predictive Testing BRCA genes

• Over 18 unless exceptional circumstances.
• Person choosing the test must not have been
  coerced into having the test.
• The person having the test must be able to
  understand the implications of the test or
  his/her situation assessed by various medical
  persons who know the patient seeking the test.

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Predictive Testing Counselling issues

• It is essential that the counsellor informs the
  patient about the cancer risks associated with
  the gene. These risks need to be documented and
  understood.
• The patient should have enough time to make the
  decision to have the test with all the
  information that is available.

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Predictive Genetic Testing

• Mostly three sessions
• First session risks are documented and explained
  along with all the other issues
• Second session (4 weeks later) the patient will
  have had the letter and may need to revisit
  issues.At this session blood is taken.
• Third session results are given 6 8 weeks later.

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BREAST CANCER RISKS IN BRCA1/2 MUTATION CARRIERS
BRCA1
BRCA2
General Pop
Breast Cancer Linkage Consortium
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OVARIAN CANCER RISKS IN BRCA1/2 MUTATION CARRIERS
BRCA1
BRCA2
General Pop
Breast Cancer Linkage Consortium
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Family dynamics
WHAT SHOULD I DO THE PATIENTS CONCERNS
Marriage and children Whom shall I tell?
Insurance and Employment concerns Do I tell?
Knowledge of genetic status can face people with
very difficult life choices Do I have the test or
not? Will I cope?
Preventative surgery The implications
Research evidence
Breast ovarian screening Annually ?
Other screening
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Guidelines women carrying a high risk gene
mutation

• Surveillance
• annual clinical breast examination
• annual mammography
• annual transvaginal pelvic ultrasound
• annual CA125
• Lifestyle modification- diet, alcohol?
• Chemoprevention?
• Prophylactic surgery ?

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Risk reduction by surgery for BRCA1/2 carriers
Whats new?

• Prophylactic mastectomy reduces the risk of
  breast cancer - by about 90
• (Hartmann et al, NEJM, 1999) (Meijers-Heijboer
  et al, NEJM, 2001)
• Prophylactic oophorectomy reduces the risk of
  ovarian cancer -down to about 2
• (Struewing et al, JNCI Monogr, 1995) (Rebbeck et
  al, NEJM, 2002)
• Prophylactic oophorectomy reduces the risk of
  breast cancer - by about half (Rebbeck et al
  JNCI, 1999)
• Oral contraceptive use appears to reduce ovarian
  cancer risk (Narod et al, NEJM, 1998)

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BRCA 1 Gene Issues for Men

• Current information is that there is a very
  slightly increased risk of prostate cancer.
• Screening is available via a research project
  that will shortly be starting in the UK.
• If predominance of other cancers i.e. pancreatic
  cancer then there may be referral into research
  studies for evaluation.

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BRCA 2 gene Issues for men

• Increased lifetime risk of breast cancer (7)
• Increased risk of prostate cancer 14 by age
  70.
• Therefore, men who carry this gene should
  check their breasts and may consider prostate
  screening. The latter is available in a research
  study which is about to start in the UK.

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Role Play is very useful

• Write down reasons for person having the test.
• I need to know to manage my health.
• I need to know for my family and children
• I need to know to plan when I have my children.
• How will I feel if I am positive?
• Will I be able to handle this information?
• Who will support me?
• Have I talked about my feelings with my partner
  and family and friends?
• What plan have I to manage this information?

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Counsellors position

• Has this patient/client had enough time to make
  his/her decision. Do they need any referral to
  another specialist e.g. psychologist?
• If past history of depression and anxiety this
  may be an option for them. If past history of
  suicidal ideation, then a psychiatrist may be
  needed.

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Counsellors position

• Does this individual have written information
  about risks?
• Has she/he had enough time to consider having
  this test. It is important to emphasise that all
  relatives of a gene carrier may have annual
  screening without needing to have a test.
• Has the subject of Insurance Issues been raised
  and have they been given the leaflet written by
  ABI?

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Second Session Taking of Blood

• All issues regarding risk and possible outcome of
  testing are further discussed
• If person still wishes to have test, two bottles
  of blood are taken Name and d.o.b. and hospital
  number are double checked by team.
• Mutation report is double checked and copied onto
  request form for testing.
• Blood samples are sent to lab and are tested
  separately. Date for results appointment is
  given.

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Results

• Report is double checked with Consultant in
  Clinic before results are given out.
• A copy of the report is available for patients
  who wish this.

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Positive Results of Predictive Testing for BRCA
genes

• Results are given after the two sessions. If a
  patient is seeking referral for surgery then the
  results are given jointly by the Consultant and
  counsellor.
• If the patient is happy to be followed in the
  screening programme then the results are given to
  the patient by the counsellor who knows the
  patient.

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Negative Results for BRCA genes

• Results are given by the counsellor.
• It is essential to check the family history of
  the other side so as not to stop necessary
  screening. For example the gene is inherited via
  the father but mother has a significant family
  history of breast cancer but does not carry a
  high risk BRCA gene. Thus the patient will need
  follow up.

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Follow up for patients

• Calls are arranged on the telephone within a few
  days at a time agreed to see how they are.
• Follow up sessions are arranged in clinic for
  patients receiving both positive and negative
  results patients choice as to when and how
  they want to return to clinic. This varies
  between families.

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BRCA gene carriers

• Annual follow up in Cancer Genetics Clinic (RMH)
  -not at every centre.
• Virtual Clinic for all i.e. any problems
• Support Group three monthly (RMH)
• Support offered via counsellors.

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In conclusion

• BRCA gene carriers need support and follow up.
• Those who do not inherit the gene may feel
  greatly relieved but they may also have some
  feelings of survivor guilt and need support and
  follow up.