Familial Breast and Ovarian Cancer Syndrome Psychosocial aspects. Simone Petrich Breast Surgeon and Obstetrician & Gynaecologist Dunedin
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1 Familial Breast and Ovarian Cancer Syndrome Psychosocial aspects Simone Petrich Breast Surgeon and Obstetrician & Gynaecologist Dunedin
2 Aim of session Medical background BRCA Hereditary Breast and Ovarian Cancer Syndrome Psychosocial aspects of care Who cares?
3 BRCA patients: where do they fit in?
4 BRCA Everyone has it! Tumor suppressor gene
5 F022Mrbq_v0/UadKeyfZbcI/AAAAAAAAA94/ 9ZYcj6iszZY/s1600/4.png
6 BRCA Mutations in the gene increase the risk of cancer Hundreds of different types of mutations identified harmful, benign, unknown or uncertain Herideritary autosomal dominant 50 % chance to have inherited a faulty gene Passed on via men and women
7 BRCA gene mutation 5-10% of breast cancer are attribtuted to BRCA gene mutations BRCA Breast cancer risk x5 BRCA - Ovarian cancer risk 10 30x Other gene mutations also known
8 Lifetime risk of Cancer
9 Testing - Risk communication Overestimation of personal cancer risk awareness of the risks of genetic testing limited Decision about genetic testing is influenced strongly by exaggerated perceptions of personal cancer risk less so by perceptions of the risks of genetic testing
10 Risk communication perceptions of personal risk of cancer are resistant to standard education and counseling approaches psychologic distress and coping processes influence the processing of risk information and subsequent decision making in genetic testing family influences play an important role
11
12 Test Results Positive (harmful) BRCA gene mutation identified Unknown significance mutation Negative Known family mutation not found Uninformative No mutation found still potentially high risk
13 What now? Surveillance Breast: regular MRI and mammogram Ovaries: no proven benefit from surveillance Riskreducing surgery Medication Lifestyle
14
15 Subcutaneous mastectomy
16 TRAM recosntruction
17 Latissimus dorsi reconstruction
18 Implant & acellular dermal matrix
19 Removal of ovaries and tubes (BSO - bilateral salpingoophrectomy) Usually laparoscopic procedure Patient then postmenopausal Usually recommended around age 40 y Main issue long term side effects
20 Riskreduction
21 Physical aspects Cardiovascular disease Cognitive impairment, dementia Sexuality Osteoporosis
22 NIH-PA Author Manuscript NIH-PA Author Manuscript Shuster et al. Page 11 Figure 1. The risk-benefit balance for prophylactic bilateral oophorectomy in younger women.
23 Some Factors influencing the decision BRCA1/2 mutation positive status history for breast cancer or ductal carcinoma in situ or breast biopsy family history of ovarian cancer Ovaries/tubes Being older than age 40 parity personal history of breast cancer
24 Decisions made unaffected carriers of BRCA1/2 mutations US Mastectomy 23% to 46% BSO 13% to 51% Europe Mastectomy 47 to 54% France 7% BSO 50 to 64%? differences in the health care system, insurance coverage, and medical practice.
25 NZ Data
26
27 Psychosocial Aspects Six overarching themes coping with cancer risk practical issues family issues children-related issues living with cancer emotions
28 Coping with cancer risk (I) Reassessment of life and priorities Fatalistic view of life Changing lifestyle behaviour Focusing on the present Positive thinking Vigilant performing breast self examination Avoiding cancer as a topic Obtaining access to medical care Obtaining support from the clinic
29 Coping with cancer risk (II) Decision making/ decisional conflict about Genetic testing (prophylactic) Surgery Having children or not
30 Practical Problems Obtaining life insurance/loans Employment Procedural aspects of genetic testing
31 Family and social problems Communication problems with family members Partners lack insight in feelings Change in family atmosphere Feeling responsible for family members (survivor) Guilt towards their family
32 Children-related problems in general Concerns for children s increased risk Informing children about their risk Guilt towards children Fear of leaving your children Specifically related to their daughters Concerns for daughters increased risk How to inform the daughters
33 Living with cancer Concern / fear / thinking about risk of developing cancer (hereditary) Cancer is a continuing issue Pain about the loss of family members Intrusion with daily living Side effects of treatment
34 Emotions (I) Negative emotional reactions Stress, fear, (cancer) worries Shock or distress Anger, frustration or disappointment Anxiety or loneliness Feelings of loss Questions with spirituality Uncertain about the future
35 Emotions (II) Positive emotional reactions Reassurance Relief Reduced anxiety
36 Counseling Genetic Counseling does not have adverse psychological effects i.e., depression, anxiety, distress 25% clinically relevant adverse psychosocial effects after counseling 1/3 some level of unmet need for psycho-social services in relation to genetic counseling Genetic Counselors focus primarily on gathering and communicating bio medical information might have a teaching communication style Lack of time available to discuss potentially relevant psychosocial issues
37
38 Questionnaire Psychosocial Aspects of Hereditary Cancer questionnaire psychosocial screening questionnaire specifically for the clinical cancer genetics setting, current study Netherlands Patient reported outcome measures hypothesized to have a cascade of effects improved provider awareness of their patients problems improved patient care and management improved health outcomes
39 Telephone Interview Method randomized clinical trial, US, 2010 Standard Genetic Counselling +/- Psychosocial Telephone Counselling 128 BRCA1/2 mutation carriers Results At 6 months Reduced depressive symptoms (Z = 2.25, P =.02) Reduced genetic testing distress (Z = 2.18, P =.02) Reduced anxiety (χ21 = 4.11, P =.04) At 12 months No difference
40 Who cares? Radiology Social Worker Psychologist / Counsellor Breast Surgeon Genetic Counsellor GP BRCA positive / High Risk Gynaecology Oncologist
41 Summerstudentproject Aims What treatment received? Factors influencing the choice of women Quality of surveillance and treatment Lost to Follow up Patients Patient seen by CHCH Genetic Services 2009 Testing offered
42 Patient Pathway N=24
43 Who cares? Who should care? Within which sturcture?
44
45 Ministry of health funded Offer assessment of bowel cancer risk for people with a family history of GI cancer Facilitate the diagnosis of hereditary cancer by confirming the family history Offer surveillance recommendations Co-ordinate surveillance for high-risk families Offer specialist management advice Provide information for families on familial GI cancer
46 Future BRCA registry NZ Service for families at high risk for breast and ovarian cancer NZ Service for families with hereditary cancer syndromes
47
48
49
50 Forest plots of relative risk (RR) estimates for risk reduction of ovarian cancer associated with riskreducing salpingo-oophorectomy BRCA 1 BRCA 2 Marchetti et al. BMC Women's Health :150 doi: /s
51 Forest plots of relative risk (RR) estimates for risk reduction for all-causes mortality associated with riskreducing salpingo-oophorectomy BRCA 1 BRCA 2 Marchetti et al. BMC Women's Health :150 doi: /s
52 Literature Breast Disease 27 (2006,2007) IOS Press Psychosocial and Behavioral Impact of Genetic Counseling and Testing Susan Thomas Vadaparampila,b,, Cheryl A. Mireea, Crystal Wilsona and Paul. B. Jacobsena ahealth Outcomes and Behavior Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA bdepartment of Interdisciplinary Oncology, College of Medicine, University of South Florida, FL, USA
53 Eijzenga et al. BMC Cancer 2014, 14:26 STUDY PROTOCOL Open Access The efficacy of a standardized questionnaire in facilitating personalized communication about problems encountered in cancer genetic counseling: design of a randomized controlled trial Willem Eijzenga1, Neil K Aaronson1, Irma Kluijt2, Grace N Sidharta1, Daniela EE Hahn2, Margreet GEM Ausems3 and Eveline MA Bleiker1,2*
54 Published in final edited form as: Cancer Epidemiol Biomarkers Prev March ; 19(3): doi: / epi Randomized Controlled Trial of a Psychosocial Telephone Counseling Intervention in BRCA1 and BRCA2 Mutation Carriers Kristi D. Graves1, Lari Wenzel2, Marc D. Schwartz1, George Luta3, Paul Wileyto4, Steven Narod5, Beth N. Peshkin1, Alfred Marcus6, David Cella7, Susan Powell Emsbo6, Denise Barnes6, and Chanita Hughes Halbert8
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