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Genetic testing information

Clinical Discipline(s)/Organ System(s)
Ethics, Medical Genetics, General Practice, Oncology
Progress Test Topic(s)
General duties, Women's health
A 44 year old NZ European woman found relatives she hadn’t known about after embarking on a genealogy project. Many of them had been diagnosed with breast cancer at an early age. She consulted her GP and after counselling underwent genetic testing. Results revealed she had inherited a predisposition to breast cancer that meant she had a 40-80% chance of developing it in her lifetime. She has a sister and two daughters aged 12 and 19 years old.
Progress Test-Type Questions:   Question 1 | Question 2
Applied Science for Medicine 
   - Genetics of familial breast cancer
   - Hormone replacement therapy (HRT): risks, benefits, costs, regulation
   - The process of drug development, licensing and Pharmaceutical Management Agency (PHARMAC) funding
Clinical and Communication Skills 
   - Disclosure of a patient’s medical information to third party
   - Genetic testing of children and the issue of consent/assent
   - Awareness of the law in NZ involving testing of minors
   - Advising about genetic testing for breast cancer
   - Informing a patient of the benefits and risks of genetic testing; discussion of genetic discrimination (health insurers and employers)
   - Talking to a patient about their cancer risk
   - Role of the GP in facilitating referral
   - Advance care planning discussion
Personal and Professional Skills 
   - Understand concepts of patient competency and decision-making capacity
   - Principles of informed consent
   - Awareness of cultural or religious factors within whānau
   - Awareness of financial issues that may affect treatment decisions
   - Right to know / right not to know information
   - Pre and post-test counselling
   - Awareness of third party interest in knowing medical information (insurance companies and employers)
   - Emotional and ethical implications of gene testing
   - Awareness of own opinion regarding investigation and management of genetic disorders; respect patient autonomy
   - Confidentiality of patient information and how information about one family member can reveal information about the whole family
   - Discuss with a patient the significance of genetic information for whānau
   - Breaking bad news/discussion about cancer
Hauora Māori 
   - Inequities in breast cancer incidence rates, stage at diagnosis and mortality for Māori compared with non Māori, and application of this to clinical decision making and management
   - Differential performance of the breast cancer screening programme for Māori
   - Understanding of the role of kaupapa Māori screening programmes in reducing inequalities
Population Health 
   - Role of regular clinical breast examination and mammograms
   - Science of screening tests; criteria required to institute a screening programme
   - Breast cancer screening; rationale, requirements for success and performance of the Breast Screen Aotearoa programme
   - Epidemiology of breast cancer: lifetime risk, time trends, risk factors, opportunities for prevention
Conditions to be considered relating to this scenario
Less common but 'important not to miss'
familial breast cancer, familial ovarian cancer, hereditary nonpolyposis colorectal cancer, familial adenomatous polyposis

National Screening Unit: