MED1011-PCL-Week4

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Patient Summary
Female in late 20s presents with concern about breast cancer, due to a family history (mother and aunt affected). Wants to have genetic testing. Living with her mother, currently out of work and having financial difficulties.

Dx = **Breast cancer** (focus on **genetic testing**)

__Risk Factors__
· BRCA-1 and BRCA-2 – 66% risk if one defective copy of each · Increased age · Exposure to ionising radiation, carcinogenic chemicals · Obesity · High alcohol intake and smoking · Females · Family history / past history · High levels of oestrogen – HRT, obesity, periods early / menopause late, not breastfeeding or having full term pregnancies

__Human Genome Project__
· Aims to discover all human genes, determine sequence of genome, develop sequencing tools and make information available · Implications o Access and ownership of genetic information o Potential for genetic enhancement / abuse o Designer babies and saviour siblings o Appropriate counselling and informed choice o Reliability of tests o Possible stigmatisation

__Genetic Tests__
· Newborn screening · Diagnostic testing – diagnose or exclude specific genetic/chromosomal condition · Carrier testing · Prenatal testing – testing of foetus · Predictive testing – identify mutations that increase chance of developing certain disorders __Advantages__ o Identify increased risk if positive test so can prepare self and address other risk factors o Negative test à peace of mind o Decide whether to go ahead with pregnancy __Disadvantages__ o Not definitive / limitations – can’t predict severity o Can get false results o Anxiety, depression o Risk of discrimination – who has access to results – insurance companies, employers o Expensive o Implications for other family members – duty to disclose?