Tuesday 2 February 2016

More Genetics problems, this time focussing on Bioethics - taking a family history and the role of a health professional in disclosure

We will do some more practice of Genetics and go over some questions. Today we will also learn about pedigrees.  In fact, I'll dictate a pedigree for our test.

Angelina Jolie wrote about  a very public double mastectomy , raising awareness of the risks associated with the BRCA 1 and BRCA 2 gene.

 I will give you a patient scenario and you will draw a family history.  an example is below:  BRCA 1 and BRCA 2 are autosomal alleles which are strongly linked to cancer, particularly Breast cancer.  (see this fact sheet).  Genetic counsellors interview patients to assess their risk by drawing a pedigree.  You can practice drawing a pedigree here.  As you watch this video, and read the links, make conclusions about the type of allele which may lead to the breast cancer phenotype.


Genetic Counsellors use detective work to sensitively discern a patient's risk for a genetic disease.  There are bioethical guidelines which govern disclosure.  And there's no easy answers for communication.  Have a look at this scenario to see some of the ethical concerns, and imagine that you are a health professional in this situation: