Genetic Testing | on the right track baby I was born this way

In clinical medicine we mostly use genetic testing to find genetic causes of a person’s symptoms (such as developmental delay), prenatal carrier testing to determine the risk of two people having a child who will have certain recessive conditions and predictive testing looking for gene mutations that increase one’s risk of developing a disease e.g. checking for BRCA mutations for breast and ovarian cancer risk. We also use it for treatment targeting e.g. looking for certain mutations in the genes of cancer cells that we can target with chemotherapy. The practical applications of genetic testing in medicine are increasing all the time.

In this episode we will discuss karyotyping, FISH, microarray, gene sequencing and a quick note on testing for trinucleotide repeat (AKA repeat expansion) disorders.

You don’t want to miss:

• A case
• A quick revision of the key principles of genetics
• The main types of genetic disorders: single gene disorders and chromosomal disorders
• The types of genetic tests we use
• • Basic overview of what they do
  • When we use them
  • Benefits and limitations

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(This isn’t individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)