Title: Case 1 | Credit: Genome Research Limited

Alastair Smith’s case

Wellcome Connecting Science | Various | Empowering People: Genetic Counselling in Focus

Alastair has been referred for genetic counselling by a consultant neurologist. This is a senior medical doctor who specialises in the nervous system. He has been referred because his father has been diagnosed with Huntington’s disease and Alastair wishes to consider whether to undergo a predictive genetic test to find out if he is also affected. Huntington’s disease is an inherited condition that causes degeneration in the brain’s nerve cells. This has wide-ranging and debilitating effects on a person’s movement and cognitive abilities. Symptoms usually appear in a person’s 30s or 40s, and there is currently no cure. Because the symptoms usually appear later in life, many people discover that they are affected after having their children, meaning that there is a 50% chance that each child will have inherited the condition.


After discussing his options with a genetic counsellor Alastair decided to take a predictive genetic test to find out if he has the altered Huntington’s disease gene; if he does, this will confirm that he will definitely develop the condition. Unfortunately his test result was positive, meaning he has the altered gene. Alastair came back to the genetic counselling clinic to discuss the implications of his result, and alongside his partner explored options for starting a family that could avoid passing his inherited condition to future children. Whilst the genetic test result was not the outcome that he wanted, Alastair noted that the process enabled him to be empowered to make decisions for him and for his future family.