Alicia Semaka

2007 Research Trainee Award, Junior Graduate Studentship

Development of clinical standards of care for Huntington disease intermediate allele predictive test results|,|

Huntington disease (HD) is an incurable, inherited genetic disease that usually affects individuals in their 30s and 40s. Symptoms are progressive and ultimately fatal. If an individual has HD, their children have a 50 per cent chance of developing the disease. Research has established that the genetic mutation underlying HD is an expanded ‘CAG repeat’ within the HD gene. Individuals who will eventually develop HD have a higher number of CAG repeats than individuals who will not develop the disease. A genetic test that determines the number of CAG repeats in the HD gene is available and can ‘predict’ whether someone will develop HD and thus have the ability to pass the disease on to their children. Some people who undergo this genetic test receive an unusual result called an intermediate allele (IA) which differs from a negative or positive result. Individuals with an IA will never develop HD, however they could still pass the disease onto their children.

Alicia Semaka is studying the unique genetic testing experience of individuals who have received an IA result. This includes the extent to which individuals understand the implications of an IA result for themselves and their children, how this result may impact life decisions, such as the decision to have children, and the current genetic counselling practices of medical genetics professionals regarding IA results. She is also researching the likelihood that an individual with an IA will have a child with HD and the prevalence of IAs in British Columbia’s general population. The ultimate goal of this study is to produce clinical standards of care for IA results to ensure this unique subset of individuals receive accurate education, support, and counselling throughout their genetic testing experience.

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