Demystifying Genetic Testing

Episode 8: Genetic testing

Genetic testing is complex with many different types of tests, and a range of terms used to describe the results of test, particularly in areas such as genetic epilepsy where research is moving so quickly. To help gain a better understanding of genetic testing and the results we talk to Dr Emma Palmer.

Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A.

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Guest interview:

Dr Emma Palmer is a Clinical Geneticist working at the State-wide Genetics of Learning Disability Service, diagnosing the cause of inherited intellectual disability and counselling families. She is a Conjoint Lecturer at the University of New South Wales investigating the application of genomics for severe epilepsy and intellectual disability. She is a Visiting Scientist in the Translational Genomics Group at the Garvan Institute.

In additional to a busy clinical load and two small children, Dr Palmer has growing research expertise with multiple international and national research conference presentations, invited presentations and first-author publications and reviews.

Follow Dr Palmer on Twitter: @emmagentics 

Regular Hosts:

Ms Kris Pierce RN MHSc MWellness, is a rare disease advocate and mother to Will who has SCN2A. Kris has held a range of board, project management, advocate and consumer representative roles and has been instrumental in working with local, state and federal governments to secure funding for multi-million dollar projects. Kris is highly skilled in building teams to work together collaboratively and is a co-founder of Genetic Epilepsy Team Australia (GETA) and SCN2A Australia, and a RARE Global Advocacy Leadership Council member.

Follow Kris on LinkedIn or Twitter.

Dr David Cunnington is a sleep physician and father to Will who has SCN2A. He is director of Melbourne Sleep Disorders Centre, and co-founder and contributor to SleepHub. David trained in sleep medicine both in Australia and at Harvard Medical School in the United States. David’s clinical practice covers all areas of sleep medicine and he is actively involved in training health professionals in sleep. David is a regular commentator on sleep, both in traditional and social media.
Follow David’s posts on sleep on Facebook or Twitter

Transcript:

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