Exploring Australian public knowledge and understanding of genetic concepts and terminology in the era of personal genomics

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23rd May 2016

Abstract:

Personal genomic testing provides healthy individuals with access to infor- mation about their genetic makeup for purposes that include ancestry, pa- ternity, sporting ability and health. While much of this testing has occurred within the USA, it is likely that such testing will become routine and accessible to everyone.

Focus groups were conducted within a multi-disciplinary project to explore Australians’ awareness of personal genomic testing. In mid-2015, 56 mem- bers of the public participated in 7 focus groups, allocated into 3 age groups: 18-25, 26-49 and ≥50 years. Three researchers coded transcripts indepen- dently and themes were generated. Here we present themes focusing on awareness of personal genomic testing and genetic literacy.

No-one had heard of the term ‘direct-to-consumer’ testing; most were not familiar with ‘personal genomic testing’ as such, but could deduce what ‘personal genomics’ might entail. Participants’ descriptions of DNA, genetics and genomics varied according to prior experience and education. They were familiar with ideas of heredity and acknowledged genetic influences on physical characteristics. There were diverse perceptions of the relative influence of genetics and environment on health, mental health, behaviour, talent or personality. While many participants felt their own understanding of genetics was limited and did not mention specific terms, such as epigenetics, they were able to contribute to discussions using descriptive language. The focus groups highlighted challenges of using specific, jargon-laden genetic terms in public discussions. These findings can inform development of more engaging services and educational resources for the public to understand and make decisions around these marketed tests.

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Citation:

Metcalfe SA, Terrill B. Hickerton C, Savard J, Turbitt E, Newson A, Gaff C, Gray K, Middleton A, Wilson B (2016) Exploring Australian public knowledge and understanding of genetic concepts and terminology in the era of personal genomics. European Society of Human Genetics, 23rd May, Barcelona, Spain. Spoken presentation.