Effect of genetic consultation on genetic literacy: a 15 years-investigation in two countries

Pedrazzani, Carla Ambrogina and Ming, C and Caiata Zufferey, Maria and Burki, N and Graffeo-Galbiati, R and Katapodi, M (2021) Effect of genetic consultation on genetic literacy: a 15 years-investigation in two countries. In: Clinical Research Day of the Department of Clinical Research of the University of Basel, 28.1.2021, Basel, Switzerland.

Full text not available from this repository.


Background With the evolving role of genetics and genomics in medicine and public health, genetic literacy is becoming crucial for promoting genetic and multifactorial diseases’ prevention and control, at an individual and community level. To date it is not clear if and how genetic literacy has been changing over time and the role that genetic counselling may play in improving genetic literacy in mutation carriers and at risk family members. This study aims to document how genetic literacy has been changing in the past 15 years, its variations according to demographic and clinical characteristics, the effect of genetic consultation on genetic literacy and the knowledge items on which genetic consultation should be more focused. Methods Cross-sectional study with a sequential design. Descriptive data were collected from three family-based studies, two cohort studies (one in US, one in Switzerland) and baseline data from an RCT (US), in three time points: 2007 - 2008, 2012 - 2013 and 2017 - 2020. All studies include primarily females ≥18 years old at risk or confirmed for HBOC mutations, who had received genetic counselling, and one or more at risk relatives without genetic counselling. Genetic literacy was measured with items based on validated surveys and grouped in five consecutive categories according to The Swiss Group for Clinical Cancer Research (SAKK) genetic counselling guidelines: knowledge of non-genetic and genetic risk factors, knowledge about signs of hereditary cancer and probabilities of developing breast cancer and genetic affinity. Data analysis is ongoing. Results Globally, 1875 individuals have been recruited. 698 had genetic counselling (168 at the first time-point; 313 at the second; 217 al the third) and 1177 had not had genetic counselling (168 at the first time-point; 977 at the second; 32 at the third). The mean age of participants who had genetic counselling was 50.2±11.3 (51.5±11.1; 48.3±9.7; 50.8±13.0) and of participants without genetic counselling was 48.7±13.1 (48.0±16.2; 48.7±7.0; 49.3±16.0), without significant differences also in the other demographic characteristics. Preliminary analysis show that for almost all items people with consultation have higher level of knowledge compared to ones who didn’t have, across time. In general, low scores in knowledge of non-genetic risk factors, except for having a previous cancer and being old aged, can be detected in all groups across time. Regarding genetic risk factors, connection with a family history of ovarian cancer is not clear to ones without genetic counselling (true answers only in 61.5% vs 76.2% in ones who had genetic counselling – p=0.001). Having a male relative with breast cancer and having a family history of breast cancer from the dad’s side of the family, are hardly recognised as risk factors even for those who had consultation (true answers in 65,7% and 70.5% in the two items respectively vs 54.3% and 59.0% in ones who had not had genetic counselling). Conclusion With time passing by, genetic affinity, that is the perceived knowledge and understanding of genetic information, increases probably because of the contribution of media. Preliminary data show that genetic counselling has a crucial role in improving genetic literacy in individuals who receive the consultation but that information to at risk relatives not always passes on. The need of increasing education about specific knowledge items in whom receives genetic counselling, clearly emerges too.

Actions (login required)

View Item View Item