Implementation of personalized medicine in Central-Eastern Europe: pitfalls and potentials based on citizen’s attitude
Next-generation sequencing is increasingly utilized worldwide as a research and diagnostic tool and is anticipated to be implemented into everyday clinical practice. Since Central-Eastern European attitude toward genetic testing, especially broad genetic testing, is not well known, we performed a survey on this issue among Hungarian participants.
A self-administered questionnaire was distributed among patients and patient relatives at our neurogenetic outpatient clinic. Members of the general population were also recruited via public media. We used chi-square testing and binary logistic regression to examine factors influencing attitude.
We identified a mixed attitude toward genetic testing. Access to physician consultation positively influenced attitude. A higher self-determined genetic familiarity score associated with higher perceived genetic influence score, which in turn associated with greater willingness to participate in genetic testing. Medical professionals constituted a skeptical group.
We think that given the controversies and complexities of the next-generation sequencing field, the optimal clinical translation of NGS data should be performed in institutions which have the unique capability to provide interprofessional health education, transformative biomedical research, and crucial patient care. With optimization of the clinical translational process, improvement of genetic literacy may increase patient engagement and empowerment.
Relevance of the article for predictive, preventive, and personalized medicine
The paper highlights that in countries with relatively low-genetic literacy, a special strategy is needed to enhance the implementation of personalized medicine.
KeywordsNext-generation sequencing Hungary Survey Counseling Ethic Predictive genetic tests Predictive preventive personalized medicine Direct to consumer genetic tests Genetic literacy
We thank the participating patients, patient’s relatives, students, and colleagues who filled out this survey. We thank Petra Kerekes and Lisa Hubers for language corrections. This study was supported by the project KTIA_13_NAP-A-III/6.
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
- 21.Carere DA, Couper MP, Crawford SD, Kalia SS, Duggan JR, Moreno TA, et al. Design, methods, and participant characteristics of the impact of personal genomics (PGen) study, a prospective cohort study of direct-to-consumer personal genomic testing customers. Genome Med. 2014;6:96. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=4256737&tool=pmcentrez&rendertype=abstract CrossRefPubMedPubMedCentralGoogle Scholar
- 22.Bloss CS, Darst BF, Topol EJ, Schork NJ. Direct-to-consumer personalized genomic testing. Hum Mol Genet. 2011;20:R132–41. [cited 2016 Nov 11] Available from: http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddr349 CrossRefPubMedPubMedCentralGoogle Scholar
- 24.Farwell KD, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Tippin Davis B, et al. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions. Genet Med. 2015;17:578–86. https://doi.org/10.1038/gim.2014.154.CrossRefPubMedGoogle Scholar
- 28.Kolor K, Duquette D, Zlot A, Foland J, Anderson B, Giles R, et al. Public awareness and use of direct-to-consumer personal genomic tests from four state population-based surveys, and implications for clinical and public health practice. Genet Med. 2012;14:860–7. https://doi.org/10.1038/gim.2012.67.CrossRefPubMedPubMedCentralGoogle Scholar
- 32.Ostergren JE, Gornick MC, Carere DA, Kalia SS, Uhlmann WR, Ruffin MT, et al. How well do customers of direct-to-consumer personal genomic testing services comprehend genetic test results? Findings from the impact of personal genomics study. Public Health Genomics. 2015;18:216–24. https://doi.org/10.1159/000431250.CrossRefPubMedPubMedCentralGoogle Scholar
- 38.Aaviksoo A, Ballensiefen W, Bauer H, Bußhoff U, Frenzel M, Guglielmi G, et al. Action plan: actionable research and support activities. [cited 2017 Dec 27]; Available from: http://www.icpermed.eu/media/content/ICPerMed_Actionplan_2017_web.pdf