Self-Regulation of Genomic Studies and the Problem of Correct Interpretation of Sequencing Results by Consumers

The paper deals with the problems of interpretation of individual genome sequencing results as predictively probabilistic information. The authors have determined the main issues related to the legal area within the framework of self-regulatory organizations uniting subjects of professional activity (professional associations).The authors have analyzed the features of perception of risks (negative probability). Information under consideration is particularly complex for the consumer, as risk assessment is difficult for ordinary perception. The conclusion is made about the necessity of training all participants — geneticists, clinicians of various specialties, general practitioners, average medical staff and potential consumers of services.

A fundamental conclusion is as follows: the integration of genomic research into the science and practice of the public health system can contribute to the improvement of public health, change of the lifestyle of the population implementing the recommendations of specialists aimed at correcting genetic risks identified by testing.

When analyzing the main features of self-regulation of genomic studies, we come to the conclusion that in order to correct their lifestyle and health, the society faces a question of competent attitude to the results of genomic studies and their use. Moreover, this competence concerns not only consumers of genomic testing services, but also professionals obliged to correctly and accurately present the results of testing.

The task of carrying out training activities and additional vocational education can be solved by a competent professional community based on self-regulatory organizations unifying subjects of professional activity (professional associations). 

1. Anokhin PK. Biologiya i neyrofiziologiya uslovnogo refleksa [Biology and Neurophysiology of Conditional Reflex]. Moscow: Meditsina; 1968. (In Russ.)

2. Khrisanfova EN, Perevozchikov IV. antropologiya : uchebnik [Athropology: textbook]. 4th ed. Moscow: Izd-vo Mosk. un-ta: Nauka; 2005. (In Russ.)

3. Bochkov NP. Klinicheskaya genetika : uchebnik [Clinical genetics: A Textbook]. Moscow: Geotar-Med; 2002. (In Russ.)

4. Izmerov NF, Kasparov AA. Meditsina truda. vvedenie v spetsialnost : posobie dlya poslediplomnoy podgotovki vrachey [Occupational medicine. Introduction to the specialty: A study-guide for postgraduate training of doctors]. Moscow: Medicine; 2002. (In Russ.)

5. Mlodinov L. (Ne)sovershennaya sluchaynost. Kak sluchay upravlyaet nashey zhiznyu. (Not) perfect randomness. How contigency governs our life. Moscow: Gayatri/Livebook; 2010. (Russ.)

6. Onishchenko GG, Novikov SM, Rakhmanin YuA, Avaliani SL, Bushtueva KA. Rakhmanin SYu, Onishchenko GG, editors. Osnovy otsenki riska dlya zdorovya naseleniya pri vozdeystvii khimicheskikh veshchestv, zagryaznyayushchikh okruzhayushchuyu sredu [Fundamentals of assessment of risk to public health when exposed to environmental pollutants]. Moscow: NII ECh i GOS; 2002. (In Russ.)

7. Fletcher R, Fletcher S, Wagner E. Klinicheskaya epidemiologiya: osnovy dokazatelnoy meditsiny [Clinical Epidemiology: Fundamentals of Evidence-Based Medicine]. Moscow: Media Sphere; 1998. (In Russ.)

8. Abel E, Horner SD, Tyler D, Innerarity SA. The Impact of Genetic Information jn Policy and Clinical Practice. Policy Polit Nurs Practice. 2005;6(1):5-14. Available from: https://pubmed.ncbi.nlm.nih.gov/16443953/ [cited 10 May 2020].

9. Bowen DJ, Battuello KM, Raats M. Marketing Genetic Tests: Empowerment or Snake Oil? Health Education and Behaviour. 2005;32(5). Available from: https://pubmed.ncbi.nlm.nih.gov/16148213 [cited 10 May 2020].

10. Leighton JW, Valverde K, Bernhardt BA. The General Public’s Understanding and Perception of Direct-toConsumer Genetic Test Results. Public Health Genomics. 2012;15 (1) :11-21. Available from: https://pubmed.ncbi.nlm.nih.gov/21720148[cited 10 May 2020].

11. Lipkus IM. Numeric, Verbal, and Visual Formats of Conveying Health Risks: Suggested Best Practices and Future Recommendations. Medical Decision Making. 2008; 27(5):696—713. Available from: https://pubmed.ncbi.nlm.nih.gov/17873259/ [cited 10 May 020].

12. Michelazzo MB, Pastorino R, Mazzucco W, Boccia S. Distance learning training in genetics and genomics testing for Italian health professions: results of a pre and post-test evolution EBPH Epidemiology. Biostatistics and Public Health. 2015;12(3). Available from: https://ebph.it/article/view/11516/ [cited 10 May 2020].

13. Peterson SK. The Role of the Family in Genetic Testing: Theoretical Perspectives, Current Knowledge, and Future Directions. Health Education and Behavior. 2005; 32 (5):627-39. Available from: https://pubmed.ncbi.nlm.nih.gov/16148209/ [cited 10 May 2020].

14. Sharon LR, Wang C. The Role of Health Education and Behavior in Public Health Genetics. Health Education and Behavior. 2005;32(5). Available from: https://journals.sagepub.com [cited 10 May 2020].

15. Wang C, Bowen DJ, Sharon LR. Research and Practice Opportunities at the Intersection of Health Education, Health Behavior, and Genomics. Health Education and Behavior. 2005;32(5). Available from: https://pubmed.ncbi.nlm.nih.gov/16148214 [cited 10 May 2020].

16. Weinstein ND, Kwitel A, McCaul KD, Magnan RE, Gerrard M, Gibbons FX. Risk Perceptions: Assessment and Relationship to Influenza Vaccination. Health Psychology. 2007;26(2):146—151. Available from: https://pubmed.ncbi.nlm.nih.gov/17385965/ [cited 10 May 2020].