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Physicians: genetic testing is becoming more and more common, so where are the guidelines?

As the frequency of genetic testing increases, Sitra calls for clear guidelines for doctors...



There are no clear guidelines on or harmonised practices for genetic testing in Finnish healthcare. This is the almost unanimous opinion of physicians who responded to a survey commissioned from Taloustutkimus by Sitra. Guidelines are needed, since no less than 84 per cent of physicians responding to the survey thought that genetic testing is an increasingly common aspect of medical work. None of the respondents believed that the significance of genetic testing would decrease in the future.

Almost every other physician participating in the survey (53% of respondents) had referred a patient for genetic tests in the last two years. Half of physicians had treated patients for whom genetic test or test risk results had been obtained.

“This survey reinforces the notion that, although physicians currently have limited experience of genetic testing, it is becoming an everyday procedure in Finnish healthcare,” says Director Antti Kivelä of Sitra.

Over three quarters of respondents (77%) had a positive or very positive view of the proliferation of genetic testing. In the view of physicians, exploitation of genetic information will become particularly common, not only in the evaluation of disease risks (41%) but also in diagnostics (34%).

The most significant obstacle to the increasing use of genetic testing in healthcare was considered to be a lack of information and sufficient competencies among healthcare professionals (43%). This result reinforces the key results of a Finnish study conducted in 2013, according to which employed physicians consider their training in medical genetics to be inadequate.* The second most frequently stated obstacle to the proliferation of genetic testing was a lack of resources and the cost of testing, particularly in the public sector (23%).

Approximately 100 000 tests involving genetics are conducted in Finland each year.** One of the most common types of genetic testing is the test for lactose intolerance. Genetic tests have rapidly become more common as their price has fallen since, in addition to tests conducted on the basis of medical referrals, consumers can order genetic tests through the internet simply by sending a saliva sample for analysis.

Development of methods in the field of genetics has led to a shift in focus from the study of individual genes to the study of a person’s entire genome. This means that the risks of contracting various diseases can be identified and prevented much more efficiently and affordably. Provision should now be made for the widespread exploitation of genetic data in preventive healthcare.

“Because genetic data plays an increasingly important role in preventive healthcare,” says Antti Kivelä, “it should be implemented more widely at national level. This would enable people to live longer and healthier lives.

“Citizens must be provided with the opportunity to access information on key hereditary risk factors affecting their health and well-being. We must adopt the premise that individuals will be aware of their genetic data and have the right to decide on its use. These rapid developments have created a need for national guidelines,” he says.

Sitra promotes the use of genome information and self-care by participating in pilot and co-operation projects and seeks to encourage service provision and business in this field in Finland, by means such as investing in top companies in the sector.

“In our opinion, Finland possesses outstanding potential for the development of new solutions for preventive healthcare and precision drugs,” says Senior Lead Tuula Tiihonen of Sitra. “The creation of added value by combining high-quality information technology with genome data services is an asset for Finland.”

The study investigated the attitudes of physicians towards genetic testing, as well as their experiences and opinions on the current state and future of genetic testing. The survey was taken in December 2013 by 100 general practitioners and specialists working with patients in the private and public sectors. The study’s detailed contents, which also cover the attitudes of citizens towards the exploitation of information on their genetic heritage, is due to be published in early 2014.

* Varilo, T., Pyörälä, E., Varilo, S., Hietala, M., Järvelä, I., (2013). Lääketieteellisen genetiikan osaamista tarvitsee yhä useampi lääkäri 68:1368–69. Helsinki: Suomen Lääkärilehti.

** Aittomäki, K., (2013). Genomitiedon aikakausi vaatii valmistautumista. Helsinki: Suomen Lääkärilehti (18/2013 vsk 68).

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