Direct-to-consumer genomic testing from the perspective of the health professional: a systematic review of the literature

Abstract

Since the 1990s, there has been a rapid expansion in the number and type of genetic tests available via health professionals; the last 10 years, however, have seen certain types of genetic and genomic tests available direct-to-consumer. The aim of this systematic review was to explore the topic of direct-to-consumer genetic testing from the health professional perspective. Search terms used to identify studies were 'direct-to-consumer', personal genom*, health* professional*, physician* 'genomic, genetic' in five bibliographic databases, together with citation searching. Eight quantitative papers were reviewed. Findings indicate a low level of awareness and experience of direct-to-consumer testing in health professionals. Inconsistent levels of knowledge and understanding were also found with two studies showing significant effects for gender and age. Concerns about clinical utility and lack of counselling were identified. Health professionals specialising in genetics were most likely to express concerns. There was also evidence of perceived increased workload for health professionals post-testing. However, some health professionals rated such tests clinically useful and cited benefits such as the increased opportunity for early screening. Despite limited awareness, knowledge and experience of actual cases, we concluded that the concerns and potential benefits expressed may be warranted. It may be useful to explore the attitudes and experiences of health professionals in more depth using a qualitative approach. Finally, it is essential that health professionals receive sufficient education and guidelines to equip them to help patients presenting with the results of these tests.

Personalized weight loss strategies—the role of macronutrient distribution

“…However, testing alone is not enough; patients who are left to draw their own conclusions from the results are at risk of suboptimal self-administration of dietary advice. 107,108 Thus, it is advisable to involve health professionals in the development of individualized medicine, specifically personalized nutrition, to establish new perspectives, identify barriers and ensure the optimum level of patient benefit. 109,110 In this context, genetic biomarkers derived from genomic studies could potentially be used for diagnosis, prediction of prognosis, treatment decision-making, and follow-up of patients receiving nutritional interventions.…”

Primary Care Physician Experiences with Integrated Pharmacogenomic Testing in a Community Health System

“…Through this process, PGx testing can be completed at home by the patient, but still involves supervision from the ordering healthcare provider. This is distinct from direct-toconsumer testing where a healthcare provider does not need to be involved in the process [1,[21][22][23]. Increased access to health information on the internet, demand for personal healthcare autonomy and lower test costs have likely increased the demand for these servicesas healthcare has become more consumer-driven [22].…”

“…Increased access to health information on the internet, demand for personal healthcare autonomy and lower test costs have likely increased the demand for these servicesas healthcare has become more consumer-driven [22]. However, controversy remains regarding potential risks and benefits of consumer-driven access to genomic information [1,21,23]. Concerns have been raised such as individual misunderstanding and anxiety, potential use of unnecessary health services and acting on information without the input of a health professional [1,21,23].…”

“…However, controversy remains regarding potential risks and benefits of consumer-driven access to genomic information [1,21,23]. Concerns have been raised such as individual misunderstanding and anxiety, potential use of unnecessary health services and acting on information without the input of a health professional [1,21,23]. Some studies have shown that only 25-35% of individuals report having shared their PGx direct-to-consumer test results with their physicians [1,24,25].…”

Captious certainties: makings, meanings and misreadings of consumer-oriented genetic testing

“…In a systematic review of the literature on user perspectives, Goldsmith et al (2013) state that there may be an increasing preference for accessing genetic testing via health care professionals and for discussing the results with them (see also Howard and Borry2013). However, we know little of consumer attitudes and of consumers' motivations for undertaking such testing; as yet, the results of these mostly non-representatives studies are not robust enough to draw any conclusions, especially since consumer behavior might vary substantially depending on social and cultural contexts, ranging from pure curiosity to anxieties and worries about one's own future health or the health of one's close relatives (Howard and Borry 2011;Vayena et al 2012;Blosset al 2013;Goldsmith et al 2013) In the case of predictive genetic testing, the prognosis not only refers to the patient or person himself but is bound up in a family history, as the information provided by genetic testing may also refer to the patient's ancestry, children, and even his grandchildren. Thus, genetic testing, potentially, has the power to predict not only a single life and the future of a single person, but it may come to predict the outline of the biological future of generations to come.…”