Giving and Withholding of Information following Genomic Screening: Challenges Identified in a Study of Primary Care Physicians in Estonia

Abstract

The use of predictive genomic information to improve medical care remains a contentious topic. However, it is generally agreed that the potential of genomics to improve medicine relies on medical care providers' ability to effectively communicate and put in context the meaning of test results. As the amount of information available increasingly outstrips providers' ability to offer qualified judgments on what the information means, consumers inevitably will be faced with test results of uncertain significance, as well as difficult questions about what they do or do not wish to know. Results of this survey of 64 primary care doctors in Estonia suggests that it may be inherently difficult for physicians to withhold genetic information obtained by genome scans or sequencing, even when they believe that having that information is not in the best interests of their patient. The descriptive data suggest introducing genomic medicine through primary care physicians, as proposed by the Estonian Genome Center of the University of Tartu, will require further genetics education as well as a carefully developed set of guidelines for determining where, when and how to use test results.

General practitioners’ (GPs) experience, attitudes and needs on clinical genetic services: a systematic review

“…Of the 62 final articles included, 36 studies were quantitative studies,27–62 13 were qualitative studies,3 63–74 9 were randomised controlled trials75–83 and 4 were mixed-methods study70 84–86 (online supplemental table 5). The selected studies were conducted in USA (n=20), UK (n=19), Canada (n=11), Australia (n=6), Asia (n=4), New Zealand (n=1) and South Africa (n=1).…”

“…40 Sixty-four GPs surveyed in a separate study also expressed concerns on giving patients a false sense of security or inducing unnecessary anxiety over genetic results. 62 Moreover, resistance to adopt genetic testing was also exacerbated by organisational barriers such as rigid administration infrastructure, 66 lack of clinical guidelines on genetic practice 43 52 53 and limited access to labs that perform PGx testing. 84 Additional resources could also incur more cost that could overburden the healthcare system.…”

Advances in Genomic Discovery and Implications for Personalized Prevention and Medicine: Estonia as Example

“…Continued education and training of health professionals is also highly important so they are qualified to effectively apply genomic tests and communicate the garnered results to their patients. While family physicians are optimistic about envisioning genomics in their everyday practice they too recognize that additional training is necessary [ 123 ]. To prepare the physicians, genomic healthcare workshops are prepared, covering topics on genetic risk scores, pharmacogenomics, and genetic counselling.…”

An epidemiological perspective of personalized medicine: the Estonian experience

“…Whilst the personalized and predictive aspects of this approach rely on biomarkers for early diagnosing or for identification of at-risk patients, the preventive and participatory aspects rely on intervention at the primary care level where educating both patients and healthcare providers is crucial. The findings of a study of the expectations of Estonian primary care physicians regarding the use of genomic information in primary care practice suggested that there is an eagerness to apply genomic information in practice, as well as a willingness to improve their knowledge base in genetics and genomics [ 73 ]. However, there is a need for policies and guidelines, as well as clinical decision support, for determining where, when and how to use test results.…”