Incidental Findings in Genetic Research and Genetic Testing

Abstract

Incidental findings arise when clinically relevant genetic information about a research participant or patient is identified outside the scope of the original research objective or diagnostic test being performed. These findings can relate to carrier status for a heritable condition, misattributed paternity or increased susceptibility to a medical condition. The decision whether to disclose these findings to the research subject or patient is underpinned by many ethical, moral and potentially legal considerations. There is an urgent need for definitive guidelines for researchers and healthcare professionals. Major themes surrounding this issue include patient autonomy, patient welfare, harmful secrets and genetic literacy. The lack of relevant studies emphasises the urgent need for empirical investigations into the disclosure or nondisclosure of genetic incidental findings and the provision of guidelines to assist healthcare professionals and researchers.

Key Concepts:

  • Incidental findings are most likely to become more frequent due to advances in genome‐wide technology and decreases in the cost of testing.

  • Patient and participant autonomy must be considered in any strategy designed to manage incidental findings.

  • Patient and participant welfare should be a driving factor in decisions regarding disclosure of incidental findings.

  • Genetic secrets can be harmful to both the patient/participant and the healthcare professional.

  • The genetic literacy of healthcare professionals and public alike need to be considered when discussing genome‐wide testing technologies and attempts need to be made to increase knowledge across the board.

  • There is a lack of primary research data concerning patient and participant preferences regarding the management of incidental findings in research and the clinic.

  • Many clinician researchers have difficulty in separating their clinical and research obligations when genomic testing straddles the research–clinic interface.

  • There is an urgent need for coherent and ethical guidelines to address the management of incidental findings and assist researchers and clinicians in defining their legal, professional and ethical obligations.

Keywords: autonomy; genetic literacy; harmful secrets; incidental findings; patient welfare

Figure 1.

The cost of genome sequencing is falling rapidly. Since the first human genome was sequenced in 2001, the cost per genome of sequencing has fallen dramatically. In fact, this reduction has greatly exceeded that predicted by Moore's law. Moore's law refers to the doubling of computing capacity (and hence halving of price) and any technology exceeding this is judged to be moving particularly quickly. Data obtained from the National Institutes of Health National Human Genome Research Institute (http://www.genome.gov/sequencingcosts/).

Figure 2.

The number of genetic tests is increasing much faster than the number of testing laboratories. In the past 20 years, the number of laboratories carrying out genetic testing has risen from 110 to 605, whereas the number of diseases for which testing is available has risen from 111 to 2929. The consequence of this is that resources at testing laboratories will be stretched to cover the newly available tests. Data obtained from the GeneTests database (http://www.genetests.org/).

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Jackson, Leigh(Feb 2014) Incidental Findings in Genetic Research and Genetic Testing. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0025324]