Editors' ChoiceHuman Genetics

What’s Your Attitude?

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Science Translational Medicine  16 Jul 2014:
Vol. 6, Issue 245, pp. 245ec124
DOI: 10.1126/scitranslmed.3009810

According to Winston Churchill, “Attitude is a little thing that makes a big difference.” In a recent study by Yu and colleagues, genetics experts had a chance to share their attitudes about returning genetic testing results from whole-exome and -genome sequencing to patients. The results of the study may make a difference in shaping guidelines for the medical genetics community on this important issue.

Exome sequencing is a clinically available diagnostic test that is most commonly ordered in children with an undiagnosed condition to identify the disease-causing mutation. In 25 to 50% of cases, the test provides a genetic diagnosis for the patient. However, because all genes are sequenced—not just those related to the condition of interests—mutations in any gene can be identified. Mutations that are not related to the primary diagnosis are referred to as “incidental findings.” Whether or not to report incidental findings is a topic of considerable debate. Is there an obligation to tell a patient about a mutation that increases his or her risk of cancer? Should a child’s parents be told about a mutation that causes an adult-onset disorder? Should carrier status for recessive diseases be given to adults? These incidental findings, although potentially useful in managing a disease, could also cause stress and anxiety, as in the case of learning about a late-onset disease for example.

Yu and colleagues surveyed ~800 genetics experts about the topic. Not surprisingly, the majority of respondents felt that patients who undergo exome or whole-genome sequencing should be given the option to hear about incidental findings, including mutations that cause adult-onset disease, carrier status for recessive disorders, and mutations affecting drug response, even if no specific action can be taken. Importantly, the majority felt that patient preference is important; that is, patients should have a say in what type of incidental results they want to receive. The overall results are important and timely, as the American College of Medical Genetics recently developed a list of genes for which they felt that incidental findings must be returned to patients, and some in the field have felt that only “actionable” results should be returned. On the basis of the results of this and similar studies, it is likely that the debate will continue, and attitudes may shift as we gain experience. Most importantly, the results highlight the willingness of care providers to partner with patients and families in this new era of genomic medicine.

J.-H. Yu et al., Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing. Am. J. Hum. Genet. 95, 77–84 (2014). [Abstract]

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