What are incidental findings in genetic testing?

Incidental findings in genetic testing. When a medical test is performed in a patient for a particular purpose, it is possible that the test will identify an unexpected abnormality that is not related to the initial reason for doing the test. Such findings can be surprising to both patient and doctor.

What do you mean by incidental findings?

An incidental finding is something extra found by the test. It’s something not related to the reason your doctor ordered the test. For example, a doctor may order a CT scan of your chest to look for a blood clot.

Should incidental findings be reported?

While such medical beneficence should not be discarded, the need to give proper attention to participants’ autonomy, privacy, and interests (especially considering discussion of participants’ right not to know) suggests an alternative standard for when to report incidental findings: even if they are of no direct …

What are secondary findings?

Secondary findings are genetic test results that provide information about changes (variants) in a gene unrelated to the primary purpose for the testing.

What are incidental or secondary findings?

Incidental findings traditionally are defined as results that are outside the original purpose for which a test or procedure was conducted. A secondary finding, by contrast, is not the primary target of the test or procedure; rather, it is an additional result actively sought by the practitioner.

What is actionable gene?

“Actionable” genes in adults were defined as having deleterious mutation(s) whose penetrance would result in specific, defined medical recommendation(s) both supported by evidence and, when implemented, expected to improve an outcome(s) in terms of mortality or the avoidance of significant morbidity.

What are primary and secondary findings in research?

These are distinct from primary findings, which are the results that are actively sought as the primary target of a test or procedure. A secondary finding, by contrast, is not the primary target of the test or procedure; rather, it is an additional result actively sought by the practitioner.

What are the ACMG 59?

The American College of Medical Genetics and Genomics (ACMG) currently recommends that disease-causing variants in 59 genes be reported to individuals, sometimes referred to as the ACMG 59.

What are some benefits to personalized genetic testing and medicine?

It provides personalized information about your health, disease risk, and other traits. It may help you be more proactive about your health. It does not require approval from a healthcare provider or health insurance company. It is often less expensive than genetic testing obtained through a healthcare provider.