Incidental Findings

Question 1

What is an incidental finding?

Answer 1

An incidental finding (IF) can be defined as a finding that has potential health or reproductive importance for an individual, discovered in the course of conducting a particular study (in research, clinical care or screening) but is beyond the aims of that study. IFs can arise in all medical contexts but are most frequently reported in neuroimaging, oncology and genetics settings.

Question 2

How are IF’s categorised?

Answer 2

IFs can be categorized based on their clinical utility. They typically fall into one of three categories: 1) actionable (whether immediately or remotely), 2) clinically relevant, but not actionable, and 3) of uncertain significance. An actionable IF is one for which it is well known that a therapeutic or preventive measure exists that can significantly benefit the health of the individual in whom it was discovered. A clinically relevant, but not actionable, finding could, for example, be a carrier status for an autosomal recessive condition for which carrier screening is recommended. A variant of uncertain significance is a finding that cannot be unequivocally classified as clinically significant or benign. This could be because there is known variable expressivity or incomplete penetrance for the finding or because the finding is novel and has only very rarely or never been seen before. A VOUS may affect a gene that is relevant to the indication for testing or may be incidental in an unrelated gene. Thus, IFs and VOUS can overlap, creating additional complexity and clinical counselling and management challenges.

Question 3

What should be considered when reporting an IF?

Answer 3

• Is it clinically relevant
• Is the disease or risk clearly proven
• Would reporting the finding lead to a better clinical outcome (e.g. are treatments available)
• Has the patient given informed consented for this test
• Patient autonomy- Is there an option for the patient to opt-out for receiving feedback from incidental findings
• Would withholding the information open the department to litigation
• Is it ethical to withhold the information

Question 4

What are the attributes of an IF with a strong net benefit?

Answer 4

• Information revealing a condition likely to be life threatening
• Information revealing condition likely to be grave that can be avoided or ameliorated
• Genetic info revealing risk of a condition likely to be life threatening
• Genetic info that can be used to avoid or ameliorate a condition likely to be grave
• Genetic info that can be used in reproductive decision making 1) to avoid significant risk for offspring of a condition likely to be life threatening or grave or 2) to ameliorate a condition likely to be life threatening or grave

Question 5

What is the recommended action for an IF with a strong net benefit?

Answer 5

Disclose to patient as an IF unless they have elected not to know

Question 6

What are the attributes of an IF with a possible net benefit?

Answer 6

• Info revealing a non-fatal condition that Is likely to be grave or serious but that cannot be avoided or ameliorated where a patient is likely to deem the info important
• Genetic info revealing significant risk of a condition likely to be grave or serious, when that risk cannot be modified but patient t is likely to deem the info important
• Genetic info that is likely to be deemed important by a patient and can be used in reproductive decision making 1) to avoid significant risk for offspring of a condition likely to be serious or 2) to ameliorate a condition likely to be serious

Question 7

What is the recommended action for an IF with a possible net benefit?

Answer 7

May disclose to patient as an IF unless they have elected not to know

Question 8

What are the attributes of an IF with an unlikely net benefit?

Answer 8

• Info revealing a condition that is not likely to be of serious health or reproductive importance
• Information whose likely health or reproductive importance cannot be ascertained

Question 9

What is the recommended action for an IF with an unlikely net benefit?

Answer 9

Do not disclose to patient as an IF.

Question 10

Who should any IF’s be discussed with with prior to reporting?

Answer 10

The patients referring clinical geneticist