Skip to main content
. Author manuscript; available in PMC: 2015 Oct 15.
Published in final edited form as: Per Med. 2015;12(3):283–295. doi: 10.2217/pme.14.89

Table 1.

Summary of themes, lessons learned and challenges specific to the return of exome and genome sequencing results.

Theme Lesson(s) learned Challenges specific to exome and genome sequencing
Managing expectations in pretest and post-test counseling, negative findings do not mean the condition is not genetic Elicit perceived goals and expectations both during informed consent and after return of results to identify and address misconceptions Belief that all pathogenic genetic variation can be identified and the clinical significance will be clear
Context matters: follow-up for recommendations from IFs in healthy and ill patient-participants Both healthy and ill patient-participants who receive IFs may face challenges with adherence to screening/testing recommendations. Ill patient-participants may focus on the diagnostic results and over-interpret a negative result as ‘good news’ Limited pretest discussion of the unanticipated condition(s) and implications of results. (Ill) Emphasizing importance of follow-up for medically actionable IFs in the context of more acute concerns. (Healthy) Lack of personal/family history may affect motivation and access to care
Considerations for returning large amounts of data Discussing multiple findings may require two or more visits, separate report sections for the discussion of each finding and an accompanying counseling letter Returning and discussing several additional findings unrelated to the primary diagnosis
Differing responses from families to the same result Identify and explore unique thoughts and emotions of the patient-participant Anticipating reactions when the range of possible results has not been discussed in detail prior to testing
Challenges with follow-up testing for family members of sequenced patient- participants Targeted clinical follow-up testing may not be available to or feasible for relatives/partners Follow-up testing for genes covered by genome/exome testing may not be available outside of a research study
Navigating the atypical presentation of well-known Mendelian condition Challenging to identify resources, anticipate future medical implications and predict the manifestation of the condition in other family members Providing genetic counseling for patients with atypical presentations will take more time and take place more often than with targeted gene sequencing
Deceased patients and communicating results with family members Establish a plan during informed consent regarding whom, if anyone, to return results to posthumously including what type of results to share Deciding what results to share from broad range of possible findings increased likelihood due to use of exome and genome sequencing tests in later stage cancer patients

IF: Incidental finding.