Little is known about what uncertainties patients experience after being identified to carry a pathogenic variant in a moderate-risk cancer gene as a result of undergoing multigene panel testing for cancer susceptibility. Data regarding cancer risk estimates and effectiveness of risk management strategies for these variants continues to evolve, which has the potential to evoke uncertainty. Acknowledging uncertainty during pre-and post-test discussions is imperative to helping individuals to adapt to their results. A better understanding of this population's experience of uncertainty is needed to facilitate such discussions and is the aim of the current study. Semi-structured interviews (30-60 min in length), informed by Han and colleagues' taxonomy of uncertainty in clinical genomic sequencing, were conducted to assess motivations to pursue genetic testing, areas of perceived uncertainty, and strategies for managing uncertainty among 20 carriers of pathogenic variants in two moderate-risk genes, ATM and CHEK2. We found that participants pursue genetic testing with the expectation that results will clarify cancer risks and approaches to management. Participants experience uncertainties aligning with Han's taxonomy relating to the ambiguity of specific cancer risk estimates and effectiveness of certain risk management strategies. These uncertainties influenced decisions around the uptake of risk management strategies, which were additionally impacted by clinicians' uncertainty towards such strategies. Participants employ a variety of uncertainty management approaches to cope with their anxieties. Clinicians may wish to use these findings to facilitate patient adaptation to the implications of multigene panel testing for cancer susceptibility during both pre-and post-test counseling sessions.
No abstract
Some genetic counselors (GCs) provide care in the inpatient setting. However, there is little literature on inpatient genetic counseling. The purpose of our study was to describe GC's experiences with the provision of genetic counseling services within inpatient care settings. Participants were recruited from respondents to a quantitative survey study on inpatient genetic counseling, which recruited GCs via the National Society of Genetic Counselors forum. GCs seeing at least five inpatients per year were invited to participate in semi-structured interviews. The interview guide explored how and why their inpatient genetic counseling service started, workflow, and the perceived impact of the service. Interviews were transcribed, inductive analysis was used to develop a codebook, and thematic analysis was used to identify themes.
10600 Background: Germline testing (GT) use is on the rise given testing implications for identifying cancer susceptibility and therapeutically actionable alterations. Scalable models of care that emphasize post-test, as opposed to pre-test, genetic counseling are needed to meet demand. However, little is known about the psychological impact (PI) of test result disclosure in such models. Methods: The enterprise-wide City of Hope INSPIRE study offers all consented patients GT for cancer susceptibility (155 genes) and actionable disorders (59 genes). In 2022, we surveyed a sub-set of English-speaking participants ~1 month following test result disclosure. We evaluated PI using the Feelings about Genomic Testing Results (FACToR) measure (distress/ uncertainty subscales 0-12; positive subscale 0-16) and explored associations between patient characteristics, GT results and PI. Results: Of 1000 patients surveyed, 615 completed at least one of the FACToR questions. Participants were mostly white (n=463, 75%) or Asian (n=12.52, 13%) and female (n=419, 68%) with a mean age of 62 yrs. 357 (61%) had a cancer diagnosis and most opted for both GT panels (97%). Eighteen percent had a pathogenic/likely pathogenic variant (PV/LPV) in an autosomal dominant condition, 8% were carriers for an autosomal recessive condition, 53% had at least one variant of unknown significance (VUS) and 21% had negative results. Most patients (n=583, 95%) had low levels of distress with a mean score of 1.67 (SD 2.31). Out of the 30 (5%) patients with higher levels of distress (score >7), results were similar for patients with and without cancer (5% and 4% respectively). Of the 30 patients with higher distress, 67% had a P/LPV variant (13 with and 7 without cancer). Patients also had low levels of uncertainty with a mean score of 2.22 (SD 2.61) and 93% (n=569) scored <7. For those who scored higher on uncertainty (n=44, 7%), most people had cancer and a VUS (n=16, 36%), followed by cancer and LPV/PV (n=10, 23%) followed by patient without cancer with a VUS (n=6, 14%). Finally, 56% (n=44) had high positivity scores (9-16); mean 9.18 (SD 4.31). Fifty-six percent of patients felt a “good/great deal” happy about their GT and 54% were a good/great deal relieved about their results. Conclusions: After implementing an enterprise-wide germline testing program with an emphasis on robust post-test genetic counseling, we found very little evidence of post-disclosure distress or uncertainty. Similar to prior studies, we found that a small proportion of patients may be more vulnerable to negative PI. More work is needed to prospectively identify at risk patients to provide support to this population as we continue to develop safe, effective, and scalable models of care.
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