Informing models of cancer genetics care in the era of multigene panel testing with patient‐led recommendations

Abstract

The study describes patient‐reported experiences and recommendations to improve the genetic counseling and multigene panel testing (MGPT) process. A descriptive mixed‐method study with concurrently collected and integrated qualitative and quantitative data was conducted. Eligible participants were English‐speaking adults with a breast or gynecologic cancer diagnosis who had received genetic counseling and testing with a MGPT from one Comprehensive Cancer Center. Satisfaction with the genetic counseling, genetic knowledge using a recently validated scale (KnowGene), the multidimensional impact of cancer risk assessment (MICRA), family communication, and the association with demographic factors were evaluated. To supplement the large quantitative data set, qualitative focus group responses and open‐ended text items were collected. Univariate and multivariable associations between each outcome of interest and personal characteristics were assessed. Qualitative data were content‐analyzed. 603 participants completed the survey (48% response rate) and 10 individuals participated in the focus groups. Participants were mostly Caucasian, educated with a college degree or more, and female with median age 58 (24–91), and 78% of participants had a breast cancer diagnosis. Of all individuals undergoing genetic testing using a MGPT, 13% had a pathogenic variant identified, and 30% had a variant of uncertain significance (VUS). Overall, participants reported satisfaction with the genetic counseling and testing process (mean 36.9 [SD 4.7]). On average, participants had 7 incorrect answers out of 19 on the genetic knowledge scale (mean 12.3 [SD 3.4]). MICRA scores showed overall low levels of distress and uncertainty, as well as positive experiences, with wide variability (median 17 [0–84]). Age, marital status, education level, type of cancer diagnosis, and genetic testing results were significantly associated with outcomes. Most participants communicated genetic testing results to mainly female first‐degree relatives. A wide range of individual preferences affecting overall satisfaction, or suggestions for improvement were shared. As new models of streamlined cancer genetic services are being clinically implemented, approaches should continue to assess and tailor the process based on patients’ informational and emotional needs.

Knowledge and psychosocial impact of genetic counseling and multigene panel testing among individuals with ovarian cancer

“…The positive experience subscale is reverse scored so that a higher score indicates a less positive experience. In the parent study, the MICRA was found to be reliable with a Cronbach alpha of 0.83 for the total scale, 0.88 for the distress subscale, 0.78 for the uncertainty subscale, and 0.77 for the positive experience subscale [21].…”

“…Specific cancer genetics knowledge needs were identified by calculating the proportion of participants who selected the correct response for each item on the KnowGene scale. Based on findings in the parent study, the following factors were assessed for potential associations with MICRA and KnowGene scores: marital status (married/partnered vs. not), educational attainment (college graduate vs. not), annual household income (less than $50,000 vs. $50,000 or more), race/ethnicity (white, non-Hispanic vs. not), pathogenic gene variant (BRCA vs. not), and genetic test result (positive vs. not, negative vs. not, and VUS vs. not) [21]. Consistent with the parent study, a square root transformation was applied to MICRA total and subscale scores to account for positively skewed distributions of these scores.…”

“…This was a secondary analysis of quantitative and qualitative data collected as part of a larger study of cancer survivors' experiences undergoing genetic counseling and multigene panel testing [21]. The parent study used a convergent parallel mixed methods design.…”

“…Cancer genetics knowledge related to multigene panel testing was measured using the KnowGene scale [23], which had a Cronbach alpha of 0.78 in the parent study [21]. The KnowGene scale was developed by members of our study team and is comprised of 19 items with three response options: "agree," "disagree," and "don't know" [23].…”

“…Participants were recruited from a single National Cancer Institute-designated cancer center. The genetic counseling and multigene panel testing process at this institution has been described in detail elsewhere [21]. Briefly, genetic counseling and multigene panel testing at this institution are integrated into routine ovarian cancer care.…”