Germline Genetic Testing After Cancer Diagnosis.

Importance: Germline genetic testing is recommended by practice guidelines for patients diagnosed with cancer to enable genetically targeted treatment and identify relatives who may benefit from personalized cancer screening and prevention. Objective: To describe the prevalence of germline genetic testing among patients diagnosed with cancer in California and Georgia between 2013 and 2019. Design, Setting, and Participants: Observational study including patients aged 20 years or older who had been diagnosed with any type of cancer between January 1, 2013, and March 31, 2019, that was reported to statewide Surveillance, Epidemiology, and End Results registries in California and Georgia. These patients were linked to genetic testing results from 4 laboratories that performed most germline testing for California and Georgia. Main Outcomes and Measures: The primary outcome was germline genetic testing within 2 years of a cancer diagnosis. Testing trends were analyzed with logistic regression modeling. The results of sequencing each gene, including variants associated with increased cancer risk (pathogenic results) and variants whose cancer risk association was unknown (uncertain results), were evaluated. The genes were categorized according to their primary cancer association, including breast or ovarian, gastrointestinal, and other, and whether practice guidelines recommended germline testing. Results: Among 1 369 602 patients diagnosed with cancer between 2013 and 2019 in California and Georgia, 93 052 (6.8%) underwent germline testing through March 31, 2021. The proportion of patients tested varied by cancer type: male breast (50%), ovarian (38.6%), female breast (26%), multiple (7.5%), endometrial (6.4%), pancreatic (5.6%), colorectal (5.6%), prostate (1.1%), and lung (0.3%). In a logistic regression model, compared with the 31% (95% CI, 30%-31%) of non-Hispanic White patients with male breast cancer, female breast cancer, or ovarian cancer who underwent testing, patients of other races and ethnicities underwent testing less often: 22% (95% CI, 21%-22%) of Asian patients, 25% (95% CI, 24%-25%) of Black patients, and 23% (95% CI, 23%-23%) of Hispanic patients (P < .001 using the χ2 test). Of all pathogenic results, 67.5% to 94.9% of variants were identified in genes for which practice guidelines recommend testing and 68.3% to 83.8% of variants were identified in genes associated with the diagnosed cancer type. Conclusions and Relevance: Among patients diagnosed with cancer in California and Georgia between 2013 and 2019, only 6.8% underwent germline genetic testing. Compared with non-Hispanic White patients, rates of testing were lower among Asian, Black, and Hispanic patients.

Cascade Genetic Risk Education and Testing in Families With Hereditary Cancer Syndromes: A Pilot Study.

PURPOSE: Cascade genetic risk evaluation in families with hereditary cancer can reduce the burden of disease but the rate of germline genetic testing in relatives of patients at risk is low. METHODS: We identified all 277 women diagnosed with breast cancer in Georgia in 2017 who linked to a clinically actionable germline pathogenic variant through a Surveillance, Epidemiology, and End Results registry-variant linkage initiative. We surveyed them, and then invited eligible respondents to an online platform hosted by a navigator that offered cancer genetic risk education and germline genetic testing to untested relatives. We randomly assigned patient-family clusters at the time of the patient enrollment offer to free versus $50 (USD) test cost. Patients invited relatives to join the study through personalized e-mail. Enrolled relatives received online cancer genetic education and the opportunity to order clinical germline genetic testing through the platform. The primary outcome was the number of relatives who ordered genetic testing. RESULTS: One hundred twenty-five of 277 patients completed surveys (45.2%). Most respondents were eligible for the trial offer (113 of 125; 90.4%). In the free testing arm, 20 of 56 eligible patients participated (35.7% of eligible respondents) and they invited 28 relatives: 12 relatives enrolled and 10 ordered testing. In the $50 (USD) arm, 16 of 57 eligible patients participated (28.1%) and they invited 38 relatives: 18 relatives enrolled and 17 ordered testing. CONCLUSION: Cascade genetic testing in families with hereditary cancer syndromes accrued through a population-based cancer registry can be achieved through an online platform that offers genetic risk education and low-cost testing to relatives. A modest charge did not appear to influence the percentage of participating patients, numbers of participating relatives, and numbers of relatives who received genetic testing.

Development and psychometric properties of a brief measure of subjective decision quality for breast cancer treatment.

BACKGROUND: Breast cancer patients face several preference-sensitive treatment decisions. Feelings such as regret or having had inadequate information about these decisions can significantly alter patient perceptions of recovery and recurrence. Numerous objective measures of decision quality (e.g., knowledge assessments, values concordance measures) have been developed; there are far fewer measures of subjective decision quality and little consensus regarding how the construct should be assessed. The current study explores the psychometric properties of a new subjective quality decision measure for breast cancer treatment that could be used for other preference sensitive decisions. METHODS: 320 women aged 20-79 diagnosed with AJCC stage 0 - III breast cancer were surveyed at two cancer specialty centers. Decision quality was assessed with single items representing six dimensions: regret, satisfaction, and fit as well as perceived adequacy of information, time, and involvement. Women rated decision quality for their overall treatment experience and surgery, chemotherapy, and radiation decisions separately. Principle components was used to explore factor structure. After scales were formed, internal consistency was computed using Cronbach's alpha. The association of each of the four final scales with patient characteristics scores was examined by Pearson correlation. RESULTS: For overall breast cancer treatment as well as surgery, chemotherapy, and radiation decisions, the six items yielded a single factor solution. Factor loadings of the six decision items were all above .45 across the overall and treatment-specific scales, with the exception of "Right for You" for chemotherapy and radiation. Internal consistency was 0.77, 0.85, 0.82, and 0.78 for the overall, surgery, chemotherapy, and radiation decision quality scales, respectively. CONCLUSIONS: Our measure of subjective appraisal of breast cancer treatment decisions includes 5 related elements; regret and satisfaction as well as perceived adequacy of information, time, and involvement. Future research is needed to establish norms for the measure as is further psychometric testing, particularly to examine how it is associated with outcomes such as quality of life, psychological coping and objective decision quality.