Use and Patient-Reported Outcomes of Clinical Multigene Panel Testing for Cancer Susceptibility in the Multicenter Communication of Genetic Test Results by Telephone Study

Purpose Multigene panels (MGPs) are increasingly being used despite questions regarding their clinical utility and no standard approach to genetic counseling. How frequently genetic providers use MGP testing and how patient-reported outcomes (PROs) differ from targeted testing (eg, BRCA1/2 only) are unknown. Methods We evaluated use of MGP testing and PROs in participants undergoing cancer genetic testing in the multicenter Communication of Genetic Test Results by Telephone study (ClinicalTrials.gov identifier: NCT01736345), a randomized study of telephone versus in-person disclosure of genetic test results. PROs included genetic knowledge, general and state anxiety, depression, cancer-specific distress, uncertainty, and satisfaction. Genetic providers offered targeted or MGP testing based on clinical assessment. Results Since the inclusion of MGP testing in 2014, 395 patients (66%) were offered MGP testing. MGP testing increased over time from 57% in 2014 to 66% in 2015 ( P = .02) and varied by site (46% to 78%; P < .01). Being offered MGP testing was significantly associated with not having Ashkenazi Jewish ancestry, having a history of cancer, not having a mutation in the family, not having made a treatment decision, and study site. After demographic adjustment, patients offered MGP testing had lower general anxiety ( P = .04), state anxiety ( P = .03), depression ( P = .04), and uncertainty ( P = .05) pre-disclosure compared with patients offered targeted testing. State anxiety ( P = .05) and cancer-specific distress ( P = .05) were lower at disclosure in the MGP group. There was a greater increase in change in uncertainty ( P = .04) among patients who underwent MGP testing. Conclusion MGP testing was more frequently offered to patients with lower anxiety, depression, and uncertainty and was associated with favorable outcomes, with the exception of a greater increase in uncertainty compared with patients who had targeted testing. Addressing uncertainty may be important as MGP testing is increasingly adopted.

Download Full-text

Patient-reported outcomes in a multicenter randomized study of in-person versus telephone disclosure of genetic test results for cancer susceptibility.

Journal of Clinical Oncology ◽

10.1200/jco.2016.34.15_suppl.1502 ◽

2016 ◽

Vol 34 (15_suppl) ◽

pp. 1502-1502

Author(s):

Angela R. Bradbury ◽

Linda J. Patrick-Miller ◽

Brian L. Egleston ◽

Olufunmilayo I. Olopade ◽

Michael J. Hall ◽

...

Keyword(s):

Patient Reported Outcomes ◽

Genetic Test ◽

Cancer Susceptibility ◽

Randomized Study ◽

Test Results ◽

Genetic Test Results ◽

Patient Reported

Download Full-text

Randomized trial of web-based genetic education versus usual care in advanced cancer patients undergoing tumor genetic testing: Results from the ECOG-ACRIN NCI Community Oncology Research Program (NCORP; EAQ152) COMET trial.

Journal of Clinical Oncology ◽

10.1200/jco.2020.38.15_suppl.2008 ◽

2020 ◽

Vol 38 (15_suppl) ◽

pp. 2008-2008

Author(s):

Angela R. Bradbury ◽

Ju-Whei Lee ◽

Jill B Gaieski ◽

Shuli Li ◽

Ilana F Gareen ◽

...

Keyword(s):

Genetic Testing ◽

Usual Care ◽

Genetic Test ◽

Genetic Knowledge ◽

Test Results ◽

Advanced Cancer Patients ◽

Web Based ◽

Genetic Test Results ◽

Anxiety Depression ◽

Web Intervention

2008 Background: Enthusiasm for precision oncology may obscure the complex psychosocial and ethical considerations for tumor genetic testing. Low patient genetic knowledge has been documented and heightens the risk for adverse experiences. We developed a web-based intervention to increase genetic knowledge and decrease distress among advanced cancer patients undergoing tumor genetic testing. Methods: 594 patients (80% from NCORP Community Sites) were recruited and randomized to web-intervention (n = 293) or usual care (n = 301), prior to receipt of tumor genetic test results. Primary outcomes were genetic knowledge, anxiety, depression, and cancer-specific distress measured at T0 (prior to intervention), T1 (post-intervention), T2 (after receipt of tumor results) and T3 (3 months post receipt of tumor results). Secondary outcomes included satisfaction, regret and disappointment. The effect of web-intervention was evaluated using t-test, multiple linear regression and logistic regression, with an intent-to-treat approach. Results: Patients randomized to web-intervention had better knowledge improvement than those randomized to usual care (T1-T0, p < 0.0001; T2-T0, p = 0.003). No difference was observed in change scores for anxiety, depression or cancer-specific distress. To find the moderators of intervention effect (including sex, age, education, and literacy) two 2-way interactions were noted with statistical significance: higher depression among those in the intervention arm versus the control arm for patients with lower literacy (p = 0.03); and lower cancer-specific distress among women in the intervention arm than with usual care but no such effect noted in men (p = 0.01). 71% of patients reported receiving tumor test results and this did not differ by arm. Only 20% of patients reported regret and disappointment at T2, which was more likely for those without a mutation of interest (MOI) detected vs those with a MOI detected (OR = 2.08, 95% CI, 1.13 to 3.83, p = 0.02). Conclusions: Web-based education prior to receipt of tumor genetic test results increases patient understanding of tumor genetic testing. While the intervention did not significantly reduce distress, results suggest that women who received the intervention had lower cancer-specific distress than those with usual care. Future refinements to the web-intervention are needed to address low literacy groups, men and patients with no actionable results. Clinical trial information: NCT02823652.

Download Full-text

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

Human Mutation ◽

10.1002/humu.20880 ◽

2008 ◽

Vol 29 (11) ◽

pp. 1282-1291 ◽

Cited By ~ 528

Author(s):

Sharon E. Plon ◽

Diana M. Eccles ◽

Douglas Easton ◽

William D. Foulkes ◽

Maurizio Genuardi ◽

...

Keyword(s):

Genetic Test ◽

Cancer Susceptibility ◽

Sequence Variant ◽

Variant Classification ◽

Test Results ◽

Genetic Test Results ◽

Reporting Recommendations

Download Full-text

The Search for an Explanation: Breast Cancer in the Context of Genetic Inheritance

The Qualitative Report ◽

10.46743/2160-3715/2009.1396 ◽

2014 ◽

Author(s):

Christine Maheu

Keyword(s):

Breast Cancer ◽

Genetic Test ◽

Cancer Susceptibility ◽

Structured Interview ◽

Breast Cancer Susceptibility ◽

Breast Cancers ◽

Test Results ◽

Her Family ◽

Genetic Test Results

This case study is an in-depth examination of how Erika (a pseudonym) interpreted and understood her genetic test results for breast cancer susceptibility. Her experience is presented in the form of a biography, which was built from key passages retrieved from the semi structured interview the author conducted at Erikas home. The interview data showed that Erikas interpretation and understanding of her inconclusive test results were embedded in her own and her familys experiences with breast cancer. Her interpretation of her test results was influenced by perception of risk for future breast cancers for herself and her family, as well as from the continued etiological uncertainty of her current breast cancer. Although unfinished, Erikas experience of receiving inconclusive genetic test results for breast cancer susceptibility provides examples of possible universal themes within the experience of others who receive similar test results.

Download Full-text

Parents' long-term adjustment to the genetic test results of minors at risk for Long QT Syndrome

PsycEXTRA Dataset ◽

10.1037/e524332011-015 ◽

2004 ◽

Author(s):

K. S. W. H. Hendriks ◽

F. J. M. Grosfeld ◽

A. A. M. Wilde ◽

J. van den Bout ◽

I. M. van Langen ◽

...

Keyword(s):

At Risk ◽

Long Qt Syndrome ◽

Genetic Test ◽

Test Results ◽

Long Qt ◽

Genetic Test Results ◽

Qt Syndrome

Download Full-text

Supplemental Material for Behavioral Impact of Return of Genetic Test Results for Complex Disease: Systematic Review and Meta-Analysis

Health Psychology ◽

10.1037/hea0000683.supp ◽

2018 ◽

Keyword(s):

Systematic Review ◽

Complex Disease ◽

Genetic Test ◽

Meta Analysis ◽

Test Results ◽

Genetic Test Results ◽

Behavioral Impact

Download Full-text

Metagnosis

10.1093/oso/9780197510766.001.0001 ◽

2020 ◽

Author(s):

Danielle Spencer

Keyword(s):

Real World ◽

Genetic Test ◽

Narrative Medicine ◽

Test Results ◽

Diagnostic Categories ◽

Genomic Knowledge ◽

Blade Runner ◽

Genetic Test Results ◽

Scant Attention ◽

Productive Model

This book identifies and names the phenomenon of metagnosis: the experience of newly learning in adulthood of a long-standing condition. It can occur when the condition has remained undetected (e.g., colorblindness) and/or when the diagnostic categories themselves have shifted (e.g., ADHD). More broadly, it can occur with unexpected revelations bearing upon selfhood, such as surprising genetic test results. This phenomenon has received relatively scant attention, yet learning of an unknown condition is frequently a significant and bewildering revelation, subverting narrative expectations and customary categories. In addressing the topic this book deploys an evolution of narrative medicine as a robust research methodology comprising interdisciplinarity, narrative attentiveness, and creating a writerly text. Beginning with the author’s own experience of metagnosis, it explores the issues it raises—from communicability to narrative intelligibility to different ways of seeing. Next, it traces the distinctive metagnostic narrative arc through the stages of recognition, subversion, and renegotiation, discussing this trajectory in light of a range of metagnostic experiences, from Blade Runner to real-world midlife diagnoses. Finally, it situates metagnosis in relation to genetic revelations and the broader discourses concerning identity. Proposing that the figure of blindsight—drawn from the author’s metagnostic experience—offers a productive model for negotiating such revelations, the book suggests that better understanding metagnosis will not simply aid those directly affected but will also serve as a bellwether for how we will all navigate advancing biomedical and genomic knowledge, and how we may fruitfully interrogate the very notion of identity.

Download Full-text