Comparison of Germline Genetic Testing Before and After a Medical Policy Covering Universal Testing Among Patients With Colorectal Cancer

Moretz, Chad; Byfield, Stacey DaCosta; Hatchell, Kathryn E.; Dalton, Joline; Onglao, Peter Nicholas; Hang, Lillian; Hansen, Pamela; Radford, Cristi; Nielsen, Sarah M.; Heald, Brandie; Munro, Sandra B.; Nussbaum, Robert L.; Esplin, Edward D.

doi:10.1001/jamanetworkopen.2022.38167

Cited by 9 publications

(9 citation statements)

References 40 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, in a study of a pipeline protocol in a large single institution in which genetic counselors determined the eligibility for germline testing following tumor sequencing and sent emails to ordering providers, 60% of patients still did not undergo germline analysis 27. Additional systems based approaches are needed to better identify carriers of germline pathogenic variants 27 28…”

Section: Discussionmentioning

confidence: 99%

Frequency of actionable germline pathogenic variants identified through tumor next-generation sequencing in a gynecologic cancer cohort

Karpel

Manderski

Pothuri

2023

Int J Gynecol Cancer

View full text Add to dashboard Cite

BackgroundTumor next-generation sequencing can identify potential germline pathogenic variants associated with cancer susceptibility.ObjectiveTo describe the frequency of tumor sequencing results that met European Society of Medical Oncology (ESMO) recommendations for further germline genetic testing, and the frequency of germline variants among a cohort with gynecologic cancer.MethodsPatients with gynecologic cancer who underwent tumor sequencing between September 2019 and February 2022 in a large healthcare system in New York City were retrospectively identified. Eligible patients with suspected germline pathogenic variants on tumor sequencing were identified based on ESMO guidelines. Logistic regression was used to explore variables associated with referral and completion of germline testing.ResultsOf 358 patients with gynecologic cancers who underwent tumor sequencing, 81 (22.6%) had ≥1 suspected germline variant according to ESMO guidelines. Of the 81 patients with qualifying tumor sequencing results, 56 (69.1%) received germline testing: 41/46 (89.1%) eligible patients with ovarian cancer and 15/33 (45.5%) with endometrial cancer. In the endometrial cancer cohort, 11/33 (33.3%) eligible patients were not referred for germline testing and the majority of these patients had tumor variants in genes commonly known to cause hereditary cancer. Of the 56 patients who underwent germline testing, 40 (71.4%) had pathogenic germline variants. In multivariable analysis, race/ethnicity other than non-Hispanic white was associated with lower odds of germline testing referral and completion (OR=0.1, 95% CI 0.01 to 0.5 and OR=0.2, 95% CI 0.04 to 0.6, respectively).ConclusionGiven the high rate of pathogenic germline variant detection and the importance of identifying such variants for both patients and their family, it is imperative that eligible patients undergo germline testing. Additional education for providers on multidisciplinary guidelines and development of clinical pathways to ensure germline testing of suspected pathogenic variants identified on tumor sequencing is warranted, especially in light of the racial/ethnic inequity observed.

show abstract

Section: Discussionmentioning

confidence: 99%

Frequency of actionable germline pathogenic variants identified through tumor next-generation sequencing in a gynecologic cancer cohort

Karpel

Manderski

Pothuri

2023

Int J Gynecol Cancer

View full text Add to dashboard Cite

show abstract

“…Patients were asked to report all primary cancer types, date of cancer diagnosis, treatment received, and genetic testing status. The PHQ-4 was used to measure anxiety and depression; respondents scores were dichotomized by either none (0-2) or mild to severe (3)(4)(5)(6)(7)(8)(9)(10)(11)(12). 25 As part of the survey, participants were asked if they had undergone cancer genetic testing.…”

Section: Methodsmentioning

confidence: 99%

“… 5 Patients at risk for Lynch Syndrome diagnosed with either colorectal or endometrial cancer have even lower levels of testing with one study reporting a rate around 6% and another study reporting a rate around 3%. 6 , 7 Germline genetic testing for patients with cancer can have significant impact on their cancer treatment and surveillance as well as implications for family members.…”

Section: Introductionmentioning

confidence: 99%

“…Another study found that among women with breast cancer who qualify for genetic testing per NCCN guidelines, only about 60% were referred and about 46% completed testing indicating that despite a referral, there is still a reduction of uptake in germline testing 5 . Patients at risk for Lynch Syndrome diagnosed with either colorectal or endometrial cancer have even lower levels of testing with one study reporting a rate around 6% and another study reporting a rate around 3% 6,7 . Germline genetic testing for patients with cancer can have significant impact on their cancer treatment and surveillance as well as implications for family members.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Psychosocial factors impacting barriers and motivators to cancer genetic testing

et al. 2023

View full text Add to dashboard Cite

Background Only a small proportion of patients who qualify for clinical genetic testing for cancer susceptibility get testing. Many patient‐level barriers contribute to low uptake. In this study, we examined self‐reported patient barriers and motivators for cancer genetic testing. Methods A survey comprised of both new and existing measures related to barriers and motivators to genetic testing was emailed to patients with a diagnosis of cancer at a large academic medical center. Patients who self‐reported receiving a genetic test were included in these analyses ( n = 376). Responses about emotions following testing as well as barriers and motivators prior to getting testing were examined. Group differences in barriers and motivators by patient demographic characteristics were examined. Results Being assigned female at birth was associated with increased emotional, insurance, and family concerns as well as increased health benefits compared to patients assigned male at birth. Younger respondents had significantly higher emotional and family concerns compared to older respondents. Recently diagnosed respondents expressed fewer concerns about insurance implications and emotional concerns. Those with a BRCA‐related cancer had higher scores on social and interpersonal concerns scale than those with other cancers. Participants with higher depression scores indicated increased emotional, social and interpersonal, and family concerns. Conclusions Self‐reported depression emerged as the most consistent factor influencing report of barriers to genetic testing. By incorporating mental health resources into clinical practice, oncologists may better identify those patients who might need more assistance following through with a referral for genetic testing and the response afterwards.

show abstract

“…It is important to conduct genetic testing during the diagnostic process in CRC, as 5% to 15% of cases are caused by inherited cancer susceptibility genes. 5,6 Identifying TP53 mutation status correlates with higher stage and influences the overall survival rate. 7 EGFR inhibitor therapies are not effective for CRC patients with positive mutations in KRAS, BRAF, PI3KCA, and PTEN, highlighting the need for accurate genetic mutation status, that will ensure successful selection of individualized therapy.…”

Section: Introduction 1backgroundmentioning

confidence: 99%

Using an Anomaly Detection Approach for the Segmentation of Colorectal Cancer Tumors in Whole Slide Images

Gu¹,

Meroueh²,

Levernier³

et al. 2023

Preprint

View full text Add to dashboard Cite

Colorectal cancer (CRC) is the 2nd most commonly diagnosed cancer in the United States. Genetic testing is critical in assisting in the early detection of CRC and selection of individualized treatment plans, which have shown to improve the survival rate of CRC patients. The tissue slides review (TSR), a tumor tissue macro-dissection procedure, is a required pre-analytical step to perform genetic testing. Due to the subjective nature of the process, major discrepancies in CRC diagnostics by pathologists are reported, and metrics for quality are often only qualitative. Progressive context encoder anomaly detection (P-CEAD) is an anomaly detection approach to detect tumor tissue from Whole Slide Images (WSIs), since tumor tissue is by its nature, an anomaly. P-CEAD-based CRC tumor segmentation achieves a 71% ± 26% sensitivity, 92% ± 7% specificity, and 63% ± 23% F1 score. The proposed approach provides an automated CRC tumor segmentation pipeline with a quantitatively reproducible quality compared with the conventional manual tumor segmentation procedure.

show abstract

Comparison of Germline Genetic Testing Before and After a Medical Policy Covering Universal Testing Among Patients With Colorectal Cancer

Cited by 9 publications

References 40 publications

Frequency of actionable germline pathogenic variants identified through tumor next-generation sequencing in a gynecologic cancer cohort

Frequency of actionable germline pathogenic variants identified through tumor next-generation sequencing in a gynecologic cancer cohort

Psychosocial factors impacting barriers and motivators to cancer genetic testing

Using an Anomaly Detection Approach for the Segmentation of Colorectal Cancer Tumors in Whole Slide Images

Contact Info

Product

Resources

About