scholarly journals Implementation of an embedded in‐clinic genetic testing station to optimize germline testing for patients with pancreatic adenocarcinoma

2021 ◽  
Author(s):  
Evan J. Walker ◽  
Dena Goldberg ◽  
Kelly M Gordon ◽  
Christina Pedley ◽  
Julia Carnevale ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Pancreatic Adenocarcinoma ◽  
Germline Testing

Clinical impact of medical policy supporting universal germline testing for patients with colorectal cancer.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 10514-10514
Author(s):  
Sarah M. Nielsen ◽  
Joline Dalton ◽  
Kathryn E. Hatchell ◽  
Stacey DaCosta Byfield ◽  
Chad Moretz ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Genetic Testing ◽  
Clinical Information ◽  
The United States ◽  
Clinical Treatment ◽  
Administrative Claims ◽  
Treatment Trials ◽  
Precision Therapy ◽  
Medical Policy ◽  
Germline Testing

10514 Background: Colorectal cancer (CRC) affects approximately 104,000 patients (pts) annually in the United States, up to 45% of which are estimated to be genetic and/or familial. Aligned with clinical guidelines, in 2020, a large U.S. insurer established Medical Policy allowing for and reimbursing germline genetic testing (GGT) for all CRC pts. This study reports overall uptake of GGT in CRC pts under this inclusive policy, actionable findings and treatment implications for pts tested, stratified by self-reported ancestry/ethnicity. Methods: Two independent de-identified datasets were reviewed, including administrative claims data of commercially insured and Medicare Advantage enrollees, aged 18+ with CRC (≥1 claim with ICD10 C18, C19 or C20 in the first position) who were continuously enrolled (CE) in the health plan from 1/2019-10/2020. Evidence of genetic testing based on CPT codes, was examined during 2020. A second de-identified dataset of CRC pts whose GGT was billed to the insurer under the Medical Policy, was also reviewed. Patient demographics, clinical information and GGT results were descriptively analyzed. Results: Of the >18,000,000 CE enrollees, 55,595 were identified as CRC pts, of whom 1,675 (3%) received GGT. From the GGT dataset, 788 pts had test results available for review. 143 (18%) pts had pathogenic/likely pathogenic (P/LP) variants in genes including MSH2, MLH1, PMS2, MSH6, CHEK2, APC, BRCA2, ATM, MUTYH (biallelic). Of pts with P/LP variants, 96 (67%) were potentially eligible for precision therapy and/or clinical treatment trials. Overall, 133 (93%) had P/LP variants in genes with precision therapy, clinical trial and/or published management implications. In a subset of pts (n=674) with ethnicity data; Asian, Black/African-American and Hispanic pts showed lower relative uptake of germline testing than Caucasians (Table). Conclusions: Despite Medical Policy allowing for GGT for all pts with CRC, only 3% of eligible pts received testing. If all CRC pts had been tested, these data suggest up to 6,705 pts with P/LP variants conferring potential eligibility for precision therapy (PD-1/PD-L1 inhibitors) or clinical treatment trials (PARP inhibitors), and an additional 2,602 pts with mutations in genes with published management recommendations, could have been identified, but were missed. Additional research is needed to identify obstacles to systematic implementation of this Medical Policy, the best timing of GGT to prevent CRC and improve access to underrepresented populations. CRC patients with germline genetic testing.[Table: see text]

scholarly journals Prospective study of germline genetic testing in incident cases of pancreatic adenocarcinoma

Cancer ◽  
2018 ◽  
Vol 124 (17) ◽  
pp. 3520-3527 ◽  
Author(s):  
Randall Brand ◽  
Erkut Borazanci ◽  
Virginia Speare ◽  
Beth Dudley ◽  
Eve Karloski ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Prospective Study ◽  
Pancreatic Adenocarcinoma ◽  
Incident Cases

Improving cascade genetic testing for families with inherited pancreatic cancer (PDAC) risk: The genetic education, risk assessment and testing (GENERATE) study.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. TPS4162-TPS4162
Author(s):  
Matthew B. Yurgelun ◽  
C. Sloane Furniss ◽  
Barbara Kenner ◽  
Alison Klein ◽  
Catherine C. Lafferty ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Cancer Susceptibility ◽  
Genetic Counselor ◽  
Cancer Worry ◽  
Genetic Education ◽  
Degree Relative ◽  
Cascade Testing ◽  
Pathogenic Variants ◽  
Cancer Susceptibility Genes ◽  
Germline Testing

TPS4162 Background: 4-10% of PDAC patients harbor pathogenic germline variants in cancer susceptibility genes, including APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, and TP53. For families with such pathogenic variants, the greatest potential impact of germline testing is to identify relatives with the same pathogenic variant (cascade testing), thereby providing the opportunity for early detection and cancer interception of PDAC and other associated malignancies. Numerous factors limit cascade testing in real-world practice, including family dynamics, widespread geographic distribution of relatives, access to genetic services, and misconceptions about the importance of germline testing, such that the preventive benefits of cascade testing are often not fully realized. The primary aim of this study is to analyze two alternative strategies for cascade testing in families with inherited PDAC susceptibility. Methods: 1000 individuals (from approximately 200 families) with a confirmed pathogenic germline variant in any of the above genes in a 1st/2nd degree relative and a 1st/2nd degree relative with PDAC will be remotely enrolled through the study website (www.generatestudy.org) and randomized between two different methods of cascade testing (individuals with prior genetic testing will be ineligible): Arm 1 will undergo pre-test genetic education with a pre-recorded video and live interactive session with a genetic counselor via a web-based telemedicine platform (Doxy.me), followed by germline testing through Color Genomics; Arm 2 will undergo germline testing through Color Genomics without dedicated pre-test genetic education. Color Genomics will disclose results to study personnel and directly to participants in both arms. Participants in both arms will have the option of pursuing additional telephone-based genetic counseling through Color Genomics. The primary outcome will be uptake of cascade testing. Secondary outcomes will include participant self-reported genetic knowledge, cancer worry, distress, decisional preparedness, familial communication, and screening uptake, which will be measured via longitudinal surveys. Enrollment will begin February, 2019. Clinical trial information: NCT03762590.

Diagnostic yield and clinical utility of germline genetic testing following somatic testing in breast cancer patients.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 1092-1092
Author(s):  
Stephen E Lincoln ◽  
Kingshuk Das ◽  
Nhu Ngo ◽  
Sarah M. Nielsen ◽  
Scott T. Michalski ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Cancer Patients ◽  
Diagnostic Yield ◽  
Gene Mutations ◽  
Breast Cancer Diagnosis ◽  
Consecutive Series ◽  
Breast Cancer Patients ◽  
Tumor Sequencing ◽  
Germline Testing

1092 Background: Germline genetic testing is recommended for breast cancer patients with specific presentations or family histories. Separately, tumor DNA sequencing is increasingly used to inform therapy, most often in patients with advanced disease. Recent NCCN and ESMO guidelines recommend germline testing following somatic testing, under specific circumstances and for specific genes. We examined the utility of germline findings in patients referred for both test modalities. Methods: We reviewed somatic and germline mutations in a consecutive series of patients who: (a) had a current or previous breast cancer diagnosis, (b) were referred for germline testing, and (c) previously received tumor sequencing. Diverse reasons for germline testing included: a tumor finding of potential germline origin, treatment or surgical planning, personal or family history, and patient concern. Results: 227 patients met study criteria of whom 88 (39%) harbored a pathogenic germline variant (PGV) in a high or moderate risk cancer predisposition gene. Mutations in certain genes were most likely to be of germline origin, and most PGVs were potentially actionable (Table). 13% of PGVs were not reported by tumor tests as either germline or somatic findings, usually a result of tumor test limitations. Of note, 27 of the patients with PGVs (31%) had these variants uncovered only after presenting with a second, possibly preventable, malignancy. Conclusions: Germline testing following tumor sequencing often yielded findings that may impact care. Indeed, the 39% PGV rate we observed suggests that such testing may be underutilized. We observed actionable PGVs missed by somatic tests, PGVs uncovered in patients’ second malignancies, and PGVs not within germline reflex testing criteria. These results reinforce the utility of germline testing separate from somatic testing in appropriate patients. [Table: see text]

Landscape of germline mutations in 1144 patients (Pts) with gastrointestinal (GI) cancers.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e13660-e13660
Author(s):  
Mohamed E. Salem ◽  
Lisa Amacker-North ◽  
Mariah Gleason ◽  
Aly Athens ◽  
William Mills Worrilow ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Hereditary Cancer ◽  
Cancer Susceptibility ◽  
Checkpoint Inhibitors ◽  
Susceptibility Gene ◽  
Germline Mutations ◽  
Gene Panel ◽  
Variant Of Uncertain Significance ◽  
Gi Cancer ◽  
Germline Testing

e13660 Background: The efficacy of PARP inhibitors in germline BRCA-mutated pancreatic adenocarcinoma (PC) and immune checkpoint inhibitors in dMMR colorectal cancer (CRC) shows the importance of genetic testing. We aimed to characterize the frequency of pathogenic/likely pathogenic germline variants (PLPVs) in GI cancer pts. Methods: A retrospective review of pts referred to the Levine Cancer Institute Genetics Program was conducted. Genetic testing used a focused hereditary cancer 4-43 gene panel or pan-cancer 82-84 gene panel. Results: Out of 1144 GI cancer pts seen between 2010 and 2019, 869 underwent germline testing, and 199 (23%) pts had at least one PLPV in a hereditary cancer susceptibility gene, while 253 (29.3%) had a variant of uncertain significance. Of 630 CRC pts, 24% had a PLPV and 13% harbored a germline mutation in DNA MMR genes and were diagnosed with Lynch Syndrome, representing ~50% of all pts with a PLPV. Other germline PLPVs were found in APC, ATM, BRCA1, BRCA2, CHEK2, MUTYH, and PALB2. Of 163 PC pts, 16.6% had a PLPV in ATM, BRCA2, CDKN2A, and MEN1. Gastric cancer pts (17%) had germline PLPVs in APC, BRCA2, CDH1, MLH1, and MSH2; biliary cancer pts (17%) had germline PLPVs in PALB2, RAD50, and PTCH1; and GIST pts (60%) had PLPVs in SDHA or SDHB. Conclusions: Germline mutations were found in 23% of GI cancer pts, underlining the importance of multigene germline testing. Knowledge of inherited GI cancer risk helps determine the likelihood of benefit from possible specific targeted therapies. Genetic testing and counseling pose a challenge, but implications for pts with hereditary syndromes are highly significant. [Table: see text]

Using consistent terms in precision medicine to eliminate patient confusion.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e24164-e24164 ◽  
Author(s):  
Nikki A. Martin ◽  
Sue J. Friedman ◽  
Claire Saxton ◽  
Ronit Yarden ◽  
Stacie Lindsey ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Patient Education ◽  
Precision Medicine ◽  
Working Group ◽  
Cancer Type ◽  
Plain Language ◽  
Framework Analysis ◽  
Biomarker Testing ◽  
Group Members ◽  
Germline Testing

e24164 Background: Biomarker testing has advanced precision medicine in cancer. However, not all eligible patients benefit from biomarker-driven therapies due to suboptimal testing rates. A working group of 20 patient advocacy groups representing solid/hematologic malignancies, three professional societies, and 18 pharmaceutical and diagnostics companies identified patient confusion inconsistent testing terms as a possible contributing factor to biomarker testing underutilization. The group aimed to address patients’ confusion by identifying and adopting consistent, plain language terms for biomarker and germline genetic testing that are applicable across cancer types. Methods: Following a stakeholder roundtable discussion on barriers to precision medicine, working group members participated in interviews on their goals for consistent testing terminology for their constituents. We then conducted a framework analysis covering five themes: available testing by cancer type; purpose of test; biospecimen source; terms used in patient education; and preferred plain language term. Working group members were surveyed on preferences for germline testing terminology and also deployed a preliminary patient survey to their constituents to gain insight on preferences for germline testing terms. Results: Interviews, framework analysis, and surveys revealed notable differences across cancer communities. We identified at least 33 different terms related to biomarker, genetic and genomic testing being used in patient education and clinical care among the different cancer communities and stakeholders. Terminology was complicated by the variety of testing modalities and gene mutations tested for across cancers. Following multiple discussions, working group members agreed on two umbrella terms to distinguish between somatic and germline testing with additional context for specific cancer communities. “Biomarker testing” was selected as the somatic testing term. “Genetic testing for an inherited mutation” and “genetic testing for inherited cancer risk” were selected as preferred germline testing terms. Conclusions: Our findings highlight the disparate testing terminology landscape and the need for consistent terms to reduce patient confusion, improve communication, facilitate shared decision-making and assure concordance in policy development.

scholarly journals The Future of Parallel Tumor and Germline Genetic Testing: Is There a Role for All Patients With Cancer?

2021 ◽  
Vol 19 (7) ◽  
pp. 871-878
Author(s):  
Ying L. Liu ◽  
Zsofia K. Stadler
Keyword(s):  
At Risk ◽  
Genetic Testing ◽  
Gradual Transition ◽  
Multiple Cancer ◽  
Clinical Criteria ◽  
Patients With Cancer ◽  
Traditional Paradigm ◽  
Risk Of Cancer ◽  
Germline Testing

Under the traditional paradigm of genetic testing in cancer, the role of germline testing was to assess for the inherited risk of cancer, whereas the role of tumor testing was to determine therapeutic selection. Parallel tumor-normal genetic testing uses simultaneous genetic testing of the tumor and normal tissue to identify mutations and allows their classification as either germline or somatic. The increasing adoption of parallel testing has revealed a greater number of germline findings in patients who otherwise would not have met clinical criteria for testing. This result has widespread implications for the screening and further testing of at-risk relatives and for gene discovery. It has also revealed the importance of germline testing in therapeutic actionability. Herein, we describe the pros and cons of tumor-only versus parallel tumor-normal testing and summarize the data on the prevalence of incidental actionable germline findings. Because germline testing in patients with cancer continues to expand, it is imperative that systems be in place for the proper interpretation, dissemination, and counseling for patients and at-risk relatives. We also review new therapeutic approvals with germline indications and highlight the increasing importance of germline testing in selecting therapies. Because recommendations for universal genetic testing are increasing in multiple cancer types and the number of approved therapies with germline indications is also increasing, a gradual transition toward parallel tumor-normal genetic testing in all patients with cancer is foreseeable.

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