Neoplasms

Digestive System Diseases

All Conditions

Skin and Connective Tissue Diseases

Blood and Lymph Conditions

Respiratory Tract (Lung and Bronchial) Diseases

Urinary Tract, Sexual Organs, and Pregnancy Conditions

Rare Diseases

Esophageal Neoplasms

Skin Neoplasms

Stomach Neoplasms

Head and Neck Neoplasms

Hematologic Neoplasms

Breast Neoplasms

Lung Neoplasms

Urinary Bladder Neoplasms

Kidney Neoplasms

Uterine Neoplasms

Hematologic Diseases

Breast Diseases

Skin Diseases

Respiratory Tract Neoplasms

Thoracic Neoplasms

Lung Diseases

Respiratory Tract Diseases

Gastrointestinal Neoplasms

Digestive System Neoplasms

Gastrointestinal Diseases

Esophageal Diseases

Stomach Diseases

Urologic Neoplasms

Urogenital Neoplasms

Urogenital Diseases

Female Urogenital Diseases

Pregnancy Complications

Female Urogenital Diseases and Pregnancy Complications

Urinary Bladder Diseases

Urologic Diseases

Male Urogenital Diseases

Kidney Diseases

Genital Neoplasms, Female

Uterine Diseases

Genital Diseases, Female

Genital Diseases

Esophageal Cancer

Stomach Cancer

Genomic profiling, indicated as assessed by the medical need and as deemed appropriate by the physician according to routine practice

Genomic testing

Richard Greil, MD

Thomas Winder, MD

Armin Gerger, MD

Andreas Seeber, MD

Martin Pecherstorfer, MD

Andreas Petzer, MD

Petra Pichler, MD

Klaus Wilthoner, MD

Sonja Heibl, MD

Christian Singer, MD

Edward Wöll, MD

There is no evidence available about which molecular profiling methods are currently used for cancer patients in Austrian clinical practice. The construction of the registry proposed as a completely independent research endeavor, will be helpful for scientific evaluation and the establishment of highly credible data.

In the situation of enormous possible beneficial options for patients, health care systems, researchers and companies and the simultaneously present high number of uncertainties, the establishment of an independent registry for patients undergoing any type of comprehensive genomic profiling offers many advantages.

In particular, an overview of the speed of development, the "market penetration", the use of the technology in specific indications (tumor types, stages and in specific situations of unresponsiveness to certain drugs), the frequency by which treatment decisions will definitely follow the result of comprehensive genomic profiling and the reasons for this, the treatment outcome of such patients, the platform technologies applied (in-house (which types), vs. commercial) and the development of these parameters over time and in relation to the development of novel drugs will be analyzed.

The registry proposes to cover the time period from the years 2016 to 2019, which will allow for assessment of both the current and emerging landscape of genomic/molecular testing practice in Austria and effect of molecular profiling on patient care and outcome.

Genomic Testing and Resulting Medical Decisions

The Use of Genomic Testing and the Resulting Medical Decisions According to Target Identification

To describe types of:molecular profiling methods used in the Austrian registry centres

To describe types of cancer, for which comprehensive molecular profiling is used

To describe the timing of molecular profiling in relation to stage of the disease (e.g. at diagnosis, after surgery, radiation therapy, after first/second/third/late line)

To describe targets identified:

* number of patients with at least one mutation identified
* number of patients with at least one druggable target identified
* number of patients with more than one druggable targets identified
* number of druggable targets per cancer type

To describe tests used and quality standards:

* to compare results of NGS based molecular test systems with single marker tests or small gene panel tests
* quality standards of the test methods used (TAT, certification status)
* to evaluate development of methods used over time
* usage of commercial testing vs. in-house testing, platforms used, and number of genes as well as gene size analyzed (eg whole exome with or without selected intron sequencing vs. hot spot exome sequencing)

To describe treatment decisions:

* frequency by which treatment decision follows the result of NGS testing
* frequency with druggable targets with available on-label therapy option
* treatment decisions in the presence of more than one druggable target

To describe outcome of treatment in patients receiving therapy in concordance with the test result

Roche Pharma AG

AstraZeneca

Arbeitsgemeinschaft medikamentoese Tumortherapie

Phil Stephens, PhD

Foundation Medicine Inc. (FMI) is interested in studying the concordance of genomic alterations between primary and/or metastatic surgical biopsies, and circulating tumor DNA (ctDNA) within different solid tumor types and has been developing an assay in order to do so.

The purpose of this study is to assess whether a new ctDNA assay developed by Foundation Medicine is able to detect genomic alterations in peripheral blood that are consistent with the genomic alterations detected in a patient's matched primary and/or metastatic tumor biopsy sample analyzed by the FoundationOne® test. Study sites will provide matched solid tumor and peripheral blood samples of cancer patients to FMI for the purpose of testing the concordance of the FMI ctDNA assay to the FoundationOne® test. Participation in this study is part of a broader 2000 patient study to determine which tumor types are most readily measured via ctDNA profiling, and to learn of the similarity between the alterations found in a patient's tumor biopsy and the ctDNA from their blood.

Concordance Between ctDNA Assay and FoundationOne

Study of Concordance Between Circulating Tumor DNA Assay and Foundation One Tissue Analysis For Genomic Alterations

Johns Hopkins University

Oncology Consultants

Comprehensive Blood and Cancer Center

Illinois CancerCare

Sanford Health

Eastchester Center for Cancer Care

Rutgers Cancer Institute of New Jersey

Cone Health

Nebraska Cancer Specialists

University of California, Davis

University of Chicago

Northeast Georgia Medical Center

Hematology Oncology Associates of Fredericksburg

Memorial Sloan Kettering Cancer Center

Oncology Hematology Care, Inc

Montefiore Medical Center

Quincy Medical Group

Prisma Health-Upstate

Mary Crowley Cancer Research Center

Texas Health

University of California, San Diego

Avera Cancer Institute

Foundation Medicine

We will survey 100 patients and 50 caregivers.

Manali A Patel

Emily H Wood

Manali I Patel, MD MPH MS

The purpose of this study is to identify the barriers, and the extent of said barriers, to genomic testing for breast cancer patients among low-income and minority populations, particularly throughout Northern California. The investigators have created a survey that is available online for any patient with cancer to fill out voluntarily regarding their experiences to date. The survey is available at: https://stanforduniversity.qualtrics.com/jfe/form/SV_7VElf8oesWcB3bE

The study has two main data-collecting phases. In phase 1, the investigators will engage multilevel stakeholders to respond to a survey assessing experience with and perceptions of genomic testing and its accessibility for patients with breast cancer in California. In phase 2, selected and interested survey participants who voluntarily provide their contact information on the survey will be asked to participate in an in-depth 1:1 semi-structured interview to explore disparities in genomic testing for breast cancer more closely. The investigators will then utilize their findings from both phases to present aggregate findings to an Expert Panel and Community Advisory Board and work together to develop policy recommendations. The policy recommendations will then be presented to policy makers, with the aim of identifying sustainable solutions that address breast cancer treatment and outcome disparities throughout Northern California.

Achieving Equity in Genomic Testing for Breast Cancer Through Partner-Led Strategies and Policies

We will track the number of participants who fill out the survey for the 12 month duration of the study and the number of participants who participate in the semi-structured telephone interviews.

The Latino Cancer Institute

Stanford University

Principal Investigator

Prostatic Neoplasms

Genital Neoplasms, Male

Genital Diseases, Male

Prostatic Diseases

Familial Prostate Cancer

Genetic Risk Score: Number Format Subjects receive genetic risk scores in a number format.

Genetic Risk Score: Number + Pictograph Subjects receive genetic risk scores in a number and pictograph format.

Family History: Number Format Subjects receive family history risk in a number format.

Family History: Number + Pictograph Subjects receive family history risk in a number and pictograph format.

Genetic Risk Score: Number + Pictograph Genetic risk score based on validated panel of 46 single nucleotide polymorphisms previously identified to be associated with Prostate Cancer risk by Genome Wide Association Studies, presented to subjects as a number.

Genetic Risk Score: Number Format

Genetic Risk Score: Number + Pictograph Risk information conveyed as either a number or a number + pictograph, depending on randomization group.

Genetic Risk Score: Number + Pictograph

Family History: Number Format Risk information conveyed as either a number or a number + pictograph, depending on randomization group.

Family History: Number Format

Family History: Number + Pictograph Risk information conveyed as either a number or a number + pictograph, depending on randomization group.

Family History: Number + Pictograph

Jianfeng Xu, Dr.P.H.

This study was designed to compare the efficacy, perception, decision making, and cost-effectiveness of genomic and non-genomic approaches for risk assessment of prostate cancer and for chemoprevention of prostate cancer.

ABSTRACT: This clinical trial registration is focused on Aim 4 within the overall project described in the following.

Prostate cancer (PCa) is the most common cancer among men in the U.S. One important strategy to address this public health concern is to prevent the disease. Two large randomized clinical trials, The Prostate Cancer Prevention Trial (PCPT) and The Reduction by Dutasteride of Prostate Cancer Events (REDUCE), have demonstrated a 23-25% reduction in PCa risk with the use of 5 alpha reductase inhibitors (5ARIs: finasteride and dutasteride). However, 5ARIs have not been widely adopted due, in part, to poor cost-effectiveness. We hypothesize that targeted chemoprevention, based on 1) overall genetic risk \[family history (FH) and PCa risk-associated genetic variants\], and 2) polymorphisms that interact with 5ARIs, may be more efficacious and cost-effective, and thus more likely to be employed by physicians and their patients. The effectiveness of this genomic-targeted approach needs to be systematically evaluated and compared to non-genomic approaches using evidence-based methods such as those recommended by the EGAPP (Evaluation of Genomic Applications in Practice and Prevention) working group. We have assembled a multidisciplinary research team to address an overarching question of whether a genomic-targeted approach improves outcomes related to chemoprevention of PCa using 5ARIs compared to a non-targeted approach. We will evaluate and compare the efficacy, perception, decision making, and cost-effectiveness of genomic and non-genomic approaches in two existing large randomized clinical trials (Reduction by Dutasteride of Prostate Cancer Events (REDUCE) and Prostate Cancer Prevention Trial (PCPT)), two new study populations of men at risk for PCa, and in a survey of physicians. The unique study design of REDUCE and PCPT, with end-of-study prostate biopsies, allows us to address two critical questions in this study: Prostate Specific Antigen (PSA) detection-bias of PCa risk-associated Single Nucleotide Polymorphisms (SNPs) and efficacy of genomic-targeted chemoprevention of PCa using 5ARIs. We have the following specific aims: 1) assess the clinical validity of PCa risk prediction models using a panel of non PSA detection biased PCa risk-associated SNPs. 2) identify and assess the clinical validity of novel polymorphisms that interact with 5ARIs in reducing PCa diagnosis using both genome-wide and candidate gene approaches, 3) assess the clinical utility of a genomic-targeted approach by comparing its reduction in rates of PCa with non-targeted chemoprevention, 4) compare perception and decision making of physicians and patients for genomic and non-genomic-targeted chemoprevention of PCa, and 5) Compare the cost-effectiveness of genomic and non-genomic-targeted chemoprevention of PCa. Results from this study will provide comprehensive data for evidence-based evaluation by the Center for Disease Control's Evaluation of Genomic Applications in Practice and Prevention (EGAPP) working group, provide a proof of principle study of Comparative Effectiveness Research (CER), and will help build a road map for future Genomic and Personalized Medicine (GPM) in the 21st century.

Clinical Validity and Utility of Genomic-targeted Chemoprevention of PCa: Aim 4a

There is no intent to share individual participant data (IPD). The terms included in the study consent form do not allow sharing of IPD.

Discussion with Physician regarding PSA screening, measured by survey 3 months after provision of risk information

PSA screening, measured by survey 3 months after provision of risk information.

PSA screening, measured by medical records 3 years after provision of risk information.

Immediate reaction to risk information. Measured by state anxiety scale that assess current feelings "at this moment": 1) not at all, 2) somewhat, 3) moderately so, and 4) very much so. A shortened version of questions 1,3,5,9,11,12,13,15,17, and 19 from STAI form XI were used. Each item, within then STAI is scored on a scale of 1-4 and with 10 items, the possible range of total scores was 10 (lowest anxiety) to 40 (highest anxiety). Lowest scores represent better outcomes.

Mean between Immediate recall of risk information and told risk information. Immediate recall is measured by survey question: "Based on the information given to you, what were you told is your chance of developing prostate cancer in your lifetime from 0% to 100% ______ %"

Mean between recall of risk information at 3 months measured by survey, and told risk information. Recall at 3 months is measured by survey question: "Based on the information given to you, what were you told is your chance of developing prostate cancer in your lifetime from 0% to 100% ______ %"

Van Andel Research Institute

Spectrum Health Medical Group

National Cancer Institute (NCI)

Wake Forest University Health Sciences

NorthShore University HealthSystem

Professor of Human Genomics and Personalized Medicine, Epidemiology, Cancer Biology, and Urology

Genetic Risk Score: Number Format Subjects receive genetic risk scores in a number format.

Genetic Risk Score: Number Format: Genetic Risk Score: Number + Pictograph Genetic risk score based on validated panel of 46 single nucleotide polymorphisms previously identified to be associated with Prostate Cancer risk by Genome Wide Association Studies, presented to subjects as a number.

Genetic Risk Score: Number + Pictograph Subjects receive genetic risk scores in a number and pictograph format.

Genetic Risk Score: Number + Pictograph: Genetic Risk Score: Number + Pictograph Risk information conveyed as either a number or a number + pictograph, depending on randomization group.

Family History: Number Format Subjects receive family history risk in a number format.

Family History: Number Format: Family History: Number Format Risk information conveyed as either a number or a number + pictograph, depending on randomization group.

Family History: Number + Pictograph Subjects receive family history risk in a number and pictograph format.

Family History: Number + Pictograph: Family History: Number + Pictograph Risk information conveyed as either a number or a number + pictograph, depending on randomization group.

Total

Age, Continuous

Sex: Female, Male

Race (NIH/OMB)

United States

Region of Enrollment

Dr. Aubrey R. Turner

Number of Participants Who Had Prostate Specific Antigen (PSA) Discussion With Physician at 3 Months, Measured by Survey

Number of Participants Who Had PSA Testing at 3 Months, Measured by Survey

Number of Participants Who Had PSA Testing at 3 Years, Measured by Medical Records

Computerized randomization of 700 study identifiers into 175 blocks of four each was completed prior to enrollment. Genetic Risk Score=GRS and Family History=FH. Randomization groups were (Group 1) GRS+FH as a number; (Group 2) GRS+FH as a number and pictograph; (Group 3) FH as a number; and (Group 4) FH as a number and pictograph.

Anxiety, Measured by State-trait Anxiety Inventory (STAI)

The statistical analysis shows the relation between risk given and risk recall at the immediate post results assessment for the total number of participants.

Genetic Risk Score: Number Format Subjects receive genetic risk scores in a number format. Genetic risk score based on validated panel of 46 single nucleotide polymorphisms previously identified to be associated with Prostate Cancer risk by Genome Wide Association Studies, presented to subjects as a number. Data presented as linear relationship between told risk and immediate recall.

Genetic Risk Score: Number + Pictograph Subjects receive genetic risk scores in a number and pictograph format. Genetic Risk Score: Number + Pictograph: Genetic Risk Score: Number + Pictograph Risk information conveyed as either a number or a number + pictograph, depending on randomization group. Data presented as linear relationship between told risk and immediated recall.

Family History: Number Format Subjects receive family history risk in a number format. Family History: Number Format: Family History: Number Format Risk information conveyed as either a number or a number + pictograph, depending on randomization group. Data presented as linear relationship between told risk and immediated recall.

Family History: Number + Pictograph Subjects receive family history risk in a number and pictograph format. Family History: Number + Pictograph: Family History: Number + Pictograph Risk information conveyed as either a number or a number + pictograph, depending on randomization group. Data presented as linear relationship between told risk and immediated recall.

Accuracy of Immediate Recall of Risk Information Measured by Survey

Genetic Risk Score: Number Format Subjects receive genetic risk scores in a number format. Genetic risk score based on validated panel of 46 single nucleotide polymorphisms previously identified to be associated with Prostate Cancer risk by Genome Wide Association Studies, presented to subjects as a number. Data presented as linear relationship between told risk and immediated recall.

Accuracy of Recall of Risk Information at 3 Months Measured by Survey

Visit 1 - Enrollment

Visit 2 - Results DIsclosure

Visit 3 - 3 Months Followup

Year 3 Chart Review

Gland and Hormone Related Diseases

Ovarian Neoplasms

Carcinoma, Ovarian Epithelial

Carcinoma

Endocrine Gland Neoplasms

Ovarian Diseases

Adnexal Diseases

Endocrine System Diseases

Gonadal Disorders

Neoplasms, Glandular and Epithelial

Neoplasms by Histologic Type

Ovarian Cancer

Ovarian Epithelial Cancer

A multi-panel testing of 36 genes would be given for these patients in their peripheral blood and tumor tissues. These 36 genes include: BRCA1, BRCA2, ABRAXAS1(FAM175A）, ATM, ATR, BAP1, BARD1, BRIP1, C11ORF30（EMSY）, CDK12, CHEK1, CHEK2, FANCA, FANCC, FANCD2, FANCI, FANCL, MRE11A, NBN, PALB2, PPP2R2A, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RAD54B, RAD54, MLH1, MSH2, MSH6, PMS2, EPCAM, STK11, TP53, CDH1. The study would select 150 patients with pathogenic or likely pathogenic mutations in BRCA1/2 and 150 patients without these mutations to further explore the HRD status.

Lei Li

Ming Wu

Lei Li, MD

The homologous recombination deficiency (HRD) status in Chinese population with epithelial ovarian cancer (EOC) is little known. This study would recruit 1300 Chinese EOC patients. A multi-panel testing of 36 genes would be given for these patients in their peripheral blood and tumor tissues. These 36 genes include: BRCA1, BRCA2, ABRAXAS1(FAM175A）, ATM, ATR, BAP1, BARD1, BRIP1, C11ORF30（EMSY）, CDK12, CHEK1, CHEK2, FANCA, FANCC, FANCD2, FANCI, FANCL, MRE11A, NBN, PALB2, PPP2R2A, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RAD54B, RAD54, MLH1, MSH2, MSH6, PMS2, EPCAM, STK11, TP53, CDH1. The study would select 150 patients with pathogenic or likely pathogenic mutations in BRCA1/2 and 150 patients without these mutations to further explore the HRD status. The HRD model is based on the loss of heterozygosity (LOH), telomere allele imbalance (TAI) and large-scale state transitions (LST). The mutated genes, HRD score model and their relationship with the prognosis, would provide a full description of for the Chinese EOC patients.

Samples from the patients' peripheral blood and tumor tissues.

Homologous Recombination Deficiency Status in Epithelial Ovarian Cancer

A Study on the Homologous Recombination Deficiency Status in Chinese Population With Epithelial Ovarian Cancer

Frequency of pathogenic or likely pathogenic mutations in a multi-panel genes

The HRD score for individual patient is a scale describing her HRD status. The score model is calculated by the analysis for three types of important molecular mechanism: loss of heterozygosity (LOH), telomere allele imbalance (TAI) and large-scale state transitions (LST)

Progression-free survival in recruited patients

Sensitivity to platinum-based chemotherapy in recruited patients

Sensitivity to poly-(ADP-ribose) polymerase inhibitors in recruited patients

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Genomic Testing and Resulting Medical Decisions	NCT03301493	Cancer of Unkno... Cancer Refracto... Cancer of Stoma... Cancer Head Nec... Cancer of Skin Cancer, Lung Cancer Colorect... Cancer of Esoph... Cancer, Bladder Cancer, Uterus Cancer Cervix Cancer Liver Cancer, Kidney Cancer, Breast Hematologic Neo...	Genomic testing	18 Years -	Arbeitsgemeinschaft medikamentoese Tumortherapie
Concordance Between ctDNA Assay and FoundationOne	NCT02620527	Circulating Tum... Cancer Neoplasms Genomic Testing Genomic Alterat...		18 Years -	Foundation Medicine
Achieving Equity in Genomic Testing for Breast Cancer Through Partner-Led Strategies and Policies	NCT05916378	Breast Cancer		18 Years - 99 Years	Stanford University
Clinical Validity and Utility of Genomic-targeted Chemoprevention of PCa: Aim 4a	NCT02381015	Prostate Cancer Prostate Cancer... Hereditary Pros...	Genetic Risk Sc... Genetic Risk Sc... Family History:... Family History:...	40 Years - 49 Years	NorthShore University HealthSystem
Homologous Recombination Deficiency Status in Epithelial Ovarian Cancer	NCT04190667	Epithelial Ovar... Chinese Homologous Reco... BRCA1 Mutation BRCA2 Mutation Prognosis	Genomic testing	18 Years -	Peking Union Medical College Hospital

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