Cancer patients and survivors undergo collection of tissue, blood, saliva, and stool samples on study for genomic sequencing and microbiome analysis. Cancer patients and survivors also complete surveys and interviews on study pre and post intervention.

Undergo collection of tissue, blood, saliva, and stool samples

Biospecimen Collection

Return of Results

Survey Administration

Ursa Brown-Glaberman, MD

Kelsey Ayers, BS

Koby Blackwater

Cheryl Willman, MD

Andrew Sussman, PhD

Shiraz I Mishra, MCCS, PhD

This clinical trial studies engagement strategies for recruiting American Indians (AI) of Southwestern Tribal Nations for cancer genome sequencing. American Indians in the Southwest have higher rates of some types of cancer, such as cancers that arise in the liver, kidney, breast, and colon. American Indians with cancer may also live for less time than people from other population groups who have been treated for the same cancer. Damage to the cells of the body, acquired as people live, grow older, and are exposed to the environment, causes genetic changes in cells that can lead to cancer. This study may help researchers learn how these genetic changes in cells cause cancer and understand how and why cancer is arising in American Indians in the Southwest. This may help better prevent and treat cancer in the future.

PRIMARY OBJECTIVES:

The overall objective of the PE-CGS Research Center is to develop culturally appropriate, respectful, trusted, and collaborative means to engage and recruit American Indians affected by cancer (newly diagnosed cancer patients, patients undergoing cancer treatment, and cancer survivors) for molecular characterization of their tumors.

The clinical trial is embedded in the Patient Engagement Unit (PEU) jointly with the Engagement Optimization Unit (EOU)

The specific objectives for the PEU are to:

1. Conduct direct participant engagement with cancer patients/survivors, community advisors, and partners to refine and optimize methods/processes;
2. Identify, recruit and consent eligible AI cancer patients/survivors;
3. Implement tissue acquisition, epidemiologic, behavioral, and clinical data collection, conduct continuous assessment of performance benchmarks;
4. Return clinical grade and clinically useful genomic data to participants with navigation to counseling and clinical resources as warranted and as they select.

The specific objectives of the EUO are to:

1. Finalize consenting process and informed consent by direct engagement of AI cancer patients, survivors, healthcare providers, genetic counselors, consenting staff, tribal and spiritual leaders and tribal governance;
2. Determine AI cancer patients' and survivors' knowledge, attitudes, cultural beliefs, information needs, and communication preferences and practices regarding clinical genomics testing;
3. Determine AI cancer patients' and survivors' perspectives on strategies to engage and recruit participants for clinical genomics testing.

Engagement of American Indians of Southwestern Tribal Nations in Cancer Genome Sequencing

Participant Engagement - Cancer Genome Sequencing (PE-CGS) Research Center: Engagement of American Indians of Southwestern Tribal Nations in Cancer Genome Sequencing

Number and percent of eligible participants enrolled and consented

Number and percent of eligible participants who complete, or partially complete, baseline and follow up data collection of epidemiological assessments and follow up data collection of epidemiological assessments

Number and percent of enrolled participants for whom biospecimens are collected and processed for genomic analysis

Number and percent of participants/samples that undergo successful comprehensive genomic and bioinformatic analysis

Number and percent of participants who elect to receive clinical genetic/genomic results and incidental findings

Number and percent of participants/patients whose clinical genomic data facilitates therapeutic intervention

Successful completion of the Preparatory and Optimization Phases

National Cancer Institute (NCI)

New Mexico Cancer Care Alliance

Neoplasms

Symptoms and General Pathology

All Conditions

Skin and Connective Tissue Diseases

Digestive System Diseases

Neoplasm Metastasis

Breast Neoplasms

Colonic Neoplasms

Colorectal Neoplasms

Intestinal Neoplasms

Gastrointestinal Neoplasms

Digestive System Neoplasms

Gastrointestinal Diseases

Colonic Diseases

Intestinal Diseases

Family members of individuals who have received secondary genomic findings after exome/genome sequencing

Individuals who have received secondary genomic findings after exome/genome sequencing

Julie Sapp

Leslie G Biesecker, M.D.

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

Background:

Genes are the instructions a person s body uses to function. Genome sequencing is a new way to look at genes that your main research team is using to learn the causes of the condition they are studying. When a new cause is found this way, it is called a primary variant. Each person has many variants. Most do not cause disease. Sequencing can also find secondary variants. These are not related to the condition your main research team is studying, but may show a person to be at high risk for cancer or another condition. Researchers want to learn more about what it means to have a secondary variant.

Objectives:

To find new gene changes that lead to certain medical conditions. To better understand the causes of certain diseases. To learn about how people understand their genetic test results.

Eligibility:

People with rare diseases who have already consented to and enrolled in another protocol run by a group other than the National Human Genome Research Institute.

Design:

DNA samples that were already collected will be studied.

Participants may be asked to send in a second DNA sample (blood or saliva). These will be used to verify any findings.

If a primary variant for the participant s health condition is found through genome sequencing, this will be shared with the participant by their primary research team.

If the participant has a secondary finding, it will be shared by phone call or videoconference by this research group in the National Human Genome Research Institute. Some participants may get their results in person at the clinic.

Three months after getting their secondary findings, participants will do an online survey and phone interview. They will be asked about how they have used the information.

Some people who do not receive a secondary finding from genome sequencing will be asked to do an online survey three months after they get that result.

Participants who have a secondary finding can get genetic counseling.

The implementation of genome and exome sequencing creates challenges and opportunities, particularly with respect to the return of medically-actionable secondary findings (SF). This study seeks to investigate the utility and effectiveness of returning SF generated via research or clinical sequencing by studying individuals who have received such findings. Our objectives with this protocol have evolved over time and have been substantially informed by our experiences in returning SF through sequencing initiatives such as the ClinSeq study, the Clinical Center Genomics Opportunity (CCGO), and the Secondary Genomic Findings Service (SGFS). Our work with these studies/initiatives suggests that much remains unknown about how recipients of SF understand these findings, communicate them to their health professionals and families, and whether they adhere to recommended health-preserving actions in both the short and long-term. As well, recipients of SF are an unselected population in which to investigate penetrance of disorders associated with SF genes. Thus, this protocol aims to explore important questions of clinical utility associated with SF return and penetrance of SF-related disorders. Healthcare actions and family communication (clinical utility) are assessed by interviews and surveys with SF recipients. This protocol also includes a pilot program in which selected participants will be invited to the NIH for bespoke phenotyping to uncover the presence of disease and explore avenues to develop interventions to enhance outcomes.

Genomic Services Research Program

We will assess affective responses and healthcare and behavioral changes to receiving positive SF results

We will assess penetrance using the family-based positive predictive value metric

We will assess what individual, community, and systemic factors influence recipients follow through on recommendations and how they communicate SF results with family members.

We will assess the health impacts of SF receipt and healthcare processes affecting outcomes in SF recipients.

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization	Link
Engagement of American Indians of Southwestern Tribal Nations in Cancer Genome Sequencing	NCT06207864	Malignant Neopl...	Biospecimen Col... Return of Resul... Survey Administ...	18 Years -	New Mexico Cancer Care Alliance
Genomic Services Research Program	NCT02595957	Colon Cancer Breast Cancer		1 Month - 105 Years	National Institutes of Health Clinical Center (CC)

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