Participants will receive a message to view educational videos prior to their genetic counseling appointment if they are assigned to a pre-educated arm. The video will be shared with patients via MyHealth in the "education" tab in advance of the genetic counseling session

Participants will receive a message to view a pamphlet prior to their genetic counseling appointment if they are assigned to a pre-educated arm. The pamphlet will be sent to patients who cannot access the video via regular mail in advance of the genetic counseling session

Participants will receive traditional genetic counseling. . After the genetic counseling session, they will fill out a validated survey called the Multi-dimensional Measure of Informed Choice (MMIC) that assesses attitudes, knowledge, and uptake of genetic testing

The primary intervention in this study is watching the video or reading the pamphlet in advance of the genetic counseling session, which overview the same information that we currently provide in-person/via telehealth during the genetic counseling session.

Educational video and pamphlet

Patients will receive traditional genetic counseling

Traditional genetic counseling

Misha Rashkin

Meredith Mills

Karlena Otero

Courtney Teeter

James Ford

The purpose of this research study is to understand the impact of an educational video or pamphlet on the patient experience in a hereditary cancer genetic counseling program. In order to make this assessment, it is necessary to perform qualitative and quantitative research among patients in a hereditary cancer genetic counseling clinic.

Assessments of Genetic Counseling Augmented With an Educational Video or Pamphlet Versus Traditional Counseling

Impact will be defined as the number of questions asked by patient during the counseling.

Stanford University

Symptoms and General Pathology

All Conditions

Neoplasms

Urinary Tract, Sexual Organs, and Pregnancy Conditions

Gland and Hormone Related Diseases

Diseases and Abnormalities at or Before Birth

Skin and Connective Tissue Diseases

Rare Diseases

Syndrome

Ovarian Neoplasms

Carcinoma, Ovarian Epithelial

Neoplastic Syndromes, Hereditary

Hereditary Breast and Ovarian Cancer Syndrome

Genetic Diseases, Inborn

Ovarian Cancer

Ovarian Epithelial Cancer

This will be typical genetic counseling that a patient would receive in a traditional genetic counseling setting.

This will be genetic counseling that is modified for a lower literacy patient and will include fewer technical terms and less complicated genetic information.

After participants at high risk for a hereditary cancer syndrome receive exome sequencing, they will receive modified genetic counseling to help them understand the results.

Modified genetic counseling

After participants at high risk for a hereditary cancer syndrome receive exome sequencing, they will receive traditional genetic counseling to help them understand the results.

Michael Leo, PhD

Benjamin S Wilfond, MD

The CHARM (Cancer Health Assessment Reaching Many) study will assess the utility of clinical exome sequencing and how it affects care in diverse populations. The study population includes adults at risk for hereditary cancer syndromes.

The primary objective is to implement a hereditary cancer risk assessment program in healthy 18-49 year-olds in primary care settings within a vertically integrated health delivery system (Kaiser Permanente) and a federal qualified health center (Denver Health). The investigators will assess clinical exome sequencing implementation and interpretation, as well as tailored interactions for low health literacy including a contextualized consent process, and a modified approach to results disclosure and genetic counseling. The investigators will also assess the clinical utility (healthcare utilization and adherence to recommended care) and personal utility of primary and additional results from clinical exome sequencing, and evaluate the ethical and policy implications of considering personal utility of genomic information decisions for health care coverage.

Aim 1. Implement a hereditary cancer risk-assessment program in healthy 18-49-year-old adults in primary care settings, with stakeholder input, and offer exome sequencing to clarify risk.

Aim 1A. Identify and recruit 880 adult participants at-risk of a hereditary cancer syndrome.

Aim 1B: Generate medical exome sequence data and interpret variants. Aim 1C: Disclose findings from medical exome sequencing, incorporate results into the electronic medical record (EMR), and facilitate downstream patient management and coordination of care with the provider.

Aim 1D. Engage stakeholders to tailor and optimize the program in diverse populations.

Aim 2. Evaluate and tailor for diverse populations the critical interactions in the program, including the consent process, choices for reporting additional findings, and the response to results disclosure.

Aim 2A. Design, implement, and assess a contextualized consent process to support informed decision-making about participation in research about medical exome sequencing.

Aim 2B. Design, implement, and compare a novel decision aid in the second half of the study for selecting the optional categories of additional findings with the approach we developed in CSER1 that offered a category checklist.

Aim 2C. Design, implement, and compare a modified (communication-focused) approach to results disclosure, genetic counseling, and decision making with a standard (information-focused) approach.

Aim 3. Evaluate the clinical utility (including personal utility) of using exome sequencing to diagnose individuals with hereditary cancer syndromes and provide additional findings.

Aim 3A: Measure the yield of reportable findings for hereditary cancer syndromes and additional findings.

Aim 3B: Evaluate subsequent healthcare utilization for all study participants and adherence to recommended care among individuals who are identified with a hereditary cancer syndrome in diverse settings.

Aim 3C. Assess the personal utility of exome sequencing, including primary and additional findings.

Aim 4. Address pragmatic and ethical challenges to the integration of genomic medicine into clinical and health systems decision-making.

Aim 4A: Develop and pilot a system that integrates genomic, clinical, and healthcare utilization data to inform clinicians and patients acting on genomic information and to reduce care gaps in patient management.

Aim 4B: Advance the analysis of the ethical and policy implications of incorporating personal utility of genomic information into the decision framework for healthcare coverage.

All participants will receive exome sequencing. The randomization will be into one of two types of genetic counseling - traditional and modified.

The participant will not know if they are receiving traditional or modified genetic counseling.

Cancer Health Assessments Reaching Many

Exome Sequencing in Diverse Populations in Colorado & Oregon

Genotype and Phenotype data will be uploaded to ANVIL. Variant data will be uploaded to ClinVar.

Number of people found to have a pathogenic variant in one of the cancer genes associated with Lynch syndrome or hereditary breast and ovarian cancer

Number of people with pathogenic variants found in genes related to medically actionable hereditary conditions

Number of people with pathogenic variants found in genes related to common carrier conditions

Downstream healthcare utilization of specific recommended procedures (e.g., colonoscopy, mammography, surgery) will be compared between participants in the traditional genetic counseling arm, the modified genetic counseling arm, and patients at high risk for a hereditary cancer syndrome that do not join the study (usual care)

Measurement of participant's understanding of the recommended care based on their genetic test result will be assessed using a validated survey tool

Measurement of patient's understanding of the genetic test results will be assessed using a validated survey tool

Measurement of the patient's satisfaction of genetic counseling will be assessed using a validated survey tool

Measurement of the degree to which participants shared their genetic test results with various family members will be assessed using a validated survey tool

Measurement of the participant's perceived utility of obtaining genetic testing and counseling will be assessed using validated survey tools that assess lifestyle behaviors and self-reported health/quality of life.

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization	Link
Assessments of Genetic Counseling Augmented With an Educational Video or Pamphlet Versus Traditional Counseling	NCT05132868	Quality	Educational vid... Traditional gen...	18 Years -	Stanford University
Cancer Health Assessments Reaching Many	NCT03426878	Hereditary Canc...	Modified geneti... Traditional gen...	18 Years - 49 Years	Kaiser Permanente

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