Nest Platform for Genetic Cancer Risk Management

Overseen By Jennifer Mack, MD

Age: 18 - 65

Sex: Any

Trial Phase: Academic

Sponsor: Dana-Farber Cancer Institute

Disqualifiers: Active cancer therapy

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: 2

40 Participants Needed

Trial Summary

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications. It is best to discuss this with the trial coordinators or your healthcare provider.

What data supports the effectiveness of the Nest Platform for Genetic Cancer Risk Management treatment?

Research shows that digital tools, like the Nest Platform, can improve patient knowledge, decision-making, and engagement in genetic services, making them effective in managing genetic cancer risks. ^{1 2 3 4 5}

Is the Nest Platform for Genetic Cancer Risk Management safe for humans?

The research articles do not provide specific safety data for the Nest Platform or its related names. However, similar tools like HughesRiskApps and Health Heritage have been accepted by patients and clinicians, suggesting they are generally safe to use in clinical settings. ^{6 7 8 9 10}

How is the Nest Platform for Genetic Cancer Risk Management treatment different from other treatments for genetic cancer risk?

The Nest Platform for Genetic Cancer Risk Management is unique because it likely incorporates advanced tools like chatbots and web-based applications to assist in genetic cancer risk assessment and counseling, making it more accessible and scalable compared to traditional methods that rely heavily on in-person consultations with genetic counselors. ^{4 11 12 13 14}

What is the purpose of this trial?

This research is being done to develop the electronic platform Nest for young adults (ages 18-39) who have had prior cancer genetic testing. The platform will give patients and their clinicians access to continuously updated information about both pathogenic variants and variants of uncertain significance (VUS). The name of the intervention used in this research study is: Nest portal (electronic platform for patients and clinicians)

Research Team

Jennifer Mack, MD

Principal Investigator

Dana-Farber Cancer Institute

Eligibility Criteria

This trial is for young adults aged 18-39 who have had cancer genetic testing and know their results, which include pathogenic variants or VUS. Participants must speak English, not be undergoing active cancer therapy, and receive care at Dana-Farber Cancer Institute. Eligible healthcare providers include oncologists, nurse practitioners, physician assistants, and genetic counselors caring for this age group.

Inclusion Criteria

I am 18-39 years old and have a genetic test showing a cancer mutation.

I can speak and read English.

Receiving care at DFCI

Timeline

Screening

Participants are screened for eligibility to participate in the trial

1 week

Nest Refinement Phase

Participants provide feedback on the Nest portal's content and processes to guide refinement

Up to 2 hours

1 visit (in-person or virtual)

Nest Pilot Phase

Testing the feasibility and acceptability of the Nest portal with baseline and post-visit surveys, and interviews

Up to 2 hours

1 visit (in-person or virtual)

Follow-up

Participants are monitored for changes in knowledge of cancer risk and recommended screening

Up to 30 days

Treatment Details

Interventions

• Nest Platform

Trial Overview The trial is developing an electronic platform called Nest that provides updated information on genetic risks to patients and clinicians. It's designed for those who've undergone genetic testing for cancer susceptibility to better manage their health information.

Participant Groups

Group I: Nest Refinement Phase Experimental Treatment 1 Intervention

20 participants and clinicians will complete study procedures as outlined: * Nest portal orientation and access. * Semi-structured, 30-minute interviews. Solicited feedback on content and processes will refine the intervention for a pilot phase.

Group II: Nest Pilot Phase Experimental Treatment 1 Intervention

10 Participants and 10 clinicians will complete study procedures as outlined: * Baseline survey (participant). * Standard clinic visit. * Nest portal orientation and access (participant and clinician). * Post-visit survey (participant and clinician). * Brief, 30-minute, semi-structured interview (participant and clinician).

Who Is Running the Clinical Trial?

Dana-Farber Cancer Institute

Lead Sponsor

Trials

1,128

Recruited

382,000+

Nest Genomics

Collaborator

Trials

1

Recruited

40+

Nest Genomics

Industry Sponsor

Trials

2

Recruited

140+

Findings from Research

A systems-level intervention at a community breast health center successfully identified 2.7% of patients (n=65) as eligible for hereditary breast/ovarian cancer risk assessments (CRAs), with 72.3% of these eligible patients expressing interest in the service.

The intervention showed that interested patients had a higher risk for hereditary cancer and that 57.4% of those who scheduled appointments actually utilized CRAs, indicating the potential effectiveness of targeted patient navigation in increasing CRA utilization among at-risk populations.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Outcomes of a systems-level intervention offering breast cancer risk assessments to low-income underserved women. Mays, D., Sharff, ME., DeMarco, TA., et al.[2022]

Accurate risk assessment for patients with potential pathogenic gene variants is essential for effective counseling and treatment, but current models have limitations that may affect their use in clinical settings.

Women with breast cancer who have pathogenic variants in genes like BRCA1/2 or related genes (PTEN, PALB2) need further risk evaluation to guide treatment choices that can reduce the risk of tumor recurrence and contralateral breast cancer.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Assessing, Counseling, and Treating Patients at High Risk for Breast Cancer. Clifford, E., Hughes, KS., Roberts, M., et al.[2018]

The identification of BRCA 1/2 genes has significantly increased the need for ongoing support and information for individuals at high risk of breast cancer, highlighting the importance of peer support alongside professional guidance.

Breast Cancer Care has initiated a pilot 1-day support forum in collaboration with Genetic Counsellors to enhance the resources available for BRCA 1/2 gene carriers, aiming to improve their access to information and emotional support.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

A UK collaborative 1-day pilot information and support forum facilitated by a national breast cancer charity and NHS cancer genetic counsellors, for women at high risk, BRCA 1/2 gene carriers and hereditary breast cancer. Harris, J., Ward, S.[2016]

Chatbots have been evaluated in seven studies for their effectiveness in genetic cancer risk assessment and counseling, showing a pooled completion rate of 36.7% for risk assessments, indicating they can help streamline the process.

While chatbots show promise in making genetic services more accessible, there is a lack of comprehensive data on user characteristics and their effectiveness compared to traditional care methods.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Chatbot Artificial Intelligence for Genetic Cancer Risk Assessment and Counseling: A Systematic Review and Meta-Analysis. Webster, EM., Ahsan, MD., Perez, L., et al.[2023]

A systematic review of 87 studies found that 84% reported positive outcomes for patients using digital genetics tools, enhancing knowledge, psychosocial well-being, and engagement in genetic service delivery.

Digital tools not only improved patient outcomes but also increased workflow efficiency for healthcare providers, suggesting they can effectively support patient-centered care in the growing demand for genetic services.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Patient-facing digital tools for delivering genetic services: a systematic review. Whiwon, L., Salma, S., Daniel, A., et al.[2023]

The Family Gene Toolkit, a customized web application for families with BRCA1/BRCA2 pathogenic variants, was developed based on feedback from 68 women and is designed to improve family communication about genetic testing results.

In a usability test with 18 women, participants reported high satisfaction with the toolkit, finding it useful for coping strategies and family communication, indicating its potential to promote cascade genetic testing among at-risk relatives.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Acceptability and Usability of the Family Gene Toolkit for Swiss and Korean Families Harboring BRCA1/BRAC2 Pathogenic Variants: A Web-Based Platform for Cascade Genetic Testing. Baroutsou, V., Duong, V., Signorini, A., et al.[2023]

BRCA1 mutation carriers have a breast cancer risk of 40-87% and ovarian cancer risk of 22-65%, while BRCA2 carriers have a breast cancer risk of 18-88% and ovarian cancer risk of 10-35%, highlighting the significant cancer risk associated with these mutations.

Risk prediction models that incorporate family history and genetic factors are essential for personalized risk assessment and clinical management of BRCA mutation carriers, but further validation through prospective studies is necessary.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Breast cancer risks and risk prediction models. Engel, C., Fischer, C.[2022]

An online decision-making tool for women with BRCA1/2 mutations was developed and tested with 40 patients and 16 clinicians, showing high usability scores (82.5-85) and general satisfaction ratings (mean scores of 4.28 for patients and 4.38 for clinicians).

The majority of patients (77.5%) felt comfortable using the tool at home, and both patients and clinicians agreed that it could enhance patient-doctor interactions, indicating its potential to improve decision-making in cancer risk management.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Feasibility evaluation of an online tool to guide decisions for BRCA1/2 mutation carriers. Schackmann, EA., Munoz, DF., Mills, MA., et al.[2021]

The HughesRiskApps system was successfully implemented in a community hospital, analyzing 32,966 cases and identifying 3.6% of individuals as eligible for genetic risk assessment, significantly improving the identification of high-risk patients.

The system has been well-accepted by both physicians and patients, suggesting that it enhances the efficiency and effectiveness of managing hereditary risk in breast cancer care.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Identification and management of women at high risk for hereditary breast/ovarian cancer syndrome. Ozanne, EM., Loberg, A., Hughes, S., et al.[2009]

Health Heritage effectively identifies patients who may need further genetic evaluation for cancer risk, showing a 97% agreement with national guidelines based on a study of 100 patients at an adult genetics clinic.

The tool also provides reliable cancer risk stratification, with 90% agreement for breast cancer, 93% for ovarian cancer, and 75% for colorectal cancer when compared to assessments made by geneticists, highlighting its clinical validity.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Initial clinical validation of Health Heritage, a patient-facing tool for personal and family history collection and cancer risk assessment. Baumgart, LA., Postula, KJ., Knaus, WA.[2019]

The Cancer Genetics app was created to help assess hereditary cancer risks and guide referrals, indicating a focus on improving early detection and management of cancer risks.

Developed by a clinical genetics team in collaboration with a technology company, the app aims to enhance patient care by providing accessible genetic risk assessments.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Cancer genetics. [2017]

First-degree relatives of colorectal cancer patients have significant misconceptions about genetic risk assessment, including misunderstandings about preparation, the content of sessions, and the role of genetic testing.

Concerns about the accuracy of information and potential impacts on insurance status highlight the need for better education from health practitioners during the referral process for genetic risk assessment.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Perceptions of genetic risk assessment and education among first-degree relatives of colorectal cancer patients and implications for physicians. Todora, HM., Skinner, CS., Gidday, L., et al.[2019]

Hereditary cancer risk assessment helps estimate the likelihood of genetic mutations linked to cancer, using personal and family histories to guide clinical management and diagnosis.

Next-generation sequencing (NGS) panels have made molecular diagnosis of hereditary cancer more accessible, although there are challenges in coverage by public health systems in developing countries.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era. Gomy, I., Diz, Mdel P.[2020]

A web-based educational tool significantly increased knowledge and feelings of empowerment regarding genetic testing among 305 patients, regardless of their health literacy levels, indicating its effectiveness in educating patients before genetic counseling.

The tool may help address the shortage of trained genetic providers by streamlining the delivery of genetic services, as it was shown to enhance patient understanding without altering attitudes towards testing.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

A Web-Based Tool to Automate Portions of Pretest Genetic Counseling for Inherited Cancer. Cragun, D., Weidner, A., Tezak, A., et al.[2021]

References

1. Netherlands pubmed.ncbi.nlm.nih.gov

Outcomes of a systems-level intervention offering breast cancer risk assessments to low-income underserved women. [2022]

2. United States pubmed.ncbi.nlm.nih.gov

Assessing, Counseling, and Treating Patients at High Risk for Breast Cancer. [2018]

3. England pubmed.ncbi.nlm.nih.gov

A UK collaborative 1-day pilot information and support forum facilitated by a national breast cancer charity and NHS cancer genetic counsellors, for women at high risk, BRCA 1/2 gene carriers and hereditary breast cancer. [2016]

4. United States pubmed.ncbi.nlm.nih.gov

Chatbot Artificial Intelligence for Genetic Cancer Risk Assessment and Counseling: A Systematic Review and Meta-Analysis. [2023]

5. England pubmed.ncbi.nlm.nih.gov

Patient-facing digital tools for delivering genetic services: a systematic review. [2023]

6. Switzerland pubmed.ncbi.nlm.nih.gov

Acceptability and Usability of the Family Gene Toolkit for Swiss and Korean Families Harboring BRCA1/BRAC2 Pathogenic Variants: A Web-Based Platform for Cascade Genetic Testing. [2023]

7. Switzerland pubmed.ncbi.nlm.nih.gov

Breast cancer risks and risk prediction models. [2022]

8. Netherlands pubmed.ncbi.nlm.nih.gov

Feasibility evaluation of an online tool to guide decisions for BRCA1/2 mutation carriers. [2021]

9. United States pubmed.ncbi.nlm.nih.gov

Identification and management of women at high risk for hereditary breast/ovarian cancer syndrome. [2009]

10. Netherlands pubmed.ncbi.nlm.nih.gov

Initial clinical validation of Health Heritage, a patient-facing tool for personal and family history collection and cancer risk assessment. [2019]

11. England pubmed.ncbi.nlm.nih.gov

Cancer genetics. [2017]

12. England pubmed.ncbi.nlm.nih.gov

Perceptions of genetic risk assessment and education among first-degree relatives of colorectal cancer patients and implications for physicians. [2019]

13. Brazil pubmed.ncbi.nlm.nih.gov

Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era. [2020]

14. United States pubmed.ncbi.nlm.nih.gov

A Web-Based Tool to Automate Portions of Pretest Genetic Counseling for Inherited Cancer. [2021]