Breast Cancer RiskNCT03688204
Clinical Implementation of a Polygenic Risk Score (PRS) for Breast Cancer
An observational study of Breast Cancer Risk, run by Ambry Genetics at 3 sites in United States.
Trial summary
This study aims to assess how a polygenic risk score (PRS) reported with the results of multi-gene panel testing affects the breast cancer risk management recommendations healthcare providers make to their patients. The PRS is a score based on small genetic changes, clinical history, and family history. Read more about this study
- Who is it for?
- Ages 18 years and older, women only
- Conditions the study is for
- Breast Cancer Risk
- How many people
- 118 participants
- Where
- 3 sitesUnited States
- Study dates
- 21 Sep 2018to 11 Nov 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- Women only
- No healthy volunteers
- Adult, Older adult
Study population: The study population will include 2000 individuals with a family history of breast and/or ovarian cancer who present for genetic counseling at one of the investigative sites. The investigative sites will be clinics that regularly sees patients that meet the above description.
Who may be able to join
- Female, age ≥ 18 years
- Willing and able to provide meaningful informed consent
- Willing and able to complete study procedures as described in this protocol
- Electing to undergo multi-gene panel testing for hereditary breast cancer for clinical purposes at the time of consent
- No personal history of cancer (except non-melanoma skin cancer) and meets NCCN guidelines for BRCA1/2 testing based on family history of breast and/or ovarian cancer
- Meets Ambry criteria for clinical reporting of PRS score
Who cannot join
- Prior germline BRCA1/2 testing
- Not willing to receive PRS
- Personal history of cancer, except non-melanoma skin cancer
- Personal history of allogenic bone marrow/stem cell transplant
Trial locations and contacts
3 sites in 1 country.
United States3 sites
Providence Roy and Patricia Disney Family Cancer Center
Burbank, California, 91505
Edwards Comprehensive Cancer Center
Huntington, West Virginia, 25701
St Joseph Hospital of Orange
Orange, California, 92868
About this study
Official title: Clinical Implementation of a Polygenic Risk Score (PRS) for Breast Cancer: Impact on Risk Estimates, Management Recommendations, Clinical Outcomes, and Patient Perception
This study aims to assess how a polygenic risk score (PRS) reported with the results of multi-gene panel testing affects the breast cancer risk management recommendations healthcare providers make to their patients. The PRS is a score based on small genetic changes, clinical history, and family history. The PRS is used to estimate remaining lifetime risk of developing breast cancer for patients with no personal history of breast cancer and an overall negative result from MGPT.
- Conditions
- Breast Cancer Risk
- Keywords
- Breast Cancer, Breast Neoplasm, Genetic Testing, Breast Cancer Risk, Cancer Risk, Risk Score, Genetic Risk Score, Polygenic Risk Score, Personalized Risk Score
- Medical subject headings
- Breast Neoplasms, Genetic Risk Score
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in Breast Cancer Risk Management Recommendations
Breast Cancer Risk Management Recommendations are recorded at two separate times; first recommendations will be recorded by the investigator or his/her designee based on the results of MGPT only. After these recommendations are recorded, the complete report including the PRS will be released. Then the healthcare provider will record recommendations again based on the results of MGPT and PRS. The difference between these recommendations will be used as a measure of the effect a PRS has on breast cancer risk management recommendations made by healthcare providers.
Measured: First recommendations will be made within 45 days of the initial study visit. Second recommendations will be made within 75 days of the initial study visit.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Sep 2018
- Study start21 Sep 2018
- Primary completion11 Nov 2020
- Study completion11 Nov 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Breast Cancer RiskStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 118 participants (actual)
Sponsor and investigators
- Lead sponsor
- Ambry Genetics
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Brigette Tippin-Davis, PhD, Study director, Ambry Genetics
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03688204
- Sponsor's protocol ID
- SNP-17-001
- Status last verified
- Mar 2022
- First submitted
- 20 Sep 2018
- Last updated
- 7 Mar 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 Mar 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Implementation of a Polygenic Risk Score (PRS) for Breast Cancer: Impact on Risk Estimates, Management Recommendations, Clinical Outcomes, and Patient Perception
- ClinicalTrials.gov ID
- NCT03688204
- Acronym / sponsor ID
- SNP-17-001
- Conditions
- Breast Cancer Risk
- Keywords
- Breast Cancer, Breast Neoplasm, Genetic Testing, Breast Cancer Risk, Cancer Risk, Risk Score, Genetic Risk Score, Polygenic Risk Score
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 118 participants (actual)
- Lead sponsor
- Ambry GeneticsIndustry (pharma, biotech, devices)
- Study start
- 21 Sep 2018 (actual)
- Primary completion
- 11 Nov 2020 (actual)
- Study completion
- 11 Nov 2020 (actual)
- First posted
- 28 Sep 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This study aims to assess how a polygenic risk score (PRS) reported with the results of multi-gene panel testing affects the breast cancer risk management recommendations healthcare providers make to their patients. The PRS is a score based on small genetic changes, clinical history, and family history. The PRS is used to estimate remaining lifetime risk of developing breast cancer for patients with no personal history of breast cancer and an overall negative result from MGPT.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- The study population will include 2000 individuals with a family history of breast and/or ovarian cancer who present for genetic counseling at one of the investigative sites. The investigative sites will be clinics that regularly sees patients that meet the above description.
Key inclusion criteria (6 listed)
- Female, age ≥ 18 years
- Willing and able to provide meaningful informed consent
- Willing and able to complete study procedures as described in this protocol
- Electing to undergo multi-gene panel testing for hereditary breast cancer for clinical purposes at the time of consent
- No personal history of cancer (except non-melanoma skin cancer) and meets NCCN guidelines for BRCA1/2 testing based on family history of breast and/or ovarian cancer
Key exclusion criteria (4 listed)
- Prior germline BRCA1/2 testing
- Not willing to receive PRS
- Personal history of cancer, except non-melanoma skin cancer
- Personal history of allogenic bone marrow/stem cell transplant
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Change in Breast Cancer Risk Management Recommendations
Time frame: First recommendations will be made within 45 days of the initial study visit. Second recommendations will be made within 75 days of the initial study visit.
Breast Cancer Risk Management Recommendations are recorded at two separate times; first recommendations will be recorded by the investigator or his/her designee based on the results of MGPT only. After these recommendations are recorded, the complete report including the PRS will be released. Then the healthcare provider will record recommendations again based on the results of MGPT and PRS. The difference between these recommendations will be used as a measure of the effect a PRS has on breast cancer risk management recommendations made by healthcare providers.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Mar 2022.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Brigette Tippin-Davis, PhD study director
Ambry Genetics
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Breast Cancer Risk, run by Ambry Genetics at 3 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 7 Mar 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in Breast Cancer Risk Management Recommendations (time frame: First recommendations will be made within 45 days of the initial study visit. Second recommendations will be made within 75 days of the initial study visit.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 7 Mar 2022.