Cancer Predisposition Syndrome, Predisposition, Genetic
Conditions
Keywords
Cancer Predisposition Syndrome, Predisposition, Genetic
Brief summary
The purpose of this research study is to evaluate the possible benefits and harms of screening with an investigational blood test designed to detect many types of cancer early. The name of the screening blood test being studied is: -GRAIL Galleri test
Detailed description
This is a prospective, interventional study to assess the use of the GRAIL's Galleri multi-cancer early detection (MCED) Test, an investigational blood test designed to detect many types of cancer, for participants that are considered at slightly higher than average risk of developing certain types of cancers. The test looks for small pieces of genetic material called deoxyribonucleic acid (DNA) in the blood that may indicate the presence of cancer. The research study procedures include screening for eligibility, blood tests, questionnaires, and clinic visits. Participation in this research study is expected to last up to 3 years. It is expected that about 1,000 people will take part in this research study.
Interventions
OTHERGRAIL Galleri Test
A multi-cancer early detection (MCED) blood test.
Sponsors
Dana-Farber Cancer Institute
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
SCREENING
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
22 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
Group 1- Cancer Predisposition Syndrome: * Age ≥ 22 for patients with TP53 germline pathogenic variants, age ≥ 35 for all other variants in cancer predisposing genes * Germline genetic testing revealed pathogenic germline variants in cancer predisposing genes (list of genes typically tested listed in pre-screening document) * Individuals with a clinically based diagnosis of a Cancer Predisposition Syndrome (examples, neurofibromatosis, Fanconi Anemia, Ataxia-Telangiectasia) Inclusion Criteria Group 2 - Familial Risk: * Age ≥ 45 * Adults with family history suggestive of elevated cancer risk as defined by any the criteria below, who do not fall into Group 1: * ≥ 1 first or second degree relative on same side of the family with: * Breast, colon, gastric, endometrial, kidney cancer at or before age 50 * Triple negative breast cancer (any age) * Male breast cancer (any age) * Ovarian, pancreatic, sarcoma cancer (any age) * Neuroendocrine cancer or tumors (any age) * Metastatic prostate cancer (any age) * Multiple primary cancers (example bilateral breast cancer) * ≥ 2 first or second degree relative on same side of the family (any combination is acceptable) with breast or prostate cancer at any age
Exclusion criteria
* Individuals diagnosed with invasive malignancy within 3 years of enrollment * Have had a blood-based multi-cancer screening test within last year * Individuals with evidence of symptomatic or active cancer requiring active therapeutic intervention at the time of participation (hormone therapy for breast/prostate cancer is considered acceptable and will not preclude participation) * Individuals in Group 2 whose family history of cancer was the result of a germline mutation in a cancer predisposing gene and who have tested negative for that same familial germline mutation * Individuals in Group 2 whose family history of cancer is sex-specific and who is a different sex than the proband with cancer (e.g., a male with a family history of endometrial or ovarian cancer would not be eligible) * Individuals in process of being evaluated for clinical suspicion of cancer * Individuals who have undergone a cancer risk-reducing surgery for hereditary cancer risk (e.g., mastectomy)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Cancer Detection Rate | Up to 2 years | Descriptive statistics will be used to summarize the number and types of cancers diagnosed by GRAIL Galleri MCED testing. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Stage of Invasive Cancer Diagnosis | Up to 2 years | Descriptive statistics will be used to summarize the stages of invasive cancer that are diagnosed by GRAIL Galleri MCED testing and assessed by medical record review. |
| Positive Predictive Value At 12 Months | At 12 months | Positive Predictive Value is defined as the proportion of participants with cancer diagnosis out of all participants with "signal detected" on GRAIL Galleri MCED test results. |
| Positive Predictive Value at 24 Months | At 24 months | Positive Predictive Value is defined as the proportion of participants with cancer diagnosis out of all participants with "signal detected" on GRAIL Galleri MCED test results. |
| Time to Diagnostic Resolution | Calculated from the date of return of screening results (up to 4 weeks from baseline) until up to 24 months post screening | Defined as the time required to achieve diagnostic resolution following a "signal detected" GRAIL Galleri MCED test result. |
| Test Type Utilization to Diagnostic Resolution | Up to 24 months | Per participant the count of the number and types of diagnostic tests required to achieve diagnostic resolution following a "signal detected" GRAIL Galleri MCED test result. |
| Change in Participant Anxiety | Up to 24 months | Changes in anxiety following the GRAIL Galleri MCED test result and assessed by the Patient-Reported Outcome Measurement Information System (PROMIS) Emotional Distress Anxiety - Short Form 6a, which is a 6 item survey that is rated on a 5-point Likert scale with answers ranging from "Never" to "Always". The range of scoring is from 6 to 30 with higher scores indicating greater severity of anxiety. |
| Change in Participant Health-related Quality of Life | Up to 24 months | Changes in health-related quality of life following the GRAIL Galleri MCED test result and assessed by PROMIS Scale v1.2 - Global Health, a 10 item survey that is rated on a 5-point Likert scale with answers ranging from "Excellent/Completely/Never/None" to "Poor/Not at all/Always/Very Severe" and includes a pain average question rated on a scale of 0 "No Pain" to 10 "Worst Pain Imaginable." The range of scoring is from 9 to 45 with higher scores indicating higher quality of life. |
| Cost of Follow-up Testing | Up to 24 months | Defined as the dollar cost, per participant, of follow-up testing to achieve diagnostic resolution following a "signal detected" GRAIL Galleri MCED test result. |
| Institutional Reimbursement of Follow-up Testing | Up to 24 months | Defined as the dollar cost, per participant, of the institutional reimbursement of follow-up testing to achieve diagnostic resolution following a "signal detected" GRAIL Galleri MCED test result. |
Countries
United States
Contacts
CONTACTElizabeth ODonnell, MD
PRINCIPAL_INVESTIGATORElizabeth ODonnell, MD
Dana-Farber Cancer Institute
Outcome results
None listed