Evaluation of Multi-Cancer Early Detection Testing in a High-Risk Population: The INFORM Study

Launched by DANA-FARBER CANCER INSTITUTE · Jun 7, 2024

Keywords

ClinConnect Summary

The INFORM Study is looking at a new blood test called the GRAIL Galleri test, which aims to find multiple types of cancer early in people who are at high risk. This research is important because early detection can lead to better treatment outcomes. The study is currently recruiting participants aged 22 and older who have a genetic predisposition to cancer or a significant family history of certain cancers. This includes individuals with known genetic mutations related to cancer or those with multiple family members affected by specific types of cancer at younger ages.

Participants in the study can expect to have their blood tested using the Galleri test, and they will be monitored for any potential benefits or drawbacks from this screening. It’s essential to note that individuals currently being treated for cancer or who have had certain cancer-related surgeries may not be eligible to join. If you or a loved one has a strong family history of cancer or known genetic risks, this trial could be an opportunity to contribute to important research that may help improve cancer detection in the future.

Gender

ALL

Eligibility criteria

• 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)