Prostate Cancer 
Genetic Test 

Which Men Should Consider Biopsy

When PSA is Moderately-Elevated

or

PSA is Abnormal but No Lesion Detected on MRI (15-20% False Negative)

When integrated with clinical factors - such as age, PSA values, and DRE findings - genetic risk stratification may support decision-making regarding MRI referral and biopsy necessity (1, 2)

For male patients with elevated PSA levels, our genetic test offers screening for rare pathogenic variants associated with increased prostate cancer risk and aggressiveness, and a Polygenic Risk Score (PRS).

• Certain rare germline mutations are associated not only with an increased risk of developing prostate cancer, but also with a predisposition to more aggressive - metastatic prostate cancer (3).

• Polygenic Risk Scores (PRS) for prostate cancer quantify an individual’s genetic risk based on the combined effect of up to a million of common genetic variants.

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• Recent large cohort studies have shown that PRS can stratify men by lifetime risk of developing prostate cancer, independent of family history or PSA levels (1, 2).

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• Clinically, PRS and monogenic testing, when combined with test results like PSA levels, helps doctors decide which men might need a prostate biopsy sooner by identifying those with higher lifetime genetic risk, while also helping to avoid unnecessary or delay biopsies in men with lower risk (1-6).​​

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• These germline variants are stable over a patient's lifetime and are not influenced by modifiable risk factors such as diet or lifestyle.

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A positive report for patients with moderately-elevated PSA may inform biopsy necessity or MRI screening versus additional PSA testing: ​

a. Pathogenic Variant Finding in High-Risk Genes (e.g., BRCA1/2, PALB2) or Genes Associated with Metastatic Cancer (e.g. BRCA2, ATM, and NBN)

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• Consider:

  • Biopsy necessity or MRI screening

• PRS not required to make decision

b.  ​​​No Pathogenic Variant, or Only a VUS was Detected

Add Galatea StrataRisk™ PRS

• If result is "HIGH Polygenic Risk"

  • Consider:

    • Biopsy necessity or MRI screening

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• If result is "NOT HIGH Polygenic Risk", no pathogenic variant detected and no suspicious DRE

  • Consider:

    • Continue PSA surveillance, or shared decision-making based on other clinical risks and family history. ​​

​a. Clinical Indications* for testing, with results that may inform biopsy or MRI necessity

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• Age<59, PSA>2.5 ng/mL, with or without findings suggestive of malignancy on digital rectal examination (DRE)

• Age 60 and older, PSA>3.5 ng/mL, with or without suspicious DRE

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b. Personal or family cancer history**

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• Personal history of metastatic prostate cancer

• Personal history of prostate cancer and with at least one first- or second-degree relative with a BRCA-associated cancer (e.g., breast, ovarian, pancreatic, or prostate cancer)

• No personal history of prostate cancer, and with one first- or second-degree relative with a history of metastatic prostate cancer; triple-negative breast cancer; breast cancer diagnosed at age 50 or younger; ​ovarian cancer or pancreatic cancer

​* Clinical Indications alone without a personal or family history are unlikely to be eligible for insurance coverage. 

** Personal or family cancer history are likely to be insurance-covered indications for testing.

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​​Contact us for more information on indications that may qualify for insurance coverage

• Methods

  • Multi-Gene Hereditary Cancer Panel

    • Whole genome sequencing  

  • Supplemental Polygenic Risk Score Analysis

• Sample Requirements

  • Buccal Swab, Saliva or 3mL whole blood in EDTA tube

  • Sampling can be completed at patient's home. 

• Laboratory

  • Test is performed at Galatea's U.S. CLIA-certified and CAP-accredited clinical laboratory​

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a. Pathogenic variants associated with elevated prostate cancer risk

b. Additional findings supported by emerging evidence:

• Pathogenic variants associated with metastatic prostate cancer risk

• Ancestry-adjusted, prostate cancer polygenic risk score specific to Whites, Hispanics, Blacks, Asians and other mix-raced individuals. 

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c. Friendly and Reassuring

Patients who consent will receive a personalized ancestry report.  

Clinical interpretation of results and clinical reports are provided by Galatea’s certified laboratory.

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Physician support is offered in partnership with Nova, which includes:

• Assistance correlating symptoms and family history with variant findings

• Help understanding test results and reports

• Support in communicating findings with families

• Next steps for follow-up or genetic counseling

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Genetic Counseling Support is provided by Galatea-affiliated, licensed genetic counselors

Insurance Support is available to assist physicians and families with pre-authorization and billing.