Free germline genetic testing now available for all men with prostate cancer through the PROMISE registry

Seattle Cancer Care Alliance (SCCA) is recruiting patients with prostate cancer to participate in a new registry called PROMISE — Prostate Cancer Registry of Outcomes and Germline Mutations for Improved Survival and Treatment Effectiveness. The PROMISE registry will help researchers learn more about how germline mutations affect prostate cancer outcomes.

Heather H. Cheng, MD, PhD
Heather H. Cheng, MD, PhD

Heather Cheng, MD, PhD, director of Seattle Cancer Care Alliance (SCCA) Prostate Cancer Genetics Clinic, is a principal investigator for PROMISE. A leading expert in inherited genetics of prostate cancer risk, Dr. Cheng uses genomics to drive precision-based prostate cancer treatment.

“In PROMISE, we’re following patients receiving all types of treatments,” says Dr. Cheng. “Over time, this will help us figure out why some patients respond and others don’t and identify patterns associated with the best responses.”

The PROMISE registry offers:

  • Free germline genetic screening for patients in the U.S. at any stage of treatment or survivorship
  • Registry enrollment for anyone with a germline mutation of interest
  • Long-term tracking of registry participants, including their treatments and outcomes
  • Notification of registry participants and their physicians about new treatments and available clinical trials

Continuing the tradition of prostate cancer genetics research

PROMISE builds upon pioneering prostate cancer genetics research at SCCA, Fred Hutch and UW Medicine. In a landmark study published in 2016 in the New England Journal of Medicine, UW Medicine researchers, including Dr. Cheng, identified germline mutations in 11.8% of men with metastatic prostate cancer.

These mutations included BRCA1, BRCA2 and others, including some that are also connected with inherited breast and ovarian cancers. Identifying genetic mutations in patients has significant treatment implications since drugs can target cellular processes in these types of cancer.

The 2016 study and others prompted the National Comprehensive Cancer Network (NCCN) to update its prostate cancer guidelines in 2019. The current guidelines recommend genetic testing for all men with metastatic, high-risk localized and node-positive prostate cancer. But PROMISE goes beyond that, says Dr. Cheng.

“PROMISE extends beyond these high-risk groups and hypothesizes that genetic testing is important for all men with prostate cancer,” she says. “We know that some men with low-risk disease have genetic mutations, but we don’t know how many. It may be a smaller fraction, but it is no less important, especially for the family members who may also be impacted.”

PROMISE is open to all patients with prostate cancer

The goals of PROMISE are two-fold. The first is to offer free virtual genetic testing and counseling. This benefits patients who:

  • Are not currently eligible for genetic testing based on the current guidelines
  • Are eligible, but have insurance barriers
  • Do not have access to local genetic counseling services

The second goal is to follow patients with known germline mutations long-term to determine clinical and treatment outcomes. “We are also very interested in recruiting individuals with prostate cancer who have an inherited cancer risk mutation, ,” says Dr. Cheng. “By participating, they will help us better understand current treatment modalities and patient outcomes. We hope to give that learning back to them and their families.”

Patient registration began in 2021 and will continue through 2026. Researchers will follow patients for at least 15 years.

The promise of PROMISE: Knowledge is power

Dr. Cheng and her colleagues will recruit approximately 5,000 men with prostate cancer for germline genetic screening to identify:

  • 400 men with pathogenic and likely pathogenic variants
  • 100 men with variants of uncertain significance

Eligibility criteria to participate in PROMISE include:

  • Age 18 or older
  • Documented prostate cancer by tissue biopsy, PSA > 100 ng/dL or imaging
  • U.S. residency

Genetic testing and counseling are virtual

Patients can sign up for PROMISE on the study’s dedicated website www.prostatecancerpromise.org. After signing up, they receive a home saliva test kit to return by mail. Patients and their physicians receive results through the PROMISE portal in four to eight weeks.

Patients who receive a positive test result meet virtually with a PROMISE genetic counselor. This visit focuses on what the results mean and how the genetic mutation may impact the patient and their family. Patients with negative test results also have the option to schedule a genetic counseling visit. 

Registry includes patients with germline mutations of interest

Patients with certain genetic mutations become part of the registry. The test kit screens for 30 cancer risk genes, such as:

  • ATM
  • BRCA1
  • BRCA2
  • BRIP1
  • CHEK2      
  • MLH1
  • MSH2
  • MSH6
  • PALB2
  • PMS2
  • PTEN
  • RAD51C
  • RAD51D
  • TP53 

Tracking involves clinical data collection and patient surveys

Researchers use patient data to assess the association between germline mutations and disease characteristics. The PROMISE team collects patient data every six months through:

  • Patients’ medical records
  • Patient surveys

Data includes:

  • Demographics
  • Medical, social and family history
  • Disease state and histology
  • Cancer treatment history and hospitalization
  • Concomitant medications
  • Disease progression and routine lab values
  • Secondary malignancies
  • Overall survival
  • Quality of life/patient reported outcomes

Educational newsletters provide valuable information to patients and physicians

Participating patients and their physicians receive regular newsletters with updated information about:

  • New prostate cancer research results
  • Ongoing clinical trial and research opportunities
  • Prostate cancer treatments approved by the FDA

An opportune time for PROMISE

PROMISE comes at a time of rapid advancement in therapies that target inherited cancers. For example, PARP inhibitors and immune checkpoint inhibitors target cancers with specific gene mutations. Though these drugs can be very effective, many patients eventually develop resistance.

Current clinical trials are looking at combined therapies to increase the effectiveness of these drugs without side effects. By tracking patients long-term, PROMISE will help Dr. Cheng and her colleagues evaluate how patients respond to various therapies and identify the most therapeutic combinations.

Learn more about PROMISE

Dr. Cheng and Dr. Channing Paller, MD, of Johns Hopkins Medicine, are leading PROMISE in partnership with Advancing Cancer Treatment (ACT) and the Prostate Cancer Clinical Trials Consortium (PCCTC).

PROMISE is open to patients nationwide. To find out more, visit the PROMISE registry website at www.prostatecancerpromise.org

Biopsy The removal of a sample of tissue or fluid that is examined to see whether cancer is present. This may be done with a large needle or through surgical removal of tissue or fluids. Clinical trial A type of research study that tests how well new medical approaches work in people. These studies test new methods of screening, prevention, diagnosis or treatment of a disease. Disease progression When the disease is getting worse or spreading. Eligibility criteria In clinical trials, requirements that must be met for a person to be included in a trial. These requirements help make sure that participants in a trial are similar in terms of specific factors. In clinical trials, requirements that must be met for a person to be included in a trial. These requirements help make sure that participants in a trial are similar in terms of specific factors such as age, type and stage of cancer, general health and previous treatment. When all participants meet the same eligibility criteria, it is more likely that results of the study are caused by the intervention being tested and not by other factors or by chance. Gene The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein. Gene The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein. Genetic counselor A health care professional with special training in medical genetics and counseling. Genetic counselors help patients and families who have, or who may be at risk of, a genetic condition. A health professional who has special training in medical genetics and counseling. Genetic counselors help patients and families who have, or who may be at risk of, a genetic condition. They help patients find out their chances of having a genetic condition or of having a child or other family member with a genetic condition. They also help patients understand their options for genetic testing, including its risks and benefits. After genetic testing is done, genetic counselors help patients understand their test results, including how the results can affect other family members. They also provide counseling and support. Genetic testing Tests that can be done to see if a person has certain gene changes known to increase cancer risk. Metastatic A metastatic cancer is a cancer that has spread to other areas of the body by way of the lymph system or bloodstream. Mutation Any change in the DNA sequence of a cell. Mutations may be caused by mistakes during cell division, or they may be caused by exposure to DNA-damaging agents in the environment. Any change in the DNA sequence of a cell. Mutations may be caused by mistakes during cell division, or they may be caused by exposure to DNA-damaging agents in the environment. Mutations can be harmful, beneficial or have no effect. If they occur in cells that make eggs or sperm, they can be inherited; mutations that occur in other types of cells are not inherited. Certain mutations may lead to cancer or other diseases. A mutation is sometimes called a variant. Screening Checking for disease when there are no symptoms. Because screening may find diseases at an early stage, there may be a better chance of curing the disease Checking for disease when there are no symptoms. Because screening may find diseases at an early stage, there may be a better chance of curing the disease. Examples of cancer screening tests are the mammogram (for breast cancer), colonoscopy (for colon cancer) and Pap and HPV tests (for cervical cancer). Screening can also include a genetic test to check for a person’s risk of developing an inherited disease. Side effects A problem that occurs when treatment affects healthy tissues or organs. Some side effects of cancer treatment are nausea, vomiting, fatigue, pain, decreased blood cell counts, hair loss and mouth sores. Sign In medicine, a sign is something found during a physical exam or from a laboratory test that shows that a person may have a condition or disease. In medicine, a sign is something found during a physical exam or from a laboratory test that shows that a person may have a condition or disease. Some examples of signs are fever, swelling, skin rash, high blood pressure and high blood glucose. Stage The extent of a cancer in the body. Staging is usually based on the size of the tumor, whether lymph nodes contain cancer and whether the cancer has spread from the original site to other parts of the body. Prostate-specific antigen A protein made by the prostate gland and found in the blood. Prostate-specific antigen blood levels may be higher than normal in men who have certain prostate diseases or conditions.

A protein made by the prostate gland and found in the blood. Prostate-specific antigen blood levels may be higher than normal in men who have prostate cancer, benign prostatic hyperplasia (BPH), or infection or inflammation of the prostate gland.

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