What are the recommendations for Cancerguard (genetic cancer screening) testing and management?

From the Guidelines

Genetic cancer screening, such as CancerGuard testing, is generally recommended for individuals with a strong family history of cancer, known genetic mutations in family members, or personal history of cancer at a young age, and should be preceded by genetic counseling to discuss benefits, limitations, and potential psychological impacts, as recommended by the most recent guidelines 1.

Key Considerations

• Testing should be guided by a provider experienced in clinical cancer genetics, especially when considering testing for other cancer predisposition genes beyond BRCA1/2, as suggested by personal or family history 1.
• For patients without a pathogenic variant on genetic testing but with a significant family history of cancer, counseling and referral to a provider experienced in clinical cancer genetics are recommended 1.
• Genetic evaluations should be conducted in conjunction with healthcare providers familiar with hereditary cancer syndromes to determine the most appropriate testing strategy and discuss implications of findings for relatives 1.
• Post-test genetic counseling is strongly recommended to interpret results, especially when testing identifies a cancer predisposition syndrome (CPS), a variant of uncertain significance (VUS), or is negative but the patient’s history suggests a CPS 1.

Management and Follow-Up

• Management after testing depends on results, with positive results potentially warranting increased surveillance, preventive medications, or prophylactic surgeries.
• Negative results may allow for standard screening protocols, while variants of uncertain significance require ongoing follow-up.
• The value of genetic screening lies in its ability to identify cancer predisposition before disease onset, allowing for personalized prevention strategies.
• Insurance coverage varies, so patients should verify coverage before proceeding with testing, and results should always be interpreted by healthcare professionals with expertise in cancer genetics.

From the Research

Cancerguard Testing Recommendations

• The recommendations for Cancerguard (genetic cancer screening) testing and management vary depending on the individual's risk factors and genetic mutations 2, 3.
• For women with a hereditary breast cancer predisposition, options to reduce risk include screening, chemoprevention, and prophylactic surgery 2.
• Breast MRI is a more sensitive screening tool than mammography for women with a high risk of developing breast cancer, and any breast cancer screening strategy should incorporate screening with MRI 2.
• Chemoprevention reduces the risk of developing breast cancer, but it has not been shown to reduce mortality 2.
• Prophylactic surgery, such as prophylactic mastectomy, may reduce the risk of developing breast cancer by 90-95% in mutation carriers 2.

Management of Women with Genetic Mutations

• Women who carry mutations that increase breast cancer risk should be informed of the potential risks and benefits of the available options to reduce breast cancer risk 2.
• A study of women with BRCA1 or BRCA2 mutations found that approximately one-half of the women at risk for breast cancer relied solely on screening, while others opted for prophylactic oophorectomy, prophylactic mastectomy, or chemoprevention 3.
• Another study found that consideration of prophylactic oophorectomy and tamoxifen was positively associated with perceived cancer risk in women with a family history of breast/ovarian cancer 4.

Screening for Cancer

• Early detection of cancer is a core task in family medicine, and patients have come to expect screening tests, sometimes out of proportion to what evidence can justify 5.
• The best method for evaluating the benefit of screening tests is a randomized controlled trial showing decreased disease-specific or all-cause mortality 5.
• Accepted screening tests often require screening several hundred to more than 1,000 asymptomatic patients to prevent one death from the disease 5.

Patient Attitudes towards Genetic Testing

• A study of patients with cancer found that a majority of patients were willing to undergo somatic genetic testing, but expressed concerns about psychological harm and discrimination 6.
• Patients also expressed a willingness to undergo germline testing, but were more reluctant to undergo full genome sequencing due to concerns over incidental findings and information overload 6.