Breast Cancer: Genetics and Family History

 

 

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Genetics and Family History

This is a key area. While you can't change your genes, knowing about specific genetic mutations can significantly impact your risk assessment. For instance, inherited mutations in genes like BRCA1, BRCA2, PALB2, CHEK2, and ATM are strongly linked to an increased lifetime risk of breast cancer. If you have a family history of breast cancer, ovarian cancer, or other related cancers, or if there's a known genetic mutation in your family, genetic testing can provide crucial personalized information about your predisposition. This knowledge empowers you and your doctor to discuss specialized screening protocols, preventative medications, or even proactive surgical options.

How Genetic Testing Works

Considering genetic testing can bring many questions, and understanding the process is key to feeling informed and confident. While individual experiences may vary, the journey typically involves several clear steps designed to provide personalized insights into your health and risk factors.

Below, we'll walk you through what to expect, from your initial consultation to receiving and understanding your results.

1. Initial Consultation & Risk Assessment

1. Initial Consultation & Risk Assessment

Your personalized genetic testing journey begins with a crucial Initial Consultation & Risk Assessment. This foundational step ensures a thorough review of your health profile and needs, setting the stage for all subsequent decisions. It typically involves:

  • Discussion with a Healthcare Provider: This is typically the first step. You'll meet with a doctor, genetic counselor, or specialized nurse practitioner.
  • Detailed Family and Personal Medical History: The provider will ask extensive questions about your personal health history and a multi-generational family history of cancers (breast, ovarian, prostate, pancreatic, etc.) and other relevant medical conditions. They'll look for patterns that suggest an inherited cancer syndrome.
  • Risk Assessment: Based on this information, the provider will assess your likelihood of carrying a harmful genetic mutation and determine if genetic testing is medically appropriate and recommended. They will explain the pros and cons, potential implications, and alternatives.

2. Pre-Test Counseling

Before any sample is collected for genetic testing, you'll undergo a vital pre-test counseling session. This is where a genetic counselor will empower you with comprehensive information, explaining what the test can detect, the meaning of various results (positive, negative, or inconclusive), and how these findings could impact your medical care, family, and even insurance. This crucial step ensures you understand all potential implications, allowing you to make a fully informed decision about whether genetic testing is right for you.

  • Informed Consent: If testing is recommended, a genetic counselor plays a crucial role. They will explain:
    • What the test can detect: Which genes will be analyzed (e.g., BRCA1, BRCA2, PALB2, ATM, CHEK2).
    • Potential results: What positive, negative, or inconclusive (Variant of Unknown Significance - VUS) results mean.
    • Implications of results: How positive results could impact medical management (screening, prevention, treatment), family members, and potentially even insurance (though legal protections exist).
    • Emotional and psychological aspects: The potential emotional impact of receiving results.
    • Privacy: How genetic information will be protected.
  • Choosing the Right Test: In some cases, there might be options for a smaller panel of genes vs. a larger one.

3. Sample Collection

Once you've made an informed decision to proceed with genetic testing, the next step involves collecting a sample for analysis. This process is generally straightforward and non-invasive, designed for your comfort and convenience.

  • Non-Invasive: Genetic testing is typically performed using a simple, non-invasive sample:
    • Blood Sample: The most common method, collected like any routine blood draw.
    • Saliva Sample: In some cases, a small amount of saliva collected in a special tube can be used.
  • Labeling and Shipping: The sample is carefully labeled with your unique identifiers and sent to a specialized genetic testing laboratory.

4. Laboratory Analysis

Following sample collection, your journey continues into the laboratory, where scientific experts meticulously analyze your DNA. This critical phase involves several sophisticated steps to accurately read and interpret your genetic information.
  • DNA Extraction: In the lab, DNA is extracted from your cells (from blood or saliva).
  • Gene Sequencing/Analysis: Sophisticated laboratory techniques (like next-generation sequencing) are used to "read" the genetic code of the targeted genes to identify any changes or mutations.
  • Interpretation: Lab scientists and geneticists analyze the findings and interpret the results, classifying identified variants as pathogenic (harmful), benign (harmless), or VUS.

5. Post-Test Counseling & Results Disclosure

Receiving your genetic test results is a pivotal moment, and our commitment is to ensure you understand their full implications and what comes next. This final stage involves a comprehensive consultation where your results are thoroughly explained and discussed.

  • Genetic Counselor Meeting: Once results are available (which can take several weeks), you will meet again with your genetic counselor or healthcare provider.
  • Explanation of Results: The counselor will explain your results in detail, clarifying what they mean for your personal health risk and for your family members.
  • Personalized Management Plan: Based on the results, a personalized medical management plan will be developed. This could include:
    • Increased surveillance (e.g., earlier and more frequent mammograms, MRI).
    • Preventative medications (e.g., tamoxifen).
    • Prophylactic surgeries (e.g., mastectomy, salpingo-oophorectomy).
    • Recommendations for family members to consider testing.
  • Emotional Support: The counselor will address any emotional concerns or questions you may have.

 

Request an Appointment for Genetic Testing

Why Re-Screening for Genetic Factors May Be Recommended, Even After a Previous Negative Result

While a prior negative result from genetic testing can provide significant reassurance, genetic science is a rapidly evolving field. There are several compelling reasons why women might be advised to consider re-screening for genetic factors, even if their previous results were negative.

1. Advancements in Genetic Technology

  • Discovery of New Genes: Genetic research continuously identifies new genes and specific mutations associated with various conditions (e.g., hereditary cancers). A test from five or ten years ago may not have included these newly discovered genetic markers.
  • Improved Testing Methods: The technology used for genetic testing is constantly advancing. Newer sequencing techniques can detect smaller deletions, duplications, or subtle genetic changes that older methods might have missed.
  • Expanded Test Panels: Earlier tests might have focused on a limited set of genes (e.g., BRCA1/2 only). Current, broader panels now cover a much wider array of genes linked to hereditary risks.

2. Changes in Personal or Family Medical History

  • New Diagnoses in Family Members: If a close relative is diagnosed with a genetic condition or a cancer with a strong hereditary link after your initial test, it can change your personal risk assessment and warrant re-evaluation.
  • New Personal Diagnosis: A new personal medical diagnosis, especially certain types of cancer at a younger age, could indicate a genetic predisposition not fully captured by previous testing.

3. Reclassification of Genetic Variants

  • Variants of Unknown Significance (VUS): Initial testing may have identified Variants of Unknown Significance (VUS) – genetic changes whose clinical impact wasn't clear at the time. With ongoing research, patient data, and family studies, many VUS are eventually reclassified as either benign (harmless) or pathogenic (disease-causing). A reclassified pathogenic VUS would necessitate a new interpretation of your risk.

4. Limited Scope of Initial Testing

  • Targeted or Older Tests: Some initial genetic tests were very targeted based on specific concerns or were conducted using older technologies with inherent limitations. A more comprehensive test today might cover gaps from previous analyses.

5. Evolving Clinical Guidelines

  • Updated Recommendations: Medical and genetic guidelines for screening and risk assessment are regularly updated. What was considered adequate testing in the past might not meet current standards or recommendations.

A negative genetic test result reflects the knowledge, technology, and personal/family history available at that specific time. Given the dynamic nature of genetic science, reviewing your genetic risk with a healthcare professional, such as a genetic counselor, can ensure you have the most up-to-date and accurate information for your health management.

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