Proactive genetic screening tests

Why consider proactive genetic testing

Proactive genetic tests are designed to analyze your DNA, helping uncover any genetic predispositions to certain health conditions or inherited disorders. These tests focus on prevention and empowering you to make informed choices about your health, rather than diagnosing existing symptoms.

Types of proactive genetic tests

Cardiovascular risk screening
  • Discover your risk for conditions like high cholesterol, heart disease, or arrhythmia

  • Take preventive steps, such as making lifestyle changes or scheduling regular checkups, to protect your heart health

Hereditary cancer screening
  • Discover your risk for conditions like high cholesterol, heart disease, or arrhythmia

  • Take preventive steps, such as making lifestyle changes or scheduling regular checkups, to protect your heart health

Carrier screening
  • Find out if you’re a carrier for genetic conditions like cystic fibrosis, Tay-Sachs, or sickle cell anemia

  • Gain insights that are especially useful for family planning, helping you understand potential risks to your children

To learn more about carrier screening, click here

Understanding the results

Tailored preventive measures

Depending on your results, you may be advised to:

  • Begin regular screenings earlier than recommended for the general population (eg, mammograms or colonoscopies

  • Make lifestyle adjustments (eg, diet, exercise, or smoking cessation

  • Consider medical interventions, such as prophylactic surgeries in high-risk cases (eg, BRCA mutations)
Wellness and lifestyle changes
  • Your results may provide information on traits like metabolism, nutrient absorption, or fitness potentia

  • You can optimize your diet, exercise routine, and lifestyle based on your genetic tendencies

Sharing insights about inherited risks with family members
  • Results may highlight risks that could also affect relatives, prompting them to consider genetic testing or preventive care

Limitations and follow-ups
  • Not all genetic risks are covered, and some conditions may involve environmental or lifestyle factors. A “negative” result does not eliminate the risk entirely

  • Genetic counselors or healthcare providers will interpret your results and recommend follow-up actions, additional tests, or ongoing monitoring as needed

What’s the testing process?

The Blueprint Genetics proactive genetic screening process is simple and straightforward.

1) Initial consultation

Meet with your doctor (or genetic counselor)

Discuss your medical and family history, as well as your goals for testing (eg, understanding health risks, family planning).

Choose the right test

Your provider will help select the appropriate genetic screening panel based on your needs (eg, hereditary cancer, cardiovascular risk, or carrier screening).

2) Sample collection

Simple and noninvasive process

Provide a sample for DNA analysis, typically one of the following:

  • Blood sample: Collected at a clinic or lab
  • Saliva sample: Collected via a spit tube or cheek swab, often at home with a test kit‎

3) DNA analysis in the lab

Behind the scenes
  • Your sample is sent to the genetic testing lab (eg, Blueprint Genetics), where advanced technologies like next-generation sequencing are used to analyze your DNA
  • The lab searches for genetic variants associated with health risks, carrier status, or medication response‎

4) Waiting for the results

Processing time
  • Results typically take 4-6 weeks, depending on the complexity of the test
  • During this time, your sample is carefully analyzed, and findings are interpreted by genetic experts

5) Receiving your results

Comprehensive report
  • Your results are delivered to your healthcare provider (or genetic counselor), who will explain the findings.
The report includes:
  • Identified genetic risks
  • Carrier status for inherited conditions
  • Insights into drug response (if applicable)
  • Recommendations for follow-up actions‎

6) Follow-up consultation

Discussing the results

Your doctor (or genetic counselor) will help you understand what the results mean for your health, lifestyle, or family planning.

Developing a plan

Based on the results, you may discuss preventive measures, lifestyle changes, or further testing (eg, early screenings or family member testing).

7) Taking action

Proactive steps

Depending on the findings, you may be advised to:

  • Begin early screenings (e.g. mammograms or colonoscopies)
  • Make lifestyle adjustments (e.g improved diet, exercise, or stress management)
  • Consider reproductive options (eg, IVF with genetic testing or prenatal testing)
Peace of mind

If no significant risks are found, you can proceed with confidence and continue routine health monitoring.

Case Study #1: Maria, 35-year-old professional

Maria is a 35-year-old woman with no significant health issues. She is proactive about her health and wants to understand her genetic risks to make informed decisions for her future and family.

Initial consultation

Maria consults her doctor, explaining her family history and concerns. Her aunt was diagnosed with breast cancer in her 50s. Maria agreed to a proactive genetic screening with a focus on hereditary cancer risk.

Sample collection

Maria provides a saliva sample using a home testing kit, which she sends back to the lab for analysis. The process is simple and takes just a few minutes.

Results

After 4 weeks, Maria’s doctor receives her results, which include the following findings:

Comprehensive Cancer Screen test did not identify cancer-associated variants in this individual

Follow-up consultation

Maria meets with a genetic counselor to review her results.

Why choose Blueprint Genetics?

Choosing Blueprint Genetics means selecting a trusted provider dedicated to empowering you with reliable, clear, and actionable genetic information. With a strong commitment to your health and well-being, here’s why Blueprint Genetics stands out for your genetic screening needs.

  • Comprehensive testing for your journey with practical insights that help you and your healthcare provider make proactive decisions about your health and family planning
  • Commitment to high quality standards and advanced technology means you can trust the accuracy and reliability of your results
  • Personalized reporting that’s easy to understand and gives you a clear view of your genetic health and risks
  • Ethical, transparent practices, offering clear insights into what is being tested and how your results will be used, so you always know what to expect
  • Tests that are designed to address genetic diversity, ensuring relevant insights across various ethnicities and populations. We serve a global audience, making testing accessible worldwide
  • Commitment to innovation ensures you receive insights that reflect the most current and reliable genetic knowledge
  • Holistic, proactive health insights that don’t just identify risk—they empower you to make proactive health choices, supporting long-term health and well-being

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Page last modified: April 30, 2025