Cancer is a disease that profoundly impacts lives, often leaving individuals and families with uncertainty and fear. However, advancements in medical science now enable us to take proactive steps in understanding and managing cancer risk. One such breakthrough is genetic testing, which provides insights into inherited risks and empowers individuals to make informed health decisions. Whether you have a strong family history of cancer or are simply curious about your genetic makeup, understanding genetic testing can help you take control of your well-being.
This guide explores how genetic testing works, who may benefit from it, and what to expect from the process. More importantly, it acknowledges the emotional and personal aspects of genetic testing—because while knowledge is powerful, compassion in handling this information is just as essential.
What is Genetic Testing?
Genetic testing examines specific gene mutations that may increase an individual’s likelihood of developing cancer. By identifying inherited changes in genes such as BRCA1 and BRCA2—which are linked to breast and ovarian cancers—individuals can take preventive measures, including increased screenings, lifestyle adjustments, or even medical interventions.
Who Should Consider Genetic Testing?
Genetic testing may be beneficial for individuals who:
- Have multiple first-degree relatives (parents, siblings, children) diagnosed with cancer.
- Have family members diagnosed at an unusually young age.
- Have a family history of rare cancers, such as male breast cancer or childhood retinoblastoma.
- Belong to an ethnic group with a higher genetic predisposition to cancer (e.g., Ashkenazi Jewish ancestry and BRCA mutations).
- Have known inherited cancer syndromes in their family.
The Role of Genetic Counselling
Deciding to undergo genetic testing is a deeply personal choice. Genetic counsellors, trained healthcare professionals, play a crucial role in guiding individuals through the process. They provide clear explanations of test results, assess cancer risks, and help individuals decide on next steps, whether that means increased screenings, lifestyle changes, or medical interventions.
Genetic counselling ensures that individuals are emotionally supported and equipped with the knowledge needed to make the best decisions for themselves and their loved ones.
What to Expect from Genetic Testing
- Risk Assessment – A doctor or genetic counsellor will review personal and family medical histories.
- Informed Consent – A thorough discussion on potential outcomes, limitations, and ethical considerations.
- Sample Collection – A saliva, blood, or tissue sample is taken for analysis.
- Laboratory Analysis – Scientists examine genetic material for mutations.
- Results Interpretation – A genetic counsellor explains the findings and their implications.
Understanding Your Results
- Positive Result: Indicates a genetic mutation linked to an increased cancer risk. This does not mean cancer is inevitable but allows for proactive management through early detection, lifestyle changes, or medical interventions.
- Negative Result: Suggests no detected hereditary mutations. However, this does not eliminate general cancer risk, which can still be influenced by lifestyle and environmental factors.
- Variant of Uncertain Significance (VUS): A gene change with unclear effects on cancer risk. Further research and family history analysis may provide more clarity over time.
Taking Action Based on Results
If genetic testing identifies an increased cancer risk, various strategies can help manage and mitigate it:
- Lifestyle Modifications: A healthy diet, regular exercise, and avoiding carcinogens can help lower risk.
- Enhanced Screening: More frequent mammograms, colonoscopies, or other targeted tests can aid in early detection.
- Preventive Medications or Surgery: In some cases, chemoprevention drugs or preventive surgeries (such as mastectomy for BRCA-positive individuals) may be considered.
Genetic Testing and Family Conversations
A positive genetic test result doesn’t just affect one person—it provides valuable information for an entire family. Sharing results with relatives allows them to make informed decisions about their own health. However, these conversations can be emotional, as not everyone may wish to know their genetic risk. It’s important to approach these discussions with sensitivity, allowing family members to process information at their own pace.
Empowerment Through Knowledge and Support
Genetic testing is more than just a medical tool—it is a gateway to awareness, prevention, and peace of mind. While discovering an inherited cancer risk may feel overwhelming, it also presents an opportunity to take control of one’s health. With the right support system, including medical professionals, genetic counsellors, and loved ones, individuals can navigate their options with confidence.
Whether you are considering genetic testing for yourself or supporting a family member, remember that knowledge is power—and taking proactive steps today can lead to a healthier future for generations to come.
Author: Kanmanee Terdpravat MD., MSc. Integrative and Anti-Aging Medicine Physician, Absolute Health Integrative Medicine 20/2-7 Ruam Rudee VillageSoi Ruamrudee, Ploenchit Rd, Lumpini, Pathumwan, Bangkok 10330, Tel. 02-651 – 5988, https://absolute-health.org, https://www.facebook.com/absolutehealth.org, LINE OA: @absolutehealth
Series Editor: Katalya Bruton, Healthcare Content Editor and Director, Dataconsult Ltd. Dataconsult’s Thailand Regional Forum at Sasin provides seminars and extensive documentation to update business on future trends in Thailand and the Mekong Region. Contact: info@dataconsult.co.th, Tel: 662-233-5606/7
