Our genetic makeup not only dictates our physical traits but also influences our susceptibility to cancer and other serious health issues. In recent years, the field of genetics has emerged as a beacon of hope, offering insights that empower individuals to make informed decisions about their health. Through advanced DNA sequencing techniques and analysis, medical geneticists can identify predispositions to numerous conditions, including cancer. These genetic evaluations help patients take early actions that reduce risk and improve quality of life.

Assessing Cancer Risk

Medical geneticists assess a patient’s risk for various cancers by analyzing genetic markers associated with hereditary cancer syndromes. The results of a cancer risk assessment can help you make important decisions for you and your family.

When Should You See a Geneticist for Cancer Risk Assessment?

Family History

Individuals with a family history of certain cancers may benefit from genetic testing and evaluation. This applies to you if you have had multiple relatives diagnosed with the same type of cancer, especially at a young age.

Personal History of Cancer

Individuals who had cancer at a young age, especially if it was an uncommon type or if they have had multiple primary cancers, should consider genetic testing. A genetic evaluation will help to assess the risk of developing additional cancers and potentially reveal additional information about their medical history.

Ethnic Background

Some ethnic groups, such as individuals of Ashkenazi Jewish descent, have a higher prevalence of specific genetic mutations associated with an increased risk of certain cancers, like breast and ovarian cancer (BRCA1 and BRCA2 mutations).

Taking Action to Reduce Cancer Risk and Improve Outcomes

Once a genetic risk is known, care providers can work with the patient to develop proactive screening and prevention strategies. By enacting a proactive approach, individuals can increase their likelihood of a longer, healthier life, while saving vast amounts of anxiety and medical expenses.

What Actions Are Possible for High-Risk Individuals? 

Targeted and Increased Surveillance

Based on DNA analysis, a geneticist may recommend increased surveillance through regular screenings and imaging tests. For instance, women with a BRCA1 or BRCA2 mutation might opt for more frequent mammograms and breast MRIs starting at a younger age. Another example is patients with Lynch syndrome, who may start various screenings, including annual colonoscopies, in their twenties or thirties.

Risk-Reducing Surgeries

Some individuals choose to undergo surgeries to reduce their risk of developing cancer. For example, women with a BRCA mutation may opt for prophylactic mastectomy (removal of the breasts) and/or salpingo-oophorectomy (removal of the ovaries and fallopian tubes). If you have a BRCA mutation, these surgeries are the most effective action you can take to prevent breast and ovarian cancer.


Providers may recommend starting medication to reduce the risk of certain cancers. For example, selective estrogen receptor modulators (SERMs) like tamoxifen or aromatase inhibitors may reduce the risk of breast cancer in certain patients.

Lifestyle Modifications

Individuals can make lifestyle changes to reduce their risk of developing cancer. These changes may include maintaining a healthy weight, exercising regularly, limiting alcohol consumption, avoiding tobacco products, and modifying their diet.

Being Proactive Has Physical, Mental, Financial and Family Benefits

Medical geneticists can empower individuals to forge a path towards proactive care and informed decision-making. Preventative action offers many benefits, not only in terms of enhanced outcomes and reduced risk but also in terms of cost savings and improved overall well-being. 

Early Detection and Treatment

Proactive measures often involve increased cancer screenings and medical check-ups. Early detection of cancer or other health issues can significantly increase the chances of successful treatment and improved outcomes. Identifying cancer in its early stages may allow for less invasive treatment options and better prognosis. In some instances, providers can use a patient’s genetic profile to tailor cancer treatment to improve efficacy and reduce side effects.

Family Awareness and Testing

If you are at risk for cancer, other family members may be as well. Doing a cancer screening for yourself can pave the way for targeted testing and surveillance among your relatives. A medical geneticist and genetic counselor can explain what your genetic evaluation results mean for you and your family, including recommending who else should consider testing. This family-centered approach can reduce risk and lead to potentially life-saving early detection for family members.

Peace of Mind

Knowing that you are taking steps to monitor and manage your health can provide peace of mind. These actions can help you feel more in control of your health and alleviate anxiety and fear associated with uncertainty about health risks. 

Cost Savings

Undergoing cancer treatment is not only physically and mentally exhausting but often comes with an exorbitant price tag. Investing in preventive care can lower your long-term healthcare costs. Preventative actions and early detection can reduce the need for expensive cancer treatments, hospitalizations and medications, adding up to significant lifetime savings.

Enhanced Quality of Life

Habits such as exercising regularly, eating healthy, and avoiding tobacco and excessive alcohol consumption go beyond reducing the risk of cancer and contribute to overall well-being and vitality. A healthy lifestyle can lead to increased energy levels, improved mood, better sleep quality, enhanced physical and mental function, and even an increased lifespan.

How to Request a Genetic Evaluation for Cancer Risk

If you want to understand your risk for cancer and other genetic conditions, talk with your doctor about seeing a genetic counselor or medical geneticist. You can also contact our medical genetics clinic to speak directly with the SequenceMD team about our services.