Ask a Genetic Counselor: Do I Really Want to Know My Disease Risks?

We understand that sequencing your genome can be scary.

We often hear questions like, “Why would I want to know what I’m going to die from?”

But, here’s the thing. The primary point of sequencing your genome is not about how you’re going to DIE. It’s about how you — and sometimes, your family — are going to LIVE.

Either you’ll:

• Gain peace of mind that your DNA doesn’t indicate predispositions to the conditions tested for>

• Discover a predisposition and learn what you can do about it.

Like one of our customers told us recently,

“What I learned might have already saved my life twice.”

– Janet, 62, Travel Agent, New Hampshire

She went on to say, “Health risks discovered in my genome made my doctors at Massachusetts General Hospital (MGH) in Boston change how they managed my urgent heart surgery.”

Talk about a great reason for learning your risks! But there’s a lot more to it. That’s why we enlisted help from Lisa Paglierani, one of our certified, in-house Genetic Counselors (GCs), to tackle this subject. This is the first in a series of  “Ask a GC” blogs where we’ll engage their expertise to address a variety of topics we know are important to readers like you.

Lisa has been part of the Veritas team since 2016 and, before then, worked primarily in prenatal genetic counseling for three years. In this blog, she answers some common questions about the kinds of insights generated by Veritas myGenome sequencing and interpretation, the types of preventive measures that may be indicated, and more.

Q: What are actionable health insights and how important are they?

Lisa Paglierani: We all know that our genes can predispose us to certain health risks. Actionable health insights reveal what those risks are and what preventive actions may be recommended to mitigate your predispositions and foster your well-being. At Veritas, our actionable health insights derive from trusted scientific evidence — including gene lists informed by the ACMG (American College of Medical Genetics and Genomics) — along with rigorous sequencing in our CLIA-certified and CAP-accredited lab and expert interpretation by our team of geneticists, bioinformaticians, and GCs.

The risks we identify can be purely genetic in nature or involve a combination of genetic and lifestyle or environmental factors. In either case, there may be steps you can take to lower the risk, delay onset, or even prevent the disease altogether. Preventive steps and actions can include behavioral changes as well as measures involving medication, clinical surveillance, and surgery.

The health insights generated by sequencing your genome can vary in importance:

• Some are of critical importance, and we recommend you consult with your doctor right away. About 5% of our customers receive at least one of these findings.

• Others pose no immediate threat, but should still be discussed with your doctor. About 89% of our customers receive these kinds of results.

• Across the board, actionable health insights may also have implications for your biological relatives.

Q: Can you tell me more about the kinds of preventive measures that can be taken?

Lisa: Lifestyle strategies can be implemented by anyone to reduce their risk for a host of health conditions. But people may be more inclined to initiate new behaviors if they know it will reduce an identified risk for a specific condition like heart disease, non-alcoholic fatty liver disease, or lung cancer. Consuming a healthy diet, limiting alcohol intake, avoiding smoking and second-hand smoke, and engaging in adequate exercise are just a few such strategies.

Medication is another area for potential intervention. You may learn that you require medication to prevent the onset of the symptoms of a disease, or that you should avoid a particular medication because you’re at risk for a harmful reaction.

Your primary care physician or a specialist may want to vigilantly monitor your health through more frequent or earlier clinical surveillance aimed at catching the first signs of disease. That surveillance could include exams and tests like colonoscopies, ultrasounds, MRIs, electrocardiograms (EKGs), and blood tests. In some cases, surgery may also be considered. 

Q: Can you give me a few examples of the diseases and conditions I could find out I’m predisposed to and what preventive measures or treatments can address them?

• Familial hypercholesterolemia (FH) is a relatively common condition, occurring in about 1 in 250 people. People with FH are born with a genetic variant (or change) that triggers greatly elevated levels of low-density lipoprotein cholesterol (LDL-C), aka the “bad” cholesterol, which can form plaques in the arteries and potentially lead to a heart attack. Typically, FH can be managed with lipid-lowering medications (i.e., statins) and lifestyle changes, like regular exercise, a heart-healthy diet, and avoiding smoking. The advantage of knowing you have the FH-associated variant is being able to implement preventive strategies early on and to alert family members they may be at risk.
• Malignant hyperthermia susceptibility (MHS) is a relatively rare disorder in which a genetic variant causes a harmful reaction to certain anesthetic medications and muscle relaxants. It’s important to note that the rarity of this condition is largely due to the fact that people can live their whole lives with MHS and never know it unless they’re exposed to the contraindicated drugs. But, when these drugs are administered to someone with MHS, they can cause muscle contractions, elevated heart rate and body temperature, and even cardiac arrhythmia or cardiac arrest. If you know you have the variant linked to MHS, you can take steps to avoid these medications, such as notifying your doctor right away and making sure the disorder is noted in your medical record.
• Melanoma is a particularly aggressive form of skin cancer; it only accounts for 2% of all skin cancer cases, but is responsible for the majority of skin cancer-related deaths. Risk factors can include fair complexion, a history of chronic sun exposure or multiple severe sunburns, family history, and having a risk-increasing genetic variant. If you learn you have such a variant, you should discuss this with your doctor in the context of your personal health and family history. Your doctor may propose regular dermatology exams or advise you to become familiar with your freckles and moles, so you can report any changes right away. Sunscreen, protective clothing, and limited sun exposure are also likely to be recommended.

Q: What if I don’t get any actionable health insights? Does that mean I’m free and clear of developing a serious disease or condition in the future?

Lisa: You should definitely consider it reassuring if you don’t receive any results that indicate an increased risk for a disease or condition. However, for a variety of reasons, that doesn’t guarantee you’ll never develop such illnesses.

If you’re concerned about your risk for a specific condition, we recommend you consult with a certified Genetic Counselor. A diagnostic genetic test, such as myGenome with Diagnostic Interpretation by Veritas, or a disease-specific single-gene or panel test, may be more appropriate for you.