The emotional burden of receiving negative genetic test results

Hereditary diseases not only affect the body, but they also ripple through families, shaping relationships, identities, and mental health.

I know this reality all too well. My late husband, Aubrey, was diagnosed in 2013 with hereditary ATTR amyloidosis, a genetic disorder caused by mutations in the TTR gene. While advances in genetic testing have transformed diagnosis and treatment of the disease, they’ve also revealed a quieter, often overlooked reality: the emotional burden carried by family members, including those who test negative.

In ATTR amyloidosis, gene mutations cause TTR, or transthyretin, proteins to misfold and clump together, resulting in their accumulation as amyloid deposits in tissues and organs such as the heart. Over time, this buildup can lead to organ damage, disability, and reduced life expectancy. Aubrey lost the battle with this progressive disease in 2022, nine years after his diagnosis.

Because hereditary ATTR amyloidosis follows an autosomal dominant inheritance pattern, a child of an affected parent has a 50% chance of inheriting the mutated gene. Aubrey and I have four children, and the possibility that any of them has inherited the mutation concerns me. Genetic testing is therefore essential. Early identification allows for surveillance, timely intervention, and informed decisions about treatment, family planning, and lifestyle.

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Conflicting emotions

In the past, I didn’t want our children to be tested, but I now view testing as empowerment — knowledge that can save lives. Yet that knowledge can have complex psychological consequences. I have seen Aubrey’s extended family members become downcast and emotional after receiving their genetic test results — not because they tested positive, but because their brother or sister did. This experience may be less visible, but it is equally profound.

In families affected by ATTR amyloidosis, a negative genetic test is often expected to bring relief. Instead, many experience what is known as survivor’s guilt, a deep sense of emotional conflict about being spared while a brother, sister, or parent faces a life-altering disease.

Those who test negative may ask themselves difficult questions:

• Why not me?
• What right do I have to live without this burden while my sibling suffers?
• Should I feel grateful, or ashamed of that gratitude?

These feelings can intensify when individuals witness disease progression firsthand, watching a loved one lose mobility, independence, or quality of life. The contrast between their own health and their sibling’s decline can become emotionally unbearable.

This psychological toll is rarely addressed in clinical settings. Many feel they don’t have “permission” to grieve or struggle because they are considered the lucky ones. As a result, their distress, guilt, and self-blame often go unspoken and untreated.

Genetic testing programs and healthcare providers must recognize that the emotional consequences extend beyond identifying carriers. Genetic counseling should be ongoing, not a single pre-test conversation, and it should include space to discuss guilt, fear, and family dynamics for all test outcomes.

Note: Amyloidosis News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Amyloidosis News Today or its parent company, Bionews, and are intended to spark discussion about issues pertaining to familial amyloid polyneuropathy.