The personal side of Genomics

I remember reading “Still Alice” when I was younger, the story of a linguistics professor who slowly loses her memory and sense of self, revealing the emotional and cognitive unraveling of a brilliant mind. Dr. Lisa Genova, a neuroscientist, wrote the book as a way of humanizing neurodegenerative disease, making readers feel what it’s like, rather than understanding it clinically.  

A quote from the book that stayed with me is “All my life I’ve accumulated memories; they’ve become, in a way, my most precious possessions.”  

Working in genomics many years later, I often think about our DNA as a kind of memory, a biological language written long before we were born. It tells stories of ancestry, health and change. But like any language, it needs translation. That’s where genetic counselling comes in, helping people understand what their genes are saying and what it means for them and their families.

Before any test can be done, we sit together to explore what the conversation might reveal. Some people hope for clarity about a medical condition, and others about what results might mean for their children or future. Pre-test counselling is the first step in a carefully created safe space to facilitate sharing and understanding. It’s like learning the grammar of a new language before reading your own story in it. We talk about what testing can reveal, what it can’t, and what choices a person has, holding the complexity of DNA gently so no one feels lost in translation.  

Once a lab has tested or “sequenced” the DNA, it needs to be interpreted to give the letters meaning. Each small change or “variant” in the genetic code is like a word, whose meaning depends on context. Some words are harmless quirks, while others alter their meaning and are linked to health conditions. Variant curation is our work of decoding. We compare evidence from databases, research studies and clinical cases to decide what each change might mean. Even the clearest scientific result still needs to be understood by the person it belongs to. Sometimes it brings relief, and sometimes it brings uncertainty. Often, it opens doors to medical care, family discussions, or research opportunities. Alice says, “Like any disease, it has a cause, it has a progression, and it could have a cure. My greatest wish is that my children, our children - the next generation - do not have to face what I am facing”. We carry that same hope.

The story of Still Alice made the invisible visible and felt, and in many ways, genetic counselling does the same; it helps people find meaning in the unseen, dignity in uncertainty and hope through knowledge.  

Clinical omics and informatics give us the tools to see life at its most intricate level, the genome. But in counselling rooms and in conversations, it’s a shared understanding that brings the science of what we do alive. A story that continues to unfold here at COIN.  

Although genomics is written in code, its true meaning is found in care.