Introduction
Have you ever wondered what makes you truly you? Why two people can share a
family resemblance, yet still be completely different in their looks, talents, and health?
The answer lies in a fascinating field called human genetics, the study of how our
biological blueprint shapes who we are.
But beyond the science, there’s a deeper question: should understanding our genetics
be considered a human right? In a world where our genes influence everything from
disease risk to drug response, access to genetic knowledge isn’t just for scientists, it’s
something every person deserves to understand.
So, let’s start from the beginning. What exactly is human genetics, and why should you
care?
What is Human Genetics?
Human genetics is the study of what makes you, you. It explains what allows your body
to function the way it does, what signals your body’s mechanisms, and what tells your
systems how to work together in harmony. It explores what controls how your cells
behave intrinsically, and most importantly, what differentiates you from the person next
to you, yet also what makes you so closely related to them.
It’s why people from the same lineage often share common features like body shape,
height, or hair texture. It also helps explain why some families carry higher risks for
certain diseases, or why others might have protective traits or biological advantages
passed down through generations.
The Blueprint Within Us
Inside every human body are organs. Each organ is made up of trillions of cells. Inside
those cells is something extraordinary, your DNA, the instruction manual of life.
Your DNA contains all the information your body needs to grow, develop, and function.
Think of it as the ultimate user guide, complete with its own dictionary and backup
systems ready to activate when needed.
DNA is made up of just four simple chemical letters A, T, C, and G. These bases,
discovered through the pioneering work of Watson and Crick, pair up in specific ways: A
with T, and C with G. Together, they form long sequences that spell out millions of
biological “words”, the instructions that make you you.
The entire human genome, was sequenced thanks to the Human Genome Project,
completed in the early 2000s. This groundbreaking effort transformed how we see
ourselves at the most fundamental level. It showed that all humans are 99% genetically
identical, a powerful reminder of our shared humanity.
But that tiny 1% difference holds immense meaning. It’s the reason why you may be
better at sprinting than I am, or why I might be more prone to type 2 diabetes than you
are. Within that 1%, our individuality, and our health, is written.
When DNA Makes ‘Mistakes’
The genetic code is remarkably precise, but it isn’t perfect. Just like humans, DNA can
make errors. Thankfully, our bodies are incredibly tolerant of these.
Some errors are harmless, the body “glances over” them and continues as normal.
These are called synonymous mutations, tiny changes that don’t alter the final message
of the gene.
Others, however, can cause more significant changes. These are called
nonsynonymous mutations, and they can alter how proteins are made, sometimes
leading to disease.
At the most basic level, DNA changes can happen in different forms:
· Substitution – when one base (A, T, C, or G) is swapped for another.
· Deletion or “Missed” base – when a base is accidentally skipped.
· Duplication – when a base or segment is copied more than once.
· Inversion – when a segment of DNA flips around in the wrong direction.
When these changes happen on a larger scale, affecting longer sequences (more than
50 base pairs), we call them structural variants. These include:
· Inversions (a whole section reversed),
· Duplications (extra copies of a region), and
· Translocations (where a section moves to a new location on the chromosome).
All these variations can influence how our genes function and, consequently, how our
bodies behave. Some may lead to inherited conditions or predispositions to diseases
like sickle cell anaemia, cystic fibrosis, or certain cancers. Yet, despite all these potential
changes, most of us function perfectly well.
Why Human Genetics Matters
So why should you care about all this scientific detail?
Because human genetics touches everything! from the medicines prescribed to you, to
how your body reacts to diet and environment. It explains why some people can eat
certain foods without issue, while others develop intolerances. It’s the reason one
person may develop hypertension or diabetes earlier than another, even when living in
the same community.
Understanding our genetic makeup isn’t about turning everyone into a scientist. It’s
about empowering individuals and communities with knowledge that can improve health
outcomes, guide treatment, and reduce stigma around genetic conditions.
When families understand that a condition like sickle cell disease or albinism is genetic,
not contagious, not a curse, it helps dismantle myths and fosters compassion.
That’s why genetic literacy is so important
Human Genetics as a Human Right
Now we return to our main question: is understanding our genetics a human right?
I believe it is. Knowing your genetic information is not just a matter of curiosity; it’s a
matter of health equity and empowerment.
Access to genetic education, counselling, and testing should not be reserved for the
wealthy or those in high-income countries. Every individual, whether in The Gambia,
Uganda, Nigeria, or the UK, deserves to know how their genes affect their health.
When we understand our genetic risks, we can make informed decisions about:
· lifestyle choices,
· screening and early diagnosis,
· and even about reproductive planning.
Knowledge of human genetics can save lives, through early detection, better treatment
choices, and prevention strategies tailored to an individual’s biology.
At HuGAA, we believe genetics should be part of everyday conversation in schools,
clinics, and communities. Because understanding your genes isn’t a privilege. It’s
power. And that power should belong to everyone.
To Conclude (finally),
Human genetics isn’t just about laboratories and microscopes. It’s about people, our
stories, our health, and our shared future.
When we learn about our DNA, we learn not only about disease, but about connection,
how all humans, despite our differences, share the same biological roots.
As science continues to advance, the question isn’t whether genetics will shape the
future of healthcare, it’s whether everyone will have equal access to that future.
So yes, human genetics is a human right. And it begins with awareness, one
conversation, one community, and one blog post at a time.
(This article is part of the “HuGAA’s Make it Easy! – Genetics simplified” series, where
we break down complex genetic concepts into simple, engaging discussions for
everyone. Stay tuned for the next topic: “What Exactly is DNA?”
