Who Am I? How Genome Sequencing Uncovers Our Unique Traits and Vulnerabilities

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13 May 2025

8 Min Read

AP Dr Phelim Yong Voon Chen (Academic Contributor)

IN THIS ARTICLE
Associate Professor Dr Phelim Yong Voon Cheni

Contributed by AP Dr Phelim Yong Voon Chen, whose research focuses on proteomics, cell biology, and more. He can be reached at phelimvoonchen.yong@taylors.edu.my.

You might have wondered why coffee keeps you up all night, while your friends sleep soundly. Or why you catch colds more often, even though you live a healthy life. The answers might not lie in your habits—but in your genes.

 

Hidden within every one of your cells is a script, three billion letters long, quietly shaping how you look, feel, and respond to the world. Thanks to genome sequencing, you can now read that script—and begin to uncover the unique traits, risks, and possibilities written into your DNA (deoxyribonucleic acid).

Decoding What Makes Us Unique: Traits Within the Genome

Our entire body runs on instructions—written in the form of DNA, a long, complex molecule that lives inside nearly every cell. Genome sequencing is the process of reading the complete set of these instructions—three billion base pairs—known as the genome.

 

What makes this remarkable is not just the scale, but the detail. While most of our genetic code is shared with others (and even with bananas, surprisingly), it’s the small differences—called single nucleotide polymorphisms (SNPs)—that make each of us biologically unique.

DNA sequence

Most SNPs don’t affect your health at all—but a few can make a huge difference. One SNP can determine whether a drug works for you, or whether you’re at high risk for a genetic disease. Researchers are still uncovering which ones matter most, and it’s changing how we treat illness.

Genetic Traits and Characteristics
 

These variations influence everything from our eye colour to how we digest certain foods. For instance, some people carry a variant near the LCT (lactase-phlorizin hydrolase) gene that allows them to digest lactose—the sugar in milk—even into adulthood, while others gradually lose this ability and become lactose intolerant.

 

Certain gene variants can even shape physical performance. The ACTN3 (Alpha-Actinin-3) gene, for example, has been linked to fast-twitch muscle fibres—ideal for sprinting and power-based sports. Meanwhile, our immune responses, too, are influenced by our genes, affecting how we recover from infections or respond to vaccines.

cell

Your immune system has its own ‘ID check’ system—and it's written in your DNA. The HLA (human leukocyte antigen) genes help your body recognise what belongs and what doesn’t, acting like bouncers at the door of your cells. But because everyone's HLA profile is slightly different, your body might react to infections, viruses, and even vaccines in a totally unique way compared to someone else.

The Role of Genome Sequencing in Predicting Health Risks

Just as genes shape our traits, they can also influence our health risks. A genetic predisposition means having a higher chance of developing a condition due to inherited gene variants. It doesn’t guarantee illness, but it does tilt the odds.

 

Perhaps the most well-known examples are the BRCA1 (breast cancer gene 1) and BRCA2 (breast cancer gene 2) genes, both associated with breast cancer. Mutations in these genes dramatically increase the risk of breast and ovarian cancer. Other genes, like APOE-e4 (Apolipoprotein E, type ε4), are linked to Alzheimer’s disease, while some inherited conditions raise the risk of early heart disease.

 

By identifying these risks early, individuals and doctors can take action—sometimes life-saving action.

Hand on album

The APOE-e4 gene variant has been nicknamed the ‘ancestral survival gene’ by some scientists. Why? Because it may have once helped early humans survive harsh environments by promoting a strong immune response and fat storage. But in today’s world of longer lifespans and sedentary lifestyles, that same gene is linked to a higher risk of Alzheimer’s.

Early Detection and Prevention
 

When actress Angelina Jolie revealed she carried a BRCA1 mutation, she also shared her decision to undergo a preventive mastectomy. This sparked a global conversation on the power of genetic testing—not to predict fate, but to prepare for it.

 

Armed with knowledge, individuals can adopt healthier lifestyles, undergo more frequent screenings, or take preventive medical steps. In many cases, it’s the difference between being caught off guard and being one step ahead.

 

Tailoring Healthcare Through Genetic Insights

Traditionally, medicine has followed a ‘one-size-fits-all’ model. But we now know that the same treatment doesn’t work the same way for everyone. Genome sequencing is ushering in a new era: precision medicine, where treatments are tailored to an individual’s unique genetic makeup.

 

Take Herceptin (trastuzumab), for example. This drug is highly effective—but only for breast cancer patients whose tumours are HER2-positive (short for human epidermal growth factor receptor 2), meaning they overexpress the HER2 gene. Without genome testing, doctors might miss this crucial detail. With it, they can make targeted decisions, improving patient outcomes while reducing unnecessary treatments.

Red blood cell

Your genes can decide whether a life-saving drug works—or doesn’t. A gene called CYP2C19 (Cytochrome P450 Family 2 Subfamily C Member 19) affects how your body breaks down clopidogrel (Plavix), a common blood thinner. Some people metabolise it so slowly that the drug becomes nearly useless. But with a simple genetic test, doctors can personalise your prescription, choosing the right drug or dose just for you.

Ethical and Societal Implications

While genome sequencing offers exciting breakthroughs, it also opens the door to complex ethical challenges. As we peer deeper into our DNA, we must ask: How do we protect the people behind the data?

 

 

Privacy and Data Security
 

Genetic data is the most personal data we have—far more intimate than a fingerprint. But who owns it once it’s sequenced? The controversy surrounding 23andMe, which shared anonymised genetic data with third parties, showed how easily trust can be shaken when transparency is lacking.

 

What we can do:

  • Advocate for stronger regulations that ensure individuals retain ownership of their genetic data.
  • Support platforms and services that prioritise informed consent and secure data handling.
  • Educate the public about data-sharing policies before genetic testing.

 

 

Genetic Discrimination
 

What if your DNA could be used against you? In the wrong hands, genetic information could influence decisions about employment, insurance coverage, or even social bias. Although some countries have laws to prevent this (like the Genetic Information Nondiscrimination Act in the US), protections are patchy or absent elsewhere.

 

What we can do:

  • Push for international agreements and legal frameworks that prevent discrimination based on genetic data.
  • Encourage employers and insurers to adopt transparent, inclusive policies rooted in ethics, not risk avoidance.
  • Raise awareness so people understand their rights when participating in genetic testing.

Genome sequencing is transforming human evolution by enabling gene editing, disease prevention, and trait enhancement, shifting control from natural selection to human intervention. While promising, it raises ethical concerns about genetic inequality and designer traits. Careful regulation is key to ensuring these benefits are accessible to all.

— AP Dr Phelim Yong Voon Chen

Conclusion

Genome sequencing doesn’t just tell us who we are—it shows us who we could be. It connects past, present, and future through the strands of DNA that make each of us human and uniquely ourselves.

 

By uncovering our traits and vulnerabilities, genome sequencing gives us power: the power to understand, to prevent, and to heal. As science advances, so too does the hope that every person, no matter their background, can live a longer, healthier life—written not by fate, but by informed choice.

What if you could uncover the hidden instructions that make each person unique? From inherited traits to breakthroughs in personalised medicine, genetics holds the key to understanding life at its core. With the Bachelor of Applied Health Sciences (with specialisation in Genetics), you’ll dive into the world of DNA, exploring how it influences health, disease, and innovation in medical science.

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