Healthcare traditionally was all about one-size-fits-all, with all treatment plans for certain diseases following the same protocol. This cookie-cutter approach wasn’t the best for something as complex as medicine and the human body. 

Since the last few decades, the healthcare industry has witnessed revolutionary advancements, with personalised medicine evolution progressing exponentially. The new era of personalised or precision medicine began when genetic labs came into the picture. 

Now, personalised medicine is all about improving the ways and developing targeted treatments to prevent and treat diseases by using an individual’s genetic profile. Let’s dive deep to figure out the role of genetic testing labs in personalised medicine. 

What is Genetic Testing?

Cells in the human body contain chromosomes composed of chemical strands called DNA. Deoxyribonucleic acid (DNA) carries genes or genetic information. These genes contain proteins that give an individual a variety of traits, making him unique from others. 

Genetic lab testing involves testing an individual’s genes for changes or mutations in DNA, chromosomes, or proteins. The results of genetic tests can tell people whether they are suspected of any genetic condition or their chances of developing or passing on a genetic disorder.

What are Genetic Testing Labs?

Genetic testing laboratories are the places where genetic testing is done. A medical expert collects a sample of your blood, skin, hair, amniotic fluid, or other tissue using certain procedures and then sends this sample to the genetic testing lab. 

Furthermore, technicians at these labs look for specific changes in the sample’s DNA, chromosomes, or proteins, depending on the suspected disorder. 

What is Personalised Medicine?

Personalised medicine is about tailoring medical treatments based on the patient’s unique characteristics. This medicinal approach relies on the genetic testing labs’ breakthroughs by understanding how an individual’s molecular and genetic profile makes them susceptible to specific illnesses or diseases. 

Personalised medicine is an extension of traditional approaches to understand, manage, and treat diseases. This revolutionary medicinal approach focuses on developing individualised treatment or therapy based on the patient’s genetic profile that can potentially minimise treatment’s harmful side effects, maximise successful outcomes, and reduce medical costs.

What is the Role of Genetics Testing Labs in Personalised Medicine?

In the context of personalised medicine, researchers and medical experts at genetics testing labs do clinical trials or investigations into genes to research each patient’s unique proteome. Researchers perform pharmacogenetics - the study of how an individual’s genes can affect their drug response- to tailor drug selection and dose according to the patient’s genetics.

Moreover, NHGRI states that genomics (a multidisciplinary field that studies the genes’ structure, function, evolution, and mapping) can play a vital role in individualised medicine. It’s because genomics-specialised genetic testing labs can provide extremely specific molecular information on what makes people different from others and help researchers predict their disease based on those differences. 

Therefore, pharmacogenomics-specialised genetic testing labs have the potential to ultimately impact all types of medicine to adopt an individualised approach. These labs can improve various therapies, such as nucleic acids, proteins, genes, irradiation, viruses, and cells. 

In addition, genetic testing laboratories can also minimise medical costs by helping the healthcare sector shift from the conventional treatment approach to an individualised preventive and predictive approach. 

Exploring the Role of Genetic Lab Testing in Personalised Medicine for Different Medical Conditions

Let’s learn how genetic lab testing is redefining personalised medicine for different medical conditions by discussing some of the below examples:

• Breast Cancer

One of the earliest examples of genetic testing redefining personalised medicine came in Trastuzumab. It’s been researched that approximately 30% of patients with breast cancer suffer from a specific form that over-expresses a protein named HER2.  This protein is not responsive to any standard treatment or therapy. 

In 1998, Trastuzumab was approved for breast cancer patients with HER2-positive tumours, and further research in 2005 found that it reduced cancer recurrence by 52% when combined with chemotherapy. 

Moreover, a study discovered that five differentially expressed serum microRNA signature diagnostic models can help clinicians at genetic labs develop personalised medicine to improve patient outcomes. These newer techniques are likely to impact patient treatment in future. 

• Melanoma

The human gene BRAF produces a protein called B-Raf, which transfers signals inside cells for direct cell growth. Moreover, B-Raf has been researched to be mutated in cancers.

After years of genetic testing, the BRAF V600E Mutation Test and a drug named Vemurafenib, a B-Raf protein inhibitor, were approved in 2011 for treating late-stage melanoma. 

• Cardiovascular Disease

Before the development of a gene expression profiling test, Traditionally, a heart biopsy was used to manage heart transplant rejection. However, today, genetic diagnostic tests are being developed which can be performed on the patient’s blood sample to identify the heart transplant recipient’s probability of rejecting the transplanted heart and managing their care post-transplant.

• Gastric Cancer (GC)

Gastric cancer is a heterogeneous disease, it makes demonstrating efficacy in clinical trials challenging. Researchers in the genetic labs have identified molecular biomarkers with predictive and prognostic implications to understand gastric cancer heterogeneity and develop more targeted therapy. 

According to research, personalised medicine based on GC tumour tissues’ multiplex gene panel testing has become vital to clinical use, with genomics becoming an indispensable tool for gastric cancer treatment. 

Human Papillomavirus (HPV)

A study in 2023 sought to uncover the protein signatures of Human Papillomavirus-related cervical carcinogenesis. This study concluded that cornulin is potentially a biomarker for the risk of HPV progression.

Wrapping up it all!

Modern-day genetic labs play a central role in personalised medicine by guiding clinicians and healthcare experts in individualised disease prevention, diagnosis, and treatment decisions. 

Are you seeking personalised counselling, diagnosis, and treatment plans for your rare health condition? Medanta Genetics is a world-class genetic department offering customised care according to specific genetic insights from patient screenings.